Science.gov

Sample records for 2q b2y 2q

  1. Deletion (2)(q37)

    SciTech Connect

    Stratton, R.F.; Tolworthy, J.A.; Young, R.S.

    1994-06-01

    We report on a 5-month-old girl with widely spaced nipples, redundant nuchal skin, coarctation of the aorta, anal atresia with distal fistula, postnatal growth retardation, hypotonia, and sparse scalp hair. Initial clinical assessment suggested the diagnosis of Ullrich-Turner syndrome. Chromosome analysis showed a 46,XX,del(2)(q37) karyotype in peripheral lymphocytes. We compare her findings to those of other reported patients with terminal deletions of 2q. 8 refs., 2 figs., 1 tab.

  2. Regional mapping of loci from human chromosome 2q to sheep chromosome 2q

    SciTech Connect

    Ansari, H.A.; Pearce, P.D.; Maher, D.W.; Malcolm, A.A.; Wood, N.J.; Phua, S.H.; Broad, T.E. )

    1994-03-01

    The human chromosome 2q loci, fibronectin 1 (FN1), the [alpha]1 chain of type III collagen (COL3A1), and the [delta] subunit of the muscle acetylcholine receptor (CHRND) have been regionally assigned to sheep chromosome 2q by in situ hybridization. COL3A1 is pericentromeric (2q12-q21), while FN1 and CHRND are in the subterminal region at 2q41-q44 and 2q42-qter, respectively. The mapping of FN1 assigns the sheep synthenic group U11, which contains FN1, villin 1 (VIL1), isocitrate dehydrogenase 1 (IDH1), and [gamma] subunit of the muscle acetylcholine receptor (CHRNG), to sheep chromosome 2q. Inhibin-[alpha] (INHA) is also assigned to sheep chromosome 2q as FN1 and INHA compose sheep linkage group 3. These seven loci are members of a conserved chromosomal segment in human, mouse, and sheep. 23 refs., 2 figs., 1 tab.

  3. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.

    PubMed

    Riley, Kacie N; Catalano, Lisa M; Bernat, John A; Adams, Stacie D; Martin, Donna M; Lalani, Seema R; Patel, Ankita; Burnside, Rachel D; Innis, Jeffrey W; Rudd, M Katharine

    2015-11-01

    Copy number variation (CNV) in the long arm of chromosome 2 has been implicated in developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD), congenital anomalies, and psychiatric disorders. Here we describe 14 new subjects with recurrent deletions and duplications of chromosome 2q11.2, 2q13, and 2q11.2-2q13. Though diverse phenotypes are associated with these CNVs, some common features have emerged. Subjects with 2q11.2 deletions often exhibit DD, speech delay, and attention deficit hyperactivity disorder (ADHD), whereas those with 2q11.2 duplications have DD, gastroesophageal reflux, and short stature. Congenital heart defects (CHDs), hypotonia, dysmorphic features, and abnormal head size are common in those with 2q13 deletions. In the 2q13 duplication cohort, we report dysmorphic features, DD, and abnormal head size. Two individuals with large duplications spanning 2q11.2-2q13 have dysmorphic features, hypotonia, and DD. This compilation of clinical features associated with 2q CNVs provides information that will be useful for healthcare providers and for families of affected children. However, the reduced penetrance and variable expressivity associated with these recurrent CNVs makes genetic counseling and prediction of outcomes challenging. © 2015 Wiley Periodicals, Inc. PMID:26227573

  4. The 5-HT2B receptor gene maps to 2q36.3-2q37.1

    SciTech Connect

    Le Coniat, M.; Berger, R.; Choi, Doo-Sup; Maroteaux, L.

    1996-02-15

    This article reports on the localization of the serotonin 5-HT2B receptor to human chromosome 2q36.3-2q37.1 using fluorescence in situ hybridization. The structure and function of this gene, as well as its expression, remain to be investigated in the human. 9 refs.

  5. Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q

    SciTech Connect

    Fink, J.K.; Rainier, S.; Wilkowski, J.; Jones, S.M.

    1996-07-01

    Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that last up to several hours and occur at rest both spontaneously and following caffeine or alcohol consumption. We analyzed a Polish-American kindred with autosomal dominant PDC and identified tight linkage between the disorder and microsatellite markers on chromosome 2q (maximum two-point LOD score 4.77; recombination fraction 0). Our results clearly establish the existence of a locus for autosomal dominant PDC on distal chromosome 2q. The fact that three other paroxysmal neurological disorders (periodic ataxia with myokymia and hypo- and hyperkalemic periodic paralysis) are due to mutation in ion-channel genes raises the possibility that PDC is also due to an ion-channel gene mutation. It is noteworthy that a cluster of sodium-channel genes is located on distal chromosome 2q, near the PDC locus. Identifying the PDC locus on chromosome 2q will facilitate discovery whether PDC is genetically homogeneous and whether other paroxysmal movement disorders are also genetically linked to the PDC locus. 28 refs., 2 figs., 1 tab.

  6. 2Q-LEBT Prototype for the RIA Facility

    SciTech Connect

    Vinogradov, N.E.; Aseev, V.N.; Kern, M.R.L.; Ostroumov, P.N.; Pardo, R.C.; Scott, R.; Vondrasek, R.C.

    2005-03-15

    The Rare Isotope Accelerator (RIA) facility utilizes the concept of simultaneous acceleration of two charge states from the ion source. We are building a prototype two charge-state (2Q) injector of the RIA Driver Linac, which includes an ECR ion source, a LEBT and one-segment of the prototype RFQ. Currently, the 2Q-LEBT Facility consists of Berkeley Ion Equipment Corporation BIE-100 ECR ion source. The rf transmitters, high voltage power supplies, turbo pumps and other related equipment were received with the source. BIE-100 is an all-permanent-magnet source and has the highest magnetic field strengths for an ECR ion source of this type ever built. The magnetic field achieves a maximum strength of 11 kG at the plasma chamber surface and 13 kG on the axis. The source can operate with two-frequency plasma heating of 12.75 and 14.5 GHz. The reassembly of the source has been completed and beam production was achieved in the June 2004. This report includes measured beam current and emittance for 16O from the source along with the beam dynamics simulations. Detailed design of the 2Q-LEBT and the current project status are also presented.

  7. 2Q-LEBT Prototype for the RIA Facility

    NASA Astrophysics Data System (ADS)

    Vinogradov, N. E.; Aseev, V. N.; Kern, M. R. L.; Ostroumov, P. N.; Pardo, R. C.; Scott, R.; Vondrasek, R. C.

    2005-03-01

    The Rare Isotope Accelerator (RIA) facility utilizes the concept of simultaneous acceleration of two charge states from the ion source. We are building a prototype two charge-state (2Q) injector of the RIA Driver Linac, which includes an ECR ion source, a LEBT and one-segment of the prototype RFQ. Currently, the 2Q-LEBT Facility consists of Berkeley Ion Equipment Corporation BIE-100 ECR ion source. The rf transmitters, high voltage power supplies, turbo pumps and other related equipment were received with the source. BIE-100 is an all-permanent-magnet source and has the highest magnetic field strengths for an ECR ion source of this type ever built. The magnetic field achieves a maximum strength of 11 kG at the plasma chamber surface and 13 kG on the axis. The source can operate with two-frequency plasma heating of 12.75 and 14.5 GHz. The reassembly of the source has been completed and beam production was achieved in the June 2004. This report includes measured beam current and emittance for 16O from the source along with the beam dynamics simulations. Detailed design of the 2Q-LEBT and the current project status are also presented.

  8. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism

    PubMed Central

    Devillard, Françoise; Guinchat, Vincent; Moreno-De-Luca, Daniel; Tabet, Anne-Claude; Gruchy, Nicolas; Guillem, Pascale; Nguyen Morel, Marie-Ange; Leporrier, Nathalie; Leboyer, Marion; Jouk, Pierre-Simon; Lespinasse, James; Betancur, Catalina

    2010-01-01

    We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormality was derived from his mother with a balanced paracentric inversion. The inversion in the child appeared to be cytogenetically balanced but subtelomere FISH revealed a cryptic deletion at the 2q37.3 breakpoint. High-resolution single nucleotide polymorphism array confirmed the presence of a 3.5 Mb deletion that extended to the telomere, and showed a 4.2 Mb duplication at 2q14.1q14.2. FISH studies using a 2q14.2 probe showed that the duplicated segment was located at the telomeric end of chromosome 2q. This recombinant probably resulted from breakage of a dicentric chromosome. The child had autism, mental retardation, speech and language delay, hyperactivity, growth retardation with growth hormone deficiency, insulin-dependent diabetes, and mild facial dysmorphism. Most of these features have been previously described in individuals with simple terminal deletion of 2q37. Pure duplications of the proximal chromosome 2q are rare and no specific syndrome has been defined yet, so the contribution of the 2q14.1q14.2 duplication to the phenotype of the patient is unknown. These findings underscore the need to explore apparently balanced chromosomal rearrangements inherited from a phenotypically normal parent in subjects with autism and/or developmental delay. In addition, they provide further evidence indicating that chromosome 2q terminal deletions are among the most frequently reported cytogenetic abnormalities in individuals with autism. PMID:20684015

  9. Status of the 2Q-LEBT facility at ANL.

    SciTech Connect

    Scott, R. H.; Asseev, V. N.; Kulevoy, T. V.; Ostroumov, P. N.; Poklonskaya, E. A.; Sengupta, M.; Vinogradov, N. E.; Physics; ITEP; St. Petersburg Electrochemical Univ.; Northern Illinois Univ.

    2007-07-01

    The concept for a 2 charge state injector for a 'RIA type' accelerator has been presented. Progress toward an operational prototype 2Q-LEBT system at Argonne National Laboratory (ANL) is under way. The existing BIE 100 all permanent magnet ECR has been placed on a high voltage platform capable of a combined >100kV with q/m separation at ground level. Remote control of the devices on the platform has been implemented. Other components of the facility are currently being tested. The components of an achromatic bending system are currently being procured. This paper will present recent work at the facility as well as preliminary development of solid materials using the BIE 100.

  10. 49 CFR 178.33a - Specification 2Q; inner nonrefillable metal receptacles.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 49 Transportation 3 2012-10-01 2012-10-01 false Specification 2Q; inner nonrefillable metal receptacles. 178.33a Section 178.33a Transportation Other Regulations Relating to Transportation (Continued... nonrefillable metal receptacles....

  11. 49 CFR 178.33a - Specification 2Q; inner nonrefillable metal receptacles.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 49 Transportation 3 2014-10-01 2014-10-01 false Specification 2Q; inner nonrefillable metal receptacles. 178.33a Section 178.33a Transportation Other Regulations Relating to Transportation (Continued... nonrefillable metal receptacles....

  12. 49 CFR 178.33a - Specification 2Q; inner nonrefillable metal receptacles.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 49 Transportation 3 2013-10-01 2013-10-01 false Specification 2Q; inner nonrefillable metal receptacles. 178.33a Section 178.33a Transportation Other Regulations Relating to Transportation (Continued... nonrefillable metal receptacles....

  13. 49 CFR 178.33a - Specification 2Q; inner nonrefillable metal receptacles.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 49 Transportation 3 2011-10-01 2011-10-01 false Specification 2Q; inner nonrefillable metal receptacles. 178.33a Section 178.33a Transportation Other Regulations Relating to Transportation (Continued... nonrefillable metal receptacles....

  14. 49 CFR 178.33a - Specification 2Q; inner nonrefillable metal receptacles.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 2 2010-10-01 2010-10-01 false Specification 2Q; inner nonrefillable metal receptacles. 178.33a Section 178.33a Transportation Other Regulations Relating to Transportation PIPELINE AND... nonrefillable metal receptacles....

  15. Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-2q14.1 and paralogous regions on other human chromosomes.

    PubMed

    Fan, Yuxin; Linardopoulou, Elena; Friedman, Cynthia; Williams, Eleanor; Trask, Barbara J

    2002-11-01

    Human chromosome 2 was formed by the head-to-head fusion of two ancestral chromosomes that remained separate in other primates. Sequences that once resided near the ends of the ancestral chromosomes are now interstitially located in 2q13-2q14.1. Portions of these sequences had duplicated to other locations prior to the fusion. Here we present analyses of the genomic structure and evolutionary history of >600 kb surrounding the fusion site and closely related sequences on other human chromosomes. Sequence blocks that closely flank the inverted arrays of degenerate telomere repeats marking the fusion site are duplicated at many, primarily subtelomeric, locations. In addition, large portions of a 168-kb centromere-proximal block are duplicated at 9pter, 9p11.2, and 9q13, with 98%-99% average sequence identity. A 67-kb block on the distal side of the fusion site is highly homologous to sequences at 22qter. A third ~100-kb segment is 96% identical to a region in 2q11.2. By integrating data on the extent and similarity of these paralogous blocks, including the presence of phylogenetically informative repetitive elements, with observations of their chromosomal distribution in nonhuman primates, we infer the order of the duplications that led to their current arrangement. Several of these duplicated blocks may be associated with breakpoints of inversions that occurred during primate evolution and of recurrent chromosome rearrangements in humans. PMID:12421751

  16. Progress with the 2Q-LEBT facility for the RIA project.

    SciTech Connect

    Vinogradov, N.; Aseev, V. N.; Kern, M. R. L.; Ostroumov, P. N.; Pardo, R. C.; Scott, R.; Physics

    2005-01-01

    The design goal of 400 kW uranium beam in the Rare Isotope Accelerator (RIA) Driver Linac can be achieved employing a concept of simultaneous acceleration of two charge states. It has been undertaken to build a prototype 2Q-injector of the RIA Driver Linac which includes an ECR ion source, a LEBT and one-segment of the prototype RFQ. The project called the 2Q-LEBT Facility is being developed in the Physics Division of ANL. Currently, the 2Q-LEBT Facility consists of BIE-100 ECR ion source. The reassembly and commissioning of the source has been completed. During the commissioning process we redesigned and manufactured a few components of the source to increase the beam production performance. A new diagnostic station has been designed and built for accurate measurements of the output beam emittance. The further development of the 2Q-LEBT Facility comprises installation of the source on 100 kV high-voltage platform, building an achromatic bending and transport system including the multi-harmonic buncher, and a full power 57.5 MHz RFQ segment. This report includes a detailed description of the 2Q-LEBT design and beam dynamics simulations along with emittance measurements for various beams.

  17. Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localized to 2q37

    SciTech Connect

    Wilson, L.C. |; Oude Luttikhuis, M.E.M.; Duckett, D.P.; Barrow, M.A.; Leverton, K.; Read, A.P.; Oley, C.A.; Wolstenholme, J.; Flint, J.; Leonard, J.V.

    1995-02-01

    We report five patients with a combination of brachymetaphalangia and mental retardation, similar to that observed in Albright hereditary osteodystrophy (AHO). Four patients had cytogenetically visible de novo deletions of chromosome 2q37. The fifth patient was cytogenetically normal and had normal bioactivity of the {alpha} subunit of Gs (Gs{alpha}), the protein that is defective in AHO. In this patient, we have used a combination of highly polymorphic molecular markers and FISH to demonstrate a microdeletion at 2q37. The common region of deletion overlap involves the most telomeric 2q marker, D2S125, and extends proximally for a maximum distance of 17.6 cM. We suggest this represents a consistent phenotype associated with some deletions at 2q37 and that genes important for skeletal and neurodevelopment lie within this region. Screening for deletions at this locus should be considered in individuals with brachymetaphalangia and mental retardation. Furthermore, 2q37 represents a candidate region for type E brachydactyly. 28 refs., 6 figs., 1 tab.

  18. Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

    PubMed

    Spielmann, Malte; Marx, Sylvie; Barbi, Gotthold; Flöttmann, Ricarda; Kehrer-Sawatzki, Hildegard; König, Rainer; Horn, Denise; Mundlos, Stefan; Nader, Sean; Borck, Guntram

    2016-05-01

    The femoral facial syndrome (FFS) is a rare congenital anomaly syndrome characterized by bilateral femoral hypoplasia and facial dysmorphism. The etiology of FFS is currently unknown but maternal/gestational diabetes has been proposed as a strong risk factor for syndromic femoral hypoplasia. In affected children born to non-diabetic mothers, a genetic contribution to FFS is suspected; however, no chromosomal anomalies or gene mutations have been identified so far. Here, we report on a girl with FFS and a de novo complex chromosome rearrangement of terminal chromosome 2q37.2. Radiographs of the pelvis and lower limbs showed bilateral shortening and bowing of the femur and radiographs of hands and feet revealed a brachydactyly type E (BDE). Using high resolution array-CGH, qPCR, and FISH, we detected a ∼1.9 Mb duplication in the chromosomal region 2q37.2 and a ∼5.4 Mb deletion on chromosome 2q37.3 that were absent in the parents. The duplication contains six genes and the deletion encompasses 68 genes; the latter has previously been shown to cause BDE (through haploinsufficiency for HDAC4) but not femoral hypoplasia. Therefore, we propose that the duplication 2q37.2 could be causative for the femur phenotype. To the best of our knowledge, our report is the first to propose a genetic cause in a case of FFS. © 2016 Wiley Periodicals, Inc. PMID:26822876

  19. 2q31.1 microdeletion syndrome: case report and literature review

    PubMed Central

    Puvabanditsin, Surasak; February, Melissa; Shaik, Tazeem; Kashyap, Arun; Bruno, Chantal; Mehta, Rajeev

    2015-01-01

    Key Clinical Message We describe a preterm neonate with bilateral coloboma of the iris, upper and lower limb malformations including rocker bottom feet, camptodactyly, and clinodactyly together with microcephaly and small for gestational age whom cytogenetic diagnosis using SNP microarray detected an interstitial deletion of chromosome 2 between 2q31.1 and 33.1. PMID:26185628

  20. Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).

    PubMed

    Al-Awadi, S A; Farag, T I; Naguib, K; Teebi, A; Cuschieri, A; Al-Othman, S; Sundareshan, T S

    1983-12-01

    A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet. PMID:6655673

  1. 31 CFR 30.2 - Q-2: To what entities does this part apply?

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 31 Money and Finance: Treasury 1 2011-07-01 2011-07-01 false Q-2: To what entities does this part... STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.2 Q-2: To what entities does this part apply? This part applies to any TARP recipient, provided that the requirements of sections 111(b) (portions of §...

  2. 31 CFR 30.2 - Q-2: To what entities does this part apply?

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.2 Q-2: To what entities does this part apply? This....11 (Q-11), and § 30.15 (Q-15)), and section 111(e) (§ 30.13 (Q-13)) apply only during the...

  3. 31 CFR 30.2 - Q-2: To what entities does this part apply?

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.2 Q-2: To what entities does this part apply? This....11 (Q-11), and § 30.15 (Q-15)), and section 111(e) (§ 30.13 (Q-13)) apply only during the...

  4. 31 CFR 30.2 - Q-2: To what entities does this part apply?

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.2 Q-2: To what entities does this part apply? This....11 (Q-11), and § 30.15 (Q-15)), and section 111(e) (§ 30.13 (Q-13)) apply only during the...

  5. De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.

    PubMed Central

    Donnenfeld, A E; Zackai, E H; McDonald, D M; Aquino, R; Emanuel, B S

    1987-01-01

    We report a female infant diagnosed shortly after birth as having Smith-Lemli-Opitz syndrome. Despite previously reported normal G banded karyotypes, a high resolution banded chromosome analysis identified 46,XX,2q+. The importance of attention to established features of clinical syndromes, as well as persistence in investigation when diagnostic uncertainties exist, are discussed. Images PMID:3612721

  6. 31 CFR 30.2 - Q-2: To what entities does this part apply?

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 31 Money and Finance: Treasury 1 2010-07-01 2010-07-01 false Q-2: To what entities does this part apply? 30.2 Section 30.2 Money and Finance: Treasury Office of the Secretary of the Treasury TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.2 Q-2: To what entities does this part apply?...

  7. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.

    PubMed

    Papoulidis, Ioannis; Paspaliaris, Vassilis; Papageorgiou, Elena; Siomou, Elissavet; Dagklis, Themistoklis; Sotiriou, Sotirios; Thomaidis, Loretta; Manolakos, Emmanouil

    2015-01-01

    A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested. PMID:25925190

  8. The human insulin receptor substrate-1 gene (IRS1) is localized on 2q36

    SciTech Connect

    Nishiyama, Masaki; Matsufuji, Senya; Hayashi, Shin-ichi; Furusaka, Akihiro; Tanaka, Teruji ); Inazawa, J.; Nakamura, Yusuke ); Ariyama, Takeshi ); Wands, J.R. )

    1994-03-01

    The chromosomal localization of some of the genes participating in the insulin signaling pathway is known. The insulin and insulin receptor genes have been mapped to chromosomes 11 and 19, respectively. To identify the chromosomal localization of the human IRS1 gene, the fluorescence in situ hybridization technique was employed with Genomic Clone B-10. A total of 50 metaphase cells exhibiting either single or double spots of hybridization signals were examined. Among them, 32 showed the specific signals on 2q36. Therefore, the authors assigned the human IRS1 gene to 2q36. The genes for homeobox sequence (HOX4), fibronectin 1, alkaline phosphatase (intestinal), transition protein 1, villin 1, collagen (type IV), Waardenburg syndrome (type 1), alanine-glyoxylate aminotransferase, and glucagon have been localized in the vicinity of the IRS1 gene.

  9. New Attacks on RSA with Modulus N = p2q Using Continued Fractions

    NASA Astrophysics Data System (ADS)

    Asbullah, M. A.; Ariffin, M. R. K.

    2015-06-01

    In this paper, we propose two new attacks on RSA with modulus N = p2q using continued fractions. Our first attack is based on the RSA key equation ed - ϕ(N)k = 1 where ϕ(N) = p(p - 1)(q - 1). Assuming that and , we show that can be recovered among the convergents of the continued fraction expansion of . Our second attack is based on the equation eX - (N - (ap2 + bq2)) Y = Z where a,b are positive integers satisfying gcd(a,b) = 1, |ap2 - bq2| < N1/2 and ap2 + bq2 = N2/3+α with 0 < α < 1/3. Given the conditions , we show that one can factor N = p2q in polynomial time.

  10. Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia.

    PubMed

    Ogura, Kaeko; Takeshita, Kenzo; Arakawa, Chikako; Shimojima, Keiko; Yamamoto, Toshiyuki

    2014-12-01

    Patients with 2q37 deletions manifest brachydactyly mental retardation syndrome (BDMR). Recent advances in human molecular research have revealed that alterations in the histone deacetylase 4 gene (HDAC4) are responsible for the clinical manifestations of BDMR. Here, we report two male patients with 2q37.3 deletions. One of the patients showed a typical BDMR phenotype, and HDAC4 was included in the deletion region. HDAC4 was preserved in the other patient, and he showed a normal intelligence level with the delayed learning of complex motor skills. Detailed neuropsychological examinations revealed similar neuropsychological profiles in these two patients (visuo-spatial dyspraxia) that suggested developmental dyspraxia. These observations suggested that some other candidate genes for neuronal development exist in the telomeric region of HDAC4. PMID:25329715

  11. On the Diophantine equation x^2+q^2m=2y^p

    NASA Astrophysics Data System (ADS)

    Tengely, Sz

    In this paper we consider the Diophantine equation $x^2+q^{2m}=2y^p$ where $m,p,q,x,y$ are integer unknowns with $m>0,$ $p$ and $q$ are odd primes and $\\gcd(x,y)=1.$ We prove that there are only finitely many solutions $(m,p,q,x,y)$ for which $y$ is not a sum of two consecutive squares. We also study the above equation with fixed $y$ and with fixed $q.$

  12. Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.

    PubMed

    Pasteris, N G; Trask, B J; Sheldon, S; Gorski, J L

    1993-07-01

    Waardenburg syndrome (WS), the most common form of inherited congenital deafness, is a pleiotropic, autosomal dominant condition with variable penetrance and expressivity. WS is clinically and genetically heterogeneous. The basis for the phenotypic variability observed among and between WS families is unknown. However, mutations within the paired-box gene, PAX3, have been associated with a subset of WS patients. In this report we use cytogenetic and molecular genetic techniques to study a patient with WS type 3, a form of WS consisting of typical WS type 1 features plus mental retardation, microcephaly, and severe skeletal anomalies. Our results show that the WS3 patient has a de novo paternally derived deletion, del (2)(q35q36), that spans the genetic loci PAX3 and COL4A3. A molecular analysis of a chromosome 2 deletional mapping panel maps the PAX3 locus to 2q35 and suggests the locus order: centromere-(INHA, DES)-PAX3-COL4A3-(ALPI, CHRND)-telomere. Our analyses also show that a patient with a cleft palate and lip pits, but lacking diagnostic WS features, has a deletion, del (2)(q33q35), involving the PAX3 locus. This result suggests that not all PAX3 mutations are associated with a WS phenotype and that additional regional loci may modify or regulate the PAX3 locus and/or the development of a WS phenotype. PMID:8103404

  13. The Human Epilepsy Mutation GABRG2(Q390X) Causes Chronic Subunit Accumulation and Neurodegeneration

    PubMed Central

    Kang, Jing-Qiong; Shen, Wangzhen; Zhou, Chengwen; Xu, Dong; Macdonald, Robert L.

    2015-01-01

    Genetic epilepsy and neurodegenerative diseases are two common neurological disorders conventionally viewed as being unrelated. A subset of patients with severe genetic epilepsies with impaired development and often death respond poorly to anticonvulsant drug therapy, suggesting a need for new therapeutic targets. Previously, we reported that multiple GABAA receptor epilepsy mutations caused protein misfolding and abnormal receptor trafficking. Here we establish in a novel model of a severe human genetic epileptic encephalopathy, the Gabrg2+/Q390X knock-in mouse, that in addition to impairing inhibitory neurotransmission, mutant GABAA receptor γ2(Q390X) subunits accumulated and aggregated intracellularly, activated caspase 3 and caused widespread, age-dependent neurodegeneration. These novel findings suggest that the fundamental protein metabolism and cellular consequences of the epilepsy-associated mutant γ2(Q390X) ion channel subunit are not fundamentally different from those associated with neurodegeneration. The study has far-reaching significance for identification of conserved pathological cascades and mechanism-based therapies that overlap genetic epilepsies and neurodegenerative diseases. PMID:26005849

  14. Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.

    PubMed

    Mc Cormack, Adrian; Taylor, Juliet; Gregersen, Nerine; George, Alice M; Love, Donald R

    2013-01-01

    We report on three patients with interstitial deletions of the long arm of chromosome 2 involving bands 2q32.1-q35. They presented with wide-ranging phenotypic variation including facial dysmorphisms, cleft palate, learning difficulties, behavioural issues and severe heart defects. Microarray analysis confirmed an 8.6 Mb deletion in patients 1 and 2 and a 24.7 Mb deletion in patient 3. We discuss the genes involved in the deleted regions including MYO1B, GLS, FRZB, SATB2, and CPS1 and compare the phenotype with those reported in the literature. Taken together, these data suggest that there is a spectrum of disease severity such that patients with deletions encompassing the region of 2q32.1q32.2, which includes the FRZB gene, show an apparently milder phenotype compared to those that lie further distal in 2q32.3q35 that encompasses the SATB2 gene. PMID:23840981

  15. UBE2Q1 in a Human Breast Carcinoma Cell Line: Overexpression and Interaction with p53.

    PubMed

    Shafiee, Sayed Mohammad; Rasti, Mozhgan; Seghatoleslam, Atefeh; Azimi, Tayebeh; Owji, Ali Akbar

    2015-01-01

    The p53 tumor suppressor protein is a principal mediator of growth arrest, senescence, and apoptosis in response to a broad array of cellular damage. p53 is a substrate for the ubiquitin-proteasome system, however, the ubiquitin-conjugating enzymes (E2s) involved in p53 ubiquitination have not been well studied. UBE2Q1 is a novel E2 ubiquitin conjugating enzyme gene. Here, we investigated the effect of UBE2Q1 overexpression on the level of p53 in the MDA-MB-468 breast cancer cell line as well as the interaction between UBE2Q1 and p53. By using a lipofection method, the p53 mutated breast cancer cell line, MDA-MB-468, was transfected with the vector pCMV6-AN-GFP, containing UBE2Q1 ORF. Western blot analysis was employed to verify the overexpression of UBE2Q1 in MDA-MB-468 cells and to evaluate the expression level of p53 before and after cell transfection. Immunoprecipitation and GST pull-down protocols were used to investigate the binding of UBE2Q1 to p53. We established MDA-MB-468 cells that transiently expressed a GFP fusion proteins containing UBE2Q1 (GFP-UBE2Q1). Western blot analysis revealed that levels of p53 were markedly lower in UBE2Q1 transfected MDA-MB-468 cells as compared with control MDA-MB-468 cells. Both in vivo and in vitro data showed that UBE2Q1 co-precipitated with p53 protein. Our data for the first time showed that overexpression of UBE2Q1can lead to the repression of p53 in MDA-MB-468 cells. This repression of p53 may be due to its UBE2Q1 mediated ubiquitination and subsequent proteasome degradation, a process that may involve direct interaction of UBE2Q1with p53. PMID:25987028

  16. Identification of SATB2 as the cleft palate gene on 2q32-q33.

    PubMed

    FitzPatrick, David R; Carr, Ian M; McLaren, Lorna; Leek, Jack P; Wightman, Patrick; Williamson, Kathy; Gautier, Philippe; McGill, Niolette; Hayward, Caroline; Firth, Helen; Markham, Alex F; Fantes, Judy A; Bonthron, David T

    2003-10-01

    Cytogenetic evidence, in the form of deletions and balanced translocations, points to the existence of a locus on 2q32-q33, for which haploinsufficiency results in isolated cleft palate (CPO). Here we show by high-resolution FISH mapping of two de novo CPO-associated translocations involving 2q32-q33 that one breakpoint interrupts the transcription unit of the gene encoding the DNA-binding protein SATB2 (formerly KIAA1034). The breakpoint in the other translocation is located 130 kb 3' to the SATB2 polyadenylation signal, within a conserved region of non-coding DNA. The SATB2 gene is transcribed in a telomeric to centromeric direction and lies in a gene-poor region of 2q32-q33; the nearest confirmed gene is 1.26 Mb centromeric to the SATB2 polyadenylation signal. SATB2-encoding transcripts are assembled from 11 exons that span 191 kb of genomic DNA. They encode a protein of 733 amino acids that has two CUT domains and a homeodomain and shows a remarkable degree of evolutionary conservation, with only three amino acid substitutions between mouse and human. This protein belongs to the same family as SATB1, a nuclear matrix-attachment region binding protein implicated in transcriptional control and control of chromatin remodelling. There are also sequence similarities to the Drosophila protein DVE. Whole mount in situ hybridization to mouse embryos shows site- and stage-specific expression of SATB2 in the developing palate. Despite the strong evidence supporting an important role for SATB2 in palate development, mutation analysis of 70 unrelated patients with CPO did not reveal any coding region variants. PMID:12915443

  17. De novo interstitial deletion q16.2q21 on chromosome 6

    SciTech Connect

    Villa, A.; Urioste, M.; Luisa, M.

    1995-01-30

    A de novo interstitial deletion of 6q16.2q21 was observed in a 23-month-old boy with mental and psychomotor delay, obese appearance, minor craniofacial anomalies, and brain anomalies. We compare clinical manifestations of this patient with those observed in previously reported cases with similar 6q interstitial deletions. It is interesting to note the clinical similarities between some patients with interstitial deletions of 6q16 or q21 bands and patients with Prader-Willi syndrome (PWS) and it may help to keep in mind cytogenetic studies of patients with some PWS findings. 24 refs., 3 figs., 2 tabs.

  18. Capitulation in Abelian extensions of some fields ℚ (√{p1p2q , }i )

    NASA Astrophysics Data System (ADS)

    Azizi, Abdelmalek; Zekhnini, Abdelkader; Taous, Mohammed

    2016-02-01

    We study the capitulation of the 2-ideal classes of an infinite family of imaginary biquadratic number fields consisting of fields k =ℚ (√{p1p2q , }i ), where i =√{-1 } and p1 ≡ p2 ≡ -q ≡ 1 (mod 4) are different primes. For each of the three quadratic extensions K /k inside the absolute genus field k(*) of k , we compute the capitulation kernel of K /k . Then we deduce that each strongly ambiguous class of k /ℚ (i ) capitulates already in k(*), which is smaller than the relative genus field (k/ℚ (i )) *.

  19. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

    PubMed Central

    Bayés, M; Goldaracena, B; Martínez-Mir, A; Iragui-Madoz, M I; Solans, T; Chivelet, P; Bussaglia, E; Ramos-Arroyo, M A; Baiget, M; Vilageliu, L; Balcells, S; Gonzàlez-Duarte, R; Grinberg, D

    1998-01-01

    Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous disease. To date, mutations in four members of the phototransduction cascade have been implicated in ARRP. Additionally, linkage of the disease to three loci on 1p, 1q, and 6p has been described. However, the majority of cases are still uncharacterised. We have performed linkage analysis in a large nuclear ARRP family with five affected sibs. After exclusion of several regions of the genome known to contain loci for retinal dystrophies, a genomic search for linkage to ARRP was undertaken. Positive lod scores were obtained with markers on 2q31-q33 (Zmax at theta = 0.00 of 4.03, 4.12, and 4.12 at D2S364, D2S118, and D2S389, respectively) defining an interval of about 7 cM for this new ARRP locus, between D2S148 and D2S161. Forty-four out of 47 additional ARRP families, tested with markers on 2q32, failed to show linkage, providing evidence of further genetic heterogeneity. Images PMID:9507394

  20. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q

    SciTech Connect

    Fouad, G.T.; Durcan, S.; Ptacek, L.J.

    1996-07-01

    Dyskinesias are hyperkinetic and involuntary movements that may result from any of a number of different genetic, infectious, and drug-induced causes. Some of the hereditary dyskinetic syndromes are characterized by paroxysmal onset of the abnormal movements. The classification of the familial paroxysmal dyskinesias (FPD) recognizes several distinct, although overlapping, phenotypes. Different forms of the disorder include attacks that are (1) induced by sudden movement (kinesiogenic); (2) spontaneous (non-kinesiogenic); and (3) induced by prolonged periods of exertion. Linkage analysis was pursued in a family segregating an autosomal dominant allele for non-kinesiogenic FPD. The disease allele was mapped to a locus on chromosome 2q31-36 (LOD score 4.64, {theta} = 0). Identification of distinct genetic loci for the paroxysmal dyskinesias will lead to a new genetic classification and to better understanding of these disorders. 26 refs., 2 figs., 1 tab.

  1. A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability.

    PubMed

    Kasnauskiene, Jurate; Ciuladaite, Zivile; Preiksaitiene, Egle; Utkus, Algirdas; Peciulyte, Agnė; Kučinskas, Vaidutis

    2013-06-01

    We report on a 15-year-old patient with hyperactivity, intellectual disability and severe speech developmental delay. An array CGH analysis revealed de novo 2q34 deletion, 958 kb in size, involving a single protein coding gene ERBB4 (position 212,505,294-213,463,152; NCBI build 36). The ERBB4 gene is important in numerous neurobiological processes in both the developing and the adult brain. The NRG1-ERBB4 signaling pathway has been recently implicated in the pathophysiology of schizophrenia and epilepsy. Many risk haplotypes were identified in several studies across different populations. The severe clinical consequences in our patient demonstrate that the haploinsufficiency of ERBB4 is crucial for intellectual and cognitive function. These observations are compatible with previously reported results. PMID:23633123

  2. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11. 2-q12

    SciTech Connect

    Ramsay, M.; Colman, M.A.; Stevens, G.; Zwane, E.; Kromberg, J.; Jenkins, T. ); Garral, M.

    1992-10-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common type of albinism occurring worldwide. In southern African Bantu-speaking negroids it has an overall prevalence of about 1/3,900. Since the basic biochemical defect is unknown, a linkage study with candidate loci, candidate chromosomal regions, and random loci was undertaken. The ty-pos OCA locus was found to be linked to two arbitrary loci, D15S10 and D15S13, in the Prader-Willi/Angelman chromosomal region on chromosome 15q11.2-q12. The pink-eyed dilute locus, p, on mouse chromosome 7, maps close to a region of homology on human chromosome 15q, and we postulate that the ty-pos OCA and p loci are homologous. 43 refs., 2 figs., 1 tab.

  3. Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.

    PubMed Central

    Günel, M; Awad, I A; Anson, J; Lifton, R P

    1995-01-01

    Cerebral cavernous malformation is a common disease of the brain vasculature of unknown cause characterized by dilated thin-walled sinusoidal vessels (caverns); these lesions cause varying clinical presentations which include headache, seizure, and hemorrhagic stroke. This disorder is frequently familial, with autosomal dominant inheritance. Using a general linkage approach in two extended cavernous malformation kindreds, we have identified linkage of this trait to chromosome 7q11.2-q21. Multipoint linkage analysis yields a peak logarithm of odds (lod) score of 6.88 with zero recombination with locus D7S669 and localizes the gene to a 7-cM region in the interval between loci ELN and D7S802. Images Fig. 1 Fig. 2 PMID:7604043

  4. Failure to thrive as primary feature in two patients with subtle chromosomal aneuploidy: Interstitial deletion 2q33

    SciTech Connect

    Grace, K.; Mulla, W.; Stump, T.

    1994-09-01

    It is well known that patients with chromosomal aneuploidy present with multiple congenital anomalies and dysmorphia, and that they may have associated failure to thrive. However, rarely is failure to thrive the predominant presenting feature. We report two such patients. Patient 1 had a marked history of failure to thrive, (weight 50% for 5 1/2 months at 20 months, length 50% for 15 months at 20 months). Patient 2 was noted to be growth retarded at 2 months upon presenting to the hospital with respiratory symptoms (weight 50% for a newborn, length 50% for 36 weeks gestation). There was relative head sparing in both patients. Chromosome analysis in patient 1, prompted by a negative work-up for the failure to thrive, and emerging evidence of developmental delay, revealed a 46,XY,del(2)(q32.2q33) karyotype. Chromosome analysis in patient 2, done as part of a complete workup for the failure to thrive, revealed a 46,XX,del(2)(q33.2q33.2 or q33.2q33.3) karyotype. On careful examination, subtle dysmorphic features were seen. In both patients these included a long flat philtrum, thin upper lip and high arched palate. Patient 1 also had a small posterior cleft of the palate. These patients have the smallest interstitial deletions of chromosome 2 so far reported. Their deletions overlap within 2q33 although they are not identical. Review of the literature reveals 15 patients with interstitial deletions which include 2q33. Marked growth retardation is reported in 14 of these cases. Cleft palate/abnormal uvula were frequently associated. These cases illustrate the need to include high resolution chromosomal studies as part of a complete work-up for unexplained failure to thrive.

  5. Regional assignment of the human homebox-containing gene EN1 to chromosome 2q13-q21

    SciTech Connect

    Koehler, A.; Muenke, M. ); Logan, C. ); Joyner, A.L. Samuel Lunenfeld Research Institute, Toronto )

    1993-01-01

    The human homeobox-containing genes EN1 and EN2 are closely related to the Drosophila pattern formation gene engrailed (en), which may be important in brain development, as shown by gene expression studies during mouse embryogenesis. Here, we have refined the localization of EN1 to human chromosome 2q13-q21 using a mapping panel of rodent/human cell hybrids containing different regions of chromosome 2 and a lymphoblastoid cell line with an interstitial deletion, del(2) (q21-q23.2). This regional assignment of EN1 increases to 22 the number of currently known genes on human chromosome 2q that have homologs on the proximal region of mouse chromosome 1. 15 refs., 2 figs.

  6. Del(18)(q12.2q21.1) syndrome: a case report and clinical review of the literature.

    PubMed

    Imataka, G; Ohwada, Y; Shimura, N; Yoshihara, S; Arisaka, O

    2015-09-01

    The terminal deletion of the long arm of chromosome 18 is relatively common among cytogenetic abnormalities, which occur incidentally in approximately 1 in 40,000 live births. Proximal interstitial deletions of the long arm of chromosome 18 are less frequent. The critical region on chromosome 18 of this syndrome is del(18)(q12.2q21.1) and has recently been recognized as a new clinical entity. We describe a 8-year-old boy with developmental delay, obesity, and epilepsy, with characteristic facial anomalies in whom G-banding chromosome analysis revealed a unique karyotype of 46, XY, del(18)(q12.2q21.1). The patient was diagnosed with interstitial deletion chromosome 18q-syndrome. He received weight control therapy from a medical dietitian. For his epilepsy, he was administered oral carbamazepine at 4 mg/kg/day. At age six, he entered a special needs elementary school. After entering school, he often showed hyperkinesis, and was diagnosed with attention deficit hyperactivity disorder with mild mental retardation. Because patients with only del(18)(q12.2q21.1) have no serious associated malformations, physicians should be aware that even adult patients may have 18q-syndrome. Therefore, if epilepsy occurs in patients with minor facial anomalies, psychomotor retardation, obesity, and the possibility of 18q-syndrome with del(18)(q12.2q21.1) should be kept in mind, and chromosome testing should be performed. PMID:26400529

  7. Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

    PubMed Central

    Rosenfeld, Jill A.; Ballif, Blake C.; Lucas, Ann; Spence, Edward J.; Powell, Cynthia; Aylsworth, Arthur S.; Torchia, Beth A.; Shaffer, Lisa G.

    2009-01-01

    Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In this study we describe three individuals with smaller microdeletions of this region, within 2q33.1. The deletions ranged in size from 173.1 kb to 185.2 kb and spanned part of SATB2. Review of clinical records showed similar clinical features among these individuals, including severe developmental delay and tooth abnormalities. Two of the individuals had behavioral problems. Only one of the subjects presented here had a cleft palate, suggesting reduced penetrance for this feature. Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome. PMID:19668335

  8. Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes.

    PubMed

    Sandholm, Niina; McKnight, Amy Jayne; Salem, Rany M; Brennan, Eoin P; Forsblom, Carol; Harjutsalo, Valma; Mäkinen, Ville-Petteri; McKay, Gareth J; Sadlier, Denise M; Williams, Winfred W; Martin, Finian; Panduru, Nicolae Mircea; Tarnow, Lise; Tuomilehto, Jaakko; Tryggvason, Karl; Zerbini, Gianpaolo; Comeau, Mary E; Langefeld, Carl D; Godson, Catherine; Hirschhorn, Joel N; Maxwell, Alexander P; Florez, Jose C; Groop, Per-Henrik

    2013-10-01

    Sex and genetic variation influence the risk of developing diabetic nephropathy and ESRD in patients with type 1 diabetes. We performed a genome-wide association study in a cohort of 3652 patients from the Finnish Diabetic Nephropathy (FinnDiane) Study with type 1 diabetes to determine whether sex-specific genetic risk factors for ESRD exist. A common variant, rs4972593 on chromosome 2q31.1, was associated with ESRD in women (P<5×10(-8)) but not in men (P=0.77). This association was replicated in the meta-analysis of three independent type 1 diabetes cohorts (P=0.02) and remained significant for women (P<5×10(-8); odds ratio, 1.81 [95% confidence interval, 1.47 to 2.24]) upon combined meta-analysis of the discovery and replication cohorts. rs4972593 is located between the genes that code for the Sp3 transcription factor, which interacts directly with estrogen receptor α and regulates the expression of genes linked to glomerular function and the pathogenesis of nephropathy, and the CDCA7 transcription factor, which regulates cell proliferation. Further examination revealed potential transcription factor-binding sites within rs4972593 and predicted eight estrogen-responsive elements within 5 kb of this locus. Moreover, we found sex-specific differences in the glomerular expression levels of SP3 (P=0.004). Overall, these results suggest that rs4972593 is a sex-specific genetic variant associated with ESRD in patients with type 1 diabetes and may underlie the sex-specific protection against ESRD. PMID:24029427

  9. Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.

    PubMed

    Neubert, Gerda; von Au, Katja; Drossel, Katrin; Tzschach, Andreas; Horn, Denise; Nickel, Renate; Kaindl, Angela M

    2013-01-10

    Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, severe speech disorder, facial dysmorphism, secondary microcephaly, ataxia, seizures, and abnormal behaviors such as easily provoked laughter. It is most frequently caused by a de novo maternal deletion of chromosome 15q11-q13 (about 70-90%), but can also be caused by paternal uniparental disomy of chromosome 15q11-q13 (3-7%), an imprinting defect (2-4%) or in mutations in the ubiquitin protein ligase E3A gene UBE3A mostly leading to frame shift mutation. In addition, for patients with overlapping clinical features (Angelman-like syndrome), mutations in methyl-CpG binding protein 2 gene MECP2 and cyclin-dependent kinase-like 5 gene CDKL5 as well as a microdeletion of 2q23.1 including the methyl-CpG binding domain protein 5 gene MBD5 have been described. Here, we describe a patient who carries a de novo 5Mb-deletion of chromosome 15q11.2-q13.1 known to be associated with Angelman syndrome and a further, maternally inherited deletion 2q21.3 (~364kb) of unknown significance. In addition to classic features of Angelman syndrome, she presented with severe infections in the first year of life, a symptom that has not been described in patients with Angelman syndrome. The 15q11.2-q13.1 deletion contains genes critical for Prader-Willi syndrome, the Angelman syndrome causing genes UBE3A and ATP10A/C, and several non-imprinted genes: GABRB3 and GABRA5 (both encoding subunits of GABA A receptor), GOLGA6L2, HERC2 and OCA2 (associated with oculocutaneous albinism II). The deletion 2q21.3 includes exons of the genes RAB3GAP1 (associated with Warburg Micro syndrome) and ZRANB3 (not disease-associated). Despite the normal phenotype of the mother, the relevance of the 2q21.3 microdeletion for the phenotype of the patient cannot be excluded, and further case reports will need to address this point. PMID:23124039

  10. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

    PubMed Central

    Isles, Anthony R.; Ingason, Andrés; Lowther, Chelsea; Gawlick, Micha; Stöber, Gerald; Potter, Harry; Georgieva, Lyudmila; Pizzo, Lucilla; Ozaki, Norio; Kushima, Itaru; Ikeda, Masashi; Iwata, Nakao; Levinson, Douglas F.; Gejman, Pablo V.; Shi, Jianxin; Sanders, Alan R.; Duan, Jubao; Sisodiya, Sanjay; Costain, Gregory; Degenhardt, Franziska; Giegling, Ina; Rujescu, Dan; Hreidarsson, Stefan J.; Saemundsen, Evald; Ahn, Joo Wook; Ogilvie, Caroline; Stefansson, Hreinn; Stefansson, Kari; O’Donovan, Michael C.; Owen, Michael J.; Bassett, Anne; Kirov, George

    2016-01-01

    Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA), but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15) or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of maternally

  11. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.

    PubMed

    Isles, Anthony R; Ingason, Andrés; Lowther, Chelsea; Walters, James; Gawlick, Micha; Stöber, Gerald; Rees, Elliott; Martin, Joanna; Little, Rosie B; Potter, Harry; Georgieva, Lyudmila; Pizzo, Lucilla; Ozaki, Norio; Aleksic, Branko; Kushima, Itaru; Ikeda, Masashi; Iwata, Nakao; Levinson, Douglas F; Gejman, Pablo V; Shi, Jianxin; Sanders, Alan R; Duan, Jubao; Willis, Joseph; Sisodiya, Sanjay; Costain, Gregory; Werge, Thomas M; Degenhardt, Franziska; Giegling, Ina; Rujescu, Dan; Hreidarsson, Stefan J; Saemundsen, Evald; Ahn, Joo Wook; Ogilvie, Caroline; Girirajan, Santhosh D; Stefansson, Hreinn; Stefansson, Kari; O'Donovan, Michael C; Owen, Michael J; Bassett, Anne; Kirov, George

    2016-05-01

    Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA), but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15) or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of maternally

  12. Constraints on the combined models with R^{2-q} inflation and viable f(R) dark energy

    NASA Astrophysics Data System (ADS)

    Geng, Chao-Qiang; Lee, Chung-Chi; Lin, Shan

    2015-11-01

    We investigate the observational constraints on the modified gravity, which combines the R^{2-q} inflation with the power-law (exponential) type of the viable f(R) dark energy models. We discuss the difference between the combined model and R^{2-q} gravity in the inflationary epoch and obtain the constraints on the deviation power q as well as the parameters in f(R) by using the CosmoMC package. The allowed ranges of the spectral index and tensor-to-scalar ratio from the Planck data are highly restricted, resulting in q < 2.66 ×10^{-2} and 2.17 ×10^{-2} for the power-law and exponential types of f(R) gravity, respectively.

  13. Fine-mapping the 2q37 and 17q11.2-q22 loci for novel genes and sequence variants associated with a genetic predisposition to prostate cancer.

    PubMed

    Laitinen, Virpi H; Rantapero, Tommi; Fischer, Daniel; Vuorinen, Elisa M; Tammela, Teuvo L J; Wahlfors, Tiina; Schleutker, Johanna

    2015-05-15

    The 2q37 and 17q12-q22 loci are linked to an increased prostate cancer (PrCa) risk. No candidate gene has been localized at 2q37 and the HOXB13 variant G84E only partially explains the linkage to 17q21-q22 observed in Finland. We screened these regions by targeted DNA sequencing to search for cancer-associated variants. Altogether, four novel susceptibility alleles were identified. Two ZNF652 (17q21.3) variants, rs116890317 and rs79670217, increased the risk of both sporadic and hereditary PrCa (rs116890317: OR = 3.3-7.8, p = 0.003-3.3 × 10(-5) ; rs79670217: OR = 1.6-1.9, p = 0.002-0.009). The HDAC4 (2q37.2) variant rs73000144 (OR = 14.6, p = 0.018) and the EFCAB13 (17q21.3) variant rs118004742 (OR = 1.8, p = 0.048) were overrepresented in patients with familial PrCa. To map the variants within 2q37 and 17q11.2-q22 that may regulate PrCa-associated genes, we combined DNA sequencing results with transcriptome data obtained by RNA sequencing. This expression quantitative trait locus (eQTL) analysis identified 272 single-nucleotide polymorphisms (SNPs) possibly regulating six genes that were differentially expressed between cases and controls. In a modified approach, prefiltered PrCa-associated SNPs were exploited and interestingly, a novel eQTL targeting ZNF652 was identified. The novel variants identified in this study could be utilized for PrCa risk assessment, and they further validate the suggested role of ZNF652 as a PrCa candidate gene. The regulatory regions discovered by eQTL mapping increase our understanding of the relationship between regulation of gene expression and susceptibility to PrCa and provide a valuable starting point for future functional research. PMID:25335771

  14. Fine-mapping the 2q37 and 17q11.2-q22 Loci for Novel Genes and Sequence Variants Associated with a Genetic Predisposition to Prostate Cancer

    PubMed Central

    Laitinen, Virpi H.; Rantapero, Tommi; Fischer, Daniel; Vuorinen, Elisa M.; Tammela, Teuvo L.J.; Wahlfors, Tiina; Schleutker, Johanna

    2014-01-01

    The 2q37 and 17q12-q22 loci are linked to an increased prostate cancer (PrCa) risk. No candidate gene has been localized at 2q37 and the HOXB13 variant G84E only partially explains the linkage to 17q21-q22 observed in Finland. We screened these regions by targeted DNA sequencing to search for cancer-associated variants. Altogether, four novel susceptibility alleles were identified. Two ZNF652 (17q21.3) variants, rs116890317 and rs79670217, increased the risk of both sporadic and hereditary PrCa (rs116890317: OR = 3.3 – 7.8, P = 0.003 – 3.3 × 10−5; rs79670217: OR = 1.6 – 1.9, P = 0.002 – 0.009). The HDAC4 (2q37.2) variant rs73000144 (OR = 14.6, P = 0.018) and the EFCAB13 (17q21.3) variant rs118004742 (OR = 1.8, P = 0.048) were overrepresented in patients with familial PrCa. To map the variants within 2q37 and 17q11.2-q22 that may regulate PrCa-associated genes, we combined DNA sequencing results with transcriptome data obtained by RNA sequencing. This expression quantitative trait locus (eQTL) analysis identified 272 SNPs possibly regulating six genes that were differentially expressed between cases and controls. In a modified approach, pre-filtered PrCa-associated SNPs were exploited and interestingly, a novel eQTL targeting ZNF652 was identified. The novel variants identified in this study could be utilized for PrCa risk assessment, and they further validate the suggested role of ZNF652 as a PrCa candidate gene. The regulatory regions discovered by eQTL mapping increase our understanding of the relationship between regulation of gene expression and susceptibility to PrCa and provide a valuable starting point for future functional research. PMID:25335771

  15. Mild phenotype associated with Inv Dup 8 (q21.2-q22.3) of maternal origin

    SciTech Connect

    Tupler, R.; Pagliano, E.; Barbierato, L.

    1996-03-15

    We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings from individuals with partial dup(8q). 6 refs., 4 figs.

  16. Autistic and Rett-like features associated with 2q33.3-q34 interstitial deletion.

    PubMed

    Jang, Dae-Hyun; Chae, Hyojin; Kim, Myungshin

    2015-09-01

    We describe the fourth reported case of a de novo 2q33.3-q34 interstitial deletion and review the literature in attempt to identify relevant candidate genes. A 15-month-old female patient presented for evaluation with poor eye contact and developmental delay. She had microcephaly and mild dysmorphic features, such as downslanting palpebral fissures, high forehead, small mouth, high palate, and general hypotonia. At 30 months of age, she was referred to the genetic clinic for an evaluation of persistent developmental delay, autistic traits, and Rett-like features, including bruxism and repetitive movement of the left hand. Chromosome analysis revealed 46,XX at the 550 band level. No abnormalities were found on analysis of MECP2 gene for Rett syndrome and a DNA methylation test for Prader-Willi syndrome. An array comparative genomic hybridization analysis revealed a de novo 2q33.3-q34 heterozygous deletion (206,048,173-211,980,867). The deletion was estimated to be 5.9 Mb in size and contained 34 known genes. Candidate genes were identified as NRP2, ADAM23, KLF7, CREB1, MAP2, UNC80, and LANCL1 for the 2q33.3-q34 interstitial deletion. PMID:25899208

  17. Genome-Wide Association Study for Type 2 Diabetes in Indians Identifies a New Susceptibility Locus at 2q21

    PubMed Central

    Tabassum, Rubina; Chauhan, Ganesh; Dwivedi, Om Prakash; Mahajan, Anubha; Jaiswal, Alok; Kaur, Ismeet; Bandesh, Khushdeep; Singh, Tejbir; Mathai, Benan John; Pandey, Yogesh; Chidambaram, Manickam; Sharma, Amitabh; Chavali, Sreenivas; Sengupta, Shantanu; Ramakrishnan, Lakshmi; Venkatesh, Pradeep; Aggarwal, Sanjay K.; Ghosh, Saurabh; Prabhakaran, Dorairaj; Srinath, Reddy K.; Saxena, Madhukar; Banerjee, Monisha; Mathur, Sandeep; Bhansali, Anil; Shah, Viral N.; Madhu, Sri Venkata; Marwaha, Raman K.; Basu, Analabha; Scaria, Vinod; McCarthy, Mark I.; Venkatesan, Radha; Mohan, Viswanathan; Tandon, Nikhil; Bharadwaj, Dwaipayan

    2013-01-01

    Indians undergoing socioeconomic and lifestyle transitions will be maximally affected by epidemic of type 2 diabetes (T2D). We conducted a two-stage genome-wide association study of T2D in 12,535 Indians, a less explored but high-risk group. We identified a new type 2 diabetes–associated locus at 2q21, with the lead signal being rs6723108 (odds ratio 1.31; P = 3.32 × 10−9). Imputation analysis refined the signal to rs998451 (odds ratio 1.56; P = 6.3 × 10−12) within TMEM163 that encodes a probable vesicular transporter in nerve terminals. TMEM163 variants also showed association with decreased fasting plasma insulin and homeostatic model assessment of insulin resistance, indicating a plausible effect through impaired insulin secretion. The 2q21 region also harbors RAB3GAP1 and ACMSD; those are involved in neurologic disorders. Forty-nine of 56 previously reported signals showed consistency in direction with similar effect sizes in Indians and previous studies, and 25 of them were also associated (P < 0.05). Known loci and the newly identified 2q21 locus altogether explained 7.65% variance in the risk of T2D in Indians. Our study suggests that common susceptibility variants for T2D are largely the same across populations, but also reveals a population-specific locus and provides further insights into genetic architecture and etiology of T2D. PMID:23209189

  18. Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy.

    PubMed

    Xia, Geqing; P Pourali, Sarah; Warner, Timothy A; Zhang, Chun-Qing; L Macdonald, Robert; Kang, Jing-Qiong

    2016-07-01

    Sudden unexpected death in epilepsy (SUDEP) is the leading cause for death in individuals with epilepsy. The frequency of SUDEP correlates with the severity of epilepsies and lack of response to antiepileptic drug treatment, but the underlying mechanisms of SUDEP have not been elucidated fully. GABRG2(Q390X) is a mutation associated with the epileptic encephalopathy Dravet syndrome (DS) and with genetic epilepsy with febrile seizures plus (GEFS+) in patients. The Gabrg2(+/Q390X) knockin (KI) mouse phenocopies the major features of DS and GEFS+ and has SUDEP throughout life. The Gabrg2(+/-) knockout (KO) mouse is associated with infrequent absence seizures and represents a model of mild absence epilepsy syndrome without increased mortality. To explore the basis for SUDEP in DS and GEFS+, we compared mutant γ2 subunit and wild-type α1 and β2/3 subunit expression in mice in brainstem nuclei associated with respiratory function including the solitary tract, pre-Botzinger complex and Kolliker-Fuse nuclei. We found that synaptic GABAA receptors were reduced while intracellular nonfunctional γ2(Q390X) subunits were increased in the heterozygous DS and GEFS+ KI mice, but not in the heterozygous absence epilepsy KO mice. Given the critical role of these nuclei in cardiorespiratory function, it is likely the impaired GABAergic transmission and neuronal dysfunction in these brainstem nuclei are involved in the cardiorespiratory collapse in SUDEP. The study provides novel mechanistic insights into cardiorespiratory failure of SUDEP. PMID:27131289

  19. Partial trisomy 2q due to a maternal balanced translocation t(2;22) (q31;p12)

    SciTech Connect

    Steinberg, L.S.; Bleiman, M.; Punnett, H.H.

    1994-09-01

    Features consistent among reported patients with 2q duplications due to familial translocations or de novo duplications include pre- and postnatal growth failure, ocular defects such as congenital glaucoma, cardiac defects, micrognathia, urogenital defects, renal defects, connective tissue laxity, neurologic defects, and dermatologic abnormalities. Genotype/phenotype correlations of patients with trisomy 2q due to familial translocations are complicated by the presence of the deletions of the other chromosome involved. We have had the opportunity to observe `pure` trisomy 2q31-qter resulting from adjacent-1 segregation from 46,XX,t(2;22)(q31;p12) in a carrier mother with apparent loss of the 22 NOR region. He was the 2453 gm product of a gestation complicated by gestational diabetes to a 29-year-old G1 P0 mother and a 30-year-old father. At birth, he was noted to have hypotonia, micrognathia, microphthalmia, left cryptorchidism, hypospadias, bilateral clinodactyly of the fifth digits, mild hyperextensibility of the joints, dry skin disorder, and bilateral hydronephrosis by ultrasound. He was treated for hypoglycemia in the nursery and had a vesicostomy at two months for vesicoureteral reflux. A hearing test at two months found moderate hearing loss in the right ear and mild to moderate hearing loss in the left ear. At 3 months he had surgery for a PDA and bilateral glaucoma and was treated for periods of hypothermia and type IV renal tubular acidosis. This patient and others with unbalanced translocations involving the NOR region of an acrocentric chromosome allow for genotype/phenotype correlation of the `pure` trisomic region.

  20. Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size.

    PubMed

    Fisch, Gene S; Falk, Rena E; Carey, John C; Imitola, Jaime; Sederberg, Maria; Caravalho, Karen S; South, Sarah

    2016-09-01

    Subtelomeric deletions have been reported in ∼2.5% of individuals with developmental disabilities. Subtelomeric deletion 2q37 has been detected in many individuals diagnosed with intellectual disabilities (ID) and autism spectrum disorders (ASD). Previously, genotype-phenotype correspondences were examined for their relationship to breakpoints 37.1, 37.2, or 37.3. Our purpose was to ascertain whether there were phenotypic differences at these breakpoints, elucidate the cognitive-behavioral phenotype in del2q37, and examine the genotype-phenotype association in the deletion with respect to cognitive-behavioral profiles and ASD. We administered a comprehensive cognitive-behavioral battery to nine children diagnosed with del 2q37, ages 3.9-17.75 years. ID for five tested with the Stanford-Binet (4th Edition) (SBFE) ranged from severe to mild [IQ Range: 36-59]. Adaptive behavior scores from the Vineland Adaptive Behavior Scale (VABS) were much below adequate levels (DQ Range: floor value ["19"] to 55). Autism scores from the Child Autism Rating Scale (CARS) ranged from 22 [non-autistic] to 56 [extremely autistic]; 5/8 [63%] children received scores on the autism spectrum. Participants with the largest deletions, 10.1 and 9.5 Mb, attained the highest IQ and DQ scores while those with the smallest deletions, 7.9 and 6.6 Mb, made the lowest IQ and DQ scores. No association between deletion breakpoint and phenotype were found. Assessment of the various deleted regions suggested histone deacetylase 4 gene (HDAC4) was a likely candidate gene for ASD in our sample. However, two earlier reports found no association between HDAC4 haploinsufficiency and ASD. © 2016 Wiley Periodicals, Inc. PMID:27282419

  1. Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.

    PubMed

    Tabassum, Rubina; Chauhan, Ganesh; Dwivedi, Om Prakash; Mahajan, Anubha; Jaiswal, Alok; Kaur, Ismeet; Bandesh, Khushdeep; Singh, Tejbir; Mathai, Benan John; Pandey, Yogesh; Chidambaram, Manickam; Sharma, Amitabh; Chavali, Sreenivas; Sengupta, Shantanu; Ramakrishnan, Lakshmi; Venkatesh, Pradeep; Aggarwal, Sanjay K; Ghosh, Saurabh; Prabhakaran, Dorairaj; Srinath, Reddy K; Saxena, Madhukar; Banerjee, Monisha; Mathur, Sandeep; Bhansali, Anil; Shah, Viral N; Madhu, Sri Venkata; Marwaha, Raman K; Basu, Analabha; Scaria, Vinod; McCarthy, Mark I; Venkatesan, Radha; Mohan, Viswanathan; Tandon, Nikhil; Bharadwaj, Dwaipayan

    2013-03-01

    Indians undergoing socioeconomic and lifestyle transitions will be maximally affected by epidemic of type 2 diabetes (T2D). We conducted a two-stage genome-wide association study of T2D in 12,535 Indians, a less explored but high-risk group. We identified a new type 2 diabetes-associated locus at 2q21, with the lead signal being rs6723108 (odds ratio 1.31; P = 3.32 × 10⁻⁹). Imputation analysis refined the signal to rs998451 (odds ratio 1.56; P = 6.3 × 10⁻¹²) within TMEM163 that encodes a probable vesicular transporter in nerve terminals. TMEM163 variants also showed association with decreased fasting plasma insulin and homeostatic model assessment of insulin resistance, indicating a plausible effect through impaired insulin secretion. The 2q21 region also harbors RAB3GAP1 and ACMSD; those are involved in neurologic disorders. Forty-nine of 56 previously reported signals showed consistency in direction with similar effect sizes in Indians and previous studies, and 25 of them were also associated (P < 0.05). Known loci and the newly identified 2q21 locus altogether explained 7.65% variance in the risk of T2D in Indians. Our study suggests that common susceptibility variants for T2D are largely the same across populations, but also reveals a population-specific locus and provides further insights into genetic architecture and etiology of T2D. PMID:23209189

  2. Multistudy Fine Mapping of Chromosome 2q Identifies XRCC5 as a Chronic Obstructive Pulmonary Disease Susceptibility Gene

    PubMed Central

    Hersh, Craig P.; Pillai, Sreekumar G.; Zhu, Guohua; Lomas, David A.; Bakke, Per; Gulsvik, Amund; DeMeo, Dawn L.; Klanderman, Barbara J.; Lazarus, Ross; Litonjua, Augusto A.; Sparrow, David; Reilly, John J.; Agusti, Alvar; Calverley, Peter M. A.; Donner, Claudio F.; Levy, Robert D.; Make, Barry J.; Paré, Peter D.; Rennard, Stephen I.; Vestbo, Jørgen; Wouters, Emiel F. M.; Scholand, Mary Beth; Coon, Hilary; Hoidal, John; Silverman, Edwin K.

    2010-01-01

    Rationale: Several family-based studies have identified genetic linkage for lung function and airflow obstruction to chromosome 2q. Objectives: We hypothesized that merging results of high-resolution single nucleotide polymorphism (SNP) mapping in four separate populations would lead to the identification of chronic obstructive pulmonary disease (COPD) susceptibility genes on chromosome 2q. Methods: Within the chromosome 2q linkage region, 2,843 SNPs were genotyped in 806 COPD cases and 779 control subjects from Norway, and 2,484 SNPs were genotyped in 309 patients with severe COPD from the National Emphysema Treatment Trial and 330 community control subjects. Significant associations from the combined results across the two case-control studies were followed up in 1,839 individuals from 603 families from the International COPD Genetics Network (ICGN) and in 949 individuals from 127 families in the Boston Early-Onset COPD Study. Measurements and Main Results: Merging the results of the two case-control analyses, 14 of the 790 overlapping SNPs had a combined P < 0.01. Two of these 14 SNPs were consistently associated with COPD in the ICGN families. The association with one SNP, located in the gene XRCC5, was replicated in the Boston Early-Onset COPD Study, with a combined P = 2.51 × 10−5 across the four studies, which remains significant when adjusted for multiple testing (P = 0.02). Genotype imputation confirmed the association with SNPs in XRCC5. Conclusions: By combining data from COPD genetic association studies conducted in four independent patient samples, we have identified XRCC5, an ATP-dependent DNA helicase, as a potential COPD susceptibility gene. PMID:20463177

  3. The human interleukin-1 receptor antagonist (IL1RN) gene is located in the chromosome 2q14 region

    SciTech Connect

    Patterson, D.; Jones, C.; Hart, I.; Bleskan, J.; Berger, R.; Geyer, D. ); Eisenberg, S.P. ); Smith, M.F. Jr.; Arend, W.P. )

    1993-01-01

    The gene for human interleukin-1 receptor antagonist (IL1RN) has been assigned to chromosome 2 on the basis of Southern blot analysis of a series of human-Chinese hamster cell hybrids. Using a yeast artificial chromosome containing the IL1RN gene as a probe, the human IL1RN gene was localized to the long arm of chromosome 2 at band 2q14.2 by fluorescence in situ hybridization. This site is near the positions of genes for human IL-l[alpha], IL-1[beta], and types I and II IL-1 receptors, as reported by other laboratories. 23 refs., 1 fig., 1 tab.

  4. HYDRAULIC CONDUCTIVITY OF SALTSTONE FORMULATED USING 1Q11, 2Q11 AND 3Q11 TANK 50 SLURRY SAMPLES

    SciTech Connect

    Reigel, M.; Nichols, R.

    2012-06-27

    As part of the Saltstone formulation work requested by Waste Solidification Engineering (WSE), Savannah River National Laboratory (SRNL) was tasked with preparing Saltstone samples for fresh property analysis and hydraulic conductivity measurements using actual Tank 50 salt solution rather than simulated salt solution. Samples of low level waste salt solution collected from Tank 50H during the first, second, and third quarters of 2011 were used to formulate the Saltstone samples. The salt solution was mixed with premix (45 wt % slag, 45 wt % fly ash, and 10 wt % cement), in a ratio consistent with facility operating conditions during the quarter of interest. The fresh properties (gel, set, bleed) of each mix were evaluated and compared to the recommended acceptance criteria for the Saltstone Production Facility. ASTM D5084-03, Method C was used to measure the hydraulic conductivity of the Saltstone samples. The hydraulic conductivity of Saltstone samples prepared from 1Q11 and 2Q11 samples of Tank 50H is 4.2E-9 cm/sec and 2.6E-9 cm/sec, respectively. Two additional 2Q11 and one 3Q11 sample were not successfully tested due to the inability to achieve stable readings during saturation and testing. The hydraulic conductivity of the samples made from Tank 50H salt solution compare well to samples prepared with simulated salt solution and cured under similar conditions (1.4E-9 - 4.9E-8 cm/sec).

  5. Induction of cell proliferation, clonogenicity and cell accumulation in S phase as a consequence of human UBE2Q1 overexpression

    PubMed Central

    Fahmidehkar, Mohammad Ali; Shafiee, Sayed Mohammad; Eftekhar, Ebrahim; Mahbudi, Laleh; Seghatoleslam, Atefeh

    2016-01-01

    Ubiquitination is an important cellular mechanism with a pivotal role in the degradation of abnormal or short-lived proteins and the regulation of cell cycle and cell growth. The ubiquitin-proteasome pathway is altered in multiple types of human malignancies, including colorectal cancer (CRC). The alteration in the expression of the novel human gene ubiquitin-conjugating enzyme E2 Q1 (UBE2Q1), as a putative member of the E2 ubiquitin-conjugating enzyme family, has been reported in several malignancies, including carcinoma of the breast, hepatocellular and colorectal cancer, and pediatric acute lymphoblastic leukemia. In the present study, the effect of UBE2Q1 overexpression on cell growth, clonogenicity, motility and cell cycle was investigated in a CRC cell line. The UBE2Q1 gene was cloned in the pCMV6-AN-GFP expression vector. A series of stable transfectants of SW1116 cells overexpressing UBE2Q1 protein were established and confirmed by fluorescence microscopy and western blotting. Using these cells, MTT assay was performed to evaluate cell growth and proliferation, while crystal violet staining was used for clonogenicity assay. Cell cycle analysis was also performed to survey the ratio of cells accumulated in different phases of the cell cycle upon transfection. The motility of these cells was also studied using wound healing assay. UBE2Q1 transfectants exhibited a faster growth in cell culture, increased colony formation capacity and enhanced motility compared with control non-transfected cells and cells transfected with empty vector (mock-transfected cells). UBE2Q1 overexpression also resulted in a significant decrease in the number of cells accumulated in the G0/G1 phase of the cell cycle. The present findings suggest that UBE2Q1 may function as an oncogene that induces proliferation of cancer cells, and could be a novel diagnostic tool and a potential therapeutic target for CRC. PMID:27602158

  6. Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY, del(2)(q37)

    SciTech Connect

    Wang, T.H.; Johnston, K.; Hsieh, C.L.; Dennery, P.A.

    1994-02-15

    The authors present a premature newborn boy with multiple congenital anomalies, including craniofacial anomalies, syndactyly, cardiac defects, and a horseshoe kidney associated with terminal deletion of 2q. The infant`s karyotype was 46,XY,del(2)(q37). Clinical, cytogenetic, and autopsy findings are presented in this report. Clinical manifestations in this infant are compared with those four other known patients with terminal deletion of chromosome 2. 5 refs., 1 fig., 1 tab.

  7. A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

    PubMed Central

    Di Gregorio, Eleonora; Calcia, Alessandro; Savin, Elisa

    2014-01-01

    A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22). Array-CGH identified a de novo microdeletion at 13q12.2q13.1 spanning 3–3.4 Mb and overlapping 13q12.3 critical region. Clinical features resembling those reported in the literature confirm the existence of a distinct 13q12.3 microdeletion syndrome and provide further evidence that is useful to characterize its phenotypic expression during the 5 years of development. PMID:25506442

  8. Human tissue factor pathway inhibitor (TFPI) gene: Complete genomic structure and localization on the genetic map of chromosome 2q

    SciTech Connect

    Enjyoji, Kei-ichi; Emi, Mitsuru; Mukai, Tsunehiro; Imada, Motohiro; Kato, Hisao ); Leppert, M.L.; Lalouel, J.M. Univ. of Utah Medical School, Salt Lake City, UT )

    1993-08-01

    Tissue factor pathway inhibitor (TFPI), a protease inhibitor that circulates in association with plasma lipoproteins (VLDL, LDL and HDL), helps to regulate the extrinsic blood coagulation cascade. The authors have cloned a 125-kb genomic region containing the entire human TFPI gene on six overlapping cosmids and prepared a restriction map of this contig to clarify gene structure. More than half (45 kb) of the 85-kb gene is occupied with 5[prime] noncoding elements: coding begins at exon 3. A HindIII RFLP identified with one cosmid was genotyped in the CEPH panel of 559 reference families. Linkage analysis using markers on human chromosome 2 located the TFPI gene on 2q, 36 cM proximal to D2S43(pYNZ15) and 13 cM distal to the crystalline [gamma]-polypeptide locus CRYGP1(p5G1). 31 refs., 3 figs., 3 tabs.

  9. Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3)

    SciTech Connect

    Clarke, R.A.; Kearsley, J.H.; Singh, S.

    1995-12-01

    Klippel-Feil syndrome (KFS) is characterized by congenital vertebral fusion believed to result from faulty segmentation along the embryo`s developing axis. KFS appears to be a heterogeneous disease often associated with craniofacial malformation. Here we provide the first evidence of a familial KFS gene locus on 8q, where an inv(8)(q22.2q23.3) has been found segregating with congenital vertebral fusion. The four-generation KF2-01 family present with a dominant form of the KFS where the sequence of vertebral fusion was confined to the cervical spine (always including the C2-3 fusion and reduced expression of the C4-5 and C6-7 fusions) in association with malformation of laryngeal cartilages and mild-to-severe vocal impairment. 32 refs., 4 figs., 1 tab.

  10. Localization of the Gene for Distal Hereditary Motor Neuronopathy VII (dHMN-VII) to Chromosome 2q14

    PubMed Central

    McEntagart, Meriel; Norton, Nadine; Williams, Hywel; Teare, M. Dawn; Dunstan, Melanie; Baker, Philip; Houlden, Henry; Reilly, Mary; Wood, Nick; Harper, Peter S.; Futreal, P. Andrew; Williams, Nigel; Rahman, Nazneen

    2001-01-01

    Distal hereditary motor neuronopathy type VII (dHMN-VII) is an autosomal dominant disorder characterized by distal muscular atrophy and vocal cord paralysis. We performed a genomewide linkage search in a large Welsh pedigree with dHMN-VII and established linkage to chromosome 2q14. Analyses of a second family with dHMN-VII confirmed the location of the gene and provided evidence for a founder mutation segregating in both pedigrees. The maximum three-point LOD score in the combined pedigree was 7.49 at D2S274. Expansion of a polyalanine tract in Engrailed-1, a transcription factor strongly expressed in the spinal cord, was excluded as the cause of dHMN-VII. PMID:11294660

  11. Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

    SciTech Connect

    Bernasconi, F.; Dutly, F.; Schinzel, A.A.

    1996-11-01

    A 36-year-old normal healthy female was karyotyped because all of her five pregnancies had terminated in spontaneous abortions during the first 3 mo. Cytogenetic investigation disclosed a female karyotype with isochromosomes of 2p and 2q replacing the two normal chromosomes 2. Her husband and both of her parents had normal karyotypes. Molecular studies revealed maternal only inheritance for chromosome 2 markers. Reduction to homozygosity of all informative markers indicated that the isochromosomes derived from a single maternal chromosome 2. Except for the possibility of homozygosity for recessive mutations, maternal uniparental disomy 2 appears to have no adverse impact on the phenotype. Our data indicate that no maternally imprinted genes with major effect map to chromosome 2. 17 refs., 2 figs., 1 tab.

  12. Dicentric (17;20)(p11.2;q11.2): an uncommon cytogenetic abnormality in myeloid malignancies.

    PubMed

    Tirado, Carlos A; Meloni-Ehrig, Aurelia M; Wallenhorst, Eian; Burks, Kristine; Scheerle, Jay; Morillon, Maurice; Kelly, Joann C; Heritage, Deborah; Spira, Alexander; Croft, Calvin D; Glasser, Lewis; Butera, James N; Mowrey, Philip

    2006-10-01

    We report on two patients with myeloid disorders and complex karyotypes including a dicentric chromosome, dic(17;20)(p11.2;q11.2), resulting in the loss of most of 17p and 20q. The presence of the centromeres of chromosomes 17 and 20 in the dic(17;20), as well as the loss of TP53, were confirmed by fluorescence in situ hybridization. Deletions of 17p and 20q are recurrent abnormalities in hematologic disorders, particularly myelodysplastic syndrome and acute myeloid leukemia). However, a dic(17;20) is an uncommon finding. According to the few reports in the literature, dic(17;20) is associated with an unfavorable prognosis. The key mechanism might be the loss of TP53 as well as other tumor suppressor genes in 20q that may have a critical role in tumor genesis. PMID:16965957

  13. The Cannabinoid Receptor 2 Q63R Variant Modulates the Relationship between Childhood Obesity and Age at Menarche

    PubMed Central

    Torella, Marco; Miraglia del Giudice, Emanuele; Nobili, Bruno; Perrone, Laura; Maione, Sabatino; Rossi, Francesca

    2015-01-01

    Background The ovary is an important site where gene variants modulate pubertal timing. The cannabinoid receptor 2 (CB2) is expressed in the ovary, plays a role in folliculogenesis and ovulation, and can be modulated by estrogens. Obesity is strictly associated with early menarche and is characterized by sex hormone and endocannabinoid derangement. Aim In this study, we investigated the role of the CB2 receptor in determining the age at menarche in obese girls. Methods We studied a cohort of 240 obese girls (age 11.9±3 years; BMI z-score 2.8±0.8). The age at menarche (if it had already occurred) was recorded at the time of the visit or via phonecall. The CNR2 rs35761398 polymorphism, which leads to the CB2 Q63R variant, was detected by the TaqMan assay. Results In total, 105 patients were homozygous for the R63-coding allele (RR), 113 were QR and 22 were QQ. Variance analysis revealed a significantly earlier age of menarche in subjects carrying the Q63 allele, which was also found after adjusting for BMI z-score (11±1.2 vs. 11.6±1.2 years, p = 0.0003). Logistic regression analysis demonstrated that patients homozygous for the Q allele had a 2.2-fold higher risk (odds ratio = 2.2; CI1.1–3.4; p = 0.02) of presenting with an early menarche (age at menarche <12 years). Conclusion We demonstrated for the first time the association between the CB2 Q63R functional variant and the age at menarche in a cohort of Italian obese girls. PMID:26447698

  14. Fifth finger camptodactyly maps to chromosome 3q11.2-q13.12 in a large German kindred.

    PubMed

    Malik, Sajid; Schott, Jörg; Schiller, Julia; Junge, Anna; Baum, Erika; Koch, Manuela C

    2008-02-01

    Camptodactyly (MIM 114200) is a digit deformity characterised by permanent flexion contracture of fifth fingers at the proximal interphalangeal (PIP) joints. The sporadic cases are common but a familial occurrence is not much appreciated. In an attempt to identify the genetic basis of camptodactyly, we have analysed a large German family with camptodactyly segregating in an autosomal dominant fashion. The affected family members exhibited clinical features of fifth finger camptodactyly and knuckle pads on the crooked fifth finger and on fingers 2-3. Typically, women were more severely affected than men. Microsatellite analyses of five candidate loci known to be associated with camptodactyly-like phenotypes did not show co-segregation with the phenotype in our family. A genome-wide linkage scan using a total of 414 microsatellite markers gave significant evidence of linkage between the familial phenotype and chromosomal locus 3q11.2-q13.12 (maximum two-point LOD score 3.04). The key recombination events showed that the phenotype localises between markers D3S2465 and D3S3044, spanning an interval of approximately 15 cM. This study reports the first genetic locus linked to isolated autosomal dominant fifth finger camptodactyly with knuckle pads and proves the hypothesis that camptodactyly is distinct from camptodactyly-associated phenotypes including Dupuytren contracture. Additional studies of other families will be necessary to determine the existence of genetic homogeneity or heterogeneity of the anomaly and to narrow down the genetic interval to identify the responsible gene. Since genetic heterogeneity for isolated camptodactyly is likely, we propose to designate the 3q11.2-q13.12 locus as CAMPD1 (ie, camptodactyly 1). PMID:18000522

  15. Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson’s Disease Locus

    PubMed Central

    Labbé, Catherine; Ogaki, Kotaro; Lorenzo-Betancor, Oswaldo; Carrasquillo, Minerva M.; Heckman, Michael G.; McCarthy, Allan; Soto-Ortolaza, Alexandra I.; Walton, Ronald L.; Lynch, Timothy; Siuda, Joanna; Opala, Grzegorz; Krygowska-Wajs, Anna; Barcikowska, Maria; Czyzewski, Krzysztof; Dickson, Dennis W.; Uitti, Ryan J.; Wszolek, Zbigniew K.; Ross, Owen A.

    2015-01-01

    Genome-wide association studies (GWAS) in Parkinson’s disease (PD) have identified over 20 genomic regions associated with disease risk. Many of these loci include several candidate genes making it difficult to pinpoint the causal gene. The locus on chromosome 2q24.3 encompasses three genes: B3GALT1, STK39, and CERS6. In order to identify if the causal variants are simple missense changes, we sequenced all 31 exons of these three genes in 187 patients with PD. We identified 13 exonic variants including four non-synonymous and three insertion/deletion variants (indels). These non-synonymous variants and rs2102808, the GWAS tag SNP, were genotyped in three independent series consisting of a total of 1976 patients and 1596 controls. Our results show that the seven identified 2q24.3 coding variants are not independently responsible for the GWAS association signal at the locus; however, there is a haplotype, which contains both rs2102808 and a STK39 exon 1 6bp indel variant, that is significantly associated with PD risk (Odds Ratio [OR] = 1.35, 95% CI: 1.11–1.64, P = 0.003). This haplotype is more associated than each of the two variants independently (OR = 1.23, P = 0.005 and 1.10, P = 0.10, respectively). Our findings suggest that the risk variant is likely located in a non-coding region. Additional sequencing of the locus including promoter and regulatory regions will be needed to pinpoint the association at this locus that leads to an increased risk to PD. PMID:26090850

  16. Synthesis and characterization of a new photoluminescent material (8-hydroxy quinoline) bis (2-2'bipyridine) lanthanum La(Bpy)2q

    NASA Astrophysics Data System (ADS)

    Kumar, Rahul; Bhargava, Parag

    2016-05-01

    A new photoluminescence material, (8-hydroxy quinoline) bis (2-2'bipyridine) lanthanum has been synthesized and characterized by different techniques. The prepared material La(Bpy)2q was characterized for structural, thermal and photoluminescence analysis. Structural analysis of this material was done by Fourier transformed infrared spectroscopy (FTIR) and mass spectroscopy. Thermal analysis of this material was done by thermal gravimetric analysis (TGA) shows the thermal stability up to 190°C.Absorption and emission spectra of the material was measured by UV-visible spectroscopy and photoluminescence spectroscopy. Solution of this material La(Bpy)2q in ethanol showed absorption peak at 385nm, which may be attributed due to (π - π*) transitions. The photoluminescence spectra of La(Bpy)2q in ethanol solution showed intense peak at 490 nm

  17. Recognition of the Major Histocompatibility Complex (MHC) Class Ib Molecule H2-Q10 by the Natural Killer Cell Receptor Ly49C.

    PubMed

    Sullivan, Lucy C; Berry, Richard; Sosnin, Natasha; Widjaja, Jacqueline M L; Deuss, Felix A; Balaji, Gautham R; LaGruta, Nicole L; Mirams, Michiko; Trapani, Joseph A; Rossjohn, Jamie; Brooks, Andrew G; Andrews, Daniel M

    2016-09-01

    Murine natural killer (NK) cells are regulated by the interaction of Ly49 receptors with major histocompatibility complex class I molecules (MHC-I). Although the ligands for inhibitory Ly49 were considered to be restricted to classical MHC (MHC-Ia), we have shown that the non-classical MHC molecule (MHC-Ib) H2-M3 was a ligand for the inhibitory Ly49A. Here we establish that another MHC-Ib, H2-Q10, is a bona fide ligand for the inhibitory Ly49C receptor. H2-Q10 bound to Ly49C with a marginally lower affinity (∼5 μm) than that observed between Ly49C and MHC-Ia (H-2K(b)/H-2D(d), both ∼1 μm), and this recognition could be prevented by cis interactions with H-2K in situ To understand the molecular details underpinning Ly49·MHC-Ib recognition, we determined the crystal structures of H2-Q10 and Ly49C bound H2-Q10. Unliganded H2-Q10 adopted a classical MHC-I fold and possessed a peptide-binding groove that exhibited features similar to those found in MHC-Ia, explaining the diverse peptide binding repertoire of H2-Q10. Ly49C bound to H2-Q10 underneath the peptide binding platform to a region that encompassed residues from the α1, α2, and α3 domains, as well as the associated β2-microglobulin subunit. This docking mode was conserved with that previously observed for Ly49C·H-2K(b) Indeed, structure-guided mutation of Ly49C indicated that Ly49C·H2-Q10 and Ly49C·H-2K(b) possess similar energetic footprints focused around residues located within the Ly49C β4-stand and L5 loop, which contact the underside of the peptide-binding platform floor. Our data provide a structural basis for Ly49·MHC-Ib recognition and demonstrate that MHC-Ib represent an extended family of ligands for Ly49 molecules. PMID:27385590

  18. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

    PubMed

    Ghoussaini, Maya; Edwards, Stacey L; Michailidou, Kyriaki; Nord, Silje; Cowper-Sal Lari, Richard; Desai, Kinjal; Kar, Siddhartha; Hillman, Kristine M; Kaufmann, Susanne; Glubb, Dylan M; Beesley, Jonathan; Dennis, Joe; Bolla, Manjeet K; Wang, Qin; Dicks, Ed; Guo, Qi; Schmidt, Marjanka K; Shah, Mitul; Luben, Robert; Brown, Judith; Czene, Kamila; Darabi, Hatef; Eriksson, Mikael; Klevebring, Daniel; Bojesen, Stig E; Nordestgaard, Børge G; Nielsen, Sune F; Flyger, Henrik; Lambrechts, Diether; Thienpont, Bernard; Neven, Patrick; Wildiers, Hans; Broeks, Annegien; Van't Veer, Laura J; Th Rutgers, Emiel J; Couch, Fergus J; Olson, Janet E; Hallberg, Emily; Vachon, Celine; Chang-Claude, Jenny; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Peto, Julian; Dos-Santos-Silva, Isabel; Gibson, Lorna; Nevanlinna, Heli; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Hall, Per; Li, Jingmei; Liu, Jianjun; Humphreys, Keith; Kang, Daehee; Choi, Ji-Yeob; Park, Sue K; Noh, Dong-Young; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Yatabe, Yasushi; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Sanchez, Marie; Burwinkel, Barbara; Marme, Frederik; Schneeweiss, Andreas; Sohn, Christof; Wu, Anna H; Tseng, Chiu-Chen; Van Den Berg, David; Stram, Daniel O; Benitez, Javier; Zamora, M Pilar; Perez, Jose Ignacio Arias; Menéndez, Primitiva; Shu, Xiao-Ou; Lu, Wei; Gao, Yu-Tang; Cai, Qiuyin; Cox, Angela; Cross, Simon S; Reed, Malcolm W R; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Tchatchou, Sandrine; Sawyer, Elinor J; Tomlinson, Ian; Kerin, Michael J; Miller, Nicola; Haiman, Christopher A; Henderson, Brian E; Schumacher, Fredrick; Le Marchand, Loic; Lindblom, Annika; Margolin, Sara; Teo, Soo Hwang; Yip, Cheng Har; Lee, Daphne S C; Wong, Tien Y; Hooning, Maartje J; Martens, John W M; Collée, J Margriet; van Deurzen, Carolien H M; Hopper, John L; Southey, Melissa C; Tsimiklis, Helen; Kapuscinski, Miroslav K; Shen, Chen-Yang; Wu, Pei-Ei; Yu, Jyh-Cherng; Chen, Shou-Tung; Alnæs, Grethe Grenaker; Borresen-Dale, Anne-Lise; Giles, Graham G; Milne, Roger L; McLean, Catriona; Muir, Kenneth; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Hartman, Mikael; Miao, Hui; Buhari, Shaik Ahmad Bin Syed; Teo, Yik Ying; Fasching, Peter A; Haeberle, Lothar; Ekici, Arif B; Beckmann, Matthias W; Brenner, Hermann; Dieffenbach, Aida Karina; Arndt, Volker; Stegmaier, Christa; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Schoemaker, Minouk J; García-Closas, Montserrat; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Simard, Jacques; Goldberg, Mark S; Labrèche, France; Dumont, Martine; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Brauch, Hiltrud; Brüning, Thomas; Koto, Yon-Dschun; Radice, Paolo; Peterlongo, Paolo; Bonanni, Bernardo; Volorio, Sara; Dörk, Thilo; Bogdanova, Natalia V; Helbig, Sonja; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Devilee, Peter; Tollenaar, Robert A E M; Seynaeve, Caroline; Van Asperen, Christi J; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Slager, Susan; Toland, Amanda E; Ambrosone, Christine B; Yannoukakos, Drakoulis; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Hamann, Ute; Torres, Diana; Zheng, Wei; Long, Jirong; Anton-Culver, Hoda; Neuhausen, Susan L; Luccarini, Craig; Baynes, Caroline; Ahmed, Shahana; Maranian, Mel; Healey, Catherine S; González-Neira, Anna; Pita, Guillermo; Alonso, M Rosario; Alvarez, Nuria; Herrero, Daniel; Tessier, Daniel C; Vincent, Daniel; Bacot, Francois; de Santiago, Ines; Carroll, Jason; Caldas, Carlos; Brown, Melissa A; Lupien, Mathieu; Kristensen, Vessela N; Pharoah, Paul D P; Chenevix-Trench, Georgia; French, Juliet D; Easton, Douglas F; Dunning, Alison M

    2014-01-01

    GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the 'iCOGS' genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project data. All but two, strongly correlated SNPs (rs4442975 G/T and rs6721996 G/A) are excluded as candidate causal variants at odds against >100:1. The best functional candidate, rs4442975, is associated with oestrogen receptor positive (ER+) disease with an odds ratio (OR) in Europeans of 0.85 (95% confidence interval=0.84-0.87; P=1.7 × 10(-43)) per t-allele. This SNP flanks a transcriptional enhancer that physically interacts with the promoter of IGFBP5 (encoding insulin-like growth factor-binding protein 5) and displays allele-specific gene expression, FOXA1 binding and chromatin looping. Evidence suggests that the g-allele confers increased breast cancer susceptibility through relative downregulation of IGFBP5, a gene with known roles in breast cell biology. PMID:25248036

  19. Direct Measurements of Line-Mixing Coefficients in the nu1 + nu2 Q Branch of CO2

    PubMed

    Berman; Duggan; Sinclair; May; Drummond

    1997-04-01

    High-resolution measurements of the (nu1 + nu2) Q branch of pure CO2 were made using a difference frequency spectrometer with resolution of 5 x 10(-5) cm-1 and a signal-to-noise ratio of 2000:1. Lines Q(2) through Q(32) were measured with up to 14 lines in a single spectrum. The analysis of the branch has been performed on data taken at 301 K and pressures less than 11 kPa. The spectra were analyzed on a line-by-line basis within the Rosenkranz approximation of weak overlap [P. W. Rosenkranz, IEEE Trans. Antennas Propagation AP-23, 498 (1975)]. The lineshape profile included Doppler broadening and Dicke narrowing [R. H. Dicke, Phys. Rev. 89, 472 (1953)] using a modified hard collision model [S. G. Rautian and I. I. Sobel'man, Sov. Phys. Uspekh. 9, 701 (1967)] with line mixing. For each line the broadening, Dicke narrowing, and line-mixing coefficients were determined. The broadening coefficients are in good agreement with measurements of lines belonging to different CO2 bands. Our measured line-mixing parameters are compared to those predicted by a relaxation matrix which was calculated from an exponential power gap (EPG) law [L. L. Strow, D. C. Tobin, and S. E. Hannon, J. Quant. Spectrosc. Radiat. Transfer 52, 281 (1994)]. The vibrational band intensity and the linear pressure shift of the branch were also measured. Copyright 1997Academic Press PMID:9398549

  20. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

    PubMed Central

    Ghoussaini, Maya; Edwards, Stacey L.

    2015-01-01

    GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the ‘iCOGS’ genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project data. All but two, strongly correlated SNPs (rs4442975 G/T and rs6721996 G/A) are excluded as candidate causal variants at odds against > 100:1. The best functional candidate, rs4442975, is associated with oestrogen receptor positive (ER + ) disease with an odds ratio (OR) in Europeans of 0.85 (95% confidence interval = 0.84 – 0.87; P = 1.7 × 10 −43) per t-allele. This SNP flanks a transcriptional enhancer that physically interacts with the promoter of IGFBP5 (encoding insulin-like growth factor-binding protein 5) and displays allele-specific gene expression, FOXA1 binding and chromatin looping. Evidence suggests that the g-allele confers increased breast cancer susceptibility through relative downregulation of IGFBP5, a gene with known roles in breast cell biology. PMID:25248036

  1. 2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy.

    PubMed

    Li, Jingmei; Lindström, Linda S; Foo, Jia N; Rafiq, Sajjad; Schmidt, Marjanka K; Pharoah, Paul D P; Michailidou, Kyriaki; Dennis, Joe; Bolla, Manjeet K; Wang, Qin; Van 't Veer, Laura J; Cornelissen, Sten; Rutgers, Emiel; Southey, Melissa C; Apicella, Carmel; Dite, Gillian S; Hopper, John L; Fasching, Peter A; Haeberle, Lothar; Ekici, Arif B; Beckmann, Matthias W; Blomqvist, Carl; Muranen, Taru A; Aittomäki, Kristiina; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kosma, Veli-Matti; Hartikainen, Jaana M; Kataja, Vesa; Chenevix-Trench, Georgia; Phillips, Kelly-Anne; McLachlan, Sue-Anne; Lambrechts, Diether; Thienpont, Bernard; Smeets, Ann; Wildiers, Hans; Chang-Claude, Jenny; Flesch-Janys, Dieter; Seibold, Petra; Rudolph, Anja; Giles, Graham G; Baglietto, Laura; Severi, Gianluca; Haiman, Christopher A; Henderson, Brian E; Schumacher, Fredrick; Le Marchand, Loic; Kristensen, Vessela; Alnæs, Grethe I Grenaker; Borresen-Dale, Anne-Lise; Nord, Silje; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Tchatchou, Sandrine; Devilee, Peter; Tollenaar, Robert; Seynaeve, Caroline; Hooning, Maartje; Kriege, Mieke; Hollestelle, Antoinette; van den Ouweland, Ans; Li, Yi; Hamann, Ute; Torres, Diana; Ulmer, Hans U; Rüdiger, Thomas; Shen, Chen-Yang; Hsiung, Chia-Ni; Wu, Pei-Ei; Chen, Shou-Tung; Teo, Soo Hwang; Taib, Nur Aishah Mohd; Har Yip, Cheng; Fuang Ho, Gwo; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Tajima, Kazuo; Kang, Daehee; Choi, Ji-Yeob; Park, Sue K; Yoo, Keun-Young; Maishman, Tom; Tapper, William J; Dunning, Alison; Shah, Mitul; Luben, Robert; Brown, Judith; Khor, Chiea Chuen; Eccles, Diana M; Nevanlinna, Heli; Easton, Douglas; Humphreys, Keith; Liu, Jianjun; Hall, Per; Czene, Kamila

    2014-01-01

    Large population-based registry studies have shown that breast cancer prognosis is inherited. Here we analyse single-nucleotide polymorphisms (SNPs) of genes implicated in human immunology and inflammation as candidates for prognostic markers of breast cancer survival involving 1,804 oestrogen receptor (ER)-negative patients treated with chemotherapy (279 events) from 14 European studies in a prior large-scale genotyping experiment, which is part of the Collaborative Oncological Gene-environment Study (COGS) initiative. We carry out replication using Asian COGS samples (n=522, 53 events) and the Prospective Study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) study (n=315, 108 events). Rs4458204_A near CCL20 (2q36.3) is found to be associated with breast cancer-specific death at a genome-wide significant level (n=2,641, 440 events, combined allelic hazard ratio (HR)=1.81 (1.49-2.19); P for trend=1.90 × 10(-9)). Such survival-associated variants can represent ideal targets for tailored therapeutics, and may also enhance our current prognostic prediction capabilities. PMID:24937182

  2. A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p

    PubMed Central

    2001-01-01

    Autism is characterized by impairments in reciprocal communication and social interaction and by repetitive and stereotyped patterns of activities and interests. Evidence for a strong underlying genetic predisposition comes from twin and family studies, although susceptibility genes have not yet been identified. A whole-genome screen for linkage, using 83 sib pairs with autism, has been completed, and 119 markers have been genotyped in 13 candidate regions in a further 69 sib pairs. The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p. Two new regions of linkage have also been identified on chromosomes 2q and 17q. The most significant finding was a multipoint maximum LOD score (MLS) of 3.74 at marker D2S2188 on chromosome 2; this MLS increased to 4.80 when only sib pairs fulfilling strict diagnostic criteria were included. The susceptibility region on chromosome 7 was the next most significant, generating a multipoint MLS of 3.20 at marker D7S477. Chromosome 16 generated a multipoint MLS of 2.93 at D16S3102, whereas chromosome 17 generated a multipoint MLS of 2.34 at HTTINT2. With the addition of new families, there was no increased allele sharing at a number of other loci originally showing some evidence of linkage. These results support the continuing collection of multiplex sib-pair families to identify autism-susceptibility genes. PMID:11481586

  3. A Genome-Wide Association Study Identifies Susceptibility Loci for Ovarian Cancer at 2q31 and 8q24

    PubMed Central

    Goode, Ellen L.; Chenevix-Trench, Georgia; Song, Honglin; Ramus, Susan J.; Notaridou, Maria; Lawrenson, Kate; Widschwendter, Martin; Vierkant, Robert A.; Larson, Melissa C.; Kjaer, Susanne K.; Birrer, Michael J.; Berchuck, Andrew; Schildkraut, Joellen; Tomlinson, Ian; Kiemeney, Lambertus A.; Cook, Linda S.; Gronwald, Jacek; Garcia-Closas, Montserrat; Gore, Martin E.; Campbell, Ian; Whittemore, Alice S.; Sutphen, Rebecca; Phelan, Catherine; Anton-Culver, Hoda; Pearce, Celeste Leigh; Lambrechts, Diether; Rossing, Mary Anne; Chang-Claude, Jenny; Moysich, Kirsten B.; Goodman, Marc T.; Dörk, Thilo; Nevanlinna, Heli; Ness, Roberta B.; Rafnar, Thorunn; Hogdall, Claus; Hogdall, Estrid; Fridley, Brooke L.; Cunningham, Julie M.; Sieh, Weiva; McGuire, Valerie; Godwin, Andrew K.; Cramer, Daniel W.; Hernandez, Dena; Levine, Douglas; Lu, Karen; Iversen, Edwin S.; Palmieri, Rachel T.; Houlston, Richard; van Altena, Anne M.; Aben, Katja K.H.; Massuger, Leon F.A.G.; Brooks-Wilson, Angela; Kelemen, Linda E.; Le, Nhu D.; Jakubowska, Anna; Lubinski, Jan; Medrek, Krzysztof; Stafford, Anne; Easton, Douglas F.; Tyrer, Jonathan; Bolton, Kelly L.; Harrington, Patricia; Eccles, Diana; Chen, Ann; Molina, Ashley N.; Davila, Barbara N.; Arango, Hector; Tsai, Ya-Yu; Chen, Zhihua; Risch, Harvey A.; McLaughlin, John; Narod, Steven A.; Ziogas, Argyrios; Brewster, Wendy; Gentry-Maharaj, Aleksandra; Menon, Usha; Wu, Anna H.; Stram, Daniel O.; Pike, Malcolm C.; Beesley, Jonathan; Webb, Penelope M.; Chen, Xiaoqing; Ekici, Arif B.; Thiel, Falk C.; Beckmann, Matthias W.; Yang, Hannah; Wentzensen, Nicolas; Lissowska, Jolanta; Fasching, Peter A.; Despierre, Evelyn; Amant, Frederic; Vergote, Ignace; Doherty, Jennifer; Hein, Rebecca; Wang-Gohrke, Shan; Lurie, Galina; Carney, Michael E.; Thompson, Pamela J.; Runnebaum, Ingo; Hillemanns, Peter; Dürst, Matthias; Antonenkova, Natalia; Bogdanova, Natalia; Leminen, Arto; Butzow, Ralf; Heikkinen, Tuomas; Stefansson, Kari; Sulem, Patrick; Besenbacher, Sören; Sellers, Thomas A.; Gayther, Simon A.; Pharoah, Paul D.P.

    2011-01-01

    Ovarian cancer (OC) accounts for more deaths than all other gynecological cancers combined. To identify common low-penetrance OC susceptibility genes, we conducted a genome-wide association study (GWAS) of 507,094 SNPs in 1,768 cases and 2,354 controls, with follow-up of 21,955 SNPs in 4,162 cases and 4,810 controls, leading to the identification of a confirmed susceptibility locus at 9p22 (BNC2)1. Here, we report on nine additional candidate loci (p≤10-4), identified after stratifying cases by histology, genotyped in an additional 4,353 cases and 6,021 controls. Two novel susceptibility loci with p≤5×10-8 were confirmed (8q24, p=8.0×10-15 and 2q31, p=3.8×10-14); two additional loci were also identified that approached genome-wide significance (3q25, p=7.1×10-8 and 17q21, p=1.4×10-7). The associations with serous OC were generally stronger than other subtypes. Analysis of HOXD1, MYC, TiPARP, and SKAP1 at these loci, and BNC2 at 9p22, supports a functional role for these genes in OC development. PMID:20852632

  4. 2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

    PubMed Central

    Li, Jingmei; Lindström, Linda S.; Foo, Jia N.; Rafiq, Sajjad; Schmidt, Marjanka K.; Pharoah, Paul D. P.; Michailidou, Kyriaki; Dennis, Joe; Bolla, Manjeet K.; Wang, Qin; Van ‘t Veer, Laura J.; Cornelissen, Sten; Rutgers, Emiel; Southey, Melissa C.; Apicella, Carmel; Dite, Gillian S.; Hopper, John L.; Fasching, Peter A.; Haeberle, Lothar; Ekici, Arif B.; Beckmann, Matthias W.; Blomqvist, Carl; Muranen, Taru A.; Aittomäki, Kristiina; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kosma, Veli-Matti; Hartikainen, Jaana M.; Kataja, Vesa; Chenevix-Trench, Georgia; Investigators, kConFab; Phillips, Kelly-Anne; McLachlan, Sue-Anne; Lambrechts, Diether; Thienpont, Bernard; Smeets, Ann; Wildiers, Hans; Chang-Claude, Jenny; Flesch-Janys, Dieter; Seibold, Petra; Rudolph, Anja; Giles, Graham G.; Baglietto, Laura; Severi, Gianluca; Haiman, Christopher A.; Henderson, Brian E.; Schumacher, Fredrick; Le Marchand, Loic; Kristensen, Vessela; Alnæs, Grethe I. Grenaker; Borresen-Dale, Anne-Lise; Nord, Silje; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Andrulis, Irene L.; Knight, Julia A.; Glendon, Gord; Tchatchou, Sandrine; Devilee, Peter; Tollenaar, Robert; Seynaeve, Caroline; Hooning, Maartje; Kriege, Mieke; Hollestelle, Antoinette; van den Ouweland, Ans; Li, Yi; Hamann, Ute; Torres, Diana; Ulmer, Hans U.; Rüdiger, Thomas; Shen, Chen-Yang; Hsiung, Chia-Ni; Wu, Pei-Ei; Chen, Shou-Tung; Teo, Soo Hwang; Taib, Nur Aishah Mohd; Har Yip, Cheng; Fuang Ho, Gwo; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Tajima, Kazuo; Kang, Daehee; Choi, Ji-Yeob; Park, Sue K.; Yoo, Keun-Young; Maishman, Tom; Tapper, William J.; Dunning, Alison; Shah, Mitul; Luben, Robert; Brown, Judith; Chuen Khor, Chiea; Eccles, Diana M.; Nevanlinna, Heli; Easton, Douglas; Humphreys, Keith; Liu, Jianjun; Hall, Per; Czene, Kamila

    2014-01-01

    Large population-based registry studies have shown that breast cancer prognosis is inherited. Here we analyse single-nucleotide polymorphisms (SNPs) of genes implicated in human immunology and inflammation as candidates for prognostic markers of breast cancer survival involving 1,804 oestrogen receptor (ER)-negative patients treated with chemotherapy (279 events) from 14 European studies in a prior large-scale genotyping experiment, which is part of the Collaborative Oncological Gene-environment Study (COGS) initiative. We carry out replication using Asian COGS samples (n=522, 53 events) and the Prospective Study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) study (n=315, 108 events). Rs4458204_A near CCL20 (2q36.3) is found to be associated with breast cancer-specific death at a genome-wide significant level (n=2,641, 440 events, combined allelic hazard ratio (HR)=1.81 (1.49–2.19); P for trend=1.90 × 10−9). Such survival-associated variants can represent ideal targets for tailored therapeutics, and may also enhance our current prognostic prediction capabilities. PMID:24937182

  5. Assignment of the gastric inhibitory polypeptide receptor gene (GIPR) to chromosome bands 19q13.2-q13.3 by fluorescence in situ hybridization

    SciTech Connect

    Stoffel, M.; Fernald, A.A.; Bell, G.I.; Le Beau, M.M.

    1995-08-10

    The gastric inhibitory polypeptide receptor gene (GIPR) was localized, using fluorescence in situ hybridization (FISH), to human chromosome bands 19q13.2-q13.3. Gastric inhibitory polypeptide (GIP) is a potent stimulator of insulin secretion and mutations in the GIPR gene may be related to non-insulin-dependent diabetes mellitus (NIDDM). 13 refs., 1 fig.

  6. The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.

    PubMed

    Jean-Marçais, Nolwenn; Decamp, Matthieu; Gérard, Marion; Ribault, Virginie; Andrieux, Joris; Kottler, Marie-Laure; Plessis, Ghislaine

    2015-01-01

    Albright hereditary osteodystrophy (AHO)-like syndrome is also known as brachydactyly-mental retardation syndrome (BDMR; OMIM 60040). This disorder includes intellectual disability in all patients, skeletal abnormalities, including brachydactyly E (BDE) in approximately half, obesity, and facial dysmorphism. Patients with 2q37 microdeletion or HDAC4 mutation are defined as having an AHO-like phenotype with normal stimulatory G (Gs) function. HDAC4 is involved in neurological, cardiac, and skeletal function. This paper reports the first familial case of 2q37.3 interstitial deletion affecting two genes, HDAC4 and TWIST2. Patients presented with BDE and short stature without intellectual disability, showing that haploinsufficiency of the HDAC4 critical region may lead to a spectrum of phenotypes, ranging from isolated brachydactyly type E to BDMR. PMID:25402011

  7. A rare balanced nonrobertsonian translocation involving acrocentric chromosomes: Chromosome abnormality of t(13;15)(p11.2;q22.1)

    PubMed Central

    Rupa, Dalvi; Neeraja, Koppaka; Deepak, Chavan; Swarna, Mandava

    2016-01-01

    BACKGROUND: Balanced non-robertsonian translocation (RT), involving acrocentric chromosomes, is a rare event and only a few cases are reported. Most of the RTs are balanced involving acrocentric chromosomes with the breakpoints (q10;q10). MATERIALS AND METHODS: Chromosome analysis was performed as per standard procedure – Giemsa-trypsin banding with 500 band resolution was analyzed for chromosome identification. RESULTS: In the present study, we report a rare balanced non-RTs involving chromosomes 13 and 15 with cytogenetic finding of 46, XX, t(13;15) (p11.2;q22.1). CONCLUSION: To the best of our knowledge, this is the first such report of an unusual non-RT of t(13:15) with (p11.2;q22.1) break points. PMID:27382241

  8. Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.

    PubMed

    Mullegama, Sureni V; Alaimo, Joseph T; Chen, Li; Elsea, Sarah H

    2015-01-01

    Roughly 20% of autism spectrum disorders (ASD) are syndromic with a well-established genetic cause. Studying the genes involved can provide insight into the molecular and cellular mechanisms of ASD. 2q23.1 deletion syndrome (causative gene, MBD5) is a recently identified genetic neurodevelopmental disorder associated with ASD. Mutations in MBD5 have been found in ASD cohorts. In this study, we provide a phenotypic update on the prevalent features of 2q23.1 deletion syndrome, which include severe intellectual disability, seizures, significant speech impairment, sleep disturbance, and autistic-like behavioral problems. Next, we examined the phenotypic, molecular, and network/pathway relationships between nine neurodevelopmental disorders associated with ASD: 2q23.1 deletion Rett, Angelman, Pitt-Hopkins, 2q23.1 duplication, 5q14.3 deletion, Kleefstra, Kabuki make-up, and Smith-Magenis syndromes. We show phenotypic overlaps consisting of intellectual disability, speech delay, seizures, sleep disturbance, hypotonia, and autistic-like behaviors. Molecularly, MBD5 possibly regulates the expression of UBE3A, TCF4, MEF2C, EHMT1 and RAI1. Network analysis reveals that there could be indirect protein interactions, further implicating function for these genes in common pathways. Further, we show that when MBD5 and RAI1 are haploinsufficient, they perturb several common pathways that are linked to neuronal and behavioral development. These findings support further investigations into the molecular and pathway relationships among genes linked to neurodevelopmental disorders and ASD, which will hopefully lead to common points of regulation that may be targeted toward therapeutic intervention. PMID:25853262

  9. Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.

    PubMed Central

    Foy, C; Newton, V; Wellesley, D; Harris, R; Read, A P

    1990-01-01

    We have demonstrated close linkage between the locus for the autosomal dominant Waardenburg syndrome type I and the placental alkaline phosphatase locus on chromosome 2q37. In five families the peak lod score was 4.76 at a recombination fraction of .023. In the mouse the Splotch locus maps to near the homologous position. Splotch mice have white spotting and hearing defects, suggesting that Splotch may be the murine homologue of Waardenburg syndrome type I. PMID:2339698

  10. Genetic and physical mapping of 2q35 in the region of NRAMP and IL8R genes: Identification of a polymorphic repeat in exon 2 of NRAMP

    SciTech Connect

    White, J.K.; Shaw, M.A.; Barton, C.H.

    1994-11-15

    Recent interest has focused on the region of conserved synteny between mouse chromosome 1 and human 2q33-q37, particularly over the region encoding the murine macrophage resistance gene Ity/Lsh/Bcg (candidate Nramp) and members of the Il8r interleukin-8 (IL8) receptor gene cluster. In this paper, identification of a restriction fragment length polymorphism in the Il8RB gene in 35 pedigrees previously typed for markers in the 2q33-37 interval provided evidence (lod scores > 3) for linkage between Il8RB and the 2q34-135 markers FN1, TNP1, VIL1, and DES. Physical mapping, using yeast artificial chromosomes isolated with VIL1, confirmed that IL8RA, IL8RB and the IL8RB pseudogene map within the NRAMP-VIL1 interval, with the physical distance (155 kb) from 5{prime} LSH to 3{prime} VIL1 representing {approx}3-fold that observed in the mouse. Partial sequencing of NRAMP confirmed the presence of the N-terminal proline/serine-rich putative SH3 binding domain in exon 2 of the human gene. Further analysis of Brazilian leprosy and visceral leishmaniasis pedigrees identified a rare second allele varying in a 9-nucleotide repeat motif of the exon 2 sequence but segregating independently of the disease phenotype. 38 refs., 4 figs., 3 tabs.

  11. Synthesis and electroluminescence characterization of a new aluminum complex, [8-hydroxyquinoline] bis [2, 2'bipyridine] aluminum Al(Bpy)2q

    NASA Astrophysics Data System (ADS)

    Rahul, Kumar; Ritu, Srivastava; Punita, Singh

    2016-01-01

    We have synthesized and characterized a new electroluminescent material, [8-hydroxyquinoline] bis [2,2'bipyridine] aluminum. A solution of this material Al(Bpy)2q in toluene showed absorption maxima at 380 nm, which was attributed to the moderate energy (π-π*) transitions of the aromatic rings. The photoluminescence spectrum of Al(Bpy)2q in the toluene solution showed a peak at 518 nm. This material shows thermal stability up to 300 °C. The structure of the device is ITO/F4-TCNQ (1 nm)/α-NPD (35 nm)/Al(Bpy)2q (35 nm)/ BCP (6 nm)/Alq3 (28 nm)/LiF (1 nm)/Al (150 nm). This device exhibited a luminescence peak at 515 nm (CIE coordinates, x = 0.32, y = 0.49). The maximum luminescence of the device was 214 cd/m2 at 21 V. The maximum current efficiency of OLED was 0.12 cd/A at 13 V and the maximum power efficiency was 0.03 lm/W at 10 V.

  12. Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies

    SciTech Connect

    Levin, M.L.; Shaffer, L.G.; Lewis, R.L.

    1995-01-02

    We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 (del(17) (q23.2q24.3)) who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and digital and widespread skeletal anomalies. This patient`s phenotype was compared to two other reported patients with deletion 17q with minor clinical overlap consistent with a unique deletion. 9 refs., 2 figs.

  13. Ab-initio study of structural and electronic properties of thin film and bulk forms of Bi2Q3 (Q = Se, Te) as topological insulators

    NASA Astrophysics Data System (ADS)

    Ranjbardizaj, Ahmad; Mizuseki, Hiroshi; Kawazoe, Yoshiyuki

    2013-03-01

    Bi2Q3 (Q =Se, Te) are the best-known bulk thermoelectric materials, which have been demonstrated to be topological insulators (TI). TI's are insulators with conductive surface states consisting of a single Dirac cones. These materials have layered structures consisting of stacked quintuple layers (QL), with relatively weak coupling between the QL's. Therefore, it might be easy to prepare the Bi2Q3 in the form of thin films with particular thicknesses using the available experimental techniques. In this study, the electronic and structural properties of bulk Bi2Se3 are investigated using density functional theory. Our results show that the Bi2Se3 is an indirect semiconductor with energy gap of ~ 0.27 eV. Additionally, the electronic structure dependence of Bi2Se3to the thicknesses of thin films (n-QL's with n =1,2...9) is considered. It is observed that the electronic structure of this kind of thin films depends on the number of QL's. For n-QL's with n larger than three, the thin film has a bulk band gap and has protected conducting states on its surface. Moreover, the effect of number of layers (n) on band-gap energy is studied. Similar calculations and discussions are carried out for Bi2Te3 and the results are compared to the Bi2Se3 case and also the available theoretical and experimental results.

  14. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

    PubMed

    Stokman, Marijn F; Oud, Machteld M; van Binsbergen, Ellen; Slaats, Gisela G; Nicolaou, Nayia; Renkema, Kirsten Y; Nijman, Isaac J; Roepman, Ronald; Giles, Rachel H; Arts, Heleen H; Knoers, Nine V A M; van Haelst, Mieke M

    2016-06-01

    We report an 11-year-old girl with mild intellectual disability, skeletal anomalies, congenital heart defect, myopia, and facial dysmorphisms including an extra incisor, cup-shaped ears, and a preauricular skin tag. Array comparative genomic hybridization analysis identified a de novo 4.5-Mb microdeletion on chromosome 14q24.2q24.3. The deleted region and phenotype partially overlap with previously reported patients. Here, we provide an overview of the literature on 14q24 microdeletions and further delineate the associated phenotype. We performed exome sequencing to examine other causes for the phenotype and queried genes present in the 14q24.2q24.3 microdeletion that are associated with recessive disease for variants in the non-deleted allele. The deleted region contains 65 protein-coding genes, including the ciliary gene IFT43. Although Sanger and exome sequencing did not identify variants in the second IFT43 allele or in other IFT complex A-protein-encoding genes, immunocytochemistry showed increased accumulation of IFT-B proteins at the ciliary tip in patient-derived fibroblasts compared to control cells, demonstrating defective retrograde ciliary transport. This could suggest a ciliary defect in the pathogenesis of this disorder. © 2016 Wiley Periodicals, Inc. PMID:26892345

  15. 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

    PubMed

    Noh, Grace J; Graham, John M

    2012-05-01

    We report a 2-year-old female who initially presented with seizures, developmental delay and dysmorphic features and was found to have a 0.3 Mb deletion at chromosome 2q23.1 encompassing the critical seizure gene, MBD5. Her distinct physical features include bifrontal narrowing with brachycephaly, low anterior hairline, hypotonic facial features with short upturned nose, flat nasal bridge, hypertelorism, tented upper lip with everted lower lip, downturned corners of her mouth, and relatively coarse facial features including thickened tongue. She also had a short neck, brachytelephalangy, clinodactyly, and hypertrichosis. At 3½ years she developed progressive ataxia and lost vocabulary at the age of 4. Regression has been reported in one other case of MBD5 deletion. MBD5 is a member of the methyl binding gene family and appears to be responsible for regulating DNA methylation in the central nervous system. Our patient was entirely deleted for the MBD5 gene with partial loss of the EPC2 gene, which suggests that haploinsufficiency of MBD5 is responsible for the distinct phenotype observed. This supports the hypothesis that MBD5 is indeed the critical gene implicated for the findings seen in patients with deletions of chromosome 2q23.1. Further studies are necessary to delineate the role that the MBD5 gene plays in the development of the brain and these specific physical characteristics. PMID:22659271

  16. 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

    PubMed

    Noh, Grace J; Graham, John M

    2012-01-01

    We report a 2-year-old female who initially presented with seizures, developmental delay and dysmorphic features and was found to have a 0.3 Mb deletion at chromosome 2q23.1 encompassing the critical seizure gene, MBD5. Her distinct physical features include bifrontal narrowing with brachycephaly, low anterior hairline, hypotonic facial features with short upturned nose, flat nasal bridge, hypertelorism, tented upper lip with everted lower lip, downturned corners of her mouth, and relatively coarse facial features including thickened tongue. She also had a short neck, brachytelephalangy, clinodactyly, and hypertrichosis. At 3½ years she developed progressive ataxia and lost vocabulary at the age of 4. Regression has been reported in one other case of MBD5 deletion. MBD5 is a member of the methyl binding gene family and appears to be responsible for regulating DNA methylation in the central nervous system. Our patient was entirely deleted for the MBD5 gene with partial loss of the EPC2 gene, which suggests that haploinsufficiency of MBD5 is responsible for the distinct phenotype observed. This supports the hypothesis that MBD5 is indeed the critical gene implicated for the findings seen in patients with deletions of chromosome 2q23.1. Further studies are necessary to delineate the role that the MBD5 gene plays in the development of the brain and these specific physical characteristics. PMID:22085995

  17. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

    PubMed Central

    Antoniou, Antonis C.; Sinilnikova, Olga M.; McGuffog, Lesley; Healey, Sue; Nevanlinna, Heli; Heikkinen, Tuomas; Simard, Jacques; Spurdle, Amanda B.; Beesley, Jonathan; Chen, Xiaoqing; Neuhausen, Susan L.; Ding, Yuan C.; Couch, Fergus J.; Wang, Xianshu; Fredericksen, Zachary; Peterlongo, Paolo; Peissel, Bernard; Bonanni, Bernardo; Viel, Alessandra; Bernard, Loris; Radice, Paolo; Szabo, Csilla I.; Foretova, Lenka; Zikan, Michal; Claes, Kathleen; Greene, Mark H.; Mai, Phuong L.; Rennert, Gad; Lejbkowicz, Flavio; Andrulis, Irene L.; Ozcelik, Hilmi; Glendon, Gord; Gerdes, Anne-Marie; Thomassen, Mads; Sunde, Lone; Caligo, Maria A.; Laitman, Yael; Kontorovich, Tair; Cohen, Shimrit; Kaufman, Bella; Dagan, Efrat; Baruch, Ruth Gershoni; Friedman, Eitan; Harbst, Katja; Barbany-Bustinza, Gisela; Rantala, Johanna; Ehrencrona, Hans; Karlsson, Per; Domchek, Susan M.; Nathanson, Katherine L.; Osorio, Ana; Blanco, Ignacio; Lasa, Adriana; Benítez, Javier; Hamann, Ute; Hogervorst, Frans B.L.; Rookus, Matti A.; Collee, J. Margriet; Devilee, Peter; Ligtenberg, Marjolijn J.; van der Luijt, Rob B.; Aalfs, Cora M.; Waisfisz, Quinten; Wijnen, Juul; van Roozendaal, Cornelis E.P.; Peock, Susan; Cook, Margaret; Frost, Debra; Oliver, Clare; Platte, Radka; Evans, D. Gareth; Lalloo, Fiona; Eeles, Rosalind; Izatt, Louise; Davidson, Rosemarie; Chu, Carol; Eccles, Diana; Cole, Trevor; Hodgson, Shirley; Godwin, Andrew K.; Stoppa-Lyonnet, Dominique; Buecher, Bruno; Léoné, Mélanie; Bressac-de Paillerets, Brigitte; Remenieras, Audrey; Caron, Olivier; Lenoir, Gilbert M.; Sevenet, Nicolas; Longy, Michel; Ferrer, Sandra Fert; Prieur, Fabienne; Goldgar, David; Miron, Alexander; John, Esther M.; Buys, Saundra S.; Daly, Mary B.; Hopper, John L.; Terry, Mary Beth; Yassin, Yosuf; Gschwantler-Kaulich, Daphne; Staudigl, Christine; Hansen, Thomas v. O.; Barkardottir, Rosa Bjork; Kirchhoff, Tomas; Pal, Prodipto; Kosarin, Kristi; Offit, Kenneth; Piedmonte, Marion; Rodriguez, Gustavo C.; Wakeley, Katie; Boggess, John F.; Basil, Jack; Schwartz, Peter E.; Blank, Stephanie V.; Toland, Amanda E.; Montagna, Marco; Casella, Cinzia; Imyanitov, Evgeny N.; Allavena, Anna; Schmutzler, Rita K.; Versmold, Beatrix; Engel, Christoph; Meindl, Alfons; Ditsch, Nina; Arnold, Norbert; Niederacher, Dieter; Deißler, Helmut; Fiebig, Britta; Suttner, Christian; Schönbuchner, Ines; Gadzicki, Dorothea; Caldes, Trinidad; de la Hoya, Miguel; Pooley, Karen A.; Easton, Douglas F.; Chenevix-Trench, Georgia

    2009-01-01

    Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1, rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07–1.25, P-trend = 2.8 × 10−4]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1.14, 95% CI: 1.04–1.25, P = 0.0047; BRCA2: HR = 1.18 95% CI: 1.04–1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98–1.14) was consistent with odds ratio estimates derived from population-based case–control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not. PMID:19656774

  18. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

    PubMed

    Antoniou, Antonis C; Sinilnikova, Olga M; McGuffog, Lesley; Healey, Sue; Nevanlinna, Heli; Heikkinen, Tuomas; Simard, Jacques; Spurdle, Amanda B; Beesley, Jonathan; Chen, Xiaoqing; Neuhausen, Susan L; Ding, Yuan C; Couch, Fergus J; Wang, Xianshu; Fredericksen, Zachary; Peterlongo, Paolo; Peissel, Bernard; Bonanni, Bernardo; Viel, Alessandra; Bernard, Loris; Radice, Paolo; Szabo, Csilla I; Foretova, Lenka; Zikan, Michal; Claes, Kathleen; Greene, Mark H; Mai, Phuong L; Rennert, Gad; Lejbkowicz, Flavio; Andrulis, Irene L; Ozcelik, Hilmi; Glendon, Gord; Gerdes, Anne-Marie; Thomassen, Mads; Sunde, Lone; Caligo, Maria A; Laitman, Yael; Kontorovich, Tair; Cohen, Shimrit; Kaufman, Bella; Dagan, Efrat; Baruch, Ruth Gershoni; Friedman, Eitan; Harbst, Katja; Barbany-Bustinza, Gisela; Rantala, Johanna; Ehrencrona, Hans; Karlsson, Per; Domchek, Susan M; Nathanson, Katherine L; Osorio, Ana; Blanco, Ignacio; Lasa, Adriana; Benítez, Javier; Hamann, Ute; Hogervorst, Frans B L; Rookus, Matti A; Collee, J Margriet; Devilee, Peter; Ligtenberg, Marjolijn J; van der Luijt, Rob B; Aalfs, Cora M; Waisfisz, Quinten; Wijnen, Juul; van Roozendaal, Cornelis E P; Peock, Susan; Cook, Margaret; Frost, Debra; Oliver, Clare; Platte, Radka; Evans, D Gareth; Lalloo, Fiona; Eeles, Rosalind; Izatt, Louise; Davidson, Rosemarie; Chu, Carol; Eccles, Diana; Cole, Trevor; Hodgson, Shirley; Godwin, Andrew K; Stoppa-Lyonnet, Dominique; Buecher, Bruno; Léoné, Mélanie; Bressac-de Paillerets, Brigitte; Remenieras, Audrey; Caron, Olivier; Lenoir, Gilbert M; Sevenet, Nicolas; Longy, Michel; Ferrer, Sandra Fert; Prieur, Fabienne; Goldgar, David; Miron, Alexander; John, Esther M; Buys, Saundra S; Daly, Mary B; Hopper, John L; Terry, Mary Beth; Yassin, Yosuf; Singer, Christian; Gschwantler-Kaulich, Daphne; Staudigl, Christine; Hansen, Thomas v O; Barkardottir, Rosa Bjork; Kirchhoff, Tomas; Pal, Prodipto; Kosarin, Kristi; Offit, Kenneth; Piedmonte, Marion; Rodriguez, Gustavo C; Wakeley, Katie; Boggess, John F; Basil, Jack; Schwartz, Peter E; Blank, Stephanie V; Toland, Amanda E; Montagna, Marco; Casella, Cinzia; Imyanitov, Evgeny N; Allavena, Anna; Schmutzler, Rita K; Versmold, Beatrix; Engel, Christoph; Meindl, Alfons; Ditsch, Nina; Arnold, Norbert; Niederacher, Dieter; Deissler, Helmut; Fiebig, Britta; Suttner, Christian; Schönbuchner, Ines; Gadzicki, Dorothea; Caldes, Trinidad; de la Hoya, Miguel; Pooley, Karen A; Easton, Douglas F; Chenevix-Trench, Georgia

    2009-11-15

    Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1, rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07-1.25, P-trend = 2.8 x 10(-4)]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1.14, 95% CI: 1.04-1.25, P = 0.0047; BRCA2: HR = 1.18 95% CI: 1.04-1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98-1.14) was consistent with odds ratio estimates derived from population-based case-control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not. PMID:19656774

  19. Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35

    PubMed Central

    Marazita, Mary L.; Murray, Jeffrey C.; Lidral, Andrew C.; Arcos-Burgos, Mauricio; Cooper, Margaret E.; Goldstein, Toby; Maher, Brion S.; Daack-Hirsch, Sandra; Schultz, Rebecca; Mansilla, M. Adela; Field, L. Leigh; Liu, You-e; Prescott, Natalie; Malcolm, Sue; Winter, Robin; Ray, Ajit; Moreno, Lina; Valencia, Consuelo; Neiswanger, Katherine; Wyszynski, Diego F.; Bailey-Wilson, Joan E.; Albacha-Hejazi, Hasan; Beaty, Terri H.; McIntosh, Iain; Hetmanski, Jacqueline B.; Tunçbilek, Gökhan; Edwards, Matthew; Harkin, Louise; Scott, Rodney; Roddick, Laurence G.

    2004-01-01

    Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 genotyped individuals) revealed CL/P genes in six chromosomal regions, including a novel region at 9q21 (heterogeneity LOD score [HLOD]=6.6). In addition, meta-analyses with the addition of results from 186 more families (six populations; 1,033 genotyped individuals) showed genomewide significance for 10 more regions, including another novel region at 2q32-35 (P=.0004). These are the first genomewide significant linkage results ever reported for CL/P, and they represent an unprecedented demonstration of the power of linkage analysis to detect multiple genes simultaneously for a complex disorder. PMID:15185170

  20. Linkage mapping of the gene for Type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism

    SciTech Connect

    Tiller, G.E.; Polumbo, P.A.; Summar, M.L. )

    1994-03-15

    The gene for the [alpha]1(III) chain of type III collagen, COL3A1, has been previously mapped to human chromosome 2q24.3-q31 by in situ hybridization. Physical mapping by pulsed-field gel electrophoresis has demonstrated that COL3A1 lies within 35 kb of COL5A2. The authors genotyped the CEPH families at the COL3A2 locus using a pentanucleotide repeat polymorphism within intron 25. They demonstrated significant linkage to 18 anonymous markers as well as the gene for carbamyl phosphate synthetase (CPSI), which had been previously mapped to this region. No recombination was seen between COL3A1 and COL5A2 (Z = 9.93 at [theta] = 0) or D2S24 (Z = 10.55 at [theta] = 0). The locus order is (D2S32-D2S138-D2S148)-(D2S24-COL5A2-COL3A1)-(D2S118-D2S161), with odds of 1:2300 for the next most likely order. These relationships are consistent with the physical mapping of COL3A1 to the distal portion of 2q and place it proximal to CPSI by means of multipoint analysis. These linkage relationships should prove useful in further studies of Ehlers-Danlos syndrome type IV and carbamyl phosphate synthetase I deficiency and provide an additional framework for localizing other genes in this region. 13 refs., 2 figs., 1 tab.

  1. Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism

    PubMed Central

    Tosca, Lucie; Brisset, Sophie; Petit, François M; Lecerf, Laure; Rousseau, Ghislaine; Bas, Cécile; Laroudie, Mireille; Maurin, Marie-Laure; Tapia, Sylvie; Picone, Olivier; Prevot, Sophie; Goossens, Michel; Labrune, Philippe; Tachdjian, Gérard

    2010-01-01

    A mosaicism is defined by the presence of two or more populations of cells with different genotypes in one individual. Chromosomal germinal mosaicism occurs in germ cells before the onset of meiosis. Previously, few studies have described germinal mosaicism. In this study, we report on two siblings who carried identical pure and direct interstitial 4q22.2q32.3 duplication. Procedure investigations included complete clinical description, conventional cytogenetic analysis, fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH) array experiments and microsatellite study searching for parental origin of the duplication. Microarray CGH and further FISH experiments with BAC clones showed the same 70.8 Mb direct duplication, dup(4)(q22.2q32.3). Molecular studies of the 4q duplication were consistent with maternal origin associated with mitotic or meiotic rearrangements. This structural chromosomal aberration was associated in both cases with increased nuchal translucency, growth retardation and dysmorphy. Cardiopathy and lung malformations were only evident in the first case. These clinical manifestations are similar to those previously reported in previous studies involving pure 4q trisomy of the same region, except for thumb and renal abnormalities that were not obvious in the presented cases. The amplified region included genes involved in neurological development (NEUROG2, MAB21L2, PCDH10/18 and GRIA2). The recurrent 4q duplication in these siblings is consistent with a maternal ovarian germinal mosaicism. This is the first description of germinal mosaicism for a large chromosomal duplication and highlights that genetic counselling for apparently de novo chromosome aberration should be undertaken with care. PMID:20424646

  2. Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

    PubMed Central

    Cuscó, Ivon; del Campo, Miguel; Vilardell, Mireia; González, Eva; Gener, Blanca; Galán, Enrique; Toledo, Laura; Pérez-Jurado, Luis A

    2008-01-01

    Background Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, skeletal abnormalities, and unusual dermatoglyphic patterns with prominent fingertip pads. A 3.5 Mb duplication at 8p23.1-p22 was once reported as a specific alteration in KS but has not been confirmed in other patients. The molecular basis of KS remains unknown. Methods We have studied 16 Spanish patients with a clinical diagnosis of KS or KS-like to search for genomic imbalances using genome-wide array technologies. All putative rearrangements were confirmed by FISH, microsatellite markers and/or MLPA assays, which also determined whether the imbalance was de novo or inherited. Results No duplication at 8p23.1-p22 was observed in our patients. We detected complex rearrangements involving 2q in two patients with Kabuki-like features: 1) a de novo inverted duplication of 11 Mb with a 4.5 Mb terminal deletion, and 2) a de novo 7.2 Mb-terminal deletion in a patient with an additional de novo 0.5 Mb interstitial deletion in 16p. Additional copy number variations (CNV), either inherited or reported in normal controls, were identified and interpreted as polymorphic variants. No specific CNV was significantly increased in the KS group. Conclusion Our results further confirmed that genomic duplications of 8p23 region are not a common cause of KS and failed to detect other recurrent rearrangement causing this disorder. The detection of two patients with 2q37 deletions suggests that there is a phenotypic overlap between the two conditions, and screening this region in the Kabuki-like patients should be considered. PMID:18405349

  3. Xenobiotic metal-induced autoimmunity: mercury and silver differentially induce antinucleolar autoantibody production in susceptible H-2s, H-2q and H-2f mice

    PubMed Central

    Hansson, M; Abedi-Valugerdi, M

    2003-01-01

    Xenobiotic-metals such as mercury (Hg) and silver (Ag) induce an H-2 linked antinucleolar autoantibody (ANolA) production in susceptible mice. The mechanism for induction of ANolA synthesis is not well understood. However, it has been suggested that both metals interact with nucleolar proteins and reveal cryptic self-peptides to nontolerant autoreactive T cells, which in turn stimulate specific autoreactive B cells. In this study, we considered this suggestion and asked if mercury and silver display, if not identical, similar cryptic self-peptides, they would induce comparable ANolA responses in H-2 susceptible mice. We analysed the development of ANolA production in mercury- and/or silver-treated mice of H-2s, H-2q and H-2f genotypes. We found that while mercury stimulated ANolA synthesis in all strains tested, silver induced ANolA responses of lower magnitudes in only H-2s and H-2q mice, but not in H-2f mice. Resistance to silver in H-2f mice was independent of the dosage/time-period of silver-treatment and non-H-2 genes. Further studies showed that F1 hybrid crosses between silver-susceptible A.SW (H-2s) and -resistant A.CA (H-2f) mice were resistant to silver, but not mercury with regard to ANolA production. Additionally, the magnitudes of mercury-induced ANolA responses in the F1 hybrids were lower than those of their parental strains. The above differential ANolA responses to mercury and silver can be explained by various factors, including the different display of nucleolar cryptic peptides by these xenobiotics, determinant capture and coexistence of different MHC molecules. Our findings also suggest that the ability of a xenobiotic metal merely to create cryptic self-peptides may not be sufficient for the induction of an ANolA response. PMID:12605692

  4. A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations.

    PubMed

    Bravo-Oro, Antonio; Lurie, Iosif W; Elizondo-Cárdenas, Gabriela; Peña-Zepeda, Claudia; Salazar-Martínez, Abel; Correa-González, Cecilia; Castrillo, José Luis; Avila, Silvia; Esmer, Carmen

    2015-08-01

    Many chromosomal deletions encompassing the 2q23.1 region have been described ranging from small deletions of 38 kb up to >19 Mb. Most phenotypic features of the 2q23.1 deletion syndrome are due to a MBD5 gene loss independent of the size of the deletion. Here, we describe a male patient harboring a novel interstitial deletion encompassing the 2q22.3 q23.3 chromosomal region. Array-CGH revealed a 7.1 Mb deletion causing haploinsufficiency of several genes including MBD5, ACVR2, KIF5C, and EPC2. This patient presents with additional findings to those already described in individuals who have deletions of MBD5 including toes absence of halluces, pure red cell aplasia, and intestinal aganglionosis. Interestingly, in the deleted region there are previously identified regulatory sequences which are located upstream to ZEB2, which is associated with Hirschsprung disease (HSCR). Several genes have been associated with pure red cell aplasia, but to our knowledge, this is the first time that 2q deletion is associated with this phenotype. These additional findings should be added to the list of manifestations associated with 2q deletion, and provide support for the hypothesis that this individual has a true contiguous gene deletion syndrome. PMID:25988649

  5. Fractional exhaled nitric oxide in childhood is associated with 17q11.2-q12 and 17q12-q21 variants

    PubMed Central

    Timpson, Nicolas J; Salam, Muhammad T; Standl, Marie; Curtin, John A; Genuneit, Jon; Kerhof, Marjan; Kreiner-Møller, Eskil; Cáceres, Alejandro; Gref, Anna; Liang, Liming L; Taal, H Rob; Bouzigon, Emmanuelle; Demenais, Florence; Nadif, Rachel; Ober, Carole; Thompson, Emma E; Estrada, Karol; Hofman, Albert; Uitterlinden, André G; van Duijn, Cornélia; Rivadeneira, Fernando; Li, Xia; Eckel, Sandrah P; Berhane, Kiros; Gauderman, W James; Granell, Raquel; Evans, David M; St Pourcain, Beate; McArdle, Wendy; Kemp, John P; Smith, George Davey; Tiesler, Carla MT; Flexeder, Claudia; Simpson, Angela; Murray, Clare S; Fuchs, Oliver; Postma, Dirkje S; Bønnelykke, Klaus; Torrent, Maties; Andersson, Martin; Sleiman, Patrick; Hakonarson, Hakon; Cookson, William O; Moffatt, Miriam F; Paternoster, Lavinia; Melén, Erik; Sunyer, Jordi; Bisgaard, Hans; Koppelman, Gerard H; Ege, Markus; Custovic, Adnan; Heinrich, Joachim; Gilliland, Frank D; Henderson, Alexander J; Jaddoe, Vincent WV; de Jongste, Johan C

    2014-01-01

    Background The fractional concentration of nitric oxide in exhaled air (FeNO) is a biomarker of eosinophilic airway inflammation and associated with childhood asthma. Identification of common genetic variants associated with childhood FeNO may help to define biological mechanisms related to specific asthma phenotypes. Objective To identify genetic variants associated with childhood FeNO, and their relation with asthma. Methods FeNO was measured in children aged 5 to 15 years. In 14 genome-wide association (GWA) studies (N = 8,858), we examined the associations of ~2.5 million single nucleotide polymorphisms (SNPs) with FeNO. Subsequently, we assessed whether significant SNPs were expression quantitative trait loci (eQTLs) in genome-wide expression datasets of lymphoblastoid cell lines (N = 1,830), and were related with asthma in a previously published GWA dataset (cases: n=10,365; controls: n=16,110). Results We identified 3 SNPs associated with FeNO: rs3751972 in LYR motif containing 9 (LYRM9) (P = 1.97×10−10) and rs944722 in inducible nitric oxide synthase 2 (NOS2) (P = 1.28×10−9) both located at 17q11.2-q12, and rs8069176 near gasdermin B (GSDMB) (P = 1.88×10−8) at 17q12-q21. We found a cis eQTL for the transcript soluble galactoside-binding lectin 9 (LGALS9) that is in linkage disequilibrium with rs944722. Rs8069176 was associated with GSDMB and ORM1-like 3 (ORMDL3) expression. Rs8069176 at 17q12-q21, and not rs3751972 and rs944722 at 17q11.2-q12, were associated with physician-diagnosed asthma. Conclusion This study identified 3 variants associated with FeNO, explaining 0.95% of the variance. Identification of functional SNPs and haplotypes in these regions might provide novel insight in the regulation of FeNO. This study highlights that both shared and distinct genetic factors affect FeNO and childhood asthma. PMID:24315451

  6. The human MCP-3 gene (SCYA7): Cloning, sequence analysis, and assignment to the C-C chemokine gene cluster on chromosome 17q11. 2-q12

    SciTech Connect

    Opdenakker, G.; Fiten, P.; Nys, G.; Froyen, G.; Van Damme, J. ); Van Roy, N.; Speleman, F.; Laureys, G. )

    1994-05-15

    Monocyte chemotactic proteins (MCPs) are chemokines involved in macrophage recruitment during inflammation and cancer. A full-size MCP-3 cDNA was used to isolate the functional human MCP-3 gene. Based on restriction analysis, subclones were selected and the MCP-3 gene sequence was completed. In addition to a dense region with direct and inverted repeats and palindromic sequences, a double microsatellite (CA)[sub n]-(GA)[sub n] was found at the 5[prime]-end of the MCP-3 gene, and an RFLP was detected. The gene was regionally mapped by fluorescence in situ hybridization to human chromosome 17, subbands q11.2-q12. This site contains the MCP-subset of C-C chemokines and can be distinguished from the syntenic MIP-1[alpha] locus. SCYA7 was assigned as the locus symbol of the MCP-3 gene. Double-labeling experiments confirmed the regional assignment of the MCP-3 gene close to the ERBB2 locus on human chromosome 17. 36 refs., 4 figs.

  7. Organization of the human gene for nucleobindin (NUC) and its chromosomal assignment to 19q13.2-q13.4

    SciTech Connect

    Miura, Keiji; Kurosawa, Yoshikazu; Hirai, Momoki

    1996-06-01

    Nucleobindin (Nuc) was first identified as a secreted protein of 55 kDa that promotes production of DNA-specific antibodies in lupus-prone MRL/lpr mice. Analysis of cDNA that encoded Nuc revealed that the protein is composed of a signal peptide, a DNA-binding site, two calcium-binding motifs (EF-hand motifs), and a leucine zipper. In the present study, we analysed the organization of the human gene for Nuc (NUC). It consists of 13 exons that are distributed in a region of 32 kb. The functional motifs listed above are encoded in corresponding exons. NUC was expressed in all organs examined. Comparison of nucleotide sequences in the promotre regions between human and mouse NCU genes revealed several conserved sequences. Among them, two Sp1-binding sites and a CCAAT box are of particular interest. The promoter is of the TATA-less type, and transcription starts at multiple sites in both the human and the mouse genes. These features suggest that NUC might normally play a role as a housekeeping gene. NUC was located at human chromosome 19q13.2-q13.4. 25 refs., 4 figs., 1 tab.

  8. Structural, half-metallic magnetism and elastic properties of the KMnQ2 (Q=O, S, Se, Te) chalcogenides from first-principles calculations

    NASA Astrophysics Data System (ADS)

    Benmakhlouf, A.; Bentabet, A.; Bouhemadou, A.; Maabed, S.; Benghia, A.; Khenata, R.; Bin-Omran, S.

    2016-06-01

    The structural, electronic, magnetic and elastic properties of the ternary chalcogenides KMnQ2 (Q=O, S, Se, Te) crystals were investigated by means of spin-polarized density functional theory calculations. The 3d orbitals of the Mn atoms were treated using the GGA+U approach. The calculated equilibrium structural parameters agree well with the experimental data. Based on the analysis of the spin-polarized band structures and density of states, we predict the half-metallic character of the studied compounds, with a half-metallic gap of 1.38 eV, 0.53 eV, 0.37 eV and 0.14 eV for KMnO2, KMnS2, KMnSe2 and KMnTe2, respectively, and a total magnetic moment of 4.00μB per unit-cell for all considered structures. The examined properties for the title compounds include also the single-crystal elastic constants, bulk modulus, shear modulus, Young's modulus and Poisson's ratio.

  9. Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.

    PubMed Central

    Asher, J H; Morell, R; Friedman, T B

    1991-01-01

    Waardenburg syndrome type I (WS1; MIM 19350) is caused by a pleiotropic, autosomal dominant mutation with variable penetrance and expressivity. Of individuals with this mutation, 20%-25% are hearing impaired. A multilocus linkage analysis of RFLP data from a single WS1 family with 11 affected individuals indicates that the WS1 mutation in this family is linked to the following four marker loci located on the long arm of chromosome 2: ALPP (alkaline phosphatase, placental), FN1 (fibronectin 1), D2S3 (a unique-copy DNA segment), and COL6A3 (collagen VI, alpha 3). For the RFLP marker loci, a multilocus linkage analysis using MLINK produced a peak lod (Z) of 3.23 for the following linkage relationships and recombination fractions (theta i): (ALPP----.000----FN1)----.122----D2S3----.267----CO L6A3. A similar analysis produced a Z of 6.67 for the following linkage relationships and theta i values among the markers and WS1: (FN1----.000----WS1----.000----ALPP)----.123----D2S 3----.246----COL6A3. The data confirm the conclusion of Foy et al. that at least some WS1 mutations map to chromosome 2q. Images Figure 2 PMID:1670751

  10. Modeling partial monosomy for human chromosome 21q11.2-q21.1 reveals haploinsufficient genes influencing behavior and fat deposition.

    PubMed

    Migdalska, Anna M; van der Weyden, Louise; Ismail, Ozama; White, Jacqueline K; Sánchez-Andrade, Gabriela; Logan, Darren W; Arends, Mark J; Adams, David J

    2012-01-01

    Haploinsufficiency of part of human chromosome 21 results in a rare condition known as Monosomy 21. This disease displays a variety of clinical phenotypes, including intellectual disability, craniofacial dysmorphology, skeletal and cardiac abnormalities, and respiratory complications. To search for dosage-sensitive genes involved in this disorder, we used chromosome engineering to generate a mouse model carrying a deletion of the Lipi-Usp25 interval, syntenic with 21q11.2-q21.1 in humans. Haploinsufficiency for the 6 genes in this interval resulted in no gross morphological defects and behavioral analysis performed using an open field test, a test of anxiety, and tests for social interaction were normal in monosomic mice. Monosomic mice did, however, display impaired memory retention compared to control animals. Moreover, when fed a high-fat diet (HFD) monosomic mice exhibited a significant increase in fat mass/fat percentage estimate compared with controls, severe fatty changes in their livers, and thickened subcutaneous fat. Thus, genes within the Lipi-Usp25 interval may participate in memory retention and in the regulation of fat deposition. PMID:22276124

  11. Measurement of the photon structure function F {2/γ}(x, Q2) in the region 0.2< Q 2<7 GeV2

    NASA Astrophysics Data System (ADS)

    Aihara, H.; Alston-Garnjost, M.; Avery, R. E.; Barbaro-Galtieri, A.; Barker, A. R.; Barnes, A. V.; Barnett, B. A.; Bauer, D. A.; Bengtsson, H.-U.; Bintinger, D. L.; Bobbink, G. J.; Bolognese, T. S.; Bross, A. D.; Buchanan, C. D.; Buijs, A.; Caldwell, D. O.; Clark, A. R.; Cowan, G. D.; Crane, D. A.; Dahl, O. I.; Derby, K. A.; Eastman, J. J.; Eberhard, P. H.; Edberg, T. K.; Eisner, A. M.; Enomoto, R.; Erné, F. C.; Fujii, T.; Gary, J. W.; Gorn, W.; Hauptman, J. M.; Hofmann, W.; Huth, J. E.; Hylen, J.; Kamae, T.; Kaye, H. S.; Kees, K. H.; Kenney, R. W.; Kerth, L. T.; Ko, W.; Koda, R. I.; Kofler, R. R.; Kwong, K. K.; Lander, R. L.; Langeveld, W. G. J.; Layter, J. G.; Linde, F. L.; Lindsey, C. S.; Loken, S. C.; Lu, A.; Lu, X.-Q.; Lynch, G. R.; Madaras, R. J.; Maeshima, K.; Magnuson, B. D.; Marx, J. N.; Masek, G. E.; Mathis, L. G.; Matthews, J. A. J.; Maxfield, S. J.; Melnikoff, S. O.; Miller, E. S.; Moses, W.; McNeil, R. R.; Nemethy, P.; Nygren, D. R.; Oddone, P. J.; Paar, H. P.; Park, D. A.; Park, S. K.; Pellett, D. E.; Pripstein, M.; Ronan, M. T.; Ross, R. R.; Rouse, F. R.; Schwitkis, K. A.; Sens, J. C.; Shapiro, G.; Shapiro, M. D.; Shen, B. C.; Slater, W. E.; Smith, J. R.; Steinman, J. S.; Stevenson, M. L.; Stork, D. H.; Strauss, M. G.; Sullivan, M. K.; Takahashi, T.; Thompson, J. R.; Toge, N.; Toutounchi, S.; van Tyen, R.; van Uitert, B.; Vandalen, G. J.; van Daalen Wetters, R. F.; Vernon, W.; Wagner, W.; Wang, E. M.; Wang, Y. X.; Wayne, M. R.; Wenzel, W. A.; White, J. T.; Williams, M. C. S.; Wolf, Z. R.; Yamamoto, H.; Yellin, S. J.; Zeitlin, C.; Zhang, W.-M.

    1987-03-01

    We present a measurement of the photon structure function F {2/γ} in the reaction ee→eeX for Q 2 in the range 0.2< Q 2<7 GeV2, using 9,200 multihadron events obtained with the TPC/Two-Gamma detector at PEP. The data have been corrected for detector effects using a regularized unfolding procedure and are presented as a function of x and Q 2. The structure function shows scaling in the region 0.3< Q 2<1.6 GeV2, x<0.3 and rises for higher Q 2. At Q 2=5.1 GeV2 the results are compared with QCD and, within the scheme of Antoniadis and Grunberg, rather conservative bounds for the QCD scale parameter of 133±50<Λ _{overline {MS} } <268±98 MeV are obtained. A study of the final state structure shows that the rise of F {2/γ} is consistent with being entirely due to the pointlike component of the photon.

  12. Line mixing effects in solar occultation spectra of the lower stratosphere - Measurements and comparisons with calculations for the 1932/cm CO2 Q branch

    NASA Technical Reports Server (NTRS)

    Rinsland, Curtis P.; Strow, L. Larrabee

    1989-01-01

    Line mixing effects have been observed in a CO2 Q branch recorded in 0.01/cm-resolution IR solar occultation spectra of the lower stratosphere. The spectral data were obtained by the Atmospheric Trace Molecule Spectroscopy Fourier transform spectrometer during the Spacelab 3 mission in the spring of 1985. Analysis of the 1932.47/cm Q branch of (C-12)(O-16)2 shows absorption coefficients below the band origin about 0.62 times those calculated using a standard Voigt line-shape function. Calculations of line mixing using the Lorentz halfwidths of the lines and a simple energy-gap scaling law to parameterize rotational energy transfer reproduce the observed absorption coefficients to about 10 percent. The present results provide the first quantitative information on air-broadened line mixing effects in a Q branch at low temperatures (about 210 K) and show that these effects are significant even at the low pressures of the lower stratosphere (about 100 mbar).

  13. Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.

    PubMed

    Linhares, Natália D; Valadares, Eugênia R; da Costa, Silvia S; Arantes, Rodrigo R; de Oliveira, Luiz Roberto; Rosenberg, Carla; Vianna-Morgante, Angela M; Svartman, Marta

    2016-09-01

    We report on a 16-year-old boy with a maternally inherited ~ 18.3 Mb Xq13.2-q21.31 duplication delimited by aCGH. As previously described in patients with similar duplications, his clinical features included intellectual disability, developmental delay, speech delay, generalized hypotonia, infantile feeding difficulties, self-injurious behavior, short stature and endocrine problems. As additional findings, he presented recurrent seizures and pubertal gynecomastia. His mother was phenotypically normal and had completely skewed inactivation of the duplicated X chromosome, as most female carriers of such duplications. Five previously reported patients with partial Xq duplications presented duplication breakpoints similar to those of our patient. One of them, a fetus with multiple congenital abnormalities, had the same cytogenetic duplication breakpoint. Three of the reported patients shared many features with our proband but the other had some clinical features of the Prader-Willi syndrome. It was suggested that ATRX overexpression could be involved in the major clinical features of patients with partial Xq duplications. We propose that this gene could also be involved with the obesity of the patient with the Prader-Willi-like phenotype. Additionally, we suggest that the PCDH11X gene could be a candidate for our patient's recurrent seizures. In males, the Xq13-q21 duplication should be considered in the differential diagnosis of Prader-Willi syndrome, as previously suggested, and neuromuscular diseases, particularly mitochondriopathies. PMID:27617217

  14. A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss.

    PubMed

    Zhao, Jianhua; Noon, Sarah E; Krantz, Ian D; Wu, Yaning

    2016-06-01

    We report on a 4-year-old female who presented with unilateral sensorineural hearing loss and a concern for developmental delay. A genome-wide SNP array analysis was performed and revealed a de novo 3.2 Mb interstitial deletion of chromosome 7q31.2q31.31. This region contains thirteen protein-encoding genes. It is unknown whether haploinsufficiency of any of these genes is responsible for the clinical features of our patient. We reviewed, the clinical phenotype of a previously published 7q31.3 deletion patient and 18 additional patients with overlapping 7q31 deletions listed in the DECIPHER database. The most consistent feature in these patients and our proband is delayed speech and language development. Hearing loss is presented both in our proband and the published 7q31.3 patient. Our study suggests that a small region on chromosome 7q31.3 encompassing four genes, CFTR, CTTNBP2, NAA38, and ANKRD7, may represent a new locus for congenital hearing loss and/or speech development. © 2016 Wiley Periodicals, Inc. PMID:27075776

  15. Recurrent HERV-H-Mediated 3q13.2q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

    PubMed Central

    Shuvarikov, Andrey; Campbell, Ian M.; Dittwald, Piotr; Neill, Nicholas J.; Bialer, Martin G.; Moore, Christine; Wheeler, Patricia G.; Wallace, Stephanie E.; Hannibal, Mark C.; Murray, Michael F.; Giovanni, Monica A.; Terespolsky, Deborah; Sodhi, Sandi; Cassina, Matteo; Viskochil, David; Moghaddam, Billur; Herman, Kristin; Brown, Chester; Gambin, Anna; Cheung, Sau Wai; Patel, Ankita; Lamb, Allen N.; Shaffer, Lisa G.; Ellison, Jay W.; Ravnan, J. Britt; Stankiewicz, Paweł; Rosenfeld, Jill A.

    2015-01-01

    We describe the molecular and clinical characterization of nine individuals with recurrent, 3.4-Mb, de novo deletions of 3q13.2q13.31 detected by chromosomal microarray analysis. All individuals have hypotonia and language and motor delays and also variably express mild to moderate cognitive delays (8/9), abnormal behavior (7/9), and autism spectrum disorders (3/9). Common facial features include down-slanting palpebral fissures with epicanthal folds, a slightly bulbous nose, and relative macrocephaly. Twenty-eight genes map to the deleted region, including four strong candidate genes, DRD3, ZBTB20, GAP43, and BOC, with important roles in neural and/or muscular development. Analysis of the breakpoint regions based on array data revealed directly oriented human endogenous retrovirus (HERV-H) elements ∼5kb in size and of >95% DNA sequence identity flanking the deletion. Subsequent DNA sequencing revealed different deletion breakpoints and suggested non-allelic homologous recombination (NAHR) between HERV-H elements as a mechanism of deletion formation, analogous to HERV-I-flanked and NAHR-mediated AZFa deletions. We propose that similar HERV elements may also mediate other recurrent deletion and duplication events on a genome-wide scale. Observation of rare recurrent chromosomal events such as these deletions helps to further the understanding of mechanisms behind naturally occurring variation in the human genome and its contribution to genetic disease. PMID:23878096

  16. A unique de novo interstitial deletion of chromosome 17, del(17)(q23.2q24.3) in a female newborn with multiple congenital anomalies

    SciTech Connect

    Levin, M.L.; Shaffer, L.G.; Lewis, R.A.

    1994-09-01

    Contiguous gene or microdeletion syndromes occurring on chromosome 17p include the Smith-Magenis and Miller-Dieker syndromes associated with interstitial deletions of 17p11.2 and 17p13.3, respectively. Other cytogenetically visible interstitial deletions on chromosome 17 are quite rare or unique. We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del(17)(q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. We have compared our patient`s phenotype and karyotype to two reported patients with deletion 17q with minor clinical overlap. The most striking clinical features of this patient were severe intrauterine growth retardation, widespread skeletal malformations (split sutures, hypoplastic acetabulae and scapulae, vertebral anomalies, and digital hypoplasia), cutis verticis gyrata, dysmorphic facial features, and oropharyngeal malformations (absent uvula and submucous cleft palate). Mild congenital heart disease and anomalous optic nerves were also present. Parental karyotyps were normal. DNA from parents and patient has been collected and cell lines established on both parents. Genes which have been previously mapped to the region that is apparently deleted in this patient include: chorionic somatomammotropin A, growth hormone (normal), acid alpha-glucosidase, apolipoprotein H, and the alpha peptide of type 4 voltage gated sodium channel. As in other clinical cytogenetic syndromes, further descriptions of patients with similar or overlapping rearrangements in this region will be necessary to delineate genotype/phenotype correlations for chromosome 17.

  17. Acute Lymphoblastic Leukemia (ALL) with t(8;14)(q11.2;q32): B-cell disease with high proportion of Down Syndrome. A Children's Oncology Group (COG) Study

    PubMed Central

    Messinger, Yoav H.; Higgins, Rodney R.; Devidas, Meenakshi; Hunger, Stephen P.; Carroll, Andrew J.; Heerema, Nyla A.

    2012-01-01

    The rare translocation t(8;14)(q11.2;q32) has been described in patients with B-cell acute lymphoblastic leukemia (ALL), particularly patients with Down Syndrome (DS). We describe patients with t(8;14)(q11.2;q32) that were identified by the Children's Oncology Group (COG) ALL cytogenetics database, expanding our previous report of 10 patients with this translocation. Twenty-two such patients were treated with COG protocols. All patients had B-cell ALL and 7 (31.8%) had DS. None of the children with DS had an event, thus these patients had a superior estimated 5-year event-free survival (EFS) compared to non-DS patients (100% vs. 50.1 ± 17.7%; p=0.04). Only one patient (4.5%) had a concomitant Philadelphia chromosome t(9;22)(q34;q11.2). The cytogenetics data of two additional patients, who were not eligible for COG protocols, are also included in this report. In conclusion, ALL patients with the recurring translocation t(8;14)(q11.2;q32) have B-cell phenotype and a high percentage have DS. Children with DS and t(8;14)(q11.2;q34) have improved event-free survival using standard COG therapy compared to non-DS patients. We did not find an increased number of patients with a concomitant Philadelphia chromosome in this population. PMID:22939398

  18. Stabilization of the previously unknown tautomer HP(OH)2 of hypophosphorous acid as ligand; preparation of [W3(Ni(HP(OH)2))Q4(H2O)9]4+ (Q = S, Se) complexes.

    PubMed

    Sokolov, Maxim N; Hernández-Molina, Rita; Clegg, William; Fedin, Vladimir P; Mederos, Alfredo

    2003-01-01

    Bis(hydroxy)phosphine, the isomer of hypophosphorous acid which remained elusive for a long time, coordinates to the Ni site of heterometallic clusters with a W3NiQ4 core (Q = S, Se) to give [W3(Ni(HP(OH)2))Q4(H2O)9]4+ (Q = S, Se). PMID:12611005

  19. Targeted gene walking by low stringency polymerase chain reaction: Assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31

    SciTech Connect

    Malo, M.S.; Srivastava, K.; Andresen, J.M.; Ingram, V.M.; Chen, X.N.; Korenberg, J.R.

    1994-04-12

    The authors have developed a low stringency polymerase chain reaction (LSPCR) to isolate the unknown neighboring region around a known DNA sequence, thus allowing efficient targeted gene walking. The method involves the polymerase chain reaction (PCR) with a single primer under conditions of low stringency for primer annealing (40{degrees}C) for the first few cycles followed by more cycles at high stringency (55{degrees}C). Nested PCRs with end-labeled primers are then used to generate a ladder of radioactive bands, which accurately identifies the targeted fragment(s). They performed LSPCR on human placental DNA using a highly conserved sodium channel-specific primer for 5 cycles at 40{degrees}C followed by 27 cycles at 55{degrees}C for primer annealing. Subsequently, using higher stringency (55{degrees}C) PCR with radiolabeled nested primers for 8 cycles, they have isolated a 0.66-kb fragment of a putative human sodium channel gene. Partial sequence (325 bp) of this fragment revealed a 270-bp region (exon) with homology to the rat brain sodium channel III{alpha} (RBIII) gene at the nucleotide (87%) and amino acid (92%) levels. Therefore, the authors putatively assign this sequence as a part of a gene coding the {alpha}-subunit of a human brain type III sodium channel (SCN3A). Using PCR on two human/rodent somatic cell hybrid panels with primers specific to this putative SCN3A gene, they have localized this gene to chromosome 2. Fluorescence in situ hybridization to human metaphase chromosomes was used to sublocalize the SCN3A gene to chromosome at 2q24-31. In conclusion, LSPCR is an efficient and sensitive method for targeted gene walking and is also useful for the isolation of homologous genes in related species.

  20. Genetic dissection of the pre-eclampsia susceptibility locus on chromosome 2q22 reveals shared novel risk factors for cardiovascular disease.

    PubMed

    Johnson, Matthew P; Brennecke, Shaun P; East, Christine E; Dyer, Thomas D; Roten, Linda T; Proffitt, J Michael; Melton, Phillip E; Fenstad, Mona H; Aalto-Viljakainen, Tia; Mäkikallio, Kaarin; Heinonen, Seppo; Kajantie, Eero; Kere, Juha; Laivuori, Hannele; Austgulen, Rigmor; Blangero, John; Moses, Eric K

    2013-07-01

    Pre-eclampsia is an idiopathic pregnancy disorder promoting morbidity and mortality to both mother and child. Delivery of the fetus is the only means to resolve severe symptoms. Women with pre-eclamptic pregnancies demonstrate increased risk for later life cardiovascular disease (CVD) and good evidence suggests these two syndromes share several risk factors and pathophysiological mechanisms. To elucidate the genetic architecture of pre-eclampsia we have dissected our chromosome 2q22 susceptibility locus in an extended Australian and New Zealand familial cohort. Positional candidate genes were prioritized for exon-centric sequencing using bioinformatics, SNPing, transcriptional profiling and QTL-walking. In total, we interrogated 1598 variants from 52 genes. Four independent SNP associations satisfied our gene-centric multiple testing correction criteria: a missense LCT SNP (rs2322659, P = 0.0027), a synonymous LRP1B SNP (rs35821928, P = 0.0001), an UTR-3 RND3 SNP (rs115015150, P = 0.0024) and a missense GCA SNP (rs17783344, P = 0.0020). We replicated the LCT SNP association (P = 0.02) and observed a borderline association for the GCA SNP (P = 0.07) in an independent Australian case-control population. The LRP1B and RND3 SNP associations were not replicated in this same Australian singleton cohort. Moreover, these four SNP associations could not be replicated in two additional case-control populations from Norway and Finland. These four SNPs, however, exhibit pleiotropic effects with several quantitative CVD-related traits. Our results underscore the genetic complexity of pre-eclampsia and present novel empirical evidence of possible shared genetic mechanisms underlying both pre-eclampsia and other CVD-related risk factors. PMID:23420841

  1. Paracentric inversion of chromosome 7 (46,XX,inv(7)(q21.2q22)) in a newborn with hypoplastic left heart syndrome

    SciTech Connect

    Kuforjii, T.A.; Pillers, D.M.; Silberbach, M.

    1994-09-01

    Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease that is uniformly fatal without surgical intervention. Fetal echocardiography allows prenatal diagnosis, but this condition may not become apparent until after the mid-second trimester. We report a term baby with severe HLHS who had an 18 week fetal ultrasound that reportedly demonstrated a normal heart. There was no family history of congenital heart disease. She was phenotypically female with no dysmorphic features. Physical examination was otherwise normal. She expired at 48 hours of age. The autopsy was noncontributory. The karyotype was 46,XX, but there was an apparently balanced paracentric inversion of the long arm of chromosome 7 (46,XX,inv(7)(q21.2q22)). The mother`s chromosome study was normal without any inversion, and the father was not available for study. Hypoplastic left heart syndrome has been associated with extracardiac anomalies and chromosomal abnormalities including 45,XO,11q-, and trisomy 18. It has also been reported in 5 members spanning 3 generations of a family with a spectrum of left heart defects suggesting an autosomal dominant pattern with high penetrance. First-degree relatives of infants with HLHS have a thirteen percent incidence of related cardiovascular malformations, a frequency higher than predicted by a multifactorial model of inheritance, suggesting that at least a portion of HLHS have a genetic basis. Karyotype analysis, including high resolution banding, may help define the etiology of this condition. Chromosome 7 has not been implicated in HLHS. This case emphasizes the need for genetic analysis, including a pedigree, of affected families. It also underscores the importance of screening by karyotype analysis to determine whether defects of the long arm of chromosome 7 are important in the pathogenesis of hypoplastic left heart syndrome.

  2. A Constitutional Translocation t(1;17)(p36.2;q11.2) in a Neuroblastoma Patient Disrupts the Human NBPF1 and ACCN1 Genes

    PubMed Central

    Staes, Katrien; Vandesompele, Jo; Laureys, Geneviève; De Smet, Els; Berx, Geert; Speleman, Frank; van Roy, Frans

    2008-01-01

    The human 1p36 region is deleted in many different types of tumors, and so it probably harbors one or more tumor suppressor genes. In a Belgian neuroblastoma patient, a constitutional balanced translocation t(1;17)(p36.2;q11.2) may have led to the development of the tumor by disrupting or activating a gene. Here, we report the cloning of both translocation breakpoints and the identification of a novel gene that is disrupted by this translocation. This gene, named NBPF1 for Neuroblastoma BreakPoint Family member 1, belongs to a recently described gene family encoding highly similar proteins, the functions of which are unknown. The translocation truncates NBPF1 and gives rise to two chimeric transcripts of NBPF1 sequences fused to sequences derived from chromosome 17. On chromosome 17, the translocation disrupts one of the isoforms of ACCN1, a potential glioma tumor suppressor gene. Expression of the NBPF family in neuroblastoma cell lines is highly variable, but it is decreased in cell lines that have a deletion of chromosome 1p. More importantly, expression profiling of the NBPF1 gene showed that its expression is significantly lower in cell lines with heterozygous NBPF1 loss than in cell lines with a normal 1p chromosome. Meta-analysis of the expression of NBPF and ACCN1 in neuroblastoma tumors indicates a role for the NBPF genes and for ACCN1 in tumor aggressiveness. Additionally, DLD1 cells with inducible NBPF1 expression showed a marked decrease of clonal growth in a soft agar assay. The disruption of both NBPF1 and ACCN1 genes in this neuroblastoma patient indicates that these genes might suppress development of neuroblastoma and possibly other tumor types. PMID:18493581

  3. Genome-wide association meta-analyses identified 1q43 and 2q32.2 for hip Ward's triangle areal bone mineral density.

    PubMed

    Pei, Yu-Fang; Hu, Wen-Zhu; Hai, Rong; Wang, Xiu-Yan; Ran, Shu; Lin, Yong; Shen, Hui; Tian, Qing; Lei, Shu-Feng; Zhang, Yong-Hong; Papasian, Christopher J; Deng, Hong-Wen; Zhang, Lei

    2016-10-01

    Aiming to identify genomic variants associated with osteoporosis, we performed a genome-wide association meta-analysis of bone mineral density (BMD) at Ward's triangle of the hip in 7175 subjects from 6 samples. We performed in silico replications with femoral neck, trochanter, and inter-trochanter BMDs in 6912 subjects from the Framingham heart study (FHS), and with forearm, femoral neck and lumbar spine BMDs in 32965 subjects from the GEFOS summary results. Combining the evidence from all samples, we identified 2 novel loci for areal BMD: 1q43 (rs1414660, discovery p=1.20×10(-8), FHS p=0.05 for trochanter BMD; rs9287237, discovery p=3.55×10(-7), FHS p=9.20×10(-3) for trochanter BMD, GEFOS p=0.02 for forearm BMD, nearest gene FMN2) and 2q32.2 (rs56346965, discovery p=7.48×10(-7), FHS p=0.10 for inter-trochanter BMD, GEFOS p=0.02 for spine BMD, nearest gene NAB1). The two lead SNPs rs1414660 and rs56346965 are eQTL sites for the genes GREM2 and NAB1 respectively. Functional annotation of GREM2 and NAB1 illustrated their involvement in BMP signaling pathway and in bone development. We also replicated three previously reported loci: 5q14.3 (rs10037512, discovery p=3.09×10(-6), FHS p=8.50×10(-3), GEFOS p=1.23×10(-24) for femoral neck BMD, nearest gene MEF2C), 6q25.1 (rs3020340, discovery p=1.64×10(-6), GEFOS p=1.69×10(-3) for SPN-BMD, nearest gene ESR1) and 7q21.3 (rs13310130, discovery p=8.79×10(-7), GEFOS p=2.61×10(-7) for spine BMD, nearest gene SHFM1). Our findings provide additional insights that further enhance our understanding of bone development, osteoporosis, and fracture pathogenesis. PMID:27397699

  4. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.

    PubMed

    Yu, Hung-Chun; Coughlin, Curtis R; Geiger, Elizabeth A; Salvador, Blake J; Elias, Ellen R; Cavanaugh, Jean L; Chatfield, Kathryn C; Miyamoto, Shelley D; Shaikh, Tamim H

    2016-05-01

    Restrictive cardiomyopathy (RCM) is a rare cause of heart muscle disease with the highest mortality rate among cardiomyopathy types. The etiology of RCM is poorly understood, although genetic causes have been implicated, and syndromic associations have been described. Here, we describe a patient with an atrial septal defect and restrictive cardiomyopathy along with craniofacial anomalies and intellectual disabilities. Initial screening using chromosomal microarray analysis (CMA) identified a maternally inherited 2q13 microdeletion. The patient had many of the features reported in previous cases with the recurrent 2q13 microdeletion syndrome. However, the inheritance of the microdeletion from an unaffected mother combined with the low incidence (10%) and milder forms of cardiac defects in previously reported cases made the clinical significance of the CMA results unclear. Whole-exome sequencing (WES) with trio-based analysis was performed and identified a paternally inherited TMEM87B mutation (c.1366A>G, p.Asn456Asp) in the patient. TMEM87B, a highly conserved, transmembrane protein of currently unknown function, lies within the critical region of the recurrent 2q13 microdeletion syndrome. Furthermore, a recent study had demonstrated that depletion of TMEM87B in zebrafish embryos affected cardiac development and led to cardiac hypoplasia. Thus, by combining CMA and WES, we potentially uncover an autosomal-recessive disorder characterized by a severe cardiac phenotype caused by mutations in TMEM87B. This study expands the spectrum of phenotypes associated with the recurrent 2q13 microdeletion syndrome and also further suggests the role of TMEM87B in its etiology, especially the cardiac pathology. PMID:27148590

  5. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy

    PubMed Central

    Coughlin, Curtis R.; Geiger, Elizabeth A.; Salvador, Blake J.; Elias, Ellen R.; Cavanaugh, Jean L.; Chatfield, Kathryn C.; Miyamoto, Shelley D.; Shaikh, Tamim H.

    2016-01-01

    Restrictive cardiomyopathy (RCM) is a rare cause of heart muscle disease with the highest mortality rate among cardiomyopathy types. The etiology of RCM is poorly understood, although genetic causes have been implicated, and syndromic associations have been described. Here, we describe a patient with an atrial septal defect and restrictive cardiomyopathy along with craniofacial anomalies and intellectual disabilities. Initial screening using chromosomal microarray analysis (CMA) identified a maternally inherited 2q13 microdeletion. The patient had many of the features reported in previous cases with the recurrent 2q13 microdeletion syndrome. However, the inheritance of the microdeletion from an unaffected mother combined with the low incidence (10%) and milder forms of cardiac defects in previously reported cases made the clinical significance of the CMA results unclear. Whole-exome sequencing (WES) with trio-based analysis was performed and identified a paternally inherited TMEM87B mutation (c.1366A>G, p.Asn456Asp) in the patient. TMEM87B, a highly conserved, transmembrane protein of currently unknown function, lies within the critical region of the recurrent 2q13 microdeletion syndrome. Furthermore, a recent study had demonstrated that depletion of TMEM87B in zebrafish embryos affected cardiac development and led to cardiac hypoplasia. Thus, by combining CMA and WES, we potentially uncover an autosomal-recessive disorder characterized by a severe cardiac phenotype caused by mutations in TMEM87B. This study expands the spectrum of phenotypes associated with the recurrent 2q13 microdeletion syndrome and also further suggests the role of TMEM87B in its etiology, especially the cardiac pathology. PMID:27148590

  6. Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).

    PubMed

    Ko, Jung Min; Bae, Jun-Seok; Choi, Jin Sun; Miura, Kohji; Lee, Hye Ran; Kim, Ok-Hwa; Kim, Nayoung K D; Oh, Sun Kyung; Ozono, Keiichi; Lee, Choon-Ki; Choi, In Ho; Park, Woong-Yang; Cho, Tae-Joon

    2015-05-01

    Chromosomal translocation of 2q37.1 just distal to the NPPC gene coding for C-type natriuretic peptide (CNP) and subsequent overproduction of CNP have been reported to cause a skeletal overgrowth syndrome. Loeys-Dietz syndrome (LDS) is one of marfanoid overgrowth syndromes, of which subtype IV is caused by haploinsufficiency of transforming growth factor beta 2 (TGFB2). We report on a girl with clinical phenotypes of overgrowth syndrome, including long and slim body habitus, macrodactyly of the big toe, scoliosis, ankle valgus deformity, coxa valga, slipped capital femoral epiphysis, and aortic root dilatation. Karyotyping revealed a balanced chromosomal translocation between 1q41 and 2q37.1, and the breakpoints could be mapped by targeted resequencing analysis. On chromosome 2q37.1, the translocation took place 200,365 bp downstream of NPPC, and serum level of the amino terminal of CNP was elevated. The contralateral site of translocation on chromosome 1q41 disrupted TGFB2 gene, presumed to cause its haploinsufficiency. This case supports the concept that NPPC is overexpressed because of the loss of a specific negative regulatory control in the normal chromosomal location, and demonstrates the effectiveness of targeted resequencing in the mapping of breakpoints. PMID:25728306

  7. A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

    PubMed Central

    2014-01-01

    Background Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases. Rare mutations in a single gene or in copy number variants (CNVs) have been implicated in IS of children in Western countries. The objective of this study was to dissect the role of copy number variations in Chinese children with infantile spasms. Methods We used the Agilent Human Genome CGH microarray 180 K for genome-wide detection of CNVs. Real-time qPCR was used to validate the CNVs. We performed genomic and medical annotations for individual CNVs to determine the pathogenicity of CNVs related to IS. Results We report herein the first genome-wide CNV analysis in children with IS, detecting a total of 14 CNVs in a cohort of 47 Chinese children with IS. Four CNVs (4/47 = 8.5%) (1q21.1 gain; 1q44, 2q31.1, and 17p13 loss) are considered to be pathogenic. The CNV loss at 17p13.3 contains PAFAH1B1 (LIS1), a causative gene for lissencephaly. Although the CNVs at 1q21.1, 1q44, and 2q23.1 have been previously implicated in a wide spectrum of clinical features including autism spectrum disorders (ASD) and generalized seizure, our study is the first report identifying them in individuals with a primary diagnosis of IS. The CNV loss in the 1q44 region contains HNRNPU, a strong candidate gene recently suggested in IS by the whole exome sequencing of children with IS. The CNV loss at 2q23.1 includes MBD5, a methyl-DNA binding protein that is a causative gene of ASD and a candidate gene for epileptic encephalopathy. We also report a distinct clinical presentation of IS, microcephaly, intellectual disability, and absent hallux in a case with the 2q23.1 deletion. Conclusion Our findings strongly support the role of CNVs in infantile spasms and expand the clinical spectrum associate with 2q23.1 deletion. In particular, our

  8. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion.

    PubMed

    Quintela, Ines; Gomez-Guerrero, Lorena; Fernandez-Prieto, Montse; Resches, Mariela; Barros, Francisco; Carracedo, Angel

    2015-12-01

    In recent years, the advent of comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays and its use as a first genetic test for the diagnosis of patients with neurodevelopmental phenotypes has allowed the identification of novel submicroscopic chromosomal abnormalities (namely, copy number variants or CNVs), imperceptible by conventional cytogenetic techniques. The 3q13.31 microdeletion syndrome (OMIM #615433) has been defined as a genomic disorder mainly characterized by developmental delay, postnatal overgrowth, hypotonia, genital abnormalities in males, and characteristic craniofacial features. Although the 3q13.31 CNVs are variable in size, a 3.4 Mb recurrently altered region at 3q13.2-q13.31 has been recently described and non-allelic homologous recombination (NAHR) mediated by flanking human endogenous retrovirus (HERV-H) elements has been suggested as the mechanism of deletion formation. We expand the phenotypic spectrum associated with this recurrent deletion performing the clinical description of a 9-year-old female patient with autistic disorder, total absence of language, intellectual disability, anxiety disorder and disruptive, and compulsive eating behaviors. The array-based molecular karyotyping allowed the identification of a de novo recurrent 3q13.2-q13.31 deletion encompassing 25 genes. In addition, we compare her clinical phenotype with previous reports of patients with neurodevelopmental and behavioral disorders and proximal 3q microdeletions. Finally, we also review the candidate genes proposed so far for these phenotypes. PMID:26332054

  9. Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 EPH families using 15 polymorphic loci in the region 5q11. 2-q13. 3

    SciTech Connect

    Wirth, B.; Pick, E.; Leutner, A.; Dadze, A.; Voosen, B.; Piechaczek-Wappenschmidt, B.; Rudnik-Schoeneborn, S.; Schoenling, J.; Zerres, K. ); Knapp, M. )

    1994-03-01

    The autosomal recessive proximal spinal muscular atrophy (SMA) gene was mapped to the region 5q11.2-q.13.3 in 1990. Here, the authors present a large genetic linkage study of 100 SMA families and 11 CEPH families using 14 polymorphic simple sequence repeats (SSRs) and one RFLP in the region 5q11.2-q.13.3. The genetic interval between the closest SMA flanking loci D5S435 and D5S557 comprises 1 cM at z[sub max] = 27.94. Two recombinants were identified between the SMA gene and the closest telomeric marker D5S557. The first places the SMA gene centromeric to this marker; the second suggests a double recombinant at D5S557, which is very unlikely. More likely explanations are discussed in the paper. No recombinant was found between D5S435 and the SMA gene. They localized a recently described polymorphic marker, D5S351, close to the SMA. Due to its high PIC value of 0.70, it represents a very useful marker for prenatal diagnosis. In addition, they developed a new reverse primer for the nearest centromeric locus D5S435, a useful marker for prenatal diagnosis, which has been very difficult to amplify in the past. Three of the markers presented here are newly developed polymorphic SSRs (one tetranucleotide repeat, D5s507/W15CATT, and two dinucleotide repeats, D5S544/C88.2GT and D5S682/C88.3GT). These markers are too far from the SMA gene to be relevant for cloning; nevertheless, as part of the human genome project, they are contributing to the fine genetic mapping of the region 5q11.2-q.13.3. The most likely order of the loci based on two-point and multipoint linkage analyses as well as on specific recombination events and physical mapping studies is D5S76-D5S507-D5S6-D5S125-D5S680-D5S435-SMA-D5S557-D5S35 -15[prime]MAP1B-3[prime]MAP1B-JK53CA1/2-(D5S127-D5S39)-(D5S544-D5S682). In general, the genetic distances obtained from the SMA and CEPH families are comparable. 25 refs., 4 figs., 5 tabs.

  10. Cytogenomic Delineation and Clinical Follow-up of Two Siblings with an 8.5 Mb 6q24.2-q25.2 Deletion Inherited From a Paternal Insertion†

    PubMed Central

    Meloni, Vera Ayres; Guilherme, Roberta Santos; Oliveira, Mariana Moyses; Migliavacca, Michele; Takeno, Sylvia Satomi; Sobreira, Nara Lygia Macena; Soares, Maria de Fatima Faria; de Mello, Claudia Berlim; Melaragno, Maria Isabel

    2014-01-01

    The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5 Mb 6q24.2-q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta. PMID:24898331

  11. Single pi+ Electroproduction on the Proton in the First and Second Resonance Regions at 0.25GeV^2 < Q^2 < 0.65GeV^2 Using CLAS

    SciTech Connect

    H. Egiyan; I.G. Aznauryan; V.D. Burkert; K.A. Griffioen; K. Joo; R. Minehart; L.C. Smith

    2006-01-05

    The ep {yields} e'pi{sup +}n reaction was studied in the first and second nucleon resonance regions in the 0.25 GeV{sup 2} < Q{sup 2} < 0.65 GeV{sup 2} range using the CLAS detector at Thomas Jefferson National Accelerator Facility. For the first time the absolute cross sections were measured covering nearly the full angular range in the hadronic center-of-mass frame. The structure functions {sigma}{sub TL}, {sigma}{sub TT} and the linear combination {sigma}{sub T} + {epsilon}{sigma}{sub L} were extracted by fitting the {phi}-dependence of the measured cross sections, and were compared to the MAID and Sato-Lee models.

  12. The gene for the serpin thrombin inhibitor (P17), protease nexin I, is located on human chromosome 2q33-q35 and on syntenic regions in the mouse and sheep genomes

    SciTech Connect

    Carter, R.E.; Burkin, D.J.; Fournier, R.E.K.

    1995-05-01

    Protease nexin I (PNI) is the most important physiologic regulator of {alpha}-thrombin in tissues. PNI is highly expressed and developmentally regulated in the nervous system where it is concentrated at neuromuscular junctions and also central synapses in the hippocampus and striatum. Approximately 10% of identified proteins at mammalian neuromuscular junctions are serine protease inhibitors, consistent with their central role in balancing serine protease activity to develop, maintain, and remodel synapses. Southern blot hybridization of PNI cDNA to somatic cell hybrids placed the structural gene for PNI (locus PI7) on human chromosome 2q33-q35 and to syntenic chromosomes in the mouse (chromosome 1) and sheep (chromosome 2). 30 refs., 2 figs.

  13. Genome-Wide Linkage Scan for Prostate Cancer Susceptibility in Finland: Evidence for a Novel Locus on 2q37.3 and confirmation of signal on 17q21-q22

    PubMed Central

    Cropp, Cheryl D.; Simpson, Claire L; Wahlfors, Tiina; Ha, Nati; George, Asha; Jones, MaryPat S.; Harper, Ursula; Ponciano-Jackson, Damaris; Green, Tiffany A.; Tammela, Teuvo L. J.; Bailey-Wilson, Joan; Schleutker, Johanna

    2011-01-01

    Genome-wide linkage studies have been used to localize rare and highly penetrant prostate cancer (PRCA) susceptibility genes. Linkage studies performed in different ethnic backgrounds and populations have been somewhat disparate, resulting in multiple, often irreproducible signals because of genetic heterogeneity and high sporadic background of the disease. Our first genome-wide linkage study and subsequent fine-mapping study of Finnish hereditary prostate cancer (HPC) families gave evidence of linkage to one region. Here, we conducted subsequent scans with microsatellites and SNPs in a total of 69 Finnish HPC families. GENEHUNTER-PLUS was used for parametric and non-parametric analyses. Our microsatellite genome-wide linkage study provided evidence of linkage to 17q12-q23, with a heterogeneity LOD (HLOD) score of 3.14 in a total of 54 of the 69 families. Genome-wide SNP analysis of 59 of the 69 families gave a highest HLOD score of 3.40 at 2q37.3 under a dominant high penetrance model. Analyzing all 69 families by combining microsatellite and SNP maps also yielded HLOD scores of > 3.3 in two regions (2q37.3 and 17q12-q21.3). These significant linkage peaks on chromosome 2 and 17 confirm previous linkage evidence of a locus on 17q from other populations and provide a basis for continued research into genetic factors involved in PRCA. Fine-mapping analysis of these regions is ongoing and candidate genes at linked loci are currently under analysis. PMID:21207418

  14. Improved molecular diagnosis of unparental disomy 15 in Prader-Willi and Angelman syndromes utilizing new short tandem repeats (STRs) mapped to chromosome 15q11.2-q12

    SciTech Connect

    Christian, S.L.; Kubota, T.; Ledbetter, D.H.

    1994-09-01

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental retardation disorders caused by paternal (PWS) or maternal (AS) deficiencies of chromosome 15q11.2-q12. Three STRs (D15S11, GABRB3, and D15S113) were previously developed utilizing YACs from this region as a molecular diagnostic test for PWS/AS. Since then twenty-three new STRs have been developed by several groups which map to 15q11.2-q12. Fine mapping of some of these markers was accomplished utilizing a 3.5 Mb YAC contig of this region. Three new CEPH-Genethon markers, D15S122, D15S128, and D15S210 were mapped within the smallest PWS/AS critical regions. D15S122 mapped to YACs 230H12 and 132D4, D15S128 mapped to YACs 457B4, 11H11, and B58C7, and D15S210 mapped to 132D4 and B230E3. To improve molecular diagnosis of uniparental disomy in PWS/AS, D15S122 and D15S128 with >70% hetrozygosities were placed in a new multiplex PCR reaction with D15S11. Additionally, three CEPH-Genethon markers with high heterozygosities from distal 15q, D15S123, D15S125, and D15S131, were used establish a second multiplex to increase the total number of markers analyzed to six. Twenty-three patients with uniparental disomy 15 were compared using the original multiplex and the two new multiplexes. The results indicated that 16/23 had at least one fully informative marker with the original multiplex and 23/23 using the two new multiplexes. Using a more rigorous diagnostic criterion of two fully informative markers, only 8/23 were informative with the original multiplex and 21/23 with the two new multiplexes. These results demonstrate that these two new multiplexes composed of a total of six polymorphic STRs provide an improved diagnostic test for uniparental disomy 15.

  15. Association of polymorphism at COL3A and CTLA4 loci on chromosome 2q31-33 with the clinical phenotype and in-vitro CMI status in healthy and leprosy subjects: a preliminary study.

    PubMed

    Kaur, G; Sachdeva, G; Bhutani, L K; Bamezai, R

    1997-07-01

    Two genetic loci, viz. COL3A and CTLA4, located within the chromosome 2q31-33 region in the vicinity of the proposed syntenic site of the mouse "Bcg" locus were genotyped by the polymerase chain reaction in leprosy patients and healthy individuals. All the subjects studied were assessed as in-vitro responders/non-responders to mycobacterial antigens. Simple sequence length polymorphism analysis revealed five (236 to 312 bp) and eight (84 to 120 bp) allelomorphs for COL3A and CTLA4, respectively. Our preliminary analysis showed a significant association between the 250-bp COL3A allelomorph in the homozygous condition and the multibacillary form of leprosy (P < 0.05: relative risk = 5.5). Another allelic (312 bp) variant of COL3A was significantly correlated with non-responsiveness to M. leprae antigens in vitro (P < 0.01). The 104-bp allelomorph of CTLA4 was not observed in any of the 25 cases of leprosy. This absence was statistically significant (P < 0.05) when compared with normal healthy controls and depicted a high relative risk (RR = 25.83). An additional observation of the predominance of a unique 84-bp CTLA4/CTLA4-like allelomorph was observed in the Indian subjects studied. PMID:9225967

  16. Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic Testing

    PubMed Central

    Salpea, Paraskevi; Horvath, Anelia; London, Edra; Faucz, Fabio R.; Vetro, Annalisa; Levy, Isaac; Gourgari, Evgenia; Dauber, Andrew; Holm, Ingrid A.; Morrison, Patrick J.; Keil, Margaret F.; Lyssikatos, Charalampos; Smith, Eric D.; Sanidad, Marc A.; Kelly, JoAnn C.; Dai, Zunyan; Mowrey, Philip; Forlino, Antonella; Zuffardi, Orsetta

    2014-01-01

    Background: Carney complex (CNC) is a multiple neoplasia syndrome caused by PRKAR1A-inactivating mutations. One-third of the patients, however, have no detectable PRKAR1A coding sequence defects. Small deletions of the gene were previously reported in few patients, but large deletions of the chromosomal PRKAR1A locus have not been studied systematically in a large cohort of patients with CNC. Setting: A tertiary care referral center was the setting for analysis of an international cohort of patients with CNC. Methods: Methods included genome-wide array analysis followed by fluorescent in situ hybridization, mRNA, and other studies as well as a retrospective analysis of clinical information and phenotype-genotype correlation. Results: We detected 17q24.2-q24.3 deletions of varying size that included the PRKAR1A gene in 11 CNC patients (of 51 tested). Quantitative PCR showed that these patients had significantly lower PRKAR1A mRNA levels. Phenotype varied but was generally severe and included manifestations that are not commonly associated with CNC, presumably due to haploinsufficiency of other genes in addition to PRKAR1A. Conclusions: A significant number (21.6%) of patients with CNC that are negative in currently available testing may have PRKAR1A haploinsufficiency due to genomic defects that are not detected by Sanger sequencing. Array-based studies are necessary for diagnostic confirmation of these defects and should be done in patients with unusual and severe phenotypes who are PRKAR1A mutation-negative. PMID:24170103

  17. Human fructose-1,6-bisphosphatase gene (FBP1): Exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency

    SciTech Connect

    El-Maghrabi, M.R.; Jiang, W.

    1995-06-10

    Fructose-1,6-bisphosphatase (EC 3.1.3.11) is a key regulatory enzyme of gluconeogenesis that catalyzes the hydrolysis of fructose-1,6-bisphosphate to generate fructose-6-phosphate and inorganic phosphate. Deficiency of fructose-1,6-bisphosphatase is associated with fasting hypoglycemia and metabolic acidosis because of impaired gluconeogenesis. We have cloned and characterized the human liver fructose-1,6-bisphosphatase gene (FBP1). FBP1, localized to chromosome bands 9q22.2-q22.3 by fluorescence in situ hybridization, consists of seven exons that span > 31 kb, and the six introns are in the same position as in the rat gene. FBP1 was screened for mutations in two subjects with fructose-1,6-bisphosphatase deficiency. Four nucleotide substitutions were identified, two of which were silent mutations in the codons for Ala-216 (GCT {yields} GCC) and Gly-319 (GGG {yields} GGA). The other substitutions were in intron 3, a C {yields} T substitution 7 nucleotides downstream from the splice donor site, and in the promoter region, an A {yields} T substitution 188 nucleotides upstream from the start of transcription. These nucleotide substitutions were also found in normal unaffected subjects and thus are not the cause of fructose-1,6-bisphosphatase deficiency in the two subjects studied. The molecular basis of hepatic fructose-1,6-bisphosphatase deficiency in these subjects remains undetermined but could result from unidentified mutations in the promoter that decrease expression or from mutations in another gene that indirectly lead to decreased fructose-1,6-bisphosphatase activity. 18 refs., 3 figs., 3 tabs.

  18. X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.

    PubMed

    Bai, Jinli; Qu, Yujin; Cao, Yanyan; Li, Yan; Zhang, Wenhui; Jin, Yuwei; Wang, Hong; Song, Fang

    2016-02-01

    X-linked ichthyosis (XLI) is an X-linked recessive skin disorder generally restricted to males, which arises from mutations in the steroid sulfatase (STS) gene located on Xp22.3. Crigler-Najjar syndrome (CN-I) is a rare autosomal recessive disease caused by the homozygous or compound heterozygous mutations in the UPD‑glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) gene on chromosome 2q37. A male patient was referred to the Department of Medical Genetics with of severe icterus and ichthyosis. The patient and his family members underwent genetic tests related to XLI and CN-I. Quantitative polymerase chain reaction on genomic DNA was performed to determine the gene copy number, while single nucleotide polymorphism array analysis was conducted to identify deletion mutations. Family pedigree analysis showed that the patient and his two cousins were all affected by ichthyosis, which was in accordance with the inheritance pattern of an X-linked recessive disease. In addition, the patient's serum bilirubin concentration (>340 mmol/l) was markedly greater than the normal level. The patient presented with kernicterus and phenobarbital treatment was ineffective. The clinical diagnosis of XLI was confirmed molecularly by laboratory evidence of a maternal 1.61 M deletion (including the STS gene) on ChrXp22.31. Coincidentally, the male patient was also confirmed to carry a rare maternal inherited microdeletion (374 Kb) comprising the entire UGT1A1 gene combined with a paternal UGT1A1 mutation (c.1253delT), a causative event of CN-I. To the best of our knowledge, this study reported for the first time the comorbidity of XLI and CN-I in a male patient. The results suggested that co-occurrence of these two recessive diseases in a patient may be incidental. PMID:26676689

  19. A Whole-Genome Scan and Fine-Mapping Linkage Study of Auditory-Visual Synesthesia Reveals Evidence of Linkage to Chromosomes 2q24, 5q33, 6p12, and 12p12

    PubMed Central

    Asher, Julian E.; Lamb, Janine A.; Brocklebank, Denise; Cazier, Jean-Baptiste; Maestrini, Elena; Addis, Laura; Sen, Mallika; Baron-Cohen, Simon; Monaco, Anthony P.

    2009-01-01

    Synesthesia, a neurological condition affecting between 0.05%–1% of the population, is characterized by anomalous sensory perception and associated alterations in cognitive function due to interference from synesthetic percepts. A stimulus in one sensory modality triggers an automatic, consistent response in either another modality or a different aspect of the same modality. Familiality studies show evidence of a strong genetic predisposition; whereas initial pedigree analyses supported a single-gene X-linked dominant mode of inheritance with a skewed F:M ratio and a notable absence of male-to-male transmission, subsequent analyses in larger samples indicated that the mode of inheritance was likely to be more complex. Here, we report the results of a whole-genome linkage scan for auditory-visual synesthesia with 410 microsatellite markers at 9.05 cM density in 43 multiplex families (n = 196) with potential candidate regions fine-mapped at 5 cM density. Using NPL and HLOD analysis, we identified four candidate regions. Significant linkage at the genome-wide level was detected to chromosome 2q24 (HLOD = 3.025, empirical genome-wide p = 0.047). Suggestive linkage was found to chromosomes 5q33, 6p12, and 12p12. No support was found for linkage to the X chromosome; furthermore, we have identified two confirmed cases of male-to-male transmission of synesthesia. Our results demonstrate that auditory-visual synesthesia is likely to be an oligogenic disorder subject to multiple modes of inheritance and locus heterogeneity. This study comprises a significant step toward identifying the genetic substrates underlying synesthesia, with important implications for our understanding of the role of genes in human cognition and perception. PMID:19200526

  20. X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3

    PubMed Central

    BAI, JINLI; QU, YUJIN; CAO, YANYAN; LI, YAN; ZHANG, WENHUI; JIN, YUWEI; WANG, HONG; SONG, FANG

    2016-01-01

    X-linked ichthyosis (XLI) is an X-linked recessive skin disorder generally restricted to males, which arises from mutations in the steroid sulfatase (STS) gene located on Xp22.3. Crigler-Najjar syndrome (CN-I) is a rare autosomal recessive disease caused by the homozygous or compound heterozygous mutations in the UPD-glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) gene on chromosome 2q37. A male patient was referred to the Department of Medical Genetics with of severe icterus and ichthyosis. The patient and his family members underwent genetic tests related to XLI and CN-I. Quantitative polymerase chain reaction on genomic DNA was performed to determine the gene copy number, while single nucleotide polymorphism array analysis was conducted to identify deletion mutations. Family pedigree analysis showed that the patient and his two cousins were all affected by ichthyosis, which was in accordance with the inheritance pattern of an X-linked recessive disease. In addition, the patient's serum bilirubin concentration (>340 mmol/l) was markedly greater than the normal level. The patient presented with kernicterus and phenobarbital treatment was ineffective. The clinical diagnosis of XLI was confirmed molecularly by laboratory evidence of a maternal 1.61 M deletion (including the STS gene) on ChrXp22.31. Coincidentally, the male patient was also confirmed to carry a rare maternal inherited microdeletion (374 Kb) comprising the entire UGT1A1 gene combined with a paternal UGT1A1 mutation (c.1253delT), a causative event of CN-I. To the best of our knowledge, this study reported for the first time the comorbidity of XLI and CN-I in a male patient. The results suggested that co-occurrence of these two recessive diseases in a patient may be incidental. PMID:26676689

  1. Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14).

    PubMed

    Chen, Emily; Choe, Michele A; Loughman, William D; Covert, Susan; Bitts, Sheila; Rowe, Amy; Beischel, Linda; Johnson, John P

    2005-01-15

    A 14-year-old boy was referred for a genetics evaluation after high-resolution chromosome analysis showed a small amount of extra material in the proximal long arm of chromosome 21. Five years prior, his karyotype analysis was interpreted as normal with a variant chromosome 21. The patient has short palpebral fissures, strabismus, flat antihelices of the ears, long thumbs with bilaterally absent interphalangeal creases, proximal bilateral 3/4 syndactyly, small testes, hypotonia, mental retardation, and speech problems. He has significant depression and behavioral problems including hyperactivity, aggression, and impulsivity. His 8-year-old brother has more severe behavioral disturbances and depression, but less significant mental retardation. A paternal aunt has mental retardation, is unusually docile, and appears similar to our patient. Chromosome analysis and fluorescence in situ hybridization (FISH) whole chromosome paint of chromosome 21 showed that the patient's father carries a "cryptic" balanced translocation, 46,XY, t(14;21)(q11.2;q11.2), as does the patient's paternal grandmother. Uniparental disomy studies using seven informative polymorphic nucleotide repeat markers from 14q and 21q confirmed biparental inheritance of the number 14 and 21 chromosomes for each brother, and indicate that they and the paternal aunt, all of whom inherited the der(14), are monosomic for proximal 21q and trisomic for proximal 14q. These karyotypes arose through an adjacent-2 segregation in the father on two occasions, and from the paternal grandmother on one occasion. This family is an example of recurrent malsegregation with translocations involving the acrocentrics. PMID:15551340

  2. Bis(cyclopentadienyl)yttrium Complexes of the Ligand [N(QPPh(2))(2)](-) (Q = S, Se): Synthesis, Structure, and NMR Properties of Cp(2)Y[eta(3)-N(QPPh(2))(2)].

    PubMed

    Pernin, Christopher G.; Ibers, James A.

    1999-11-29

    The compounds Cp(2)Y[eta(3)-N(QPPh(2))(2)] (Q = S (1), Se (2)) have been synthesized in good yield from the protonolysis reaction between Cp(3)Y and HN(QPPh(2))(2) in tetrahydrofuran. In both compounds, the [N(QPPh(2))(2)](-) ligand is bound eta(3) to the Y center which, in 1, represents the first example of that mode of binding for the sulfur-containing ligand. The Y atom is also coordinated to two (C(5)H(5))(-) ligands and so is formally 9-coordinate. Both 1 and 2 are stable in inert environments for prolonged periods of time. Each is soluble in THF and CH(2)Cl(2). (1)H, (31)P, (77)Se, and (89)Y NMR data were collected to lend insight into the solution properties of these molecules. Crystallographic data for 1 (-120 degrees C): C(34)H(30)NP(2)S(2)Y, triclinic, P&onemacr;, a = 9.685(5) Å, b = 12.176(6) Å, c = 13.978(7) Å, alpha = 87.382(9) degrees, beta = 87.358(9) degrees, gamma = 68.689(9) degrees, V = 1533(1) Å(3), Z = 2, and R(1)(F) = 0.047 for the 4023 reflections with I > 2sigma(I). Crystallographic data for 2 (-120 degrees C): C(34)H(30)NP(2)Se(2)Y, triclinic, P&onemacr;, a = 9.745(5) Å, b = 12.222(6) Å, c = 13.930(7) Å, alpha = 88.024(9) degrees, beta = 87.380(9) degrees, gamma = 69.137(9) degrees, V = 1548(1) Å(3), Z = 2, and R(1)(F) = 0.056 for the 4324 reflections with I > 2sigma(I). PMID:11671274

  3. Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression.

    PubMed

    de Bruijn, D R H; van Dijk, A H A; Pfundt, R; Hoischen, A; Merkx, G F M; Gradek, G A; Lybæk, H; Stray-Pedersen, A; Brunner, H G; Houge, G

    2010-02-01

    In a 19-year-old severely autistic and mentally retarded girl, a balanced de novo t(14;21)(q21.1;p11.2) translocation was found in addition to a de novo 2.6-Mb 2q31.1 deletion containing 15 protein-encoding genes. To investigate if the translocation might contribute to developmental stagnation at the age of 2 years with later regression of skills, i.e. a more severe phenotype than expected from the 2q31.1 deletion, the epigenetic status and expression of genes proximal and distal to the 14q21.1 breakpoint were investigated in Ebstein Barr Virus-transformed lymphoblast and primary skin fibroblast cells. The 14q21.1 breakpoint was found to be located between a cluster of 7 genes 0.1 Mb upstream, starting with FBXO33, and the single and isolated LRFN5 gene 2.1 Mb downstream. Only expression of LRFN5 appeared to be affected by its novel genomic context. In patient fibroblasts, LRFN5 expression was 10-fold reduced compared to LRFN5 expressed in control fibroblasts. In addition, a relative increase in trimethylated histone H3 lysine 9 (H3K9M3)-associated DNA starting exactly at the translocation breakpoint and going 2.5 Mb beyond the LRFN5 gene was found. At the LRFN5 promoter, there was a distinct peak of trimethylated histone H3 lysine 27 (H3K27M3)-associated DNA in addition to a diminished trimethylated histone H3 lysine 4 (H3K4M3) level. We speculate that dysregulation of LRFN5, a postsynaptic density-associated gene, may contribute to the patient's autism, even though 2 other patients with 14q13.2q21.3 deletions that included LRFN5 were not autistic. More significantly, we have shown that translocations may influence gene expression more than 2 Mb away from the translocation breakpoint. PMID:20648246

  4. An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion

    PubMed Central

    Lybæk, Helle; ørstavik, Karen Helene; Prescott, Trine; Hovland, Randi; Breilid, Harald; Stansberg, Christine; Steen, Vidar Martin; Houge, Gunnar

    2009-01-01

    In a 2 and a half-year-old girl with onset of puberty before the age of 5 months, short stature, hand anomalies and severe mental retardation, an 8.9 Mb interstitial 19p13 duplication containing 215 predicted genes was detected. It was initially assumed that the duplication involved the kisspeptin receptor gene, GPR54, known to stimulate induction of puberty, but more refined duplication mapping excluded this possibility. In an attempt to further understand the genotype–phenotype correlation, global gene expression was measured in skin fibroblasts. The overall expression pattern was quite similar to controls, and only about 25% of the duplicated genes had an expression level that was increased by more than 1.3-fold, with no obvious changes that could explain the precocious puberty. The proband's mother carried a balanced between-arm insertion of the duplicated segment that resembled a pericentric inversion. The same insertion was found in several other family members, including one who had lost a daughter with severe mental retardation and menarche at the age of 10 years. Another close relative was severely mentally retarded, but neither dysmorphic nor microcephalic. His phenotype was initially ascribed to a presumed cryptic chromosome 19 imbalance caused by the 19p-into19q insertion, but subsequent array-CGH detected a 3.9-Mb deletion of 2q23.3q24.1. This novel microdeletion involves seven genes, of which FMNL2, a suggested regulator of Rho-GTPases, and NR4A2, an essential gene for differentiation of dopaminergic neurons, may be critical genes for the proposed 2q23q24 microdeletion syndrome. PMID:19156171

  5. Genetics Home Reference: 2q37 deletion syndrome

    MedlinePlus

    ... 25 percent of people with this condition have autism, a developmental condition that affects communication and social ... Additional Information & Resources MedlinePlus (4 links) Health Topic: Autism Spectrum Disorder Health Topic: Developmental Disabilities Health Topic: ...

  6. Shorepower Truck Electrification Project (STEP) - 1Q - 2Q 2013

    SciTech Connect

    2014-02-01

    The Fleet Test and Evaluation Team at the U.S. Department of Energy's National Renewable Energy Laboratory is evaluating and documenting the use of shorepower at 50 planned American Recovery and Reinvestment Act (ARRA)-funded truck stop electrification (TSE) sites across the nation. Trucks participating in the study have idle-reduction equipment installed that was purchased with rebates through the ARRA. A total of 5,000 rebates will be approved. the ARRA. A total of 5,000 rebates will be approved.

  7. Molecular cytogenetic investigations in a novel complex variant of t(8;21)(q22;q22) with ins(15;21)(q15;q22.2q22.3) in a patient with AML-M2 subtype.

    PubMed

    Kokate, Prajakta; Ahmad, Firoz; Dalvi, Rupa; Das, Bibhu Ranjan; Mandava, Swarna

    2008-07-01

    Acute myeloid leukemia (AML) is a clinically and molecularly heterogeneous disease characterized by the aberrant proliferation of myeloid stem cells, reduced apoptosis and blockage in cellular differentiation. The present report describes the results of hematological, cytogenetic, and fluorescence in situ hybridization (FISH) analysis in a 25-year-old man diagnosed with AML-M2. Cytogenetic as well as FISH analysis revealed a complex translocation involving four chromosomes, with the karyotype 45,-Y,der(X)t(X;8)(p21;q22),der(8)t(8;21)(q22;q22),ins(15;21)(q15;q22.2q22.3),der(21)t(8;21)(q22;q22). The breakpoints at 8q22 and 21q22 suggested a rearrangement of the RUNX1T1 (alias ETO) and RUNX1 (previously AML1) genes, respectively. Using a dual-color FISH test with RUNX1T1 and RUNX1 probes, we demonstrated an RUNX1/RUNX1T1 fusion signal on the derivative chromosome 8, establishing this translocation as a novel complex variant of t(8;21)(q22;q22). PMID:18558290

  8. Dual colour fluorescence in situ hybridization to paraffin-embedded samples to deduce the presence of the der(X)t(X;18)(p11.2;q11.2) and involvement of either the SSX1 or SSX2 gene: a diagnostic and prognostic aid for synovial sarcoma.

    PubMed

    Lu, Y J; Birdsall, S; Summersgill, B; Smedley, D; Osin, P; Fisher, C; Shipley, J

    1999-03-01

    Identification of the t(X;18)(p11.2;q11.2) and the fusion gene products, SYT-SSX1 and SYT-SSX2, associated with a high proportion of synovial sarcomas, has been shown to be a useful diagnostic aid. This study demonstrates the application of dual colour fluorescence in situ hybridization to paraffin-embedded samples to deduce the presence of the derivative X chromosome and also the position of the breakpoint on chromosome X at either the SSX1 or the SSX2 gene. This used region specific markers from chromosomes X and 18 and an optimized protocol involving microwave exposure. Novel and rapid scoring criteria were validated which circumvented potential problems of nuclear truncation and defining cell boundaries. This involved blind analysis of two negative sarcoma samples and three synovial sarcomas in which corresponding frozen material had been previously shown to have the translocation involving different SSX genes. Six new cases diagnosed as synovial sarcoma were also analysed; two monophasic and two biphasic case were deduced to have a breakpoint in the SSX1 gene, one monophasic case an SSX2 breakpoint, and one case did not show rearrangement of the region. The ability to analyse formalin-fixed, paraffin-embedded samples in this way has practical implications for aiding the diagnosis of difficult cases, recently ascribed prognostic relevance, and allows further retrospective studies to be carried out. The methodology is also applicable to the identification of other tumour specific translocations in paraffin-embedded material. PMID:10398111

  9. Brief Report: A Case of Autism Associated with del(2)(q32.1q32.2) or (q32.2q32.3).

    ERIC Educational Resources Information Center

    Gallagher, Louise; Becker, Kristin; Kearney, Geraldine; Dunlop, Adam; Stallings, Ray; Green, Andrew; Fitzgerald, Michael; Gill, Michael

    2003-01-01

    This paper reports a clinical case of autism with a deletion on chromosome 2 in a young male with high functioning autism. The deletion seems to correspond with regions emerging from linkage studies. The paper proposes this chromosomal region as a possible candidate region in the search for autism genes. (Contains references.) (Author/DB)

  10. Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1-2q23.3.

    PubMed

    van Beelen, E; Schraders, M; Huygen, P L M; Oostrik, J; Plantinga, R F; van Drunen, W; Collin, R W J; Kooper, D P; Pennings, R J E; Cremers, C W R J; Kremer, H; Kunst, H P M

    2013-06-01

    A total of 64 loci for autosomal dominant non-syndromic hearing impairment have been described, and the causative genes have been identified for 24 of these. The present study reports on the clinical characteristics of an autosomal dominantly inherited hearing impairment that is linked to a region within the DFNA60 locus located on chromosome 2 in q22.1-24.1. A pedigree spanning four generations was established with 13 affected individuals. Linkage analysis demonstrated that the locus extended over a 2.96 Mb region flanked by markers D2S2335 and D2S2275. The audiograms mainly showed a distinctive U-shaped configuration. Deterioration of hearing started at a wide age range, from 12 to 40 years. Cross-sectional analysis showed rapid progression of hearing impairment from mild to severe, between the ages of 40 and 60 years, a phenomenon that is also observed in DFNA9 patients. The results of the individual longitudinal analyses were generally in line with those obtained by the cross-sectional analysis. Speech recognition scores related to the level of hearing impairment (PTA1,2,4 kHz) appeared to be fairly similar to those of presbyacusis patients. It is speculated that hearing impairment starting in mid-life, as shown by DFNA60 patients, could play a role in the development of presbyacusis. Furthermore, speech recognition did not deteriorate appreciably before the sixth decade of life. We conclude that DFNA60 should be considered in hearing impaired patients who undergo a rapid progression in middle age and are negative for DFNA9. Furthermore, cochlear implantation resulted in good rehabilitation in two DFNA60 patients. PMID:23538131

  11. L-shell resonant transfer excitation in Cuq++H2 (q=18,19) collisions

    NASA Astrophysics Data System (ADS)

    Závodszky, P. A.; Wroblewski, J. A.; Ferguson, S. M.; Gorczyca, T. W.; Houck, J. H.; Woitke, O.; Tanis, J. A.; Badnell, N. R.

    1997-09-01

    Resonant transfer excitation (RTE) involving L-1Mn (n>=M) resonant states has been investigated for Na-like and Ne-like Cuq++H2 collisions (q=18 and 19). The M- to L-shell x-ray production cross sections (RTEX's) of these resonance states are studied by x-ray projectile ion coincidences. Previous measurements of L-shell RTEX for Nbq+ (q=28-31) ions showed the measured cross sections to be nearly a factor of 2 smaller than the calculated ones. For Cu18+ the present results show the position and width of the measured RTEX maximum cross section to be in agreement with the calculations; however, the measured absolute cross sections are about 60% higher than the predicted ones. In the case of Ne-like Cu19+ projectiles, the metastable component in the beam made it impossible to observe RTEX's.

  12. De novo direct duplication of chromosome segment 22q11.2-q13.1

    SciTech Connect

    Fujimoto, Atsuko; Lin, Ming S.

    1996-03-29

    Lindsay et al. [1995] reported a case of de novo duplication of the segment 22q11-q12. Molecular cytogenetics studies showed that the segment includes the regions responsible for the {open_quotes}cat eye,{close_quotes} DiGeorge, and velo-cardio-facial syndrome, and extends distal to the breakpoint cluster region. The phenotype was milder than that of complete trisomy 22 and der(22)t(11;22) (q23;q11) syndrome and was similar in type and severity to that of {open_quotes}cat eye{close_quotes} syndrome (CES). They suggested that trisomy of gene(s) responsible for the CES might have a predominant phenotypic effect over other genes present in the region duplicated in their patient. 3 refs., 2 figs.

  13. A/M Area DNAPL characterization report for cores collected in 2Q99

    SciTech Connect

    Vangelas , K.M.

    2000-01-27

    Drilling activities were conducted in the second quarter of 1999 in the A/M Area to further delineate the soil contamination and potential areas of dense non-aqueous phase liquids below the water table emanating from the M-Basin. The purpose of the work was to further understand the subsurface contaminant distribution and to identify locations below the water table where aggressive DNAPL remediation technologies should be pursued.

  14. Fragmentation dynamics in O2q+ and COq+ molecules in intense laser pulses

    NASA Astrophysics Data System (ADS)

    Magrakvelidze, M.; Aikens, C. M.; Thumm, U.

    2011-05-01

    We investigate influence of non-adiabatic couplings on the dissociation and Coulomb-explosion (CE) dynamics of diatomic molecules in intense laser fields. To identify electronic states that contribute to the molecular dynamics, we first calculate adiabatic potential curves and electric dipole-coupling (DC) elements with the quantum chemistry code GAMESS. Next we calculate fragment-kinetic-energy-release (KER) spectra as a function of time and quantum-beat frequency for one molecular potential curve at a time and compare calculated revival times and beat frequencies with experimental data. After identifying relevant electronic states we include laser-induced DCs in improved wave-packet propagation calculations including two (or more) electronic states and again compare KER spectra with experimental results. We apply this scheme to O2 and CO. Supported by the US DOE and NSF.

  15. A Monte Carlo study of the light q sup 2 q sup 2 system

    SciTech Connect

    Grondin, G. . Dept. of Physics Oak Ridge National Lab., TN )

    1991-01-01

    We present results from a Guided Random Walk Monte Carlo simulation of the light (q = u, d) q{sup 2}{bar q}{sup 2} system in a Coulomb-plus-linear quark potential model using an Intel iPSC/860 hypercube. We find evidence for no bound states below the vector-vector threshold in the (J,I) = (2,2) and (2,0) sector. 14 refs., 2 figs.

  16. Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3

    SciTech Connect

    Greger, V.; Knoll, J.H.M.; Wagstaff, J.; Lalande, M.

    1997-03-01

    Angelman syndrome (AS) most frequently results from large ({ge}5 Mb) de novo deletions of chromosome 15q11-q13. The deletions are exclusively of maternal origin, and a few cases of paternal uniparental disomy of chromosome 15 have been reported. The latter finding indicates that AS is caused by the absence of a maternal contribution to the imprinted 15q11-q13 region. Failure to inherit a paternal 15q11-q13 contribution results in the clinically distinct disorder of Prader-Willi syndrome. Cases of AS resulting from translocations or pericentric inversions have been observed to be associated with deletions, and there have been no confirmed reports of balanced rearrangements in AS. We report the first such case involving a paracentric inversion with a breakpoint located {approximately}25 kb proximal to the reference marker D15S10. This inversion has been inherited from a phenotypically normal mother. No deletion is evident by molecular analysis in this case, by use of cloned fragments mapped to within {approximately}1 kb of the inversion breakpoint. Several hypotheses are discussed to explain the relationship between the inversion and the AS phenotype. 47 refs., 3 figs.

  17. Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization.

    PubMed

    Madrigal, Irene; Fernández-Burriel, Miguel; Rodriguez-Revenga, Laia; Cabrera, Jose Carlos; Martí, Milagros; Mur, Antonio; Milà, Montserrat

    2010-12-01

    Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, hypopituitarism and a wide range of physical findings. We identified an inherited Xq26.2-Xq26.3 duplication in two brothers with severe mental retardation, hypotonia, growth delay, craniofacial disproportion and dental malocclusion. Chromosome analysis was normal and multiplex ligation-dependent probe amplification analysis detected duplication on Xq26. Further characterization by array comparative genomic hybridization and quantitative PCR helped to determine proximal and distal duplication breakpoints giving a size of approximately 2.8 Mb. The duplication encompasses 24 known genes, including the X-linked mental retardation genes ARHGEF6, PHF6, HPRT1 and SLC9A6. Clinical and molecular characterization of Xq duplications will shed more light into the phenotypic implication of functional disomy of X-chromosome genes. PMID:20861843

  18. Measurement of the ET,jet2/Q2 dependence of forward-jet production at HERA

    NASA Astrophysics Data System (ADS)

    Breitweg, J.; Chekanov, S.; Derrick, M.; Krakauer, D.; Magill, S.; Musgrave, B.; Pellegrino, A.; Repond, J.; Stanek, R.; Yoshida, R.; Mattingly, M. C. K.; Abbiendi, G.; Anselmo, F.; Antonioli, P.; Bari, G.; Basile, M.; Bellagamba, L.; Boscherini, D.; Bruni, A.; Bruni, G.; Cara Romeo, G.; Castellini, G.; Cifarelli, L.; Cindolo, F.; Contin, A.; Coppola, N.; Corradi, M.; De Pasquale, S.; Giusti, P.; Iacobucci, G.; Laurenti, G.; Levi, G.; Margotti, A.; Massam, T.; Nania, R.; Palmonari, F.; Pesci, A.; Polini, A.; Sartorelli, G.; Zamora Garcia, Y.; Zichichi, A.; Amelung, C.; Bornheim, A.; Brock, I.; Coböken, K.; Crittenden, J.; Deffner, R.; Hartmann, H.; Heinloth, K.; Hilger, E.; Jakob, H.-P.; Kappes, A.; Katz, U. F.; Kerger, R.; Paul, E.; Rautenberg, J.; Schnurbusch, H.; Stifutkin, A.; Tandler, J.; Voss, K. C.; Weber, A.; Wieber, H.; Bailey, D. S.; Barret, O.; Brook, N. H.; Foster, B.; Heath, G. P.; Heath, H. F.; McFall, J. D.; Piccioni, D.; Rodrigues, E.; Scott, J.; Tapper, R. J.; Capua, M.; Mastroberardino, A.; Schioppa, M.; Susinno, G.; Jeoung, H. Y.; Kim, J. Y.; Lee, J. H.; Lim, I. T.; Ma, K. J.; Pac, M. Y.; Caldwell, A.; Liu, W.; Liu, X.; Mellado, B.; Sacchi, R.; Sampson, S.; Sciulli, F.; Chwastowski, J.; Eskreys, A.; Figiel, J.; Klimek, K.; Olkiewicz, K.; Przybycień, M. B.; Stopa, P.; Zawiejski, L.; Adamczyk, L.; Bednarek, B.; Jeleń, K.; Kisielewska, D.; Kowal, A. M.; Kowalski, T.; Przybycień, M.; Rulikowska-Zarȩbska, E.; Suszycki, L.; Zajac, J.; Kotański, A.; Bauerdick, L. A. T.; Behrens, U.; Bienlein, J. K.; Burgard, C.; Desler, K.; Drews, G.; Fox-Murphy, A.; Fricke, U.; Goebel, F.; Göttlicher, P.; Graciani, R.; Haas, T.; Hain, W.; Hartner, G. F.; Hasell, D.; Hebbel, K.; Johnson, K. F.; Kasemann, M.; Koch, W.; Kötz, U.; Kowalski, H.; Lindemann, L.; Löhr, B.; Martínez, M.; Milite, M.; Monteiro, T.; Moritz, M.; Notz, D.; Pelucchi, F.; Petrucci, M. C.; Piotrzkowski, K.; Rohde, M.; Saull, P. R. B.; Savin, A. A.; Schneekloth, U.; Selonke, F.; Sievers, M.; Stonjek, S.; Tassi, E.; Wolf, G.; Wollmer, U.; Youngman, C.; Zeuner, W.; Coldewey, C.; Grabosch, H. J.; Lopez-Duran Viani, A.; Meyer, A.; Schlenstedt, S.; Straub, P. B.; Barbagli, G.; Gallo, E.; Pelfer, P.; Maccarrone, G.; Votano, L.; Bamberger, A.; Eisenhardt, S.; Markun, P.; Raach, H.; Wölfle, S.; Bussey, P. J.; Doyle, A. T.; Lee, S. W.; Macdonald, N.; McCance, G. J.; Saxon, D. H.; Sinclair, L. E.; Skillicorn, I. O.; Waugh, R.; Bohnet, I.; Gendner, N.; Holm, U.; Meyer-Larsen, A.; Salehi, H.; Wick, K.; Garfagnini, A.; Gialas, I.; Gladilin, L. K.; Kçira, D.; Klanner, R.; Lohrmann, E.; Poelz, G.; Zetsche, F.; Goncalo, R.; Long, K. R.; Miller, D. B.; Tapper, A. D.; Walker, R.; Mallik, U.; Wang, S. M.; Cloth, P.; Filges, D.; Ishii, T.; Kuze, M.; Nagano, K.; Tokushuku, K.; Yamada, S.; Yamazaki, Y.; Ahn, S. H.; An, S. H.; Hong, S. J.; Lee, S. B.; Nam, S. W.; Park, S. K.; Lim, H.; Park, I. H.; Son, D.; Barreiro, F.; García, G.; Glasman, C.; Gonzalez, O.; Labarga, L.; del Peso, J.; Redondo, I.; Terrón, J.; Barbi, M.; Corriveau, F.; Hanna, D. S.; Hartmann, J.; Ochs, A.; Padhi, S.; Riveline, M.; Stairs, D. G.; Wing, M.; Tsurugai, T.; Bashkirov, V.; Dolgoshein, B. A.; Bashindzhagyan, G. L.; Ermolov, P. F.; Golubkov, Y. A.; Khein, L. A.; Korotkova, N. A.; Korzhavina, I. A.; Kuzmin, V. A.; Lukina, O. Y.; Proskuryakov, A. S.; Shcheglova, L. M.; Solomin, A. N.; Zotkin, S. A.; Bokel, C.; Botje, M.; Brümmer, N.; Engelen, J.; Koffeman, E.; Kooijman, P.; van Sighem, A.; Tiecke, H.; Tuning, N.; Velthuis, J. J.; Verkerke, W.; Vossebeld, J.; Wiggers, L.; de Wolf, E.; Bylsma, B.; Durkin, L. S.; Gilmore, J.; Ginsburg, C. M.; Kim, C. L.; Ling, T. Y.; Nylander, P.; Boogert, S.; Cooper-Sarkar, A. M.; Devenish, R. C. E.; Große-Knetter, J.; Matsushita, T.; Ruske, O.; Sutton, M. R.; Walczak, R.; Bertolin, A.; Brugnera, R.; Carlin, R.; Dal Corso, F.; Dondana, S.; Dosselli, U.; Dusini, S.; Limentani, S.; Morandin, M.; Posocco, M.; Stanco, L.; Stroili, R.; Voci, C.; Iannotti, L.; Oh, B. Y.; Okrasiński, J. R.; Toothacker, W. S.; Whitmore, J. J.; Iga, Y.; D'Agostini, G.; Marini, G.; Nigro, A.; Cormack, C.; Hart, J. C.; McCubbin, N. A.; Shah, T. P.; Epperson, D.; Heusch, C.; Sadrozinski, H. F.-W.; Seiden, A.; Wichmann, R.; Williams, D. C.; Pavel, N.; Abramowicz, H.; Dagan, S.; Kananov, S.; Kreisel, A.; Levy, A.; Abe, T.; Fusayasu, T.; Umemori, K.; Yamashita, T.; Hamatsu, R.; Hirose, T.; Inuzuka, M.; Kitamura, S.; Nishimura, T.; Arneodo, M.; Cartiglia, N.; Cirio, R.; Costa, M.; Ferrero, M. I.; Maselli, S.; Monaco, V.; Peroni, C.; Ruspa, M.; Solano, A.; Staiano, A.; Dardo, M.; Bailey, D. C.; Fagerstroem, C.-P.; Galea, R.; Koop, T.; Levman, G. M.; Martin, J. F.; Orr, R. S.; Polenz, S.; Sabetfakhri, A.; Simmons, D.; Butterworth, J. M.; Catterall, C. D.; Hayes, M. E.; Heaphy, E. A.; Jones, T. W.; Lane, J. B.; West, B. J.; Ciborowski, J.; Ciesielski, R.; Grzelak, G.; Nowak, R. J.; Pawlak, J. M.; Pawlak, R.; Smalska, B.; Tymieniecka, T.; Wróblewski, A. K.; Zakrzewski, J. A.; Żarnecki, A. F.; Adamus, M.; Gadaj, T.; Deppe, O.; Eisenberg, Y.; Hochman, D.; Karshon, U.; Badgett, W. F.; Chapin, D.; Cross, R.; Foudas, C.; Mattingly, S.; Reeder, D. D.; Smith, W. H.; Vaiciulis, A.; Wildschek, T.; Wodarczyk, M.; Deshpande, A.; Dhawan, S.; Hughes, V. W.; Bhadra, S.; Cole, J. E.; Frisken, W. R.; Hall-Wilton, R.; Khakzad, M.; Menary, S.; Schmidke, W. B.

    2000-02-01

    The forward-jet cross section in deep inelastic e+p scattering has been measured using the ZEUS detector at HERA with an integrated luminosity of 6.36 pb-1. The jet cross section is presented as a function of jet transverse energy squared, E2T,jet, and Q2 in the kinematic ranges 10- 2

  19. A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q

    SciTech Connect

    Konrad, M.; Saunier, S.; Silbermann, F.

    1995-12-10

    A gene (NPH1) responsible for approximately 90% of the purely renal form of familial juvenile nephronophthisis, a progressive tubulo-interstitial kidney disorder, maps to human chromosome 2. We report the construction of a YAC-based contig spanning the critical NPH1 region and the flanking genetic markers. This physical map was integrated with a refined genetic map that restricted the NPH1 interval to about 2 cM; this interval corresponds to a maximum physical distance of 3.5 Mb. The entire contig covers 9 cM between the loci D2S135 and D2S121. The maximum physical distance between these two markers is approximately 11.3 Mb. Forty-five sequence-tagged sites, including six genes, have been located within this contig. PAX8, a member of the human paired box gene family, that is expressed in the developing kidney, was assigned outside the restricted NPH1 critical region and cannot therefore be regarded as a candidate gene. This set of overlapping clones represents a useful resource for further targeted development of genetic markers and for the characterization of candidate genes responsible for juvenile nephronophthisis. 26 refs., 2 figs., 3 tabs.

  20. The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin.

    PubMed

    Tomaszewska, Agnieszka; Behrendt, Jakub; Boter, Marjan; Wawrzkiewicz-Witkowska, Angelika; Bos, Marnix J; Podbiol-Palenta, Agnieszka; Godula-Stuglik, Urszula; Galjaard, Robert-Jan H; Srebniak, Malgorzata I

    2016-05-01

    Tetrasomy 14q11q13 is a very rare chromosome aberration. So far, only five patients with such an imbalance were described. All these patients had a de novo marker chromosome idic(14)(q13) leading to a partial tetrasomy of chromosome 14. We report on the first case of a de novo non-mosaic partial tetrasomy 14q resulted not from a marker chromosome, but from an inverted triplication on paternal chromosome 14, characterized by using FISH and SNP array. Our patient showed some anomalies described in tetrasomy 14q11q13 with striking presence of paternal UPD(14) features (blepharophimosis, small thorax, and joint contractures, developmental delay). This unique patient supports the hypothesis that 14q11q13 may contain imprinted gene(s) that contribute to the paternal UPD(14) features of joint contractures and/or blepharophimosis. This patient demonstrates the utility of parent of origin testing in patients with de novo chromosome 14 aberrations. Overdosage of 14q11.1q13.1 may cause some features related to UPD(14) phenotype. © 2016 Wiley Periodicals, Inc. PMID:26789739

  1. Assignment of the DPP4 gene encoding adenosine deaminase binding protein (CD26/dipeptidylpeptidase IV) to 2q23

    SciTech Connect

    Mathew, S.; Morrison, M.E.; Murty, V.V.V.S.

    1994-07-01

    FISH was performed on chromosome preparations obtained from phytohemagglutinin-stimulated human blood lymphocytes. cDNA encoding ADAbp was isolated from the SK-RC-28 human renal cell carcinomas cell line using PCR technique and was cloned in pSVK3 plasmid for use as a probe. The PCR primers were constructed from the known nucleotide sequence of CD26, and the cDNA product was extracted from nucleotides 1 to 2344. The vector containing the probe was labeled by nick-translation with biotin-11-dUTP. Hybridization to chromosome spreads, washings, detection with FITC-conjugated avidin, selection and photography of metaphases, analysis of signals, and banding were performed according to the described method.

  2. X-ray absorption spectroscopy study of parent misfit-layered cobalt oxide [Sr2O2]qCoO2

    NASA Astrophysics Data System (ADS)

    Chou, Ta-Lei; Chan, Ting-Shan; Chen, Jin-Ming; Yamauchi, Hisao; Karppinen, Maarit

    2013-06-01

    Here we present a comprehensive X-ray absorption spectroscopy study carried out at Co-L2,3, Co-K, O-K and Sr-K edges for the parent misfit-layered cobalt oxide phase [Sr2O2]0.52CoO2; comparison is made to another misfit-layered oxide [CoCa2O3]0.62CoO2 and the perovskite oxide LaCoO3. A high-quality sample of [Sr2O2]0.52CoO2 was obtained through ultra-high-pressure synthesis using Sr3Co2O6 and Sr(OH)2•8H2O as starting materials. Different dosages of KClO3 were mixed with the raw materials as an oxygen source and tested, but it was found that the window for the redox control of [Sr2O2]0.52CoO2 is rather narrow. From Co-K and Co-L2,3 spectra a mixed III/IV valence state is revealed for cobalt in [Sr2O2]0.52CoO2, but the average valence value is a little lower than in [CoCa2O3]0.62CoO2. Then, Sr-K spectrum indicates that the [Sr2O2] double-layer block in [Sr2O2]0.52CoO2 clearly deviates from the cubic SrO rock-salt structure, suggesting a more complicated coordination environment for strontium. This together with a somewhat low Co-valence value and the fact that the phase formation of [Sr2O2]0.52CoO2 required the presence of Sr(OH)2•8H2O in the high-pressure synthesis suggest that the [Sr2O2] block contains OH groups, i.e. [Sr2(O,OH)2]0.52CoO2.

  3. Novel chromosome 16 abnormality--der(16)del(16) (q13)t(16;21)(p11.2;q22)--associated with acute myeloid leukemia.

    PubMed

    Sharma, P; Watson, N; Robson, L; Gallo, J; Smith, A

    1999-08-01

    Inversion of chromosome 16 is a common feature of acute myeloid leukemia (AML) M4, while t(16;21), although also associated with AML, appears to be a separate entity. We present a patient with myelodysplastic syndrome (MDS) who transformed to AML-M1. The karyotype was normal at diagnosis; at 15 months, hematological evidence of transformation was present, and repeat cytogenetics showed a novel rearrangement of one chromosome 16. Two breaks had occurred; one in the short arm at 16p11, with translocation of the segment distal to this onto chromosome 21q, and the other in the long arm at 16q22 with subsequent deletion of the segment from 16q22-->qter. Fluorescence in situ hybridization (FISH) confirmed the abnormalities detected by cytogenetics and excluded involvement of the AML1 gene on 21q22. While the 16q22 breakpoint was at the usual site for the inv(16), the 16p11 was not. The patient is more characteristic of t(16;21) than inv(16), and adds to the spectrum of chromosome 16 abnormalities in AML. PMID:10459342

  4. A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.

    PubMed

    Fachal, Laura; Gómez-Caamaño, Antonio; Barnett, Gillian C; Peleteiro, Paula; Carballo, Ana M; Calvo-Crespo, Patricia; Kerns, Sarah L; Sánchez-García, Manuel; Lobato-Busto, Ramón; Dorling, Leila; Elliott, Rebecca M; Dearnaley, David P; Sydes, Matthew R; Hall, Emma; Burnet, Neil G; Carracedo, Ángel; Rosenstein, Barry S; West, Catharine M L; Dunning, Alison M; Vega, Ana

    2014-08-01

    There is increasing evidence supporting the role of genetic variants in the development of radiation-induced toxicity. However, previous candidate gene association studies failed to elucidate the common genetic variation underlying this phenotype, which could emerge years after the completion of treatment. We performed a genome-wide association study on a Spanish cohort of 741 individuals with prostate cancer treated with external beam radiotherapy (EBRT). The replication cohorts consisted of 633 cases from the UK and 368 cases from North America. One locus comprising TANC1 (lowest unadjusted P value for overall late toxicity=6.85×10(-9), odds ratio (OR)=6.61, 95% confidence interval (CI)=2.23-19.63) was replicated in the second stage (lowest unadjusted P value for overall late toxicity=2.08×10(-4), OR=6.17, 95% CI=2.25-16.95; Pcombined=4.16×10(-10)). The inclusion of the third cohort gave unadjusted Pcombined=4.64×10(-11). These results, together with the role of TANC1 in regenerating damaged muscle, suggest that the TANC1 locus influences the development of late radiation-induced damage. PMID:24974847

  5. A genome scan in multigenerational families with dyslexia: Identification of a novel locus on chromosome 2q that contributes to phonological decoding efficiency.

    PubMed

    Raskind, W H; Igo, R P; Chapman, N H; Berninger, V W; Thomson, J B; Matsushita, M; Brkanac, Z; Holzman, T; Brown, M; Wijsman, E M

    2005-07-01

    Dyslexia is a common and complex developmental disorder manifested by unexpected difficulty in learning to read. Multiple different measures are used for diagnosis, and may reflect different biological pathways related to the disorder. Impaired phonological decoding (translation of written words without meaning cues into spoken words) is thought to be a core deficit. We present a genome scan of two continuous measures of phonological decoding ability: phonemic decoding efficiency (PDE) and word attack (WA). PDE measures both accuracy and speed of phonological decoding, whereas WA measures accuracy alone. Multipoint variance component linkage analyses (VC) and Markov chain Monte-Carlo (MCMC) multipoint joint linkage and segregation analyses were performed on 108 families. A strong signal was observed on chromosome 2 for PDE using both VC (LOD=2.65) and MCMC methods (intensity ratio (IR)=32.1). The IR is an estimate of the ratio of the posterior to prior probability of linkage in MCMC analysis. The chromosome 2 signal was not seen for WA. More detailed mapping with additional markers provided statistically significant evidence for linkage of PDE to chromosome 2, with VC-LOD=3.0 and IR=59.6 at D2S1399. Parametric analyses of PDE, using a model obtained by complex segregation analysis, provided a multipoint maximum LOD=2.89. The consistency of results from three analytic approaches provides strong evidence for a locus on chromosome 2 that influences speed but not accuracy of phonological decoding. PMID:15753956

  6. Identification of a Sudden Cardiac Death Susceptibility Locus at 2q24.2 through Genome-Wide Association in European Ancestry Individuals

    PubMed Central

    Reinier, Kyndaron; Teodorescu, Carmen; Uy-Evanado, Audrey; Carter-Monroe, Naima; Kaikkonen, Kari S.; Kortelainen, Marja-Leena; Boucher, Gabrielle; Lagacé, Caroline; Moes, Anna; Zhao, XiaoQing; Kolodgie, Frank; Rivadeneira, Fernando; Hofman, Albert; Witteman, Jacqueline C. M.; Uitterlinden, André G.; Marsman, Roos F.; Pazoki, Raha; Bardai, Abdennasser; Koster, Rudolph W.; Dehghan, Abbas; Hwang, Shih-Jen; Bhatnagar, Pallav; Post, Wendy; Hilton, Gina; Prineas, Ronald J.; Li, Man; Köttgen, Anna; Ehret, Georg; Boerwinkle, Eric; Coresh, Josef; Kao, W. H. Linda; Psaty, Bruce M.; Tomaselli, Gordon F.; Sotoodehnia, Nona; Siscovick, David S.; Burke, Greg L.; Marbán, Eduardo; Spooner, Peter M.; Cupples, L. Adrienne; Jui, Jonathan; Gunson, Karen; Kesäniemi, Y. Antero; Wilde, Arthur A. M.; Tardif, Jean-Claude; O'Donnell, Christopher J.; Bezzina, Connie R.; Virmani, Renu; Stricker, Bruno H. C. h.; Tan, Hanno L.; Albert, Christine M.; Chakravarti, Aravinda; Rioux, John D.; Huikuri, Heikki V.; Chugh, Sumeet S.

    2011-01-01

    Sudden cardiac death (SCD) continues to be one of the leading causes of mortality worldwide, with an annual incidence estimated at 250,000–300,000 in the United States and with the vast majority occurring in the setting of coronary disease. We performed a genome-wide association meta-analysis in 1,283 SCD cases and >20,000 control individuals of European ancestry from 5 studies, with follow-up genotyping in up to 3,119 SCD cases and 11,146 controls from 11 European ancestry studies, and identify the BAZ2B locus as associated with SCD (P = 1.8×10−10). The risk allele, while ancestral, has a frequency of ∼1.4%, suggesting strong negative selection and increases risk for SCD by 1.92–fold per allele (95% CI 1.57–2.34). We also tested the role of 49 SNPs previously implicated in modulating electrocardiographic traits (QRS, QT, and RR intervals). Consistent with epidemiological studies showing increased risk of SCD with prolonged QRS/QT intervals, the interval-prolonging alleles are in aggregate associated with increased risk for SCD (P = 0.006). PMID:21738491

  7. Mapping the human corticotropin releasing hormone binding protein gene (CRHBP) to the long arm of chromosome 5 (5q11.2-q13.3)

    SciTech Connect

    Vamvakopoulos, N.C.; Sioutopoulou, T.O.; Durkin, S.A.

    1995-01-01

    Unexpected stimulation or stress activates the heat shock protein (hsp) system at the cellular level and the hypothalamic-pituitary-adrenal (HPA) axis at the level of the whole organism. At the molecular level, these two systems communicate through the functional interaction between hsp90 and glucocorticoid receptor (GR). The corticotropin releasing hormone (CRH) system regulates the mammalian stress response by coordinating the activity of the HPA axis. It consists of the 41-amino-acid-long principal hypothalamic secretagogue for pituitary adrenocorticotropic hormone (ACTH), CRH, its receptor (CRHR), and its binding protein (CRHBP). Because of its central role in the coordination of stress response and whole body homeostasis, the CRH system has been implicated in the pathogenesis of neuroendocrine and psychiatric disease. 19 refs., 1 fig.

  8. Room-temperature synthesis of CuInQ2 (Q = S or Se) in non-aqueous solution using an organoindium reagent

    NASA Technical Reports Server (NTRS)

    Hepp, Aloysius F.; Andras, Maria T.; Landry, Christopher C.; Barron, Andrew R.

    1994-01-01

    We have discovered a novel two-phase synthesis of CuInSe2 at 25 deg C from Cu2Se and (C5H5)3In in 4-methylpyridine (4-MePy). An analogous reaction to produce CuInS2 must be run at 140 deg C in refluxing 4-MePy in the presence of 2-mercaptopyridine. Microscopy of CuInSe2 produced at 25 deg C shows it to be platelet-shaped crystallites with an approximate particle size of 10 microns, less than 2 percent C and H, with a small amount of unidentified crystalline impurity. Our results demonstrate that it is possible to produce from solution a material that is ordinarily synthesized in bulk or films at much higher temperatures or using extraneous reagents and/or electrons.

  9. Velocardiofacial syndrome in father and daughter: What is the mechanism for the deletion 22(q11.2q11.2) in only the daughter?

    SciTech Connect

    Magenis, R.E.; Gunter, K.; Toth-Fejel, S.

    1994-09-01

    E.G. had marked feeding difficulty noted at birth; the cause was determined to be a paralyzed palate. In 1992 chromosome studies were performed because of the provisional diagnosis of velocardiofacial syndrome, and a small interstitial deletion of chromosome 22 was found. Recently the family was seen in our Genetics Clinic. The father had unusual facial features shared by his daughter, a paralyzed upper lip and a history of repaired Tetralogy of Fallot. His chromosomes appeared normal. FISH studies were performed on the child`s peripheral blood using the ONCOR DiGeorge region probe (D22S75) and the deletion verified. However, the father`s chromosomes were not deleted for the ONCOR probe (D22S75) and probe DO832 sent to us by Peter Scambler. Skin cells were then obtained and no deletion was detected in a total of 66 cells examined using both probes. Several questions arise from these data: does the father have velocardiofacial syndrome? Does he have occult mosaicism? Does he have a molecular deletion not detected by the probes used? And was this deletion somehow {open_quotes}amplified{close_quotes} in his daughter?

  10. Trastuzumab-induced recruitment of Csk-homologous kinase (CHK) to ErbB2 receptor is associated with ErbB2-Y1248 phosphorylation and ErbB2 degradation to mediate cell growth inhibition.

    PubMed

    Dokmanovic, Milos; Wu, Yun; Shen, Yi; Chen, Jieqing; Hirsch, Dianne S; Wu, Wen Jin

    2014-08-01

    The inhibitory effect of trastuzumab, a humanized monoclonal antibody directed against the extracellular domain of ErbB2, is associated with its ability to induce ErbB2-Y1248 phosphorylation, and the status of phosphorylated ErbB2-Y1248 (ErbB2-pY1248) may correlate with the sensitivity of breast cancers to trastuzumab. The mechanisms of which remain unclear. Here, we show that binding of trastuzumab to ErbB2 activates ErbB2 kinase activity and enhances ErbB2-Y1248 phosphorylation in trastuzumab-sensitive breast cancer cells. This in turn increases the interaction between ErbB2 and non-receptor Csk-homologous kinase (CHK), leading to growth inhibition of breast cancer cells. Overexpression of CHK mimics trastuzumab treatment to mediate ErbB2-Y1248 phosphorylation, Akt downregulation, and growth inhibition of trastuzumab-sensitive breast cancer cells. CHK overexpression combined with trastuzumab exerts an additive effect on cell growth inhibition. We further demonstrate that positive ErbB2-pY1248 staining in ErbB2-positive breast cancer biopsies correlates with the increased trastuzumab response in trastuzumab neoadjuvant settings. Collectively, this study highlights an important role for ErbB2-pY1248 in mediating trastuzumab-induced growth inhibition and trastuzumab-induced interactions between CHK and ErbB2-pY1248 is identified as a novel mechanism of action that mediates the growth inhibition of breast cancer cells. The novel mechanistic insights into trastuzumab action revealed by this study may impact the design of next generation of therapeutic monoclonal antibodies targeting receptor tyrosine kinases, as well as open new avenues to identify novel targets for the treatment of ErbB2-positive cancers. PMID:24835103

  11. Trastuzumab-induced recruitment of Csk-homologous kinase (CHK) to ErbB2 receptor is associated with ErbB2-Y1248 phosphorylation and ErbB2 degradation to mediate cell growth inhibition

    PubMed Central

    Dokmanovic, Milos; Wu, Yun; Shen, Yi; Chen, Jieqing; Hirsch, Dianne S; Wu, Wen Jin

    2014-01-01

    The inhibitory effect of trastuzumab, a humanized monoclonal antibody directed against the extracellular domain of ErbB2, is associated with its ability to induce ErbB2-Y1248 phosphorylation, and the status of phosphorylated ErbB2-Y1248 (ErbB2-pY1248) may correlate with the sensitivity of breast cancers to trastuzumab. The mechanisms of which remain unclear. Here, we show that binding of trastuzumab to ErbB2 activates ErbB2 kinase activity and enhances ErbB2-Y1248 phosphorylation in trastuzumab-sensitive breast cancer cells. This in turn increases the interaction between ErbB2 and non-receptor Csk-homologous kinase (CHK), leading to growth inhibition of breast cancer cells. Overexpression of CHK mimics trastuzumab treatment to mediate ErbB2-Y1248 phosphorylation, Akt downregulation, and growth inhibition of trastuzumab-sensitive breast cancer cells. CHK overexpression combined with trastuzumab exerts an additive effect on cell growth inhibition. We further demonstrate that positive ErbB2-pY1248 staining in ErbB2-positive breast cancer biopsies correlates with the increased trastuzumab response in trastuzumab neoadjuvant settings. Collectively, this study highlights an important role for ErbB2-pY1248 in mediating trastuzumab-induced growth inhibition and trastuzumab-induced interactions between CHK and ErbB2-pY1248 is identified as a novel mechanism of action that mediates the growth inhibition of breast cancer cells. The novel mechanistic insights into trastuzumab action revealed by this study may impact the design of next generation of therapeutic monoclonal antibodies targeting receptor tyrosine kinases, as well as open new avenues to identify novel targets for the treatment of ErbB2-positive cancers. PMID:24835103

  12. De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation.

    PubMed

    Dutrannoy, Véronique; Klopocki, Eva; Wei, Ran; Bommer, Christiane; Mundlos, Stefan; Graul-Neumann, Luitgard M; Trimborn, Marc

    2009-01-01

    We report on a patient carrying a de novo interstitial deletion of chromosomal region 6q23.2-24.1. Interstitial deletions of 6q are rarely reported in the literature. Indeed, only four patients with interstitial deletions overlapping partially with the deleted region in our patient are described in the literature. The aberration was detected by GTG-banding. The size of the deletion was further refined by array-CGH and subsequently fine mapped by quantitative real-time PCR. The exact size of the deletion and the sequence composition of the breakpoints were determined by breakpoint spanning PCR and subsequent sequencing. The patient presented with microcephaly, short stature, patent ductus arteriosus, sensorineural hearing loss, mental retardation, reduced speech development, and abnormal behaviour. The deletion disrupts the gene EYA4. Mutations within this gene are associated with postlingual sensorineural hearing loss. The sequencing of the breakpoint indicated non homologous end joining as the most likely mechanism leading to the rearrangement. PMID:19576303

  13. In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in wolman disease to chromosome 10q23. 2-q23. 3

    SciTech Connect

    Anderson, R.A.; Rao, N.; Byrum, R.S.; Rothschild, C.B.; Bowden, D.W.; Hayworth, R.; Pettenati, M. )

    1993-01-01

    Human acid lipase/cholesteryl esterase (EC 3.1.1.13) is a 46-kDa glycoprotein required for the lysosomal hydrolysis of cholesteryl esters and triglycerides that cells acquire through the receptor-mediated endocytosis of low-density lipoproteins. This activity is essential in the provision of free cholesterol for cell metabolism as well as for the feedback signal that modulates endogenous cellular cholesterol production. The extremely low level of lysosomal acid lipase in patients afflicted with the hereditary, allelic lysosomal storage disorders Woman disease (WD) and cholesteryl ester storage disease (CESD) (MIM Number 278000 (6)) is associated with the massive intralysosomal lipid storage and derangements in the regulation of cellular cholesterol production (10). Both WD and CESD cells lack a specific acid lipase isoenzyme and it is thought that the different mutations associated with WD and CESD are in the structural gene for this isoenzyme, LIPA. Analysis of the activity of the acid lipase isoenzyme in cell extracts from human-Chinese hamster somatic cell hybrids (4, 11) demonstrated the concordant segregation of the gene locus for lysosomal acid lipase with the glutamate oxaloacetate transaminase-1 (GOT1) enzyme marker for human chromosome 10 which was subsequently localized to 10q24.1 q25.1 (8). 11 refs., 1 figs.

  14. A yeast artificial chromosome contig and NotI restriction map that spans the tumor suppressor gene(s) locus, 11q22.2-q23.3

    SciTech Connect

    Arai, Yasuhito; Hosoda, Fumie; Nakayama, Kyoko; Ohki, Misao

    1996-07-01

    Human chromosome 11q22-q23 is a pathologically important region in which a high level of loss of heterozygosity has been reported for breast, ovary, cervical, colon, and lung carcinomas, malignant melanomas, and hematologic malignancies. This strongly indicates that one or more tumor suppressor genes reside within the deleted region. In this report, we report the development of a contig map that covers most of the deleted regions found in these malignancies. The map comprises a contig of 66 overlapping yeast artificial chromosomes (YACs) and spans a region of 17 Mb from the PGR gene at 11q22.2 to the MLL gene at q23.3. In the process of screening the YACs, 50 new sequence-tagged site markers were developed from the termini of the YAC inserts. These markers were used for chromosome walking, and the data were then integrated into the contig map. NotI sites in the region. Using 22 of them, a NotI restriction map of the region from PGR to D11S939 was developed. This YAC contig will provide efficient tools for identification of the putative tumor suppressor gene(s). 49 refs., 3 figs., 2 tabs.

  15. 1Q/2Q00 M-Area and Metallurgical Laboratory Hazardous Waste Management Facilities Groundwater Monitoring and Corrective-Action Report - First and Second Quarters 2000 - Volumes I, II, and II

    SciTech Connect

    Chase, J.

    2000-10-24

    This report describes the groundwater monitoring and corrective-action program at the M-Area Hazardous Waste Management Facility (HWMF) and the Metallurgical Laboratory (Met Lab) HWMF at the Savannah River site (SRS) during first and second quarters of 2000.

  16. Treatment of facial skin using combinations of CO2, Q-switched alexandrite, and/or flashlamp-pumped dye and/or erbium lasers in the same treatment session

    NASA Astrophysics Data System (ADS)

    Fitzpatrick, Richard E.; Manuskiatti, Woraphong; Goldman, Mitchel P.

    1998-07-01

    Skin aging caused from chronological and photodamage processes results in many alterations in skin appearance. In many circumstances, patients who pursue CO2 laser resurfacing for facial rejuvenation are also concerned with other photoaging alternations that are beyond the efficacy of the CO2 laser. We demonstrated an approach to aged facial skin by using combined treatments of appropriate lasers.

  17. Measurements of the nucleon structure function in the range 0.002 < x < 0.17 and 00.2 < Q2 < 8 GeV2 in deuterium, carbon and calcium

    NASA Astrophysics Data System (ADS)

    European Muon Collaboration; Arneodo, M.; Arvidson, A.; Aubert, J. J.; Badelek, B.; Beaufays, J.; Bee, C. P.; Benchouk, C.; Berghoff, G.; Bird, I. G.; Blum, D.; Böhm, E.; de Bouard, X.; Brasse, F. W.; Braun, H.; Broll, C.; Brown, S. C.; Brück, H.; Calén, H.; Chima, J. S.; Ciborowski, J.; Clifft, R.; Coignet, G.; Combley, F.; Coughlan, J.; d'Agostini, G.; Dahlgren, S.; Derado, I.; Dreyer, T.; Drees, J.; Düren, M.; Eckardt, V.; Edwards, A.; Edwards, M.; Ernst, T.; Eszes, G.; Favier, J.; Ferrero, M. I.; Figiel, J.; Flauger, W.; Foster, J.; Gabathuler, E.; Gajewski, J.; Gamet, R.; Geddes, N.; Grafström, P.; Gustafsson, L.; Haas, J.; Hagberg, E.; Hasert, F. J.; Hayman, P.; Heusse, P.; Jaffre, M.; Jacholkowska, A.; Janata, F.; Jancso, G.; Johnson, A. S.; Kabuss, E. M.; Kellner, G.; Krüger, A.; Krüger, J.; Kullander, S.; Landgraf, U.; Lanske, D.; Loken, J.; Long, K.; Maire, M.; Malecki, P.; Manz, A.; Maselli, S.; Mohr, W.; Montanet, F.; Montgomery, H. E.; Nagy, E.; Nassalski, J.; Norton, P. R.; Oakham, F. G.; Osborne, A. M.; Pascaud, C.; Pawlik, B.; Payre, P.; Peroni, C.; Peschel, H.; Pessard, H.; Pettingale, J.; Pietrzyk, B.; Poensgen, B.; Pötsch, M.; Renton, P.; Ribarics, P.; Rith, K.; Rondio, E.; Sandacz, A.; Scheer, M.; Schlagböhmer, A.; Schiemann, H.; Schmitz, N.; Schneegans, M.; Scholz, M.; Schouten, M.; Schröder, T.; Schultze, K.; Sloan, T.; Stier, H. E.; Studt, M.; Taylor, G. N.; Thenard, J. M.; Thompson, J. C.; de la Torre, A.; Toth, J.; Urban, L.; Urban, L.; Wallucks, W.; Whalley, M.; Wheeler, S.; Williams, W. S. C.; Wimpenny, S. J.; Windmolders, R.; Wolf, G.

    1990-03-01

    Small angle scattering of 280 GeV positive muons by deuterium, carbon and calcium has been measured at scattering angles down to 2 mrad. The nucleon structure function F2 extracted from deuterium does not show a significant x dependence in the measured range of Q2 and its Q2 dependence is linear in logQ2. For calcium, a depletion of F2 is observed at low x by 30% as compared with the values at x = 0.1 where F2(Ca) and F2 (D) are not significantly different. This depletion is attributed to shadowing. The carbon structure function exhibits a similar, but less pronounced, x dependence. Such behaviour is observed to be independent of Q2. The data are consistent with those obtained from other charged lepton experiments both at similar and higher values of x and Q2 and considerably extend the range of the measurements down to the low values of x to be measured in forthcoming experiments at HERA.

  18. Measurement of the Deuteron Spin Structure Function g{sub 1}{sup d}(x) for 1 (GeV/c){sup 2} < Q{sup 2} < 40 (GeV/c){sup 2}

    SciTech Connect

    Perry Anthony; R.G. Arnold; Todd Averett; H.R. Band; M.C. Berisso; H. Borel; Peter Bosted; Stephen Bueltmann; M. Buenerd; T. Chupp; Steve Churchwell; G.R. Court; Donald Crabb; Donal Day; Piotr Decowski; P. DePietro; R. Erbacher; R. Erickson; Andrew Feltham; Helene Fonvieille; Emil Frlez; R. Gearhart; V. Ghazikhanian; Javier Gomez; Keith Griffioen; C. Harris; M.A. Houlden; E.W. Hughes; Charles Hyde-Wright; G. Igo; Sebastien Incerti; John Jensen; J.R. Johnson; Paul King; Yu.G. Kolomensky; Sebastian Kuhn; Richard Lindgren; R.M. Lombard-Nelsen; Jacques Marroncle; James Mccarthy; Paul McKee; W. Meyer; G.S. Mitchell; Joseph Mitchell; Michael Olson; S. Penttila; Gerald Peterson; Gerassimos Petratos; R. Pitthan; Dinko Pocanic; R. Prepost; C. Prescott; Liming Qin; Brian Raue; D. Reyna; L.S. Rochester; Stephen Rock; Oscar Rondon-Aramayo; Franck Sabatie; Ingo Sick; T. Smith; L. Sorrell; F. Staley; S. St. Lorant; L.M. Stuart; Z. Szalata; Y. Terrien; William Tobias; Luminita Todor; T. Toole; S. Trentalange; Dieter Walz; Robert Welsh; Frank Wesselmann; T.R. Wright; C.C. Young; Markus Zeier; Hong Guo Zhu; Benedikt Zihlmann

    1999-09-30

    New measurements are reported on the deuteron spin structure function g{sub 1}{sup d}. These results were obtained from deep inelastic scattering of 48.3 GeV electrons on polarized deuterons in the kinematic range 0.01 < x < 0.9 and 1 < Q{sup 2} < 40 (GeV/c){sup 2}. These are the first high dose electron scattering data obtained using lithium deuteride ({sup 6}Li{sup 2}H) as the target material. Extrapolations of the data were performed to obtain moments of g{sub 1}{sup d}, including {Gamma}{sub 1}{sup d}, and the net quark polarization {Delta} {Sigma}.

  19. Three-region specific microdissection libraries for the long arm of human chromosome 2, regions q33-q35, q31-q32, and q23-q24

    SciTech Connect

    Yu, J.; Tong, S.; Whittier, A.

    1995-09-01

    Three region-specific libraries have been constructed from the long arm of human chromosome 2, including regions 2q33-35 (2Q2 library), 2q31-32 (2Q3) and 2q23-24 (2Q4). Chromosome microdissection and the MboI linker-adaptor microcloning techniques were used in constructing these libraries. The libraries comprised hundreds of thousands of microclones in each library. Approximately half of the microclones in the library contained unique or low-copy number sequence inserts. The insert sizes ranged between 50 and 800 bp, with a mean of 130-190 bp. Southern blot analysis of individual unique sequence microclones showed that 70-94% of the microclones were derived from the dissected region. 31 unique sequence microclones from the 2Q2 library, 31 from 2Q3, and 30 from 2Q4, were analyzed for insert sizes, the hybridizing genomic HindIII fragment sizes, and cross-hybridization to rodent species. These libraries and the short insert microclones derived from the libraries should be useful for high resolution physical mapping, sequence-ready reagents for large scale genomic sequencing, and positional cloning of disease-related genes assigned to these regions, e.g. the recessive familial amyotrophic lateral sclerosis assigned to 2q33-q35, and a type I diabetes susceptibility gene to 2q31-q33. 17 refs., 5 figs., 2 tabs.

  20. Ultrabroadband two-quantum two-dimensional electronic spectroscopy

    NASA Astrophysics Data System (ADS)

    Gellen, Tobias A.; Bizimana, Laurie A.; Carbery, William P.; Breen, Ilana; Turner, Daniel B.

    2016-08-01

    A recent theoretical study proposed that two-quantum (2Q) two-dimensional (2D) electronic spectroscopy should be a background-free probe of post-Hartree-Fock electronic correlations. Testing this theoretical prediction requires an instrument capable of not only detecting multiple transitions among molecular excited states but also distinguishing molecular 2Q signals from nonresonant response. Herein we describe a 2Q 2D spectrometer with a spectral range of 300 nm that is passively phase stable and uses only beamsplitters and mirrors. We developed and implemented a dual-chopping balanced-detection method to resolve the weak molecular 2Q signals. Experiments performed on cresyl violet perchlorate and rhodamine 6G revealed distinct 2Q signals convolved with nonresonant response. Density functional theory computations helped reveal the molecular origin of these signals. The experimental and computational results demonstrate that 2Q electronic spectra can provide a singular probe of highly excited electronic states.

  1. Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome

    ERIC Educational Resources Information Center

    Mazzone, Luigi; Vassena, Lia; Ruta, Liliana; Mugno, Diego; Galesi, Ornella; Fichera, Marco

    2012-01-01

    Brachidactyly-Mental Retardation (BDMR) Syndrome (MIM 600430) is associated with terminal deletions at chromosome 2q37 and a limited number of studies also reported an association between 2q37 [right arrow] qter deletion and autism. Herein we describe two cases of autism in unrelated children with BDMR Syndrome, showing physical, cognitive,…

  2. Delivery of QTIiv2 Question Types

    ERIC Educational Resources Information Center

    Wills, Gary B.; Davis, Hugh C.; Gilbert, Lester; Hare, Jonathon; Howard, Yvonne; Jeyes, Steve; Millard, David; Sherratt, Robert

    2009-01-01

    The IMS Question and Test Interoperability (QTI) standard identifies 16 different question types which may be used in online assessment. While some partial implementations exist, the R2Q2 project has developed a complete solution that renders and responds to all 16 question types as specified. In addition, care has been taken in the R2Q2 project…

  3. Preparation and application of a novel electrochemical sensing material based on surface chemistry of polyhydroquinone.

    PubMed

    Dang, Xueping; Wang, Yingkai; Hu, Chengguo; Huang, Jianlin; Chen, Huaixia; Wang, Shengfu; Hu, Shengshui

    2014-07-01

    A new analogue of polydopamine (PDA), i.e., polyhydroquinone (PH2Q), was polymerized and its surface chemistry was studied by different ways of characterization. PH2Q was produced by the self-polymerization of H2Q mediated by dissolved oxygen, and the self-polymerization process was strongly dependent on the type and the pH value of the buffer solutions. PH2Q can not only achieve surface hydrophilization of different substrates like polyethylene terephthalate (PET) film, graphite strip, C12SH/Au and wax slice, but also possess several unique properties like reversible adsorption, good solubility and low cost. These properties made PH2Q an ideal polymeric modifier for the noncovalent functionalization of some nanomaterials. By simply grinding with PH2Q, pristine multi-walled carbon nanotubes (MWNTs) can be readily dispersed in water with high solubility and good stability. The resulting MWNT-PH2Q composite exhibited excellent electrochemical performance, which was employed for the simultaneous determination of dopamine (DA) and uric acid (UA). PMID:24857459

  4. Cohomology of kleinian groups.

    PubMed

    Kra, I

    1969-07-01

    Let [unk] be a (nonelementary) Kleinian group and q >/= 2 an integer. The group [unk] acts in a natural way on the vector space II(2q-2) of complex polynomials in one variable of degree 2q - 2. One can thus form H(1)([unk],II(2q-2)), the first cohomology group of [unk] with coefficients in II(2q-2). There are essentially two ways of constructing cohomology classes. One construction originated with Eichler and has recently been extended by Ahlfors. Another construction is due to Bers. We show that for finitely generated [unk], every cohomology class pepsilon H(1)([unk],II(2q-2)) can be written uniquely (if one chooses an invariant union of components of [unk]) as a sum of a Bers cohomology class and an Eichler cohomology class. Similar decompositions are obtained for the subgroups of parabolic cohomology classes introduced by Ahlfors. Some information on the structure of H(1)([unk],II(2q-2)) for infinitely generated groups [unk] is also obtained. PMID:16591774

  5. Genome-wide significant risk associations for mucinous ovarian carcinoma

    PubMed Central

    Kelemen, Linda E.; Lawrenson, Kate; Tyrer, Jonathan; Li, Qiyuan; M. Lee, Janet; Seo, Ji-Heui; Phelan, Catherine M.; Beesley, Jonathan; Chen, Xiaoqin; Spindler, Tassja J.; Aben, Katja K.H.; Anton-Culver, Hoda; Antonenkova, Natalia; Baker, Helen; Bandera, Elisa V.; Bean, Yukie; Beckmann, Matthias W.; Bisogna, Maria; Bjorge, Line; Bogdanova, Natalia; Brinton, Louise A.; Brooks-Wilson, Angela; Bruinsma, Fiona; Butzow, Ralf; Campbell, Ian G.; Carty, Karen; Chang-Claude, Jenny; Chen, Y. Ann; Chen, Zhihua; Cook, Linda S.; Cramer, Daniel W.; Cunningham, Julie M.; Cybulski, Cezary; Dansonka-Mieszkowska, Agnieszka; Dennis, Joe; Dicks, Ed; Doherty, Jennifer A.; Dörk, Thilo; du Bois, Andreas; Dürst, Matthias; Eccles, Diana; Easton, Douglas T.; Edwards, Robert P.; Eilber, Ursula; Ekici, Arif B.; Engelholm, Svend Aage; Fasching, Peter A.; Fridley, Brooke L.; Gao, Yu-Tang; Gentry-Maharaj, Aleksandra; Giles, Graham G.; Glasspool, Rosalind; Goode, Ellen L.; Goodman, Marc T.; Grownwald, Jacek; Harrington, Patricia; Harter, Philipp; Hasmad, Hanis Nazihah; Hein, Alexander; Heitz, Florian; Hildebrandt, Michelle A.T.; Hillemanns, Peter; Hogdall, Estrid; Hogdall, Claus; Hosono, Satoyo; Iversen, Edwin S.; Jakubowska, Anna; Jensen, Allan; Ji, Bu-Tian; Karlan, Beth Y; Kellar, Melissa; Kelley, Joseph L.; Kiemeney, Lambertus A.; Krakstad, Camilla; Kjaer, Susanne K.; Kupryjanczyk, Jolanta; Lambrechts, Diether; Lambrechts, Sandrina; Le, Nhu D.; Lee, Alice W.; Lele, Shashi; Leminen, Arto; Lester, Jenny; Levine, Douglas A.; Liang, Dong; Lissowska, Jolanta; Lu, Karen; Lubinski, Jan; Lundvall, Lene; Massuger, Leon F.A.G.; Matsuo, Keitaro; McGuire, Valerie; McLaughlin, John R.; McNeish, Iain; Menon, Usha; Modugno, Francesmary; Moes-Sosnowska, Joanna; Moysich, Kirsten B.; Narod, Steven A.; Nedergaard, Lotte; Ness, Roberta B.; Nevanlinna, Heli; Azmi, Mat Adenan Noor; Odunsi, Kunle; Olson, Sara H.; Orlow, Irene; Orsulic, Sandra; Weber, Rachel Palmieri; Paul, James; Pearce, Celeste Leigh; Pejovic, Tanja; Pelttari, Liisa M.; Permuth-Wey, Jennifer; Pike, Malcolm C.; Poole, Elizabeth M.; Ramus, Susan J.; Risch, Harvey A.; Rosen, Barry; Rossing, Mary Anne; Rothstein, Joseph H.; Rudolph, Anja; Runnebaum, Ingo B.; Rzepecka, Iwona K.; Salvesen, Helga B.; Schildkraut, Joellen M.; Schwaab, Ira; Shu, Xiao-Ou; Shvetsov, Yurii B; Siddiqui, Nadeem; Sieh, Weiva; Song, Honglin; Southey, Melissa C.; Sucheston, Lara; Tangen, Ingvild L.; Teo, Soo-Hwang; Terry, Kathryn L.; Thompson, Pamela J; Tworoger, Shelley S.; van Altena, Anne M.; Van Nieuwenhuysen, Els; Vergote, Ignace; Vierkant, Robert A.; Wang-Gohrke, Shan; Walsh, Christine; Wentzensen, Nicolas; Whittemore, Alice S.; Wicklund, Kristine G.; Wilkens, Lynne R.; Wlodzimierz, Sawicki; Woo, Yin-Ling; Wu, Xifeng; Wu, Anna H.; Yang, Hannah; Zheng, Wei; Ziogas, Argyrios; Sellers, Thomas A.; Freedman, Matthew L.; Chenevix-Trench, Georgia; Pharoah, Paul D.; Gayther, Simon A.; Berchuck, Andrew

    2015-01-01

    Genome-wide association studies have identified several risk associations for ovarian carcinomas (OC) but not for mucinous ovarian carcinomas (MOC). Genotypes from OC cases and controls were imputed into the 1000 Genomes Project reference panel. Analysis of 1,644 MOC cases and 21,693 controls identified three novel risk associations: rs752590 at 2q13 (P = 3.3 × 10−8), rs711830 at 2q31.1 (P = 7.5 × 10−12) and rs688187 at 19q13.2 (P = 6.8 × 10−13). Expression Quantitative Trait Locus (eQTL) analysis in ovarian and colorectal tumors (which are histologically similar to MOC) identified significant eQTL associations for HOXD9 at 2q31.1 in ovarian (P = 4.95 × 10−4, FDR = 0.003) and colorectal (P = 0.01, FDR = 0.09) tumors, and for PAX8 at 2q13 in colorectal tumors (P = 0.03, FDR = 0.09). Chromosome conformation capture analysis identified interactions between the HOXD9 promoter and risk SNPs at 2q31.1. Overexpressing HOXD9 in MOC cells augmented the neoplastic phenotype. These findings provide the first evidence for MOC susceptibility variants and insights into the underlying biology of the disease. PMID:26075790

  6. Genome-wide significant risk associations for mucinous ovarian carcinoma.

    PubMed

    Kelemen, Linda E; Lawrenson, Kate; Tyrer, Jonathan; Li, Qiyuan; Lee, Janet M; Seo, Ji-Heui; Phelan, Catherine M; Beesley, Jonathan; Chen, Xiaoqing; Spindler, Tassja J; Aben, Katja K H; Anton-Culver, Hoda; Antonenkova, Natalia

    2015-08-01

    Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs752590 at 2q13 (P = 3.3 × 10(-8)), rs711830 at 2q31.1 (P = 7.5 × 10(-12)) and rs688187 at 19q13.2 (P = 6.8 × 10(-13)). We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31.1 in ovarian (P = 4.95 × 10(-4), false discovery rate (FDR) = 0.003) and colorectal (P = 0.01, FDR = 0.09) tumors and for PAX8 at 2q13 in colorectal tumors (P = 0.03, FDR = 0.09). Chromosome conformation capture analysis identified interactions between the HOXD9 promoter and risk-associated SNPs at 2q31.1. Overexpressing HOXD9 in MOC cells augmented the neoplastic phenotype. These findings provide the first evidence for MOC susceptibility variants and insights into the underlying biology of the disease. PMID:26075790

  7. Query2Question: Translating Visualization Interaction into Natural Language.

    PubMed

    Nafari, Maryam; Weaver, Chris

    2015-06-01

    Richly interactive visualization tools are increasingly popular for data exploration and analysis in a wide variety of domains. Existing systems and techniques for recording provenance of interaction focus either on comprehensive automated recording of low-level interaction events or on idiosyncratic manual transcription of high-level analysis activities. In this paper, we present the architecture and translation design of a query-to-question (Q2Q) system that automatically records user interactions and presents them semantically using natural language (written English). Q2Q takes advantage of domain knowledge and uses natural language generation (NLG) techniques to translate and transcribe a progression of interactive visualization states into a visual log of styled text that complements and effectively extends the functionality of visualization tools. We present Q2Q as a means to support a cross-examination process in which questions rather than interactions are the focus of analytic reasoning and action. We describe the architecture and implementation of the Q2Q system, discuss key design factors and variations that effect question generation, and present several visualizations that incorporate Q2Q for analysis in a variety of knowledge domains. PMID:26357239

  8. Statistical mechanics of nonlinear wave equations. 3. Metric transitivity for hyperbolic sine-gordon

    NASA Astrophysics Data System (ADS)

    McKean, H. P.

    1995-05-01

    McKean and Vaninsky proved that the canonical measure e - H d ∞ Q d ∞ P based upon the HamiltonianH = int [tfrac{1}{2}P^2 + tfrac{1}{2}(Q')^2 + F(Q)]dx of the wave equation ∂2 Q/∂ t 2 - ∂2 Q/∂ x 2 + f( Q) = 0 with restoring force f(Q)=F'(Q) is preserved by the associated flow of Q and P = Q ṡ, and they conjectured that metric transitivity prevails, always on the whole line, and likewise on the circle unless f(Q)=Q or f(Q)=sh Q. Here, the metric transitivity is proved for the whole line in the second case. The proof employs the beautiful "d'Alembert formula" of Krichever.

  9. Duplex quantitative real-time PCR assay for the detection and discrimination of the eggs of Toxocara canis and Toxocara cati (Nematoda, Ascaridoidea) in soil and fecal samples

    PubMed Central

    2012-01-01

    Background Toxocarosis is a zoonotic disease caused by Toxocara canis (T. canis) and/or Toxocara cati (T. cati), two worldwide distributed roundworms which are parasites of canids and felids, respectively. Infections of humans occur through ingestion of embryonated eggs of T. canis or T. cati, when playing with soils contaminated with dogs or cats feces. Accordingly, the assessment of potential contamination of these areas with these roundworms eggs is paramount. Methods A duplex quantitative real-time PCR (2qPCR) targeting the ribosomal RNA gene internal transcribed spacer (ITS2) has been developed and used for rapid and specific identification of T. canis and T. cati eggs in fecal and soil samples. The assay was set up on DNA samples extracted from 53 adult worms including T. canis, T. cati, T. leonina, Ascaris suum (A. suum) and Parascaris equorum (P. equorum). The assay was used to assess the presence of T. cati eggs in several samples, including 12 clean soil samples spiked with eggs of either T. cati or A. suum, 10 actual soil samples randomly collected from playgrounds in Brussels, and fecal samples from cats, dogs, and other animals. 2qPCR results on dogs and cats fecal samples were compared with results from microscopic examination. Results 2qPCR assay allowed specific detection of T. canis and T. cati, whether adult worms, eggs spiked in soil or fecal samples. The 2qPCR limit of detection (LOD) in spiked soil samples was 2 eggs per g of soil for a turnaround time of 3 hours. A perfect concordance was observed between 2qPCR assay and microscopic examination on dogs and cats feces. Conclusion The newly developed 2qPCR assay can be useful for high throughput prospective or retrospective detection of T.canis and/or T. cati eggs in fecal samples as well as in soil samples from playgrounds, parks and sandpits. PMID:23216873

  10. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

    PubMed Central

    Williams, Stephen R; Mullegama, Sureni V; Rosenfeld, Jill A; Dagli, Aditi I; Hatchwell, Eli; Allen, William P; Williams, Charles A; Elsea, Sarah H

    2010-01-01

    Microdeletion of chromosome 2q23.1 results in a novel syndrome previously reported in five individuals. Many of the del(2)(q23.1) cases were thought to have other syndromes such as Angelman, Prader–Willi, or Smith–Magenis because of certain overlapping clinical features. We report two new cases of the 2q23.1 microdeletion syndrome, describe the syndrome phenotype, define the minimal critical region, and analyze the expression of critical region genes toward identification of the causative gene(s) for the disorder. Individuals with del(2)(q23.1) have severe developmental and cognitive delays, minimal speech, seizures, microcephaly, mild craniofacial dysmorphism, behavioral disorders, and short stature. The deletions encompassing 2q23.1 range from >4 Mb to <200 kb, as identified by oligonucleotide and BAC whole-genome array comparative hybridization. The minimal critical region includes a single gene, MBD5, deleted in all cases, whereas all but one case also include deletion of EPC2. Quantitative real-time PCR of patient lymphoblasts/lymphocytes showed an ∼50% reduced expression of MBD5 and EPC2 compared with controls. With similar phenotypes among the 2q23.1 deletion patients, the idea of one or more common genes causing the pathological defect seen in these patients becomes evident. As all five previous cases and the two cases in this report share one common gene, MBD5, we strongly suspect that haploinsufficiency of MBD5 causes most of the features observed in this syndrome. PMID:19904302

  11. Nakamurella endophytica sp. nov., a novel endophytic actinobacterium isolated from the bark of Kandelia candel.

    PubMed

    Tuo, Li; Li, Fei-Na; Pan, Zhen; Lou, Inchio; Guo, Min; Ming-Yuen Lee, Simon; Chen, Li; Hu, Lin; Sun, Cheng-Hang

    2016-03-01

    A Gram-stain-positive, aerobic, coccus-shaped, non-spore-forming actinobacterium, designated strain 2Q3S-4-2T, was isolated from the surface-sterilized bark of Kandelia candel, collected from Cotai Ecological Zones in Macao, PR China. It was tested using a polyphasic approach to determine its taxonomic position. Strain 2Q3S-4-2T grew optimally without NaCl at 28-30 °C and at pH 7.0. Substrate mycelia and aerial mycelia were not formed and no diffusible pigments were observed on the media tested. Phylogenetic analysis, based on 16S rRNA gene sequences, suggested that strain 2Q3S-4-2T belonged to the genus Nakamurella, sharing highest 16S rRNA gene sequence similarity with Nakamurella flavida DS-52T (96.76 %). The DNA G+C content of strain 2Q3S-4-2T was 67.8 mol%. The cell-wall peptidoglycan contained meso-diaminopimelic acid and MK-8(H4) was the predominant menaquinone. The predominant polar lipids were diphosphatidylglycerol, phosphatidylethanolamine, unidentified aminophospholipids and phosphatidylinositol. The major fatty acids were iso-C16 : 0, anteiso-C15 : 0, anteiso-C17 : 0 and C16 : 0. On the basis of the phylogenetic, phenotypic and chemotaxonomic analysis, strain 2Q3S-4-2T represents a novel species of the genus Nakamurella, for which the name Nakamurella endophytica sp. nov. is proposed. The type strain is 2Q3S-4-2T ( = DSM 100722T = CGMCC 4.7308T). PMID:26813967

  12. The Diophantine equation 8(x) + p(y) = z(2).

    PubMed

    Qi, Lan; Li, Xiaoxue

    2015-01-01

    Let p be a fixed odd prime. Using certain results of exponential Diophantine equations, we prove that (i) if p ≡ ± 3(mod  8), then the equation 8 (x) + p (y) = z (2) has no positive integer solutions (x, y, z); (ii) if p ≡ 7(mod  8), then the equation has only the solutions (p, x, y, z) = (2 (q) - 1, (1/3)(q + 2), 2, 2 (q) + 1), where q is an odd prime with q ≡ 1(mod  3); (iii) if p ≡ 1(mod  8) and p ≠ 17, then the equation has at most two positive integer solutions (x, y, z). PMID:25654128

  13. 49 CFR 173.301 - General requirements for shipment of compressed gases and other hazardous materials in cylinders...

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ..., see the List of CFR Sections Affected, which appears in the Finding Aids section of the printed volume... follows: Packagings 2P 2Q ICC-31 3A 3AA 3AL 3AX 3A480X 3AAX 3B 3BN 3E 3HT 3T 4AA480 4B 4B240ET 4BA 4BW 4D...) Specification 2P, 2Q, 3E, 3HT, spherical 4BA, 4D, 4DA, 4DS, and 39 cylinders must be packed in strong...

  14. Gene expression profiling of R6/2 transgenic mice with different CAG repeat lengths reveals genes associated with disease onset and progression in Huntington's disease.

    PubMed

    Tang, Bin; Seredenina, Tamara; Coppola, Giovanni; Kuhn, Alexandre; Geschwind, Daniel H; Luthi-Carter, Ruth; Thomas, Elizabeth A

    2011-06-01

    R6/2 transgenic mice with expanded CAG repeats (>300) have a surprisingly prolonged disease progression and longer lifespan than prototypical parent R6/2 mice (carrying 150 CAGs); however, the mechanism of this phenotype amelioration is unknown. We compared gene expression profiles in the striatum of R6/2 transgenic mice carrying ~300 CAG repeats (R6/2(Q300) transgenic mice) to those carrying ~150 CAG repeats (R6/2(Q150) transgenic mice) and littermate wildtype controls in order to identify genes that may play determinant roles in the time course of phenotypic expression in these mice. Of the top genes showing concordant expression changes in the striatum of both R6/2 lines, 85% were decreased in expression, while discordant expression changes were observed mostly for genes upregulated in R6/2(Q300) transgenic mice. Upregulated genes in the R6/2(Q300) mice were associated with the ubiquitin ligase complex, cell adhesion, protein folding, and establishment of protein localization. We qPCR-validated increases in expression of genes related to the latter category, including Lrsam1, Erp29, Nasp, Tap1, Rab9b, and Pfdn5 in R6/2(Q300) mice, changes that were not observed in R6/2 mice with shorter CAG repeats, even in late stages (i.e., 12 weeks of age). We further tested Lrsam1 and Erp29, the two genes showing the greatest upregulation in R6/2(Q300) transgenic mice, for potential neuroprotective effects in primary striatal cultures overexpressing a mutated human huntingtin (htt) fragment. Overexpression of Lrsam1 prevented the loss of NeuN-positive cell bodies in htt171-82Q cultures, concomitant with a reduction of nuclear htt aggregates. Erp29 showed no significant effects in this model. This is consistent with the distinct pattern of htt inclusion localization observed in R6/2(Q300) transgenic mice, in which smaller cytoplasmic inclusions represent the major form of insoluble htt in the cell, as opposed to large nuclear inclusions observed in R6/2(Q150) transgenic mice

  15. Bäcklund transformations, soliton solutions and wave functions of Kaup-Newell and Wadati-Konno-Ichikawa systems

    NASA Astrophysics Data System (ADS)

    Rangwala, Abbas A.; Rao, Jyoti A.

    1990-05-01

    Using the Bargmann-Darboux method, the Bäcklund transformations, n-soliton solutions and corresponding wave functions of the Kaup-Newell and Wadati-Konno-Ichikawa systems are obtained. These results culminate in an algebraic recursive procedure for the determination of multisoliton solutions and their wave functions of the derivative and mixed derivative nonlinear Schrödinger equations iQt+Qxx∓iα(||Q||2Q)x ±β||Q||2Q=0, α>0, β≥0.

  16. Acclimation to temperature and irradiance modulates PSII charge recombination.

    PubMed

    Ivanov, A G; Sane, P V; Krol, M; Gray, G R; Balseris, A; Savitch, L V; Oquist, G; Hüner, N P A

    2006-05-15

    Acclimation of wild type and the chlorina F2 mutant of barley to either high light or low temperature results in a 2- to 3-fold increase in non-photochemical quenching which occurred independently of either energy-dependent quenching (qE), xanthophyll cycle-mediated antenna quenching or state transitions. Results of in vivo thermoluminescence measurements used to address this conundrum indicated that excitation pressure regulates the temperature gap for S(2)Q(B)(-) and S(2)Q(A)(-) charge recombinations within photosystem II reaction centers. This is discussed in terms of photoprotection through non-radiative charge recombination. PMID:16674953

  17. 26 CFR 1.509(a)-5 - Special rules of attribution.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... described in subparagraph (1) of this paragraph. Example 2. Q is a local medical research organization... medical research of interest to Q. It receives support through small government grants and a few research... organization seeking section 509(a)(3) status, for the purpose of carrying on research and study projects...

  18. Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption.

    PubMed

    Canalis, Ernesto; Schilling, Lauren; Yee, Siu-Pok; Lee, Sun-Kyeong; Zanotti, Stefano

    2016-01-22

    Notch receptors are determinants of cell fate and function and play a central role in skeletal development and bone remodeling. Hajdu Cheney syndrome, a disease characterized by osteoporosis and fractures, is associated with NOTCH2 mutations resulting in a truncated stable protein and gain-of-function. We created a mouse model reproducing the Hajdu Cheney syndrome by introducing a 6955C→T mutation in the Notch2 locus leading to a Q2319X change at the amino acid level. Notch2(Q2319X) heterozygous mutants were smaller and had shorter femurs than controls; and at 1 month of age they exhibited cancellous and cortical bone osteopenia. As the mice matured, cancellous bone volume was restored partially in male but not female mice, whereas cortical osteopenia persisted in both sexes. Cancellous bone histomorphometry revealed an increased number of osteoclasts and bone resorption, without a decrease in osteoblast number or bone formation. Osteoblast differentiation and function were not affected in Notch2(Q2319X) cells. The pre-osteoclast cell pool, osteoclast differentiation, and bone resorption in response to receptor activator of nuclear factor κB ligand in vitro were increased in Notch2(Q2319X) mutants. These effects were suppressed by the γ-secretase inhibitor LY450139. In conclusion, Notch2(Q2319X) mice exhibit cancellous and cortical bone osteopenia, enhanced osteoclastogenesis, and increased bone resorption. PMID:26627824

  19. Gender-Based Violence Prevention. Issues in Prevention

    ERIC Educational Resources Information Center

    Higher Education Center for Alcohol, Drug Abuse, and Violence Prevention, 2012

    2012-01-01

    This issue of "Issues in Prevention" focuses on gender-based violence prevention. This issue contains the following articles: (1) Preventing Gender-Based Violence: An Overview (Linda Langford); (2) Q&A With Amelia Cobb; (3) Denim Day at HBCUs; (4) Dear Colleague Letter; (5) ED Grants for Violence Prevention; and (6) Higher Education Center…

  20. 42 CFR 414.1001 - Basis of payment.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... a pharmacy for the first prescription of drugs and biologicals described in sections 1861(s)(2)(J), 1861(s)(2)(Q), and 1861(s)(2)(T) of the Act, that the pharmacy provided to a beneficiary during a 30-day period. (2) A supplying fee of $16 is paid to a pharmacy for each prescription following the...

  1. 42 CFR 414.1001 - Basis of payment.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... a pharmacy for the first prescription of drugs and biologicals described in sections 1861(s)(2)(J), 1861(s)(2)(Q), and 1861(s)(2)(T) of the Act, that the pharmacy provided to a beneficiary during a 30-day period. (2) A supplying fee of $16 is paid to a pharmacy for each prescription following the...

  2. Impaired mTORC1-Dependent Expression of Homer-3 Influences SCA1 Pathophysiology.

    PubMed

    Ruegsegger, Céline; Stucki, David M; Steiner, Silvio; Angliker, Nico; Radecke, Julika; Keller, Eva; Zuber, Benoît; Rüegg, Markus A; Saxena, Smita

    2016-01-01

    Spinocerebellar ataxia type 1 (SCA1), due to the expansion of a polyglutamine repeat within the ubiquitously expressed Ataxin-1 protein, leads to the premature degeneration of Purkinje cells (PCs), the cause of which is poorly understood. Here, we identified the unique proteomic signature of Sca1(154Q/2Q) PCs at an early stage of disease, highlighting extensive alterations in proteins associated with synaptic functioning, maintenance, and transmission. Focusing on Homer-3, a PC-enriched scaffold protein regulating neuronal activity, revealed an early decline in its expression. Impaired climbing fiber-mediated synaptic transmission diminished mTORC1 signaling, paralleling Homer-3 reduction in Sca1(154Q/2Q) PCs. Ablating mTORC1 within PCs or pharmacological inhibition of mTORC1 identified Homer-3 as its downstream target. mTORC1 knockout in Sca1(154Q/2Q) PCs exacerbated and accelerated pathology. Reinstating Homer-3 expression in Sca1(154Q/2Q) PCs attenuated cellular dysfunctions and improved motor deficits. Our work reveals that impaired mTORC1-Homer-3 activity underlies PC susceptibility in SCA1 and presents a promising therapeutic target. PMID:26748090

  3. Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium

    PubMed Central

    Farrer, Lindsay A.; Grundfast, Kenneth M.; Amos, Jean; Arnos, Kathleen S.; Asher, James H.; Beighton, Peter; Diehl, Scott R.; Fex, Jörgen; Foy, Carole; Friedman, Thomas B.; Greenberg, Jacquie; Hoth, Christopher; Marazita, Mary; Milunsky, Aubrey; Morell, Robert; Nance, Walter; Newton, Valerie; Ramesar, Rajkumar; Agustin, Theresa B. San; Skare, James; Stevens, Cathy A.; Wagner, Ronald G.; Wilcox, Edward R.; Winship, Ingrid; Read, Andrew P.

    1992-01-01

    Previous studies have localized the gene for Waardenburg syndrome (WS) type I to the distal portion of chromosome 2q, near the ALPP locus. We pooled linkage data obtained from 41 WS type I and 3 WS type II families which were typed for six polymorphic loci on chromosome 2q in order to refine the location of the WS locus (WS1) and evaluate the extent of genetic heterogeneity. In the course of this work, we developed diagnostic criteria for genetic and phenotypic studies. Our findings, based on two-locus and multilocus analysis using a linkage map established from reference pedigrees, suggest that there are two or more mutations causing WS, one of which (i.e., WS1) is located on chromosome 2q, between the ALPP and FN1 loci, at distances of 7.8 cM and 11.2 cM for each marker, respectively. The results also indicate that WS1 is responsible for the illness in approximately 45% of all families in this sample. However, the odds favoring this position over a location between ALPP and SAG are only 2:1 when alternate assumptions about the proportion of linked families are considered. We conclude that a more saturated map of this region of chromosome 2q, including highly polymorphic markers, will be needed to accurately distinguish linked families and, ultimately, isolate the mutant gene. PMID:1349198

  4. Disruption of Diacylglycerol Kinase Delta (DGKD) Associated with Seizures in Humans and Mice

    PubMed Central

    Leach, Natalia T.; Sun, Yi; Michaud, Sebastien; Zheng, Yi; Ligon, Keith L.; Ligon, Azra H.; Sander, Thomas; Korf, Bruce R.; Lu, Weining; Harris, David J.; Gusella, James F.; Maas, Richard L.; Quade, Bradley J.; Cole, Andrew J.; Kelz, Max B.; Morton, Cynthia C.

    2007-01-01

    We report a female patient with a de novo balanced translocation, 46,X,t(X;2)(p11.2;q37)dn, who exhibits seizures, capillary abnormality, developmental delay, infantile hypotonia, and obesity. The 2q37 breakpoint observed in association with the seizure phenotype is of particular interest, because it lies near loci implicated in epilepsy in humans and mice. Fluorescence in situ hybridization mapping of the translocation breakpoints showed that no known genes are disrupted at Xp11.2, whereas diacylglycerol kinase delta (DGKD) is disrupted at 2q37. Expression studies in Drosophila and mouse suggest that DGKD is involved in central nervous system development and function. Electroencephalographic assessment of Dgkd mutant mice revealed abnormal epileptic discharges and electrographic seizures in three of six homozygotes. These findings implicate DGKD disruption by the t(X;2)(p11.2;q37)dn in the observed phenotype and support a more general role for DGKD in the etiology of seizures. PMID:17357084

  5. A twin sibling with Prader-Willi syndrome caused by type 2 microdeletion following assisted reproductive technology: A case report

    PubMed Central

    HAN, JI YOON; PARK, JOONHONG; JANG, WOORI; CHAE, HYOJIN; KIM, MYUNGSHIN; KIM, YONGGOO

    2016-01-01

    Prader-Willi syndrome (PWS) is a neurobehavioral imprinting disorder, which arises due to an absence of paternally expressed genes within the 15q11.2-q13 region. This occurs via one of the three main genetic mechanisms, as follows: Deletion of the paternally inherited 15q11.2-q13 region, maternal uniparental disomy and imprinting defect. Recent studies have reported an association between imprinting disorders and assisted reproductive technologies (ART). The current study presents a 6-year-old female patient who is a dizygotic twin, in which one was born with de novo microdeletion at 15q11.2-q13.1 following in vitro fertilization. The patient had characteristic facial features including narrow bifrontal diameter, strabismus, downturned mouth, feeding problems and generalized hypotonia during infancy, developmental delay, mental retardation and rapid weight gain. Based upon phenotypic resemblance and the medical records, methylation-specific multiplex ligation-dependent probe amplification and array-based comparative genome hybridization analyses demonstrate type 2 microdeletion between breaking point 2 (BP2) and BP3, which occur from MKRN3 through HERC2 at 15q11.2-q13.1. To the best of our knowledge, the present study is the first to report a PWS case born following ART reported in South Korea. In addition to previous studies, the present study contributes to the consensus regarding genotype-phenotype comparisons in this respect. PMID:27330749

  6. 26 CFR 1.509(a)-5 - Special rules of attribution.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... organization seeking section 509(a)(3) status, for the purpose of carrying on research and study projects of... described in subparagraph (1) of this paragraph. Example 2. Q is a local medical research organization described in section 509(a)(2). Its fixed assets are negligible and it carries on research activities on...

  7. Community Colleges--Prevention Challenges. Issues in Prevention

    ERIC Educational Resources Information Center

    Higher Education Center for Alcohol, Drug Abuse, and Violence Prevention, 2012

    2012-01-01

    This issue of "Issues in Prevention" focuses on prevention challenges facing community colleges. This issue contains the following articles: (1) Prevention at Community Colleges; (2) Q&A With William Auvenshine; (3) Chancellor's Initiative at the University of Wisconsin-Stout; (4) Alcohol Marketing in the Digital Age; and (5) Higher Education…

  8. Chromosome region-specific libraries for human genome analysis. Final progress report, 1 March 1991--28 February 1994

    SciTech Connect

    Kao, F.T.

    1994-04-01

    The objectives of this grant proposal include (1) development of a chromosome microdissection and PCR-mediated microcloning technology, (2) application of this microtechnology to the construction of region-specific libraries for human genome analysis. During this grant period, the authors have successfully developed this microtechnology and have applied it to the construction of microdissection libraries for the following chromosome regions: a whole chromosome 21 (21E), 2 region-specific libraries for the long arm of chromosome 2, 2q35-q37 (2Q1) and 2q33-q35 (2Q2), and 4 region-specific libraries for the entire short arm of chromosome 2, 2p23-p25 (2P1), 2p21-p23 (2P2), 2p14-p16 (wP3) and 2p11-p13 (2P4). In addition, 20--40 unique sequence microclones have been isolated and characterized for genomic studies. These region-specific libraries and the single-copy microclones from the library have been used as valuable resources for (1) isolating microsatellite probes in linkage analysis to further refine the disease locus; (2) isolating corresponding clones with large inserts, e.g. YAC, BAC, P1, cosmid and phage, to facilitate construction of contigs for high resolution physical mapping; and (3) isolating region-specific cDNA clones for use as candidate genes. These libraries are being deposited in the American Type Culture Collection (ATCC) for general distribution.

  9. 42 CFR 414.1001 - Basis of payment.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... is paid to a pharmacy for the first prescription of drugs and biologicals described in sections 1861(s)(2)(J), 1861(s)(2)(Q), and 1861(s)(2)(T) of the Act, that the pharmacy provided to a beneficiary during a 30-day period. (2) A supplying fee of $16 is paid to a pharmacy for each prescription...

  10. REAL-TIME MEASUREMENT OF AIRWAY RESPONSES TO SULOFUR DIOXIDE (SO2) IN AN INTACT, AWAKE GUINEA PIG MODEL

    EPA Science Inventory

    Real-time measurment of airway responses to Sulfur Dioxide (SO2) in an intact, awake guinea pig model. J Stanek1,2, Q Krantz2, J Nolan2, D Winsett2, W Watkinson2, and D Costa2. 1College of Veterinary Medicine, NCSU, Raleigh, NC, USA; 2Pulmonary Toxicology Branch, ETD, NHEERL, US...

  11. APPLICATION OF A TIERED SURROGATE APPROACH TO IDENTIFY TOXICITY SURROGATES FOR HUMAN HEALTH RISK ASSESSMENT

    EPA Science Inventory

    APPLICATION OF A TIERED SURROGATE APPROACH TO IDENTIFY TOXICITY SURROGATES FOR HUMAN HEALTH RISK ASSESSMENT. P.R. Dodmane1, L.E. Lizarraga1, J.P. Kaiser2, S.C. Wesselkamper2, Q.J. Zhao2. 1ORISE Participant, U.S. EPA, National Center for Environmental Assessment (NCEA), Cincinnati...

  12. Drug Abuse on College Campuses: Emerging Issues. Issues in Prevention

    ERIC Educational Resources Information Center

    Higher Education Center for Alcohol, Drug Abuse, and Violence Prevention, 2012

    2012-01-01

    This "Issues in Prevention" focuses on emerging issues concerning drug abuse on college campuses. This issue contains the following articles: (1) Drug Abuse Trends; (2) Q&A With Jim Lange; (3) Bath Salts; (4) Refuse to Abuse; (5) Related Federal Resource; and (6) Higher Education Center Resources.

  13. 29 CFR 2509.75-8 - Questions and answers relating to fiduciary responsibility under the Employee Retirement Income...

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... fiduciary responsibility under the Act, thereby supplementing ERISA IB 75-5 (29 CFR 2555.75-5) which was...). The Internal Revenue Service has indicated its concurrence with the answers to these questions. D-2 Q... fiduciaries within the meaning of section 4975(e)(3) of the Internal Revenue Code of 1954. D-3 Q: Does...

  14. The Learning Principal[R]. Volume 4, Number 8

    ERIC Educational Resources Information Center

    von Frank, Valerie, Ed.

    2009-01-01

    "The Learning Principal" is an eight-page newsletter published eight times a year. It focuses on the important and unique work of school principals. This issue includes: (1) Efficacy Can Overcome Classroom Barriers (Valerie von Frank); (2) Q & A: Leadership, Learning Communities Change School Culture (Valerie von Frank); (3) Focus on NSDC's…

  15. The Learning Principal[R]. Volume 5, Number 2

    ERIC Educational Resources Information Center

    Crow, Tracy, Ed.

    2009-01-01

    "The Learning Principal" is an eight-page newsletter published eight times a year. It focuses on the important and unique work of school principals. This issue includes: (1) Data Analysis Is a Courageous Look in the Mirror (Valerie von Frank); (2) Q&A: Opening Doors, Opening Minds (Valerie von Frank); (3) Focus on NSDC's [National Staff…

  16. The Learning Principal[R]. Volume 5, Number 1

    ERIC Educational Resources Information Center

    von Frank, Valerie, Ed.

    2009-01-01

    "The Learning Principal" is an eight-page newsletter published eight times a year. It focuses on the important and unique work of school principals. This issue includes: (1) Framework "for" Improvement: Effective School Leadership Translates into Increased Student Learning (Valerie von Frank); (2) Q & A: Instructional Leader Creates Culture of…

  17. 16 CFR 1500.82 - Exemption from full labeling and other requirements.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ..., may submit to the Commission a request for exemption under section 3(c) of the act, presenting facts... in the Federal Register. (c) Any person who believes a particular article should be exempted from... directions and warnings, may submit to the Commission a request for exemption under section 2(q)(1)(B)(i)...

  18. 16 CFR 1500.82 - Exemption from full labeling and other requirements.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ..., may submit to the Commission a request for exemption under section 3(c) of the act, presenting facts... in the Federal Register. (c) Any person who believes a particular article should be exempted from... directions and warnings, may submit to the Commission a request for exemption under section 2(q)(1)(B)(i)...

  19. 16 CFR 1500.82 - Exemption from full labeling and other requirements.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ..., may submit to the Commission a request for exemption under section 3(c) of the act, presenting facts... in the Federal Register. (c) Any person who believes a particular article should be exempted from... directions and warnings, may submit to the Commission a request for exemption under section 2(q)(1)(B)(i)...

  20. Comparison of gull-specific assays targeting 16S rRNA gene of Catellicoccus marimammalium and Streptococcus spp.

    EPA Science Inventory

    Gulls have been implicated as a source of fecal contamination in inland and coastal waters. Only one gull-specific assay is currently available (i.e., gull2 qPCR assay). This assay is based on the 16S rRNA gene of Catellicocclls marimammalium and has showed a high level of host-s...

  1. Validation of linkage between BCWD resistance and spleen size QTL on Omy19 in rainbow trout: Pleiotropy versus linkage

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Bacterial cold water disease (BCWD) is caused by infection with Flavobacterium psychrophilum, and results in significant economic losses in salmonid aquaculture. Previously, we identified a major QTL for BCWD resistance on Omy19 (h2q=0.57-0.67) as well as a QTL for surrogate measures of disease resi...

  2. Abnormalities in synaptic dynamics during development in a mouse model of spinocerebellar ataxia type 1

    PubMed Central

    Hatanaka, Yusuke; Watase, Kei; Wada, Keiji; Nagai, Yoshitaka

    2015-01-01

    Late-onset neurodegenerative diseases are characterized by neurological symptoms and progressive neuronal death. Accumulating evidence suggests that neuronal dysfunction, rather than neuronal death, causes the symptoms of neurodegenerative diseases. However, the mechanisms underlying the dysfunction that occurs prior to cell death remain unclear. To investigate the synaptic basis of this dysfunction, we employed in vivo two-photon imaging to analyse excitatory postsynaptic dendritic protrusions. We used Sca1154Q/2Q mice, an established knock-in mouse model of the polyglutamine disease spinocerebellar ataxia type 1 (SCA1), which replicates human SCA1 features including ataxia, cognitive impairment, and neuronal death. We found that Sca1154Q/2Q mice exhibited greater synaptic instability than controls, without synaptic loss, in the cerebral cortex, where obvious neuronal death is not observed, even before the onset of distinct symptoms. Interestingly, this abnormal synaptic instability was evident in Sca1154Q/2Q mice from the synaptic developmental stage, and persisted into adulthood. Expression of synaptic scaffolding proteins was also lower in Sca1154Q/2Q mice than controls before synaptic maturation. As symptoms progressed, synaptic loss became evident. These results indicate that aberrant synaptic instability, accompanied by decreased expression of scaffolding proteins during synaptic development, is a very early pathology that precedes distinct neurological symptoms and neuronal cell death in SCA1. PMID:26531852

  3. "Give Me a Name for What's Wrong with Him": A Case Study of a Rare Chromosome Disorder

    ERIC Educational Resources Information Center

    Gilmore, Linda; Campbell, Marilyn

    2006-01-01

    The case is presented of a young boy with a rare chromosome disorder involving an interstitial deletion on chromosome 16 (16q11.2q13). Background information on chromosome disorders is presented along with a review of previous findings about the developmental consequences of chromosome 16q deletions. The case description illustrates the…

  4. 49 CFR 178.33a-9 - Marking.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... Transportation Other Regulations Relating to Transportation (Continued) PIPELINE AND HAZARDOUS MATERIALS SAFETY..., each container must be marked to show: (1) DOT-2Q. (2) Name or symbol of person making the mark specified in paragraph (a)(1) of this section. Symbol, if used, must be registered with the...

  5. 49 CFR 178.33a-9 - Marking.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... Transportation Other Regulations Relating to Transportation (Continued) PIPELINE AND HAZARDOUS MATERIALS SAFETY..., each container must be marked to show: (1) DOT-2Q. (2) Name or symbol of person making the mark specified in paragraph (a)(1) of this section. Symbol, if used, must be registered with the...

  6. 49 CFR 178.33a-9 - Marking.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... Transportation Other Regulations Relating to Transportation PIPELINE AND HAZARDOUS MATERIALS SAFETY..., embossing, or stamping, each container must be marked to show: (1) DOT-2Q. (2) Name or symbol of person making the mark specified in paragraph (a)(1) of this section. Symbol, if used, must be registered...

  7. The global cell therapy industry continues to rise during the second and third quarters of 2012.

    PubMed

    Mason, Chris; McCall, Mark J; Culme-Seymour, Emily J; Suthasan, Shalini; Edwards-Parton, Simon; Bonfiglio, Gregory A; Reeve, Brock C

    2012-12-01

    During Q2-Q3 2012, the cell therapy industry benefited from a number of positive external influences including advantageous changes to future FDA regulation, but stock market activity was highly mixed. The FDA approved two more products and an appreciable number of public-company-sponsored clinical trials are progressing through phases 1-3. PMID:23217418

  8. 26 CFR 54.4977-1T - Questions and answers relating to the election concerning lines of business in existence on...

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... business, then all employees of any line of business of the employer which was in existence on January 1...)) as employees of the one line of business referred to in (b) of this Q/A-2. Q-3: How does an employer... discount) to be offered to employees pursuant to section 4977 in such line of business, and (2)...

  9. 12 CFR 615.5450 - Definitions.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... meaning as in 31 CFR 357.2. (q) Securities Documentation means the applicable statement of terms, trust... claim that a claimant has a property interest in a security and that it is a violation of the rights of... this section. (t) Security Entitlement means the rights and property interest of an entitlement...

  10. 12 CFR 615.5450 - Definitions.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... meaning as in 31 CFR 357.2. (q) Securities Documentation means the applicable statement of terms, trust... claim that a claimant has a property interest in a security and that it is a violation of the rights of... this section. (t) Security Entitlement means the rights and property interest of an entitlement...

  11. 12 CFR 615.5450 - Definitions.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... meaning as in 31 CFR 357.2. (q) Securities Documentation means the applicable statement of terms, trust... claim that a claimant has a property interest in a security and that it is a violation of the rights of... this section. (t) Security Entitlement means the rights and property interest of an entitlement...

  12. Low-power broadband homonuclear dipolar recoupling in MAS NMR by two-fold symmetry pulse schemes for magnetization transfers and double-quantum excitation

    NASA Astrophysics Data System (ADS)

    Teymoori, Gholamhasan; Pahari, Bholanath; Edén, Mattias

    2015-12-01

    We provide an experimental, numerical, and high-order average Hamiltonian evaluation of an open-ended series of homonuclear dipolar recoupling sequences, SR2 2p 1 with p = 1, 2, 3, … . While operating at a very low radio-frequency (rf) power, corresponding to a nutation frequency of 1/2 of the magic-angle spinning (MAS) rate (ωnut =ωr / 2), these recursively generated double-quantum (2Q) dipolar recoupling schemes offer a progressively improved compensation to resonance offsets and rf inhomogeneity for increasing pulse-sequence order p. The excellent recoupling robustness to these experimental obstacles, as well as to CSA, is demonstrated for 2Q filtering (2QF) experiments and for driving magnetization transfers in 2D NMR correlation spectroscopy, where the sequences may provide either double or zero quantum dipolar Hamiltonians during mixing. Experimental and numerical demonstrations, which mostly target conditions of "ultra-fast" MAS (≳50 kHz) and high magnetic fields, are provided for recoupling of 13C across a wide range of isotropic and anisotropic chemical shifts, as well as dipolar coupling constants, encompassing [2,3-13C2 ]alanine, [1,3-13C2 ]alanine, diammonium [1,4-13C2 ]fumarate, and [U-13 C]tyrosine. When compared at equal power levels, a superior performance is observed for the SR2p 1 sequences with p ⩾ 3 relative to existing and well-established 2Q recoupling techniques. At ultra-fast MAS, proton decoupling is redundant during the homonuclear dipolar recoupling of dilute spins in organic solids, which renders the family of SR2p 1 schemes the first efficient 2Q recoupling option for general applications, such as 2Q-1Q correlation NMR and high-order multiple-quantum excitation, under truly low-power rf conditions.

  13. MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.

    PubMed

    Mullegama, Sureni V; Pugliesi, Loren; Burns, Brooke; Shah, Zalak; Tahir, Raiha; Gu, Yanghong; Nelson, David L; Elsea, Sarah H

    2015-06-01

    Individuals with autism spectrum disorders (ASD) who have an identifiable single-gene neurodevelopmental disorder (NDD), such as fragile X syndrome (FXS, FMR1), Smith-Magenis syndrome (SMS, RAI1), or 2q23.1 deletion syndrome (del 2q23.1, MBD5) share phenotypic features, including a high prevalence of sleep disturbance. We describe the circadian deficits in del 2q23.1 through caregiver surveys in which we identify several frequent sleep anomalies, including night/early awakenings, coughing/snoring loudly, and difficulty falling asleep. We couple these findings with studies on the molecular analysis of the circadian deficits associated with haploinsufficiency of MBD5 in which circadian gene mRNA levels of NR1D2, PER1, PER2, and PER3 were altered in del 2q23.1 lymphoblastoid cell lines (LCLs), signifying that haploinsufficiency of MBD5 can result in dysregulation of circadian rhythm gene expression. These findings were further supported by expression microarrays of MBD5 siRNA knockdown cells that showed significantly altered expression of additional circadian rhythm signaling pathway genes. Based on the common sleep phenotypes observed in del 2q23.1, SMS, and FXS patients, we explored the possibility that MBD5, RAI1, and FMR1 function in overlapping circadian rhythm pathways. Bioinformatic analysis identified conserved putative E boxes in MBD5 and RAI1, and expression levels of NR1D2 and CRY2 were significantly reduced in patient LCLs. Circadian and mTOR signaling pathways, both associated with sleep disturbance, were altered in both MBD5 and RAI1 knockdown microarray data, overlapping with findings associated with FMR1. These data support phenotypic and molecular overlaps across these syndromes that may be exploited to provide therapeutic intervention for multiple disorders. PMID:25271084

  14. Low-power broadband homonuclear dipolar recoupling in MAS NMR by two-fold symmetry pulse schemes for magnetization transfers and double-quantum excitation.

    PubMed

    Teymoori, Gholamhasan; Pahari, Bholanath; Edén, Mattias

    2015-12-01

    We provide an experimental, numerical, and high-order average Hamiltonian evaluation of an open-ended series of homonuclear dipolar recoupling sequences, SR [Formula: see text] with p=1,2,3,…. While operating at a very low radio-frequency (rf) power, corresponding to a nutation frequency of 1/2 of the magic-angle spinning (MAS) rate (ωnut=ωr/2), these recursively generated double-quantum (2Q) dipolar recoupling schemes offer a progressively improved compensation to resonance offsets and rf inhomogeneity for increasing pulse-sequence order p. The excellent recoupling robustness to these experimental obstacles, as well as to CSA, is demonstrated for 2Q filtering (2QF) experiments and for driving magnetization transfers in 2D NMR correlation spectroscopy, where the sequences may provide either double or zero quantum dipolar Hamiltonians during mixing. Experimental and numerical demonstrations, which mostly target conditions of "ultra-fast" MAS (≳50kHz) and high magnetic fields, are provided for recoupling of (13)C across a wide range of isotropic and anisotropic chemical shifts, as well as dipolar coupling constants, encompassing [2,3-(13)C2]alanine, [1,3-(13)C2]alanine, diammonium [1,4-(13)C2]fumarate, and [U-(13)C]tyrosine. When compared at equal power levels, a superior performance is observed for the SR [Formula: see text] sequences with p⩾3 relative to existing and well-established 2Q recoupling techniques. At ultra-fast MAS, proton decoupling is redundant during the homonuclear dipolar recoupling of dilute spins in organic solids, which renders the family of SR [Formula: see text] schemes the first efficient 2Q recoupling option for general applications, such as 2Q-1Q correlation NMR and high-order multiple-quantum excitation, under truly low-power rf conditions. PMID:26515279

  15. Water-soluble fluorescent conjugated polymer-enzyme hybrid system for the determination of both hydroquinone and hydrogen peroxide.

    PubMed

    Huang, Hui; Xu, Min; Gao, Yuan; Wang, Guannan; Su, Xingguang

    2011-10-30

    In this paper, a sensitive and simple detecting system was developed for quantitative analysis of both hydroquinone (H(2)Q) and hydrogen peroxide (H(2)O(2)), based on the successful combination of horse radish peroxidase (HRP) and water-soluble conjugate fluorescence polymers PPESO(3). In the presence of HRP and H(2)O(2), H(2)Q could be oxidized to 1,4-benzoquinone (BQ), an intermediate, which plays the main role in the enhanced quenching of the photoluminescence (PL) intensity of PPESO(3). The quenching PL intensity of PPESO(3) (I(0)/I) was proportional to the concentration of H(2)Q and H(2)O(2) in the range of 1.0 × 10(-6) to 2.0 × 10(-3)mol/L (R(2)=0.996) and 6.0 × 10(-6) to 2.0 × 10(-3)mol/L (R(2)=0.999), respectively. The detection limit for H(2)Q and H(2)O(2) was 5.0 × 10(-7)mol/L and 1.0 × 10(-6)mol/L, respectively. The present fluorescence quenching method was successfully applied for the determination of H(2)Q in the lake water, rainwater, tap-water and chemical plant wastewater samples. Compared with previous reports, the fluorescence quenching approach described in this work is simple and rapid with high sensitivity, which has a potential application for detecting various analytes which can be translated into quinone. PMID:22063526

  16. The Diophantine Equation 8x + py = z2

    PubMed Central

    Qi, Lan; Li, Xiaoxue

    2015-01-01

    Let p be a fixed odd prime. Using certain results of exponential Diophantine equations, we prove that (i) if p ≡ ±3(mod  8), then the equation 8x + py = z2 has no positive integer solutions (x, y, z); (ii) if p ≡ 7(mod  8), then the equation has only the solutions (p, x, y, z) = (2q − 1, (1/3)(q + 2), 2, 2q + 1), where q is an odd prime with q ≡ 1(mod  3); (iii) if p ≡ 1(mod  8) and p ≠ 17, then the equation has at most two positive integer solutions (x, y, z). PMID:25654128

  17. Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12

    PubMed Central

    2009-01-01

    In order to identify new markers around the glaucoma locus GLC1B as a tool to refine its critical region at 2p11.2-2q11.2, we searched the critical region sequence obtained from the UCSC database for tetranucleotide (GATA)n and (GTCT)n repeats of at least 10 units in length. Three out of four potential microsatellite loci were found to be polymorphic, heterozygosity ranging from 64.56% to 79.59%. The identified markers are useful not only for GLC1B locus but also for the study of other disease loci at 2p11.2-2q11.2, a region with scarcity of microsatellite markers. PMID:21637444

  18. The Color Dipole Picture and the Ratio of the Longitudinal to the Transverse Photoabsorption Cross Section

    SciTech Connect

    Schildknecht, Dieter

    2009-03-23

    The transverse size of qq-bar fluctuations of a longitudinally polarized photon is reduced relative to the transverse size of qq-bar fluctuations of a transversely polarized photon. This implies a model-independent prediction of the ratio R(W{sup 2},Q{sup 2}){identical_to}{sigma}{sub L}/{sigma}{sub T} = 0.375, or, equivalently, F{sub L}/F{sub 2} = 0.27, for x congruent with Q{sup 2}/W{sup 2}<<1 and Q{sup 2} sufficiently large, while R(W{sup 2},Q{sup 2}) 0.50, if this effect is ignored. Experimental data from HERA confirm the transverse-size reduction.

  19. Form of 15q proximal duplication appears to be a normal euchromatic variant

    SciTech Connect

    Jalal, S.M.; Persons, D.L.; DeWald, G.W.; Lindor, N.M.

    1994-10-01

    Deletions involving often leads to either Prader-Willi or Angelman syndrome, depending on the hereditary path of the deletion (paternal or maternal). A number of cases have been reported in which duplications involving 15q11.2-q13 have not been associated with any detectable phenotypic abnormalities. Ludowese et al. (1991) have summarized 25 such cases that include 10 of their own cases from 5 unrelated families. They conclude that duplication of 15q12-13 does not have an adverse phenotypic effect, though they do not completely rule out the possibility that, instead of 15q12-13 duplication, the extra material could be an insertion from another chromosome. Thus, the dilemma is when duplication of 15q11.2-q13 is clinically significant. We suggest that certain kinds of amplification or duplication involving distal 15q12 and 15q13 may represent a normal variant. 14 refs., 1 fig., 1 tab.

  20. Multiscale Talbot effects in Fibonacci geometry

    NASA Astrophysics Data System (ADS)

    Ho, I.-Lin; Chang, Yia-Chung

    2015-04-01

    This article investigates the Talbot effects in Fibonacci geometry by introducing the cut-and-projection construction, which allows for capturing the entire infinite Fibonacci structure in a single computational cell. Theoretical and numerical calculations demonstrate the Talbot foci of Fibonacci geometry at distances that are multiples (τ +2){{({{F}μ }+τ {{F}μ +1})}-1}p/(2q) or (τ +2){{({{L}μ }+τ {{L}μ +1})}-1}p/(2q) of the Talbot distance. Here (p, q) are coprime integers, μ is an integer, τ is the golden mean, and {{F}μ } and {{L}μ } are Fibonacci and Lucas numbers, respectively. The image of a single Talbot focus exhibits a multiscale-interval pattern due to the self-similarity of the scaling Fourier spectrum.

  1. Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12.

    PubMed

    Murga-Zamalloa, Carlos; Guevara-Fujita, Maria Luisa; Estrada-Cuzcano, Alejandro; Fujita, Ricardo

    2009-10-01

    In order to identify new markers around the glaucoma locus GLC1B as a tool to refine its critical region at 2p11.2-2q11.2, we searched the critical region sequence obtained from the UCSC database for tetranucleotide (GATA)n and (GTCT)n repeats of at least 10 units in length. Three out of four potential microsatellite loci were found to be polymorphic, heterozygosity ranging from 64.56% to 79.59%. The identified markers are useful not only for GLC1B locus but also for the study of other disease loci at 2p11.2-2q11.2, a region with scarcity of microsatellite markers. PMID:21637444

  2. Synthesis and biological evaluation of some new pyrazoline substituted benzenesulfonylurea/thiourea derivatives as anti-hyperglycaemic agents and aldose reductase inhibitors.

    PubMed

    Ovais, Syed; Pushpalatha, H; Reddy, G Bhanuprakash; Rathore, Pooja; Bashir, Rafia; Yaseen, Shafiya; Dheyaa, Alhamza; Yaseen, Raed; Tanwar, Omprakash; Akthar, Mymoona; Samim, Mohammed; Javed, Kalim

    2014-06-10

    Seventeen new pyrazoline substituted benzenesulfonylurea/thiourea derivatives (2a-q) were synthesized and characterized by elemental analysis and various spectroscopic techniques viz; IR, (1)H NMR, (13)C NMR, and MS data. Thirteen compounds showed moderate to good anti-hyperglycaemic activity in glucose fed hyperglycaemic normal rats at the dose of 0.05 mM/kg b.w. On the basis of docking results nine compounds (2a, 2c, 2e, 2h, 2k, 2l, 2n, 2o and 2q) were evaluated for their ability to inhibit rat lens aldose reductase. Out of these six compounds (2h, 2k, 2l, 2n, 2o and 2q) were found more effective than the known ARI sorbinil. Five compounds (2h, 2k, 2l, 2n and 2o) showed significant dual action (anti-hyperglycaemic and aldose reductase inhibition). PMID:24780598

  3. Complex formation between uranyl and various thiosemicarbazide derivatives

    SciTech Connect

    Chuguryan, D.G.; Dzyubenko, V.I.

    1987-01-01

    Complex formation between hexavalent uranium and salicylaldehyde thiosemicarbazone (H/sub 2/L), salicylaldehyde S-methyl-isothiosemicarbazone (H/sub 2/Q), S-methyl-N/sub 1/,N/sub 4/-bis(salicylidene)isothiosemicarbazide(H/sub 2/Z), and thiosemicarbazidodiacetic acid (H/sub 2/R) has been studied spectrophotometrically in solution. Stability constants for complexes having the composition UO/sub 2/A have been calculated. Solid uranyl derivatives having the composition UO/sub 2/L x 2H/sub 2/O, UO/sub 2/Q x 2H/sub 2/O, UO/sub 2/Z x 2H/sub 2/O, and UO/sub 2/R x 2H/sub 2/O have been obtained. These derivatives were isolated and their IR spectroscopic behavior and thermal properties were investigated.

  4. Analytic formula for quadrupole-quadrupole matrix elements

    NASA Astrophysics Data System (ADS)

    Rosensteel, G.

    1990-12-01

    An analytic formula is reported for general matrix elements of the microscopic quadrupole-quadrupole operator in the U(3)-boson approximation. The complete infinite-dimensional basis of A-fermion wave functions is compatible with the harmonic-oscillator shell model and consists of np-nh configurations, with spurious center-of-mass excitations removed, which are symmetry adapted to the Elliott U(3) and symplectic Sp(3,R) models. The formula expresses the general Q2.Q2 matrix element with respect to this complete orthonormal basis as a Racah SU(3) U coefficient times a closed-shell matrix element. An oscillator closed-shell matrix element of Q2.Q2 is a square root of a rational function of the integer quantum numbers of the U(3) basis.

  5. A Model of Direct Gauge Mediation of Supersymmetry Breaking

    NASA Astrophysics Data System (ADS)

    Murayama, Hitoshi

    1997-07-01

    We present the first phenomenologically viable model of gauge meditation of supersymmetry breaking without a messenger sector or gauge singlet fields. The standard model gauge groups couple directly to the sector which breaks supersymmetry dynamically. Despite the direct coupling, it can preserve perturbative gauge unification thanks to the inverted hierarchy mechanism. There is no dangerous negative contribution to m2q~, m2l~ due to two-loop renormalization group equation. The potentially nonuniversal supergravity contribution to m2q~ and m2l~ can be suppressed enough. The model is completely chiral, and one does not need to forbid mass terms for the messenger fields by hand. Cosmology of the model is briefly discussed.

  6. Epigenetic Regulation of UBE3A and Roles in Human Neurodevelopmental Disorders

    PubMed Central

    LaSalle, Janine M.; Reiter, Lawrence T.; Chamberlain, Stormy J.

    2016-01-01

    Summary The E3 ubiquitin ligase protein UBE3A, also known as E6-AP, has a multitude of ascribed functions and targets relevant to human health and disease. Epigenetic regulation of the UBE3A gene by parentally imprinted noncoding transcription within human chromosome 15q11.2-q13.3 is responsible for the maternal-specific effects of 15q11.2-q13.3 deletion or duplication disorders. Here, we review the evidence for diverse and emerging roles for UBE3A in the proteasome, synapse, and nucleus in regulating protein stability and transcription as well as the current mechanistic understanding of UBE3A imprinting in neurons. Angelman and Dup15q syndromes as well as experimental models of these neurodevelopmental disorders are highlighted as improving understanding of UBE3A and its complex regulation for improving therapeutic strategies. PMID:26585570

  7. Co-GISAXS technique for investigating surface growth dynamics

    SciTech Connect

    Rainville, Meliha G.; Hoskin, Christa; Ulbrandt, Jeffrey G.; Narayanan, Suresh; Sandy, Alec R.; Zhou, Hua; Headrick, Randall L.; Ludwig, Jr., Karl F.

    2015-12-08

    Detailed quantitative measurement of surface dynamics during thin film growth is a major experimental challenge. Here X-ray Photon Correlation Spectroscopy with coherent hard X-rays is used in a Grazing-Incidence Small-Angle X-ray Scattering (i.e. Co-GISAXS) geometry as a new tool to investigate nanoscale surface dynamics during sputter deposition of a-Si and a-WSi2 thin films. For both films, kinetic roughening during surface growth reaches a dynamic steady state at late times in which the intensity autocorrelation function g2(q,t) becomes stationary. The g2(q,t) functions exhibit compressed exponential behavior at all wavenumbers studied. The overall dynamics are complex, but the most surface sensitive sections of the structure factor and correlation time exhibit power law behaviors consistent with dynamical scaling.

  8. Two-dimensional MAS NMR correlation protocols involving double-quantum filtering of quadrupolar spin-pairs.

    PubMed

    Edén, Mattias

    2010-05-01

    Three two-dimensional (2D) NMR homonuclear correlation techniques invoking double-quantum (2Q) filtration of the central transitions of half-integer spins are evaluated numerically and experimentally. They correlate directly detected single-quantum (1Q) coherences in the t(2) domain with either of 1Q, two-spin 2Q or single-spin multiple-quantum coherence-evolutions in the indirect (t(1)) dimension. We employ experimental (23)Na and (27)Al NMR on sodium sulfite and the natural mineral sillimanite (SiAl(2)O(5)), in conjunction with simulated 2D spectra from pairs of dipolar-recoupled spins-3/2 and 5/2 at different external magnetic fields, to compare the correlation strategies from the viewpoints of 2D spectral resolution, signal sensitivity, implementational aspects and their relative merits for establishing internuclear proximities and quadrupolar tensor orientations. PMID:20202872

  9. Quadratic Herman-Wallis factors in the fundamental bands of linear molecules

    NASA Astrophysics Data System (ADS)

    Watson, James K. G.

    1987-10-01

    General theoretical formulas are derived for the coefficients in the terms M˜12 and M˜13 of the effective molecular dipole moment operator, and applied to the parallel and perpendicular fundamentals of linear molecules. The Herman-Wallis factors for P- and R-branch lines are F PR = [1 + A 1m + A 2PRm 2] 2, m = δ J( J' + J″ + 1)/2 and for Q-branch lines F Q = [1 + A 2QJ ( J + 1)] 2 The quadratic coefficients A2PR and A2Q depend on up to cubic potential derivatives and quadratic dipole derivatives. Calculated A2PR and A2Q values for the fundamentals of CO 2 do not agree well with recent measurements of Johns, and possible reasons for the discrepancies are discussed.

  10. An asymptotic expansion for energy eigenvalues of anharmonic oscillators

    SciTech Connect

    Gaudreau, Philippe; Slevinsky, Richard M.; Safouhi, Hassan

    2013-10-15

    In the present contribution, we derive an asymptotic expansion for the energy eigenvalues of anharmonic oscillators for potentials of the form V(x)=κx{sup 2q}+ωx{sup 2},q=2,3,… as the energy level n approaches infinity. The asymptotic expansion is obtained using the WKB theory and series reversion. Furthermore, we construct an algorithm for computing the coefficients of the asymptotic expansion for quartic anharmonic oscillators, leading to an efficient and accurate computation of the energy values for n≥6. -- Highlights: •We derived the asymptotic expansion for energy eigenvalues of anharmonic oscillators. •A highly efficient recursive algorithm for computing S{sub k}{sup ′}(z) for WKB. •We contributed to series reversion theory by reverting a new form of asymptotic series. •Our numerical algorithm achieves high accuracy for higher energy levels.

  11. Diagnosis of a constitutional five-chromosome rearrangement by fluorescent in situ hybridization (FISH)

    SciTech Connect

    Tsien, F.; Shapira, E.; Carvalho, T.

    1994-09-01

    Complex chromosomal rearrangements are structural rearrangements involving at least three chromosomes and three or more chromosome breakpoints. Such karyotypes are often acquired during cancer multi-step development and in chromosome instability syndromes. However, extremely rare constitutional forms have been reported, most of which are incompatible with life. We present a 2-year-old female with de novo complex rearrangement consisting of five chromosomes and nine breakpoints. Clinical evaluation at two years of age revealed a weight of 5 kg, length of 66 cm, and had circumference of 38 cm, all below the 5th percentile, microcephaly, trigonocephaly, epicanthal folds, inguinal hernia, left clubfoot, hypertonicity, and developmental delay. The neurological examination revealed chorea-acanthocytosis and psychomotor delay. Cultured lymphocytes and fibroblasts revealed a karyotype consisting of five derivative chromosomes. The metaphases were further analyzed by FISH using chromosome-specific libraries and telomeric probes in order to delineate the composition of the rearranged chromosomes; FISH results demonstrated a karyotype of: 46,XX,1pter{r_arrow}1q25::1q42.1{r_arrow}1qter, 2pter{r_arrow}q32.3::1q32.3{r_arrow}2q41::2q37.3{r_arrow}2qter, 7qter{r_arrow}7q21.2::6q22.3{r_arrow}6qter::1q31{r_arrow}1q32.3::6p23{r_arrow}6q22.3, 7pter{r_arrow}7q21.1::6p23{r_arrow}6pter, 2q33{r_arrow}2q37, 1::9p21{r_arrow}9qter. This analysis demonstrates the usefulness of FISH in characterizing complex chromosome rearrangements otherwise difficult to correctly interpret using classical cytogenetics alone.

  12. Dressed skeleton expansion and the coupling scale ambiguity problem

    SciTech Connect

    Lu, Hung Jung

    1992-09-01

    Perturbative expansions in quantum field theories are usually expressed in powers of a coupling constant. In principle, the infinite sum of the expansion series is independent of the renormalization scale of the coupling constant. In practice, there is a remnant dependence of the truncated series on the renormalization scale. This scale ambiguity can severely restrict the predictive power of theoretical calculations. The dressed skeleton expansion is developed as a calculational method which avoids the coupling scale ambiguity problem. In this method, physical quantities are expressed as functional expansions in terms of a coupling vertex function. The arguments of the vertex function are given by the physical momenta of each process. These physical momenta effectively replace the unspecified renormalization scale and eliminate the ambiguity problem. This method is applied to various field theoretical models and its main features and limitations are explored. For quantum chromodynamics, an expression for the running coupling constant of the three-gluon vertex is obtained. The effective coupling scale of this vertex is shown to be essentially given by {mu}{sup 2} {approximately} Q{sub min}{sup 2}Q{sub med}{sup 2}/Q{sub max}{sup 2} where Q{sub min}{sup 2}Q{sub med}{sup 2}/Q{sub max}{sup 2} are respectively the smallest, the next-to-smallest and the largest scale among the three gluon virtualities. This functional form suggests that the three-gluon vertex becomes non-perturbative at asymmetric momentum configurations. Implications for four-jet physics is discussed.

  13. A molecular model for neurodevelopmental disorders

    PubMed Central

    Gigek, C O; Chen, E S; Ota, V K; Maussion, G; Peng, H; Vaillancourt, K; Diallo, A B; Lopez, J P; Crapper, L; Vasuta, C; Chen, G G; Ernst, C

    2015-01-01

    Genes implicated in neurodevelopmental disorders (NDDs) important in cognition and behavior may have convergent function and several cellular pathways have been implicated, including protein translational control, chromatin modification, and synapse assembly and maintenance. Here, we test the convergent effects of methyl-CpG binding domain 5 (MBD5) and special AT-rich binding protein 2 (SATB2) reduced dosage in human neural stem cells (NSCs), two genes implicated in 2q23.1 and 2q33.1 deletion syndromes, respectively, to develop a generalized model for NDDs. We used short hairpin RNA stably incorporated into healthy neural stem cells to supress MBD5 and SATB2 expression, and massively parallel RNA sequencing, DNA methylation sequencing and microRNA arrays to test the hypothesis that a primary etiology of NDDs is the disruption of the balance of NSC proliferation and differentiation. We show that reduced dosage of either gene leads to significant overlap of gene-expression patterns, microRNA patterns and DNA methylation states with control NSCs in a differentiating state, suggesting that a unifying feature of 2q23.1 and 2q33.1 deletion syndrome may be a lack of regulation between proliferation and differentiation in NSCs, as we observed previously for TCF4 and EHMT1 suppression following a similar experimental paradigm. We propose a model of NDDs whereby the balance of NSC proliferation and differentiation is affected, but where the molecules that drive this effect are largely specific to disease-causing genetic variation. NDDs are diverse, complex and unique, but the optimal balance of factors that determine when and where neural stem cells differentiate may be a major feature underlying the diverse phenotypic spectrum of NDDs. PMID:25966365

  14. 49 CFR 173.309 - Fire extinguishers.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... “This extinguisher meets all requirements of 49 CFR 173.306” may be displayed on fire extinguishers... the Department of Labor, 29 CFR 1910.157. (4) Specification 2P or 2Q (§§ 178.33 and 178.33a of this..., distortion, or other defect. (b) Specification 3A, 3AA, 3E, 3AL, 4B, 4BA, 4B240ET or 4BW (§§ 178.36,...

  15. 49 CFR 173.309 - Fire extinguishers.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... “This extinguisher meets all requirements of 49 CFR 173.306” may be displayed on fire extinguishers... the Department of Labor, 29 CFR 1910.157. (4) Specification 2P or 2Q (§§ 178.33 and 178.33a of this..., distortion, or other defect. (b) Specification 3A, 3AA, 3E, 3AL, 4B, 4BA, 4B240ET or 4BW (§§ 178.36,...

  16. 49 CFR 173.309 - Fire extinguishers.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... “This extinguisher meets all requirements of 49 CFR 173.306” may be displayed on fire extinguishers... the Department of Labor, 29 CFR 1910.157. (4) Specification 2P or 2Q (§§ 178.33 and 178.33a of this..., distortion, or other defect. (b) Specification 3A, 3AA, 3E, 3AL, 4B, 4BA, 4B240ET or 4BW (§§ 178.36,...

  17. 26 CFR 1.401(a)(31)-1 - Requirement to offer direct rollover of eligible rollover distributions; questions and answers.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... sections 402(c), 402(f), 403(b)(8) and (10), and 3405(c), see §§ 1.402(c)-2, 1.402(f)-1, and 1.403(b)-7(b... in section 402(c)(8)(B) and § 1.402(c)-2, Q&A-2. (b) Related Internal Revenue Code provisions—(1...). (3) Section 403(b) annuities. Section 403(b)(10) provides that requirements similar to those...

  18. 26 CFR 1.401(a)(31)-1 - Requirement to offer direct rollover of eligible rollover distributions; questions and answers.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... sections 402(c), 402(f), 403(b)(8) and (10), and 3405(c), see §§ 1.402(c)-2, 1.402(f)-1, and 1.403(b)-7(b... in section 402(c)(8)(B) and § 1.402(c)-2, Q&A-2. (b) Related Internal Revenue Code provisions—(1...). (3) Section 403(b) annuities. Section 403(b)(10) provides that requirements similar to those...

  19. 26 CFR 1.401(a)(31)-1 - Requirement to offer direct rollover of eligible rollover distributions; questions and answers.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... sections 402(c), 402(f), 403(b)(8) and (10), and 3405(c), see §§ 1.402(c)-2, 1.402(f)-1, and 1.403(b)-7(b... in section 402(c)(8)(B) and § 1.402(c)-2, Q&A-2. (b) Related Internal Revenue Code provisions—(1...). (3) Section 403(b) annuities. Section 403(b)(10) provides that requirements similar to those...

  20. Two-photon exchange corrections to the pion form factor

    DOE PAGESBeta

    Peter G. Blunden; Melnitchouk, Wally; Tjon, John A.

    2010-01-06

    Here, we compute two-photon exchange corrections to the electromagnetic form factor of the pion, taking into account the finite size of the pion. Compared to the soft-photon approximation for the infrared divergent contribution which neglects hadron structure effects, the corrections are found to be ≲ 1% for small Q2 (Q2 < 0.1 GeV2), but increase to several percent for Q2 ≳ 1 GeV2 at extreme backward angles.

  1. Down syndrome due to a recombination of a chromosome 21 paracentric inversion in 1 of 2 cases with a review of paracentric recombinants

    SciTech Connect

    Jewett, T.; Rao, P.N.; Berry, M.

    1994-09-01

    We recently identified 2 paracentric inversions (PAI) of chromosome 21. Case 1 was identified prenatally and paternally inherited: 46,XY,inv(21)(q21.2q22.13). The outcome is pending. Case 2 was a newborn male infant with clinical features of Down syndrome and an apparent inversion-duplication within chromosome 21. Parental chromosome analysis showed a maternal PAI: 46,XX,inv(21)(q21.2q22.3). The resulting child`s karyotype was: 46,XY,rec(21)(pter{yields}q21.2::q22.3{yields}q21.2::q22.3{yields}pter). Duplication of chromosome region q22.3{yields}qter was confirmed by FISH using a Down syndrome region specific probe (Cambio). Cytologically, the cornerstone of meiotic recombination from a paracentric inversion is the {open_quotes}reverse loop{close_quotes} model. In this model, a crossover event in the inversion loop results in the formation of gametes carrying either a dicentric chromatid, an acentric fragment, a normal chromatid or a chromatid with an inversion. However, a literature review of 326 PAI identified only 2 dicentrics and 15 other recombinants: 1 duplication/deletion; 6 deletions; 8 duplications. A U-type exchange model during meiosis within the inversion loop may best account for duplication/deletion recombinants. In contrast, the recombination in our case 2 would have occurred outside the loop. It is possible that no single explanation for PAI recombination may account for all outcomes. Alternative models of PAI recominational events will be presented. The literature suggests a low risk for prenatal loss due to abnormal PAI recombinants. In our review, viable offspring with recombinant chromosomes occurred in 3.8% of the PAI. Considering the potential for an increased incidence of recombination, prenatal diagnosis for all PAI carriers is warranted.

  2. Changes in the redox potential of primary and secondary electron-accepting quinones in photosystem II confer increased resistance to photoinhibition in low-temperature-acclimated Arabidopsis.

    PubMed

    Sane, Prafullachandra Vishnu; Ivanov, Alexander G; Hurry, Vaughan; Huner, Norman P A; Oquist, Gunnar

    2003-08-01

    Exposure of control (non-hardened) Arabidopsis leaves for 2 h at high irradiance at 5 degrees C resulted in a 55% decrease in photosystem II (PSII) photochemical efficiency as indicated by F(v)/F(m). In contrast, cold-acclimated leaves exposed to the same conditions showed only a 22% decrease in F(v)/F(m). Thermoluminescence was used to assess the possible role(s) of PSII recombination events in this differential resistance to photoinhibition. Thermoluminescence measurements of PSII revealed that S(2)Q(A)(-) recombination was shifted to higher temperatures, whereas the characteristic temperature of the S(2)Q(B)(-) recombination was shifted to lower temperatures in cold-acclimated plants. These shifts in recombination temperatures indicate higher activation energy for the S(2)Q(A)(-) redox pair and lower activation energy for the S(2)Q(B)(-) redox pair. This results in an increase in the free-energy gap between P680(+)Q(A)(-) and P680(+)Pheo(-) and a narrowing of the free energy gap between primary and secondary electron-accepting quinones in PSII electron acceptors. We propose that these effects result in an increased population of reduced primary electron-accepting quinone in PSII, facilitating non-radiative P680(+)Q(A)(-) radical pair recombination. Enhanced reaction center quenching was confirmed using in vivo chlorophyll fluorescence-quenching analysis. The enhanced dissipation of excess light energy within the reaction center of PSII, in part, accounts for the observed increase in resistance to high-light stress in cold-acclimated Arabidopsis plants. PMID:12913169

  3. Iron-Mediated Oxidation of Methoxyhydroquinone under Dark Conditions: Kinetic and Mechanistic Insights.

    PubMed

    Yuan, Xiu; Davis, James A; Nico, Peter S

    2016-02-16

    Despite the biogeochemical significance of the interactions between natural organic matter (NOM) and iron species, considerable uncertainty still remains as to the exact processes contributing to the rates and extents of complexation and redox reactions between these important and complex environmental components. Investigations on the reactivity of low-molecular-weight quinones, which are believed to be key redox active compounds within NOM, toward iron species, could provide considerable insight into the kinetics and mechanisms of reactions involving NOM and iron. In this study, the oxidation of 2-methoxyhydroquinone (MH2Q) by ferric iron (Fe(III)) under dark conditions in the absence and presence of oxygen was investigated within a pH range of 4-6. Although Fe(III) was capable of stoichiometrically oxidizing MH2Q under anaerobic conditions, catalytic oxidation of MH2Q was observed in the presence of O2 due to further cycling between oxygen, semiquinone radicals, and iron species. A detailed kinetic model was developed to describe the predominant mechanisms, which indicated that both the undissociated and monodissociated anions of MH2Q were kinetically active species toward Fe(III) reduction, with the monodissociated anion being the key species accounting for the pH dependence of the oxidation. The generated radical intermediates, namely semiquinone and superoxide, are of great importance in reaction-chain propagation. The kinetic model may provide critical insight into the underlying mechanisms of the thermodynamic and kinetic characteristics of metal-organic interactions and assist in understanding and predicting the factors controlling iron and organic matter transformation and bioavailability in aquatic systems. PMID:26789138

  4. Construction and accuracy of partial differential equation approximations to the chemical master equation.

    PubMed

    Grima, Ramon

    2011-11-01

    The mesoscopic description of chemical kinetics, the chemical master equation, can be exactly solved in only a few simple cases. The analytical intractability stems from the discrete character of the equation, and hence considerable effort has been invested in the development of Fokker-Planck equations, second-order partial differential equation approximations to the master equation. We here consider two different types of higher-order partial differential approximations, one derived from the system-size expansion and the other from the Kramers-Moyal expansion, and derive the accuracy of their predictions for chemical reactive networks composed of arbitrary numbers of unimolecular and bimolecular reactions. In particular, we show that the partial differential equation approximation of order Q from the Kramers-Moyal expansion leads to estimates of the mean number of molecules accurate to order Ω(-(2Q-3)/2), of the variance of the fluctuations in the number of molecules accurate to order Ω(-(2Q-5)/2), and of skewness accurate to order Ω(-(Q-2)). We also show that for large Q, the accuracy in the estimates can be matched only by a partial differential equation approximation from the system-size expansion of approximate order 2Q. Hence, we conclude that partial differential approximations based on the Kramers-Moyal expansion generally lead to considerably more accurate estimates in the mean, variance, and skewness than approximations of the same order derived from the system-size expansion. PMID:22181475

  5. Modeling Neutron Star Stability with a Modified Tolman-Oppenheimer-Volkoff Equation

    NASA Astrophysics Data System (ADS)

    Chaykov, Spasen; O'Brien, James

    2016-03-01

    The Tolman-Oppenheimer-Volkoff (TOV) equation represents the solution to the Einstein field equations where the source of curvature is given by the stress-energy tensor of a perfect fluid. In flat space it has the form Tμν = (ρ + p) UμUν + pημν and the convention for curved space-time is to just replace the Minkowski metric with gμν. For our research we instead use a modified stress-energy tensor of the form Tμν = (ρ + p) UμUν + pgμν +πμν where the anisotropic πμν is a symmetric, traceless rank two tensor which obeys Uμπμν = 0 . The motivation is that such a term in the stress-energy tensor can account for effects due to the curvature of space-time and would not be present in the tensor describing flat space.The final revised TOV equation is of the form -r2p' = GMρ [ 1 +p/- 2 q ρ ] [ 1 +4/πr3 (p - 2 q) M ] [ 1 -2/GM r ] - 1 - 2r2q' - 6 rq where the primes indicate differentiation with respect to the radial coordinate and the q terms arise from the components of πμν. The equation was then solved numerically with both a polytropic and a MIT bag model equations of state. The result is a changed prediction for the stability range of neutron stars.

  6. Simple contour analysis of ignition conditions and plasma operating regimes in tokamaks

    SciTech Connect

    Uckan, N.A.; Sheffield, J.; Selcow, E.C.

    1985-01-01

    Contour plots of ignition, auxiliary power requirements, heating and operating windows, optimal path to ignition, ignition margin, etc., are generated analytically in terms of a small number of parameters (aB/sub 0//sup 2//q/sub */, R/sub 0//B/sub 0/, , etc.) for classes of devices with equivalent performance. Numerical studies are carried out to map the physics design space. Considering both the Murakami density limit (approx.B/sub 0//R/sub 0/) and the Troyon beta limit (approx.I/aB/sub 0/), results from analytic calculations indicate that in a standard tokamak geometry (A approx. 2.5 to 3.5, kappa = b/a approx. 1.6 to 1.7, q/sub psi/ approx. 2.6) devices with aB/sub 0//sup 2//q/sub */ approx. 20 should be ignitable provided confinement does not degrade with heating (ohmic + alpha + auxiliary, etc.) power; however, aB/sub 0//sup 2//q/sub */ approx. 30 (25) may be required for minimal ignition for a typical L- (H-) mode confinement scaling. Increased plasma elongation (kappa approx. 2) may help to reduce these requirements.

  7. Concurrent MEK2 mutation and BRAF amplification confer resistance to BRAF and MEK inhibitors in melanoma

    PubMed Central

    Villanueva, Jessie; Infante, Jeffrey R.; Krepler, Clemens; Reyes-Uribe, Patricia; Samanta, Minu; Chen, Hsin-Yi; Li, Bin; Swoboda, Rolf K.; Wilson, Melissa; Vultur, Adina; Fukunaba-Kalabis, Mizuho; Wubbenhorst, Bradley; Chen, Thomas Y.; Liu, Qin; Sproesser, Katrin; DeMarini, Douglas J.; Gilmer, Tona M.; Martin, Anne-Marie; Marmorstein, Ronen; Schultz, David C.; Speicher, David W.; Karakousis, Giorgos C.; Xu, Wei; Amaravadi, Ravi K.; Xu, Xiaowe; Schuchter, Lynn M.; Herlyn, Meenhard; Nathanson, Katherine L.

    2014-01-01

    Summary Although BRAF and MEK inhibitors have proven clinical benefits in melanoma, most patients develop resistance. We report a de novo MEK2-Q60P mutation and BRAF gain in a melanoma from a patient who progressed on the MEK inhibitor trametinib and did not respond to the BRAF inhibitor dabrafenib. We also identified the same MEK2-Q60P mutation along with BRAF amplification in a xenograft tumor derived from a second melanoma patient resistant to the combination of dabrafenib and trametinib. Melanoma cells chronically exposed to trametinib acquired concurrent MEK2-Q60P mutation and BRAF-V600E amplification, which conferred resistance to MEK and BRAF inhibitors. The resistant cells had sustained MAPK activation and persistent phosphorylation of S6K. A triple combination of dabrafenib, trametinib, and the PI3K/mTOR inhibitor GSK2126458 led to sustained tumor growth inhibition. Hence, concurrent genetic events that sustain MAPK signaling can underlie resistance to both BRAF and MEK inhibitors, requiring novel therapeutic strategies to overcome it. PMID:24055054

  8. Generalized Sum Rules of the Nucleon

    NASA Astrophysics Data System (ADS)

    Gorshteyn, Mikhail; Szczepaniak, Adam

    2008-10-01

    We consider doubly virtual Compton scattering (VVCS) off the nucleon with the photon virtualities q1^2=q2^2=-Q^2 and formulate the low energy theorem (LET) for this process. We show that the LET can only be defined at finite momentum transfer t=-2Q^2 which is at variance with existing studies in the literature. Combining LET with dispersion relations for the forward VVCS amplitude, we obtain the new, correct version of the generalized sum rules of the nucleon that state a correspondence between the low energy constants of VVCS and the moments of the DIS structure functions. We notice that the t-channel unitarity is necessary to translate the forward dispersion relations to the low energy limit. This approach leads to a substantial modification of the generalized GDH sum rule at finite Q^2 that undergoes extensive studies at JLab. For the spin-independent VVCS amplitude, the new sum rule for the generalized magnetic susceptibility β(Q^2) is obtained. Our approach provides a consistent, Lorentz invariant formulation of LET for the most general VVCS process that removes inconsistencies that stain the previous studies of the generalized polarizabilities of virtual Compton scattering and the generalized sum rules of the nucleon.

  9. Molecular magnets based on homometallic hexanuclear lanthanide(III) complexes.

    PubMed

    Das, Sourav; Hossain, Sakiat; Dey, Atanu; Biswas, Sourav; Sutter, Jean-Pascal; Chandrasekhar, Vadapalli

    2014-05-19

    The reaction of lanthanide(III) chloride salts (Gd(III), Dy(III), Tb(III), and Ho(III)) with the hetero donor chelating ligand N'-(2-hydroxy-3-methoxybenzylidene)-6-(hydroxymethyl)picolinohydrazide (LH3) in the presence of triethylamine afforded the hexanuclear Ln(III) complexes [{Ln6(L)2(LH)2}(μ3-OH)4][MeOH]p[H2O]q[Cl]4·xH2O·yCH3OH (1, Ln = Gd(III), p = 4, q = 4, x = 8, y = 2; 2, Ln = Dy(III), p = 2, q = 6, x = 8, y = 4; 3, Ln = Tb(III), p = 2, q = 6, x = 10, y = 4; 4, Ln = Ho(III), p = 2, q = 6, x = 10, y = 2). X-ray diffraction studies revealed that these compounds possess a hexanuclear [Ln6(OH)4](14+) core consisting of four fused [Ln3(OH)](8+) subunits. Both static (dc) and dynamic (ac) magnetic properties of 1-4 have been studied. Single-molecule magnetic behavior has been observed in compound 2 with an effective energy barrier and relaxation time pre-exponential parameters of Δ/kB = 46.2 K and τ0 = 2.85 × 10(-7) s, respectively. PMID:24766539

  10. Chromosome region-specific libraries for human genome analysis

    SciTech Connect

    Kao, Fa-Ten.

    1992-08-01

    During the grant period progress has been made in the successful demonstration of regional mapping of microclones derived from microdissection libraries; successful demonstration of the feasibility of converting microclones with short inserts into yeast artificial chromosome clones with very large inserts for high resolution physical mapping of the dissected region; Successful demonstration of the usefulness of region-specific microclones to isolate region-specific cDNA clones as candidate genes to facilitate search for the crucial genes underlying genetic diseases assigned to the dissected region; and the successful construction of four region-specific microdissection libraries for human chromosome 2, including 2q35-q37, 2q33-q35, 2p23-p25 and 2p2l-p23. The 2q35-q37 library has been characterized in detail. The characterization of the other three libraries is in progress. These region-specific microdissection libraries and the unique sequence microclones derived from the libraries will be valuable resources for investigators engaged in high resolution physical mapping and isolation of disease-related genes residing in these chromosomal regions.

  11. Chromosome region-specific libraries for human genome analysis. Progress report, September 1, 1991--August 31, 1992

    SciTech Connect

    Kao, Fa-Ten

    1992-08-01

    During the grant period progress has been made in the successful demonstration of regional mapping of microclones derived from microdissection libraries; successful demonstration of the feasibility of converting microclones with short inserts into yeast artificial chromosome clones with very large inserts for high resolution physical mapping of the dissected region; Successful demonstration of the usefulness of region-specific microclones to isolate region-specific cDNA clones as candidate genes to facilitate search for the crucial genes underlying genetic diseases assigned to the dissected region; and the successful construction of four region-specific microdissection libraries for human chromosome 2, including 2q35-q37, 2q33-q35, 2p23-p25 and 2p2l-p23. The 2q35-q37 library has been characterized in detail. The characterization of the other three libraries is in progress. These region-specific microdissection libraries and the unique sequence microclones derived from the libraries will be valuable resources for investigators engaged in high resolution physical mapping and isolation of disease-related genes residing in these chromosomal regions.

  12. Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves.

    PubMed

    Wight, Jenny E; Nguyen, Viet-Huong; Medina, Marco T; Patterson, Christopher; Durón, Reyna M; Molina, Yolly; Lin, Yu-Chen; Martínez-Juárez, Iris E; Ochoa, Adriana; Jara-Prado, Aurelio; Tanaka, Miyabi; Bai, Dongsheng; Aftab, Sumaya; Bailey, Julia N; Delgado-Escueta, Antonio V

    2016-03-01

    Juvenile myoclonic epilepsy (JME), the most common genetic epilepsy, remains enigmatic because it is considered one disease instead of several diseases. We ascertained three large multigenerational/multiplex JME pedigrees from Honduras with differing JME subsyndromes, including Childhood Absence Epilepsy evolving to JME (CAE/JME; pedigree 1), JME with adolescent onset pyknoleptic absence (JME/pA; pedigree 2), and classic JME (cJME; pedigree 3). All phenotypes were validated, including symptomatic persons with various epilepsies, asymptomatic persons with EEG 3.5-6.0 Hz polyspike waves, and asymptomatic persons with normal EEGs. Two-point parametric linkage analyses were performed with 5185 single-nucleotide polymorphisms on individual pedigrees and pooled pedigrees using four diagnostic models based on epilepsy/EEG diagnoses. Haplotype analyses of the entire genome were also performed for each individual. In pedigree 1, haplotyping identified a 34 cM region in 2q21.2-q31.1 cosegregating with all affected members, an area close to 2q14.3 identified by linkage (Z max = 1.77; pedigree 1). In pedigree 2, linkage and haplotyping identified a 44 cM cosegregating region in 13q13.3-q31.2 (Z max = 3.50 at 13q31.1; pooled pedigrees). In pedigree 3, haplotyping identified a 6 cM cosegregating region in 17q12. Possible cosegregation was also identified in 13q14.2 and 1q32 in pedigree 3, although this could not be definitively confirmed due to the presence of uninformative markers in key individuals. Differing chromosome regions identified in specific JME subsyndromes may contain separate JME disease-causing genes, favoring the concept of JME as several distinct diseases. Whole-exome sequencing will likely identify a CAE/JME gene in 2q21.2-2q31.1, a JME/pA gene in 13q13.3-q31.2, and a cJME gene in 17q12. PMID:27066514

  13. Modulating the Redox Potential of the Stable Electron Acceptor, QB, in Mutagenized Photosystem II Reaction Centers.

    SciTech Connect

    Perrine, Zoee; Sayre, Richard

    2011-02-10

    One of the unique features of electron transfer processes in photosystem II (PSII) reaction centers (RC) is the exclusive transfer of electrons down only one of the two parallel cofactor branches. In contrast to the RC core polypeptides (psaA and psaB) of photosystem I (PSI), where electron transfer occurs down both parallel redox-active cofactor branches, there is greater protein-cofactor asymmetry between the PSII RC core polypeptides (D1 and D2). We have focused on the identification of protein-cofactor relationships that determine the branch along which primary charge separation occurs (P680+/pheophytin-(Pheo)). We have previously shown that mutagenesis of the strong hydrogen-bonding residue, D1-E130, to less polar residues (D1-E130Q,H,L) shifted the midpoint potential of the PheoD1/PheoD1- couple to more negative values, reducing the quantum yield of primary charge separation. We did not observe, however, electron transfer down the inactive branch in D1-E130 mutants. The protein residue corresponding to D1-E130 on the inactive branch is D2-Q129 which presumably has a reduced hydrogen-bonding interaction with PheoD2 relative to the D1-E130 residue with PheoD1. Analysis of the recent 2.9 Å cyanobacterial PSII crystal structure indicated, however, that the D2-Q129 residue was too distant from the PheoD2 headgroup to serve as a possible hydrogen bond donor and directly impact its midpoint potential as well as potentially determine the directionality of electron transfer. Our objective was to characterize the function of this highly conserved inactive branch residue by replacing it with a nonconservative leucine or a conservative histidine residue. Measurements of Chl fluorescence decay kinetics and thermoluminescence studies indicate that the mutagenesis of D2-Q129 decreases the redox gap between QA and QB due to a lowering of the redox potential of QB. The

  14. LINE1 methylation levels associated with increased bladder cancer risk in pre-diagnostic blood DNA among US (PLCO) and European (ATBC) cohort study participants.

    PubMed

    Andreotti, Gabriella; Karami, Sara; Pfeiffer, Ruth M; Hurwitz, Lauren; Liao, Linda M; Weinstein, Stephanie J; Albanes, Demetrius; Virtamo, Jarmo; Silverman, Debra T; Rothman, Nathaniel; Moore, Lee E

    2014-03-01

    Global methylation in blood DNA has been associated with bladder cancer risk in case-control studies, but has not been examined prospectively. We examined the association between LINE1 total percent 5-methylcytosine and bladder cancer risk using pre-diagnostic blood DNA from the United States-based, Prostate, Lung, Colorectal, Ovarian Cancer Screening Trial (PLCO) (299 cases/676 controls), and the Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC) cohort of Finnish male smokers (391 cases/778 controls). Logistic regression adjusted for age at blood draw, study center, pack-years of smoking, and sex was used to estimate odd ratios (ORs) and 95% confidence intervals (CIs) using study- and sex-specific methylation quartiles. In PLCO, higher, although non-significant, bladder cancer risks were observed for participants in the highest three quartiles (Q2-Q4) compared with the lowest quartile (Q1) (OR = 1.36, 95% CI: 0.96 -1.92). The association was stronger in males (Q2-Q4 vs. Q1 OR = 1.48, 95% CI: 1.00-2.20) and statistically significant among male smokers (Q2-Q4 vs. Q1 OR = 1.83, 95% CI: 1.14-2.95). No association was found among females or female smokers. Findings for male smokers were validated in ATBC (Q2-Q4 vs. Q1: OR = 2.31, 95% CI: 1.62-3.30) and a highly significant trend was observed (P = 8.7 × 10(-7)). After determining that study data could be combined, pooled analysis of PLCO and ATBC male smokers (580 cases/1119 controls), ORs were significantly higher in Q2-Q4 compared with Q1 (OR = 2.03, 95% CI: 1.52-2.72), and a trend across quartiles was observed (P = 0.0001). These findings suggest that higher global methylation levels prior to diagnosis may increase bladder cancer risk, particularly among male smokers. PMID:24316677

  15. Evidence for Three Novel QTLs for Adiposity on Chromosome 2 With Epistatic Interactions: The NHLBI Family Heart Study

    PubMed Central

    Feitosa, Mary F.; North, Kari E.; Myers, Richard H.; Pankow, James S.; Borecki, Ingrid B.

    2016-01-01

    We sought to identify quantitative trait loci (QTLs) by genome-wide linkage analysis for BMI and waist circumference (WC) exploring various strategies to address heterogeneity including covariate adjustments and complex models based on epistatic components of variance. Because cholesterol-lowering drugs and diabetes medications may affect adiposity and risk of coronary heart disease, we excluded subjects medicated for hypercholesterolemia and hyperglycemia. The evidence of linkage increased on 2p25 (BMI: lod = 1.59 vs. 2.43, WC: lod = 1.32 vs. 2.26). Because environmental and/or genetic components could mask the effect of a specific locus, we investigated further whether a QTL could influence adiposity independently of lipid pathway and dietary habits. Strong evidence of linkage on 2p25 (BMI: lod = 4.31; WC: lod = 4.23) was found using Willet’s dietary factors and lipid profile together with age and sex in adjustment. It suggests that lipid profile and dietary habits are confounding factors for detecting a 2p25 QTL for adiposity. Because evidence of linkage has been previously detected for BMI on 7q34 and 13q14 in National Heart, Lung, and Blood Institute Family Heart Study (NHLBI FHS), and for diabetes on 15q13, we investigated epistasis between chromosome 2 and these loci. Significant epistatic interactions were found between QTLs 2p25 and 7q34, 2q37 and 7q34, 2q31 and 13q14, and 2q31–q36 and 15q13. These results suggest multiple pathways and factors involving genetic and environmental effects influencing adiposity. By taking some of these known factors into account, we clarified our linkage evidence of a QTL on 2p25 influencing BMI and WC. The 2p25, 2q24–q31, and 2q36–q37 showed evidence of epistatic interaction with 7q34, 13q14, and 15q13. PMID:19521348

  16. Mars’ Low Dissipation Factor at 11-h - Interpretation from Anelasticity-Based Dissipation Model

    NASA Astrophysics Data System (ADS)

    Castillo-Rogez, Julie; Choukroun, M.

    2010-10-01

    We explore the information contained in the ratio of the tidal Love number k2 to the dissipation factor Q characterizing the response of Mars to the tides exerted by its satellite Phobos (11-h period). Assuming that Mars can be approximated as a Maxwell body, Bills et al. [1] have inferred an average viscosity of the Martian mantle 8.7x1014 Pa s. Such a low viscosity appears inconsistent with Mars’ thermal evolution and current heat budget models. Alternative explanations include the presence of partial melt in the mantle [2], or the presence of an aquifer in the crust [3]. We revisit the interpretation of Mars’ k2/Q using a laboratory-based attenuation model that accounts for material viscoelasticity and anelasticity. As a first step, we have computed Mars’ k2/Q for an interior model that includes a solid inner core, a liquid core layer, a mantle, and crust (consistent with the observed moment of inertia, and k2 measured at the orbital period), and searched for the range of mantle viscosities that can explain the observed k2/Q. Successful models are characterized by an average mantle viscosity between 1018 and 1022 Pa s, which rules out the presence of partial melt in the mantle. We can narrow down that range by performing a more detailed calculation of the mineralogy and temperature profiles. Preliminary results will be presented at the meeting. References: [1] Bills et al. (2005) JGR 110, E00704; [2] Ruedas et al. (2009 White paper to the NRC Planetary Science decadal survey; [3] Bills et al. (2009) LPS 40, 1712. MC is supported by a NASA Postdoctoral Program Fellowship, administered by Oak Ridge Associated Universities. This work has been conducted at the Jet Propulsion Laboratory, California Institute of Technology, under a contract to NASA. Government sponsorship acknowledged.

  17. Investigation of four novel male androgenetic alopecia susceptibility loci: no association with female pattern hair loss.

    PubMed

    Nuwaihyd, Rima; Redler, Silke; Heilmann, Stefanie; Drichel, Dmitriy; Wolf, Sabrina; Birch, Pattie; Dobson, Kathy; Lutz, Gerhard; Giehl, Kathrin A; Kruse, Roland; Tazi-Ahnini, Rachid; Hanneken, Sandra; Böhm, Markus; Miesel, Anja; Fischer, Tobias; Wolff, Hans; Becker, Tim; Garcia-Bartels, Natalie; Blume-Peytavi, Ulrike; Nöthen, Markus M; Messenger, Andrew G; Betz, Regina C

    2014-05-01

    Female pattern hair loss (FPHL) is a common hair loss disorder in women and has a complex mode of inheritance. The etiopathogenesis of FPHL is largely unknown; however, it is hypothesized that FPHL and male pattern baldness [androgenetic alopecia (AGA)] share common genetic susceptibility alleles. Our recent findings indicate that the major AGA locus, an X-chromosome region containing the androgen receptor and the ectodysplasin A2 receptor (EDA2R) genes, may represent a common genetic factor underlying both early-onset FPHL and AGA. This gives further support for the widespread assumption of shared susceptibility loci for FPHL and AGA. However, we could not demonstrate association of further AGA risk loci, including 20p11, 1p36.22, 2q37.3, 7p21.1, 7q11.22, 17q21.31, and 18q21.1, with FPHL. Interestingly, a recent study identified four novel AGA risk loci in chromosomal regions 2q35, 3q25.1, 5q33.3, and 12p12.1. In particular, the 2q35 locus and its gene WNT10A point to an as-yet unknown involvement of the WNT signaling pathway in AGA. We hypothesized that the novel loci and thus also the WNT signaling may have a role in the etiopathogenesis of FPHL and therefore examined the role of these novel AGA risk loci in our FPHL samples comprising 440 German and 145 UK affected patients, 500 German unselected controls (blood donors), and 179 UK supercontrols. Patients and controls were genotyped for the top two single nucleotide polymorphisms at each of the four AGA loci. However, none of the genotyped variants displayed any significant association. In conclusion, the results of this study provide no support for the hypothesis that the novel AGA loci influence susceptibility to FPHL. PMID:24352509

  18. A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.

    PubMed

    Morandi, Anita; Bonnefond, Amélie; Lobbens, Stéphane; Carotenuto, Marco; Del Giudice, Emanuele Miraglia; Froguel, Philippe; Maffeis, Claudio

    2015-11-01

    The Prader-Willi syndrome (PWS) is caused by lack of expression of paternal allele of the 15q11.2-q13 region, due to deletions at paternal 15q11.2-q13 (<70%), maternal uniparental disomy of chromosome 15 (mat-UPD 15) (30%) or imprinting defects (1%). Hyperphagia, intellectual disabilities/behavioral disorders, neonatal hypotonia, and hypogonadism are cardinal features for PWS. Methylation sensitive PCR (MS-PCR) of the SNRPN locus, which assesses the presence of both the unmethylated (paternal) and the methylated (maternal) allele of 15q11.2-q13, is considered a sensitive reference technique for PWS diagnosis regardless of genetic subtype. We describe a 17-year-old girl with severe obesity, short stature, and intellectual disability, without hypogonadism and history of neonatal hypotonia, who was suspected to have an incomplete PWS. The MS-PCR showed a normal pattern with similar maternal and paternal electrophoretic bands. Afterwards, a SNP array showed the presence of iso-UPD 15, that is, UPD15 with two copies of the same chromosome 15, in about 50% of cells, suggesting a diagnosis of partial PWS due to mosaic maternal iso-UPD15 arisen as rescue of a post-fertilization error. A quantitative methylation analysis confirmed the presence of mosaic UPD15 in about 50% of cells. We propose that complete clinical criteria for PWS and MS-PCR should not be considered sensitive in suspecting and diagnosing partial PWS due to mosaic UPD15. In contrast, clinical suspicion based on less restrictive criteria followed by SNP array is a more powerful approach to diagnose atypical PWS due to UPD15 mosaicism. PMID:26109092

  19. Large-scale polymorphism near the ends of several human chromosomes analyzed by using fluorescence in situ hybridization (FISH)

    SciTech Connect

    Trask, B.J.; Friedman, C.; Giorgi, D.

    1994-09-01

    We have discovered a large DNA segment that is polymorphically present at the ends of several human chromosomes. The segment, f7501, was originally derived form a human chromosome 19-specific cosmid library. FISH was used to determine the cosmid`s chromosomal distribution on 44 unrelated humans and several closely related primates. The human subjects represent a diversity of reproductively isolated ethnic populations. FISH analysis revealed that sequences highly homologous to the cosmid`s insert are present on both homologs at 3q, 15q,. and 19p in almost all individuals (88, 85, and 87 of 88 homologs, respectively). Other chromosomes sites were labeled much more rarely in the sampled individuals. For example, 56 of the 88 analyzed chromosomes 11 were labeled (18+/+, 6-/-, and 20+/- individuals). In contrast, 2q was labeled on only 1/88 sampled chromosomes. The termini of 2q, 5q, 6p, 6q, 7p, 8p, 9p, 9q, 11p, 12q, 16p, 19q, and 20q and an interstitial site at 2q13-14 were labeled in at least one individual of the set. EcoR1-fragments derived from the cosmid showed the same hybridization pattern as the entire cosmid, indicating that at least 40 kbp is shared by these chromosome ends. Ethnic differences in the allele frequency of these polymorphic variants was observed. For example, signals were observed on 8/10 and 7/10 of the chromosomes 7p and 16q, respectively, derived form Biakan Pygmies, but these sites were infrequently labeled in non-Pygmy human populations (2/68, respectively). This region has undergone significant changes in chromosome location during human evolution. Strong signal was seen on chimpanzee and gorilla chromosome 3, which is homologous to human chromosome 4, a chromosome unlabeled in any of the humans we have analyzed.

  20. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.

    PubMed

    Broeks, Annegien; Schmidt, Marjanka K; Sherman, Mark E; Couch, Fergus J; Hopper, John L; Dite, Gillian S; Apicella, Carmel; Smith, Letitia D; Hammet, Fleur; Southey, Melissa C; Van 't Veer, Laura J; de Groot, Renate; Smit, Vincent T H B M; Fasching, Peter A; Beckmann, Matthias W; Jud, Sebastian; Ekici, Arif B; Hartmann, Arndt; Hein, Alexander; Schulz-Wendtland, Ruediger; Burwinkel, Barbara; Marme, Frederik; Schneeweiss, Andreas; Sinn, Hans-Peter; Sohn, Christof; Tchatchou, Sandrine; Bojesen, Stig E; Nordestgaard, Børge G; Flyger, Henrik; Ørsted, David D; Kaur-Knudsen, Diljit; Milne, Roger L; Pérez, Jose I Arias; Zamora, Pilar; Rodríguez, Primitiva Menéndez; Benítez, Javier; Brauch, Hiltrud; Justenhoven, Christina; Ko, Yon-Dschun; Hamann, Ute; Fischer, Hans-Peter; Brüning, Thomas; Pesch, Beate; Chang-Claude, Jenny; Wang-Gohrke, Shan; Bremer, Michael; Karstens, Johann H; Hillemanns, Peter; Dörk, Thilo; Nevanlinna, Heli A; Heikkinen, Tuomas; Heikkilä, Päivi; Blomqvist, Carl; Aittomäki, Kristiina; Aaltonen, Kirsimari; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kosma, Veli-Matti; Kauppinen, Jaana M; Kataja, Vesa; Auvinen, Päivi; Eskelinen, Matti; Soini, Ylermi; Chenevix-Trench, Georgia; Spurdle, Amanda B; Beesley, Jonathan; Chen, Xiaoqing; Holland, Helene; Lambrechts, Diether; Claes, Bart; Vandorpe, Thijs; Neven, Patrick; Wildiers, Hans; Flesch-Janys, Dieter; Hein, Rebecca; Löning, Thomas; Kosel, Matthew; Fredericksen, Zachary S; Wang, Xianshu; Giles, Graham G; Baglietto, Laura; Severi, Gianluca; McLean, Catriona; Haiman, Christopher A; Henderson, Brian E; Le Marchand, Loic; Kolonel, Laurence N; Alnæs, Grethe Grenaker; Kristensen, Vessela; Børresen-Dale, Anne-Lise; Hunter, David J; Hankinson, Susan E; Andrulis, Irene L; Mulligan, Anna Marie; O'Malley, Frances P; Devilee, Peter; Huijts, Petra E A; Tollenaar, Rob A E M; Van Asperen, Christi J; Seynaeve, Caroline S; Chanock, Stephen J; Lissowska, Jolanta; Brinton, Louise; Peplonska, Beata; Figueroa, Jonine; Yang, Xiaohong R; Hooning, Maartje J; Hollestelle, Antoinette; Oldenburg, Rogier A; Jager, Agnes; Kriege, Mieke; Ozturk, Bahar; van Leenders, Geert J L H; Hall, Per; Czene, Kamila; Humphreys, Keith; Liu, Jianjun; Cox, Angela; Connley, Daniel; Cramp, Helen E; Cross, Simon S; Balasubramanian, Sabapathy P; Reed, Malcolm W R; Dunning, Alison M; Easton, Douglas F; Humphreys, Manjeet K; Caldas, Carlos; Blows, Fiona; Driver, Kristy; Provenzano, Elena; Lubinski, Jan; Jakubowska, Anna; Huzarski, Tomasz; Byrski, Tomasz; Cybulski, Cezary; Gorski, Bohdan; Gronwald, Jacek; Brennan, Paul; Sangrajrang, Suleeporn; Gaborieau, Valerie; Shen, Chen-Yang; Hsiung, Chia-Ni; Yu, Jyh-Cherng; Chen, Shou-Tung; Hsu, Giu-Cheng; Hou, Ming-Feng; Huang, Chiun-Sheng; Anton-Culver, Hoda; Ziogas, Argyrios; Pharoah, Paul D P; Garcia-Closas, Montserrat

    2011-08-15

    Breast cancers demonstrate substantial biological, clinical and etiological heterogeneity. We investigated breast cancer risk associations of eight susceptibility loci identified in GWAS and two putative susceptibility loci in candidate genes in relation to specific breast tumor subtypes. Subtypes were defined by five markers (ER, PR, HER2, CK5/6, EGFR) and other pathological and clinical features. Analyses included up to 30 040 invasive breast cancer cases and 53 692 controls from 31 studies within the Breast Cancer Association Consortium. We confirmed previous reports of stronger associations with ER+ than ER- tumors for six of the eight loci identified in GWAS: rs2981582 (10q26) (P-heterogeneity = 6.1 × 10(-18)), rs3803662 (16q12) (P = 3.7 × 10(-5)), rs13281615 (8q24) (P = 0.002), rs13387042 (2q35) (P = 0.006), rs4973768 (3p24) (P = 0.003) and rs6504950 (17q23) (P = 0.002). The two candidate loci, CASP8 (rs1045485, rs17468277) and TGFB1 (rs1982073), were most strongly related with the risk of PR negative tumors (P = 5.1 × 10(-6) and P = 4.1 × 10(-4), respectively), as previously suggested. Four of the eight loci identified in GWAS were associated with triple negative tumors (P ≤ 0.016): rs3803662 (16q12), rs889312 (5q11), rs3817198 (11p15) and rs13387042 (2q35); however, only two of them (16q12 and 2q35) were associated with tumors with the core basal phenotype (P ≤ 0.002). These analyses are consistent with different biological origins of breast cancers, and indicate that tumor stratification might help in the identification and characterization of novel risk factors for breast cancer subtypes. This may eventually result in further improvements in prevention, early detection and treatment. PMID:21596841

  1. Thermodynamic and kinetic considerations for the reaction of semiquinone radicals to form superoxide and hydrogen peroxide

    PubMed Central

    Song, Yang; Buettner, Garry R.

    2010-01-01

    The quinone/semiquinone/hydroquinone triad (Q/SQ•−/H2Q) represents a class of compounds that has great importance in a wide range of biological processes. The half-cell reduction potentials of these redox couples in aqueous solutions at neutral pH, E°′, provide a window to understanding the thermodynamic and kinetic characteristics of this triad and their associated chemistry and biochemistry in vivo. Substituents on the quinone ring can significantly influence the electron density “on the ring” and thus modify E°′ dramatically. E°′ of the quinone governs the reaction of semiquinone with dioxygen to form superoxide. At near-neutral pH the pKa's of the hydroquinone are outstanding indicators of the electron density in the aromatic ring of the members of these triads (electrophilicity) and thus are excellent tools to predict half-cell reduction potentials for both the one-electron and two-electron couples, which in turn allow estimates of rate constants for the reactions of these triads. For example, the higher the pKa's of H2Q, the lower the reduction potentials and the higher the rate constants for the reaction of SQ•− with dioxygen to form superoxide. However, hydroquinone autoxidation is controlled by the concentration of di-ionized hydroquinone; thus, the lower the pKa's the less stable H2Q to autoxidation. Catalysts, e.g., metals and quinone, can accelerate oxidation processes; by removing superoxide and increasing the rate of formation of quinone, superoxide dismutase can accelerate oxidation of hydroquinones and thereby increase the flux of hydrogen peroxide. The principal reactions of quinones are with nucleophiles via Michael addition, for example, with thiols and amines. The rate constants for these addition reactions are also related to E°′. Thus, pKa's of a hydroquinone and E°′ are central to the chemistry of these triads. PMID:20493944

  2. Laminar and turbulent incompressible fluid flow analysis with heat transfer by the finite element method

    SciTech Connect

    Cochran, R.J.

    1992-01-01

    A study of the finite element method applied to two-dimensional incompressible fluid flow analysis with heat transfer is performed using a mixed Galerkin finite element method with the primitive variable form of the model equations. Four biquadratic, quadrilateral elements are compared in this study--the serendipity biquadratic element with bilinear continuous pressure interpolation (Q2(8)-Q1) and the Lagrangian biquadratic element with bilinear continuous pressure interpolation (Q2-Q1) of the Taylor-Hood form. A modified form of the Q2-Q1 element is also studied. The pressure interpolation is augmented by a discontinuous constant shape function for pressure (Q2-Q1+). The discontinuous pressure element formulation makes use of biquadratic shape functions and a discontinuous linear interpolation of the pressure (Q2-P1(3)). Laminar flow solutions, with heat transfer, are compared to analytical and computational benchmarks for flat channel, backward-facing step and buoyancy driven flow in a square cavity. It is shown that the discontinuous pressure elements provide superior solution characteristics over the continuous pressure elements. Highly accurate heat transfer solutions are obtained and the Q2-P1(3) element is chosen for extension to turbulent flow simulations. Turbulent flow solutions are presented for both low turbulence Reynolds number and high Reynolds number formulations of two-equation turbulence models. The following three forms of the length scale transport equation are studied; the turbulence energy dissipation rate ([var epsilon]), the turbulence frequency ([omega]) and the turbulence time scale (tau). It is shown that the low turbulence Reynolds number model consisting of the K - [tau] transport equations, coupled with the damping functions of Shih and Hsu, provides an optimal combination of numerical stability and solution accuracy for the flat channel flow.

  3. Complex formation between neptunium(V) and various thiosemicarbazide derivatives in aqueous solution

    SciTech Connect

    Chuguryan, D.G.; Dzyubenko, V.I.; Gerbeleu, N.V.

    1987-01-01

    Complex formation between neptunium(V) and various thiosemicarbazide derivatives in solution has been studied spectrophotometrically in the pH range 4-10. Stepwise formation of three types of complexes, with composition NpO/sub 2/HA, NpO/sub 2/A/sup -/, and NpOHA/sup 2 -/, has been demonstrated with salicylaldehyde thiosemicarbazone (H/sub 2/L) and salicylaldehyde S-methyl-isothiosemicarbazone (H/sub 2/Q) at t = 25 +/- 1/sup 0/C and ..mu.. = 0.05. The logarithmic stability constants of the first two complexes are 5.14 +/- 0.06, 11.85 +/- 0.04 and 8.42 +/- 0.09, 13.33 +/- 0.015 for H/sub 2/L and H/sub 2/Q, respectively; equilibrium constants for the formation of hydroxo complexes of the form NpO/sub 2/OHL/sup 2 -/ and NpO/sub 2/OHQ/sup 2 -/ were also determined, and found to be equal to (2.23 +/-0.37) x 10/sup -5/ and (5.02 +/- 0.9) x 10/sup -5/, respectively. In the case of S-methyl-N/sub 1/,N/sub 4/-bis(salicylidene)isothiosemicarbazide (H/sub 2/Z), only one type of complex is formed under these experimental conditions, namely, NpO/sub 2/Z/sup -/, with a logarithmic stability constant of 4.78 +/- 0.03. Dissociation constants for H/sub 2/Q and H/sub 2/Z were also determined.

  4. Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease

    PubMed Central

    Smyth, Deborah J; Plagnol, Vincent; Walker, Neil M; Cooper, Jason D; Downes, Kate; Yang, Jennie HM; Howson, Joanna MM; Stevens, Helen; McManus, Ross; Wijmenga, Cisca; Heap, Graham A.; Dubois, Patrick C.; Clayton, David G.; Hunt, Karen A; van Heel, David A; Todd, John A

    2009-01-01

    BACKGROUND The inflammatory disorders type 1 diabetes (T1D) and celiac disease co-segregate in populations, suggesting a common genetic origin. Both are associated with the HLA class II genes on chromosome 6p21, and the present paper tested whether non-HLA loci are shared. METHODS We evaluated eight celiac disease risk loci in T1D by genotyping and statistical analyses of 8,064 T1D cases, 9,339 controls and 2,519 families. We also investigated 18 T1D loci in 2,560 celiac disease cases and 9,339 controls. RESULTS Three celiac disease loci, listed as chromosome/candidate gene: 1q31/RGS1, 2q12/IL18RAP and 6q25/TAGAP, were associated with T1D (P < 10−4). The 3p21/CCR5 32 base pair insertion/deletion variant was newly identified as a T1D locus (P = 1.81 × 10−8), and was also associated with celiac disease, as were 18p11/PTPN2 and 2q33/CTLA4, bringing the total loci shared to seven, including 12q24/SH2B3. The 2q12/IL18RAP and 6q25/TAGAP allele associations were in the opposite direction in T1D as compared to celiac disease. Distinct effects included 11p15/INS, 10p15/IL2RA and 1q13/PTPN22 in T1D and 3q25/IL12A and 3q28/LPP in celiac disease. CONCLUSIONS Genetic susceptibility to T1D and celiac disease shares common alleles. These data suggest that common biological mechanisms, such as autoimmunity related tissue damage and intolerance to dietary antigens may be a feature of T1D. PMID:19073967

  5. Partial trisomy 5q resulting from chromosome 7 insertion: An expansion of the phenotype

    SciTech Connect

    Fries, M.H.; Reilly, P.A.; Williams, T.C.

    1994-09-01

    Partial trisomy 5q has been categorized into three separate phenotypes; however, a distinctive phenotype has not been described for duplications spanning 5q23-q35. We report a case of partial trisomy 5q for this region as a result of a ins(7,5)(q31.3;q23.2q35.1)mat. The liveborn male infant was delivered by emergency cesarean section at 37 weeks after a pregnancy notable for oligohydramnios, with birth weight 1792 g (<3%). Postnatal course was marked by psychomotor delay, failure to thrive, and biopsy demonstrated neonatal giant cell hepatitis with a paucity of intrahepatic bile ducts. His appearance was remarkable for lack of subcutaneous fat, midline displaced hair whorl, bitemporal narrowing with frontal bossing, wide anterior fontanel, widow`s peak, protuberant eyes with periorbital and lid edema, short flat nasal bridge with broad flattened nasal tip, long smooth philtrum, wide mouth with thin lips, wide gingival ridges, micrognathia, posteriorly rotated low-set ears, hepatomegaly, flexion contractions of elbows, and generalized hypertonicity. Urine organic acids, oligosaccharide/mucopolysaccharide screen, and plasma amino acids were negative. GTG-banding on prometaphase chromosomes showed an unbalanced translocation involving chr. 7. This was identified as an insertion of chr. 5 (q23.2q35.1) into distal 7q after FISH using chr. 5 and chr. 7 painting probes. The infant`s mother carries the balanced insertional rearrangement: 46,XX,dir ins(7,5)(q31.3;q23.2q35.1). This phenotype overlaps that of previously described duplications with the addition of giant cell hepatitis, coarsened facial features, gingival thickening, and flexion contractures, suggestive of a yet undiagnosed storage disorder.

  6. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

    PubMed Central

    Broeks, Annegien; Schmidt, Marjanka K.; Sherman, Mark E.; Couch, Fergus J.; Hopper, John L.; Dite, Gillian S.; Apicella, Carmel; Smith, Letitia D.; Hammet, Fleur; Southey, Melissa C.; Van ’t Veer, Laura J.; de Groot, Renate; Smit, Vincent T.H.B.M.; Fasching, Peter A.; Beckmann, Matthias W.; Jud, Sebastian; Ekici, Arif B.; Hartmann, Arndt; Hein, Alexander; Schulz-Wendtland, Ruediger; Burwinkel, Barbara; Marme, Frederik; Schneeweiss, Andreas; Sinn, Hans-Peter; Sohn, Christof; Tchatchou, Sandrine; Bojesen, Stig E.; Nordestgaard, Børge G.; Flyger, Henrik; Ørsted, David D.; Kaur-Knudsen, Diljit; Milne, Roger L.; Pérez, Jose I. Arias; Zamora, Pilar; Rodríguez, Primitiva Menéndez; Benítez, Javier; Brauch, Hiltrud; Justenhoven, Christina; Ko, Yon-Dschun; Hamann, Ute; Fischer, Hans-Peter; Brüning, Thomas; Pesch, Beate; Chang-Claude, Jenny; Wang-Gohrke, Shan; Bremer, Michael; Karstens, Johann H.; Hillemanns, Peter; Dörk, Thilo; Nevanlinna, Heli A.; Heikkinen, Tuomas; Heikkilä, Päivi; Blomqvist, Carl; Aittomäki, Kristiina; Aaltonen, Kirsimari; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kosma, Veli-Matti; Kauppinen, Jaana M.; Kataja, Vesa; Auvinen, Päivi; Eskelinen, Matti; Soini, Ylermi; Chenevix-Trench, Georgia; Spurdle, Amanda B.; Beesley, Jonathan; Chen, Xiaoqing; Holland, Helene; Lambrechts, Diether; Claes, Bart; Vandorpe, Thijs; Neven, Patrick; Wildiers, Hans; Flesch-Janys, Dieter; Hein, Rebecca; Löning, Thomas; Kosel, Matthew; Fredericksen, Zachary S.; Wang, Xianshu; Giles, Graham G.; Baglietto, Laura; Severi, Gianluca; McLean, Catriona; Haiman, Christopher A.; Henderson, Brian E.; Le Marchand, Loic; Kolonel, Laurence N.; Grenaker Alnæs, Grethe; Kristensen, Vessela; Børresen-Dale, Anne-Lise; Hunter, David J.; Hankinson, Susan E.; Andrulis, Irene L.; Marie Mulligan, Anna; O'Malley, Frances P.; Devilee, Peter; Huijts, Petra E.A.; Tollenaar, Rob A.E.M.; Van Asperen, Christi J.; Seynaeve, Caroline S.; Chanock, Stephen J.; Lissowska, Jolanta; Brinton, Louise; Peplonska, Beata; Figueroa, Jonine; Yang, Xiaohong R.; Hooning, Maartje J.; Hollestelle, Antoinette; Oldenburg, Rogier A.; Jager, Agnes; Kriege, Mieke; Ozturk, Bahar; van Leenders, Geert J.L.H.; Hall, Per; Czene, Kamila; Humphreys, Keith; Liu, Jianjun; Cox, Angela; Connley, Daniel; Cramp, Helen E.; Cross, Simon S.; Balasubramanian, Sabapathy P.; Reed, Malcolm W.R.; Dunning, Alison M.; Easton, Douglas F.; Humphreys, Manjeet K.; Caldas, Carlos; Blows, Fiona; Driver, Kristy; Provenzano, Elena; Lubinski, Jan; Jakubowska, Anna; Huzarski, Tomasz; Byrski, Tomasz; Cybulski, Cezary; Gorski, Bohdan; Gronwald, Jacek; Brennan, Paul; Sangrajrang, Suleeporn; Gaborieau, Valerie; Shen, Chen-Yang; Hsiung, Chia-Ni; Yu, Jyh-Cherng; Chen, Shou-Tung; Hsu, Giu-Cheng; Hou, Ming-Feng; Huang, Chiun-Sheng; Anton-Culver, Hoda; Ziogas, Argyrios; Pharoah, Paul D.P.; Garcia-Closas, Montserrat

    2011-01-01

    Breast cancers demonstrate substantial biological, clinical and etiological heterogeneity. We investigated breast cancer risk associations of eight susceptibility loci identified in GWAS and two putative susceptibility loci in candidate genes in relation to specific breast tumor subtypes. Subtypes were defined by five markers (ER, PR, HER2, CK5/6, EGFR) and other pathological and clinical features. Analyses included up to 30 040 invasive breast cancer cases and 53 692 controls from 31 studies within the Breast Cancer Association Consortium. We confirmed previous reports of stronger associations with ER+ than ER− tumors for six of the eight loci identified in GWAS: rs2981582 (10q26) (P-heterogeneity = 6.1 × 10−18), rs3803662 (16q12) (P = 3.7 × 10−5), rs13281615 (8q24) (P = 0.002), rs13387042 (2q35) (P = 0.006), rs4973768 (3p24) (P = 0.003) and rs6504950 (17q23) (P = 0.002). The two candidate loci, CASP8 (rs1045485, rs17468277) and TGFB1 (rs1982073), were most strongly related with the risk of PR negative tumors (P = 5.1 × 10−6 and P = 4.1 × 10−4, respectively), as previously suggested. Four of the eight loci identified in GWAS were associated with triple negative tumors (P ≤ 0.016): rs3803662 (16q12), rs889312 (5q11), rs3817198 (11p15) and rs13387042 (2q35); however, only two of them (16q12 and 2q35) were associated with tumors with the core basal phenotype (P ≤ 0.002). These analyses are consistent with different biological origins of breast cancers, and indicate that tumor stratification might help in the identification and characterization of novel risk factors for breast cancer subtypes. This may eventually result in further improvements in prevention, early detection and treatment. PMID:21596841

  7. Design and Participant Characteristics of a Randomized-Controlled Trial of Telemedicine for Smoking Cessation among Rural Smokers

    PubMed Central

    Mussulman, Laura; Ellerbeck, Edward F.; Cupertino, Paula; Preacher, Kristopher J.; Spaulding, Ryan; Catley, Delwyn; Cox, Lisa Sanderson; Lambart, Leah; Hunt, Jamie J.; Nazir, Niaman; Shireman, Theresa; Richter, Kimber P.

    2014-01-01

    Introduction In rural America cigarette smoking is prevalent, few cessation services are available, and healthcare providers lack the time and resources to help smokers quit. This paper describes the design and participant characteristics of Connect2Quit (C2Q), a randomized control trial (RCT) that tests the effectiveness and cost-effectiveness of integrated telemedicine counseling delivered by 2-way webcams mounted on desktop computers in participant's physician office examining rooms (ITM) versus quitline counseling delivered by telephone in participant's homes (Phone) for helping rural smokers quit. Methods/Design C2Q was implemented in twenty primary care and safety net clinics. Integrated Telemedicine consisted of real-time video counseling, delivered to patients in their primary care physician's (PCP) office. Phone counseling, was delivered to patients in their homes. All participants received educational materials and guidance in selecting cessation medications. Results The 566 participants were predominantly Caucasian (92%); 9% were Latino. Most (65%) earned < 200% of federal poverty level. One out of three lacked home internet access, 40% were not comfortable using computers, and only 4% had been seen by a doctor via telemedicine in the past. Hypertension, chronic lung disease, and diabetes were highly prevalent. Participants smoked nearly a pack a day and were highly motivated to quit. Discussion C2Q is reaching a rural low-income population, with comorbid chronic diseases, that would benefit greatly from quitting smoking. ITM is a good delivery model, which integrates care by holding counseling sessions in the patient's PCP office and keeps the primary care team updated on patients’ progress. PMID:24768940

  8. The Attenuated Live Yellow Fever Virus 17D Infects the Thymus and Induces Thymic Transcriptional Modifications of Immunomodulatory Genes in C57BL/6 and BALB/C Mice

    PubMed Central

    Melo-Lima, Breno Luiz; Espósito, Danillo Lucas Alves; da Fonseca, Benedito Antônio Lopes; Figueiredo, Luiz Tadeu Moraes; Moreau, Philippe; Donadi, Eduardo Antonio

    2015-01-01

    Thymus is involved in induction of self-tolerance in T lymphocytes, particularly due to Aire activity. In peripheral tissues, Treg cells and immunomodulatory molecules, like the major histocompatibility complex (MHC) class Ib molecules, are essential for maintenance of autotolerance during immune responses. Viral infections can trigger autoimmunity and modify thymic function, and YFV17D immunization has been associated with the onset of autoimmunity, being contraindicated in patients with thymic disorders. Aiming to study the influence of YFV17D immunization on the transcriptional profiles of immunomodulatory genes in thymus, we evaluated the gene expression of AIRE, FOXP3, H2-Q7 (Qa-2/HLA-G), H2-T23 (Qa-1/HLA-E), H2-Q10, and H2-K1 following immunization with 10,000 LD50 of YFV17D in C57BL/6 and BALB/c mice. The YFV17D virus replicated in thymus and induced the expression of H2-Q7 (Qa-2/HLA-G) and H2-T23 (Qa-1/HLA-E) transcripts and repressed the expression of AIRE and FOXP3. Transcriptional expression varied according to tissue and mouse strain analyzed. Expression of H2-T23 (Qa-1/HLA-E) and FOXP3 was induced in thymus and liver of C57BL/6 mice, which exhibited defective control of viral load, suggesting a higher susceptibility to YFV17D infection. Since the immunization with YFV17D modulated thymus gene expression in genetically predisposed individuals, the vaccine may be related to the onset of autoimmunity disorders. PMID:26457200

  9. Observation of an Unusual Electronically Distorted Semiquinone Radical of PCB Metabolites in the Active Site of Prostaglandin H Synthase-2

    PubMed Central

    Wangpradit, Orarat; Moman, Edelmiro; Nolan, Kevin B.; Buettner, Garry R.; Robertson, Larry W.; Luthe, Gregor

    2013-01-01

    The activation of the metabolites of airborne polychlorinated biphenyls (PCBs) into highly reactive radicals is of fundamental importance. We found that human recombinant prostaglandin H synthase-2 (hPGHS-2) biotransforms dihydroxy-PCBs, such as 4-chlorobiphenyl-2′,5′-hydroquinone (4-CB-2′,5′H2Q), into semiquinone radicals via one-electron oxidation. Using electron paramagnetic resonance (EPR) spectroscopy, we observed the formation of the symmetric quartet spectrum (1:3:3:1 by area) of 4-chlorobiphenyl-2′,5′-semiquinone radical (4-CB-2′,5′-SQ•−) from 4-CB-2′,5′H2Q. This spectrum changed to an asymmetric spectrum with time: the change can be explained as the overlap of two different semiquinone radical species. Hindered rotation of the 4-CB-2′,5′-SQ•− appears not to be a major factor for the change in lineshape because increasing the viscosity of the medium with glycerol produced no significant change in lineshape. Introduction of a fluorine, which increases the steric hindrance for rotation of the dihydroxy-PCB studied, also produced no significant changes. An in silico molecular docking model of 4-CB-2′,5′H2Q in the peroxidase site of hPGHS-2 together with ab initio quantum mechanical studies indicate that the close proximity of a negatively charged carboxylic acid in the peroxidase active site may be responsible for the observed perturbation in the spectrum. This study provides new insights into the formation of semiquinones from PCB metabolites and underscores the potential role of PGHS-2 in the metabolic activation of PCBs. PMID:20843536

  10. Quantitative determination of enzyme activity in single cells by scanning microelectrode coupled with a nitrocellulose film-covered microreactor by means of a scanning electrochemical microscope.

    PubMed

    Zhang, Xiaoli; Sun, Fuchan; Peng, Xuewei; Jin, Wenrui

    2007-02-01

    An electrochemical method for quantitative determination of enzyme activity in single cells was developed by scanning a microelectrode (ME) over a nitrocellulose film-covered microreactor with micropores by means of a scanning electrochemical microscope (SECM). Peroxidase (PO) in neutrophils was chosen as the model system. The microreactor consisted of a microwell with a solution and a nitrocellulose film with micropores. A single cell perforated by digitonin was injected into the microwell. After the perforated cell was lysed and allowed to dry, physiological buffer saline (PBS) containing hydroquinone (H2Q) and H2O2 as substrates of the enzyme-catalyzed reaction was added in the microwell. The microwell containing the extract of the lysed cell and the enzyme substrates was covered with Parafilm to prevent evaporation. The solution in the microwell was incubated for 20 min. In this case, the released PO from the cell converted H2Q into benzoquinone (BQ). Then, the Parafilm was replaced by a nitrocellulose film with micropores to fabricate the microreactor. The microreactor was placed in an electrochemical cell containing PBS, H2Q, and H2O2. After a 10-microm-radius Au ME was inserted into the electrochemical cell and approached down to the microreactor, the ME was scanned along the central line across the microreactor by means of a SECM. The scan curve with a peak was obtained by detecting BQ that diffused out from the microreactor through the micropores on the nitrocellulose film. PO activity could be quantified on the basis of the peak current on the scan curve using a calibration curve. This method had two obvious advantages: no electrode fouling and no oxygen interference. PMID:17263362

  11. Endothelial Cell Whole Genome Expression Analysis in a Mouse Model of Early-Onset Fuchs' Endothelial Corneal Dystrophy

    PubMed Central

    Matthaei, Mario; Hu, Jianfei; Meng, Huan; Lackner, Eva-Maria; Eberhart, Charles G.; Qian, Jiang; Hao, Haiping; Jun, Albert S.

    2013-01-01

    Purpose. To investigate the endothelial gene expression profile in a Col8a2 Q455K mutant knock-in mouse model of early-onset Fuchs' endothelial corneal dystrophy (FECD) and identify potential targets that can be correlated to human late-onset FECD. Methods. Diseased or normal endothelial phenotypes were verified in 12-month-old homozygous Col8a2Q455K/Q455K mutant and wild-type mice by clinical confocal microscopy. An endothelial whole genome expression profile was generated by microarray-based analysis. Result validation was performed by real-time PCR. Endothelial COX2 and JUN expression was further studied in human late-onset FECD compared to normal samples. Results. Microarray analysis demonstrated endothelial expression of 24,538 genes (162 up-regulated and 172 down-regulated targets) and identified affected gene ontology terms including Response to Stress, Protein Metabolic Process, Protein Folding, Regulation of Apoptosis, and Transporter Activity. Real-time PCR assessment confirmed increased Cox2 (P = 0.001) and Jun mRNA (P = 0.03) levels in Col8a2Q455K/Q455K mutant compared to wild-type mice. In human FECD samples, real-time PCR demonstrated a statistically significant increase in COX2 mRNA (P < 0.0001) and JUN mRNA (P = 0.002) and tissue microarray analysis showed increased endothelial COX2 (P = 0.02) and JUN protein (P = 0.04). Conclusions. The present study provides the first endothelial whole genome expression analysis in an animal model of FECD and represents a useful resource for future studies of the disease. In particular endothelial COX2 up-regulation warrants further investigation of its role in FECD. PMID:23449721

  12. Identity-by-descent approaches identify regions of importance for genetic susceptibility to hereditary esophageal squamous cell carcinoma.

    PubMed

    Ko, Josephine My; Zhang, Peng; Law, Simon; Fan, Yanhui; Song, You-Qiang; Zhao, Xue Ke; Wong, Elibe H W; Tang, Sa; Song, Xin; Lung, Maria Li; Wang, Li Dong

    2014-08-01

    Worldwide, the highest prevalence of esophageal cancer (EC) occurs in Northern China. High-density SNP arrays allow identification of identity-by-descent (IBD) segments in genomic DNAs representative of shared common ancestral regions. We utilized IBD approaches to map susceptibility loci associated with low-penetrance SNPs in high-risk Henan hereditary esophageal squamous cell carcinoma (ESCC) patients. Affymetrix GeneChip Human mapping SNP array IBD analysis was performed in 32 Henan family history-positive (FH+) ESCC patients, 18 Henan healthy unrelated individuals, and 45 Chinese individuals from a CHB HapMap dataset using PLink (scoring IBD segments individually) and Beagle (scoring of shared IBD segments among case/case vs. control/control pairs) software. Both analyses identified longer IBD segment lengths associated with FH+ ESCC compared to controls. However, there was no strong evidence for a genetic founder effect. Pairing IBD analysis with BEAGLE identified 8 critical IBD segments residing at 2q32.1-q32.2, 3p22.3-p22.2, 4q21.1-q21.21, 7p22.2, 8q23.2-q23.3, 10q23.33-q24.1, 14q24.3 and 16q11.2-q12.1, which were more significantly shared among case/case compared to control/control. The shared IBD segments in FH+ ESCC samples with no overlap with control/CHB Hapmap may encompass potential cancer susceptibility loci. Selected targeted genes, PLCE1, GPT2, SIAH1 and CYP2C-18, residing within the IBD segments at 10q23.33-q24.1 and 16q11.2-q12.1, had statistically significant differential expression in primary ESCC tissues and are likely involved in ESCC carcinogenesis. The importance of these IBD segments to the etiology and development of ESCC in high-risk areas requires further study with expanded sample sizes. This is the first report employing the pairing IBD approach for elucidation of the genetic basis of hereditary ESCC in Henan by applying high throughput SNP array analysis. PMID:24890309

  13. Transversity, Transversity-Odd Distributions and Asymmetries in DRELL-YAN Processes

    NASA Astrophysics Data System (ADS)

    Goldstein, Gary R.; Gamberg, L. P.

    After a brief recap of Transversity it is noted that Drell-Yan unpolarized processes display large azimuthal asymmetries. One such asymmetry, cos(2π), is directly related to the leading twist transversity distribution h⊥1(x, kT). We use a model developed for semi-inclusive deep inelastic scattering that determines the Sivers function f⊥1T(x, kT) to predict the Drell-Yan asymmetry ν as a function of q2, qT and x. The resulting predictions include a non-leading twist contribution from spin-averaged distributions that measurably effect lower energy results.

  14. Valence quark contributions for the gamma N -> P11(1440) transition

    SciTech Connect

    G. Ramalho, K. Tsushima

    2011-03-01

    A covariant spectator quark model is applied to estimate the valence quark contributions to the$ F1*(Q2) and F2*(Q2) transition form factors for the gamma N -> P11(1440) reaction. The Roper resonance, P11(1440), is assumed to be the first radial excitation of the nucleon. The model requires no extra parameters except for those already fixed by the previous studies for the nucleon. The results are consistent with the experimental data in the high Q2 region, and those from the lattice QCD. Finally the model is also applied to estimate the meson cloud contributions from the CLAS and MAID analysis.

  15. Valence quark contributions for the gamma N -> P11(1440) form factors

    SciTech Connect

    Gilberto Ramalho, Kazuo Tsushima

    2010-04-01

    Using a covariant spectator quark model we estimate valence quark contributions to the F_1*(Q2) and F2*(Q2) transition form factors for the gamma N -> P11(1440) reaction. The Roper resonance, P11(1440), is assumed to be the first radial excitation of the nucleon. The present model requires no extra parameters except for those already fixed by the previous studies for the nucleon. Our results are consistent with the experimental data in the high Q2 region, and those from lattice QCD. We also estimate the meson cloud contributions, focusing on the low Q2 region, where they are expected to be dominant.

  16. De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p

    SciTech Connect

    Legare, J.M.; Sekhon, G.S.; Laxova, R.

    1994-11-15

    We describe an infant boy with a unique de novo translocation involving chromosomes 1 and 4, resulting in dup(4q) and del(1p). His karyotype was 46,XY,-1,+der(1)t(1;4) (p36.2;q31.2). He had minor anomalies, congenital heart defect, respiratory distress, seizures, and central nervous system abnormalities. He died at age 11 weeks. The patient had manifestations of dup(4q) del(1p), and he was more seriously affected than patients having only one of these. No other patient with an identical chromosomal finding has been reported. 27 refs., 2 figs., 3 tabs.

  17. Measurement of the Diphoton Differential Cross Section in p anti-p Collisions at s**(1/2) = 1.96-TeV

    SciTech Connect

    Dyer, Joshua Marc; /Michigan State U.

    2007-01-01

    The diphoton differential cross-section as a function of mass up to 300 GeV/c{sup 2}, q{sub T} up to 100 GeV/c, and opening angle over a range of 0 to {pi} radians is measured. The measurement is performed using 1046.19 pb{sup -1} of data collected at Fermi National Accelerator Laboratory using the D0 detector. This analysis considers all direct diphoton states but attempts to suppress contributions due to fragmentation.

  18. From decay to complete breaking: pulling the strings in SU(2) Yang-Mills theory.

    PubMed

    Pepe, M; Wiese, U-J

    2009-05-15

    We study {2Q+1} strings connecting two static charges Q in (2+1)D SU(2) Yang-Mills theory. While the fundamental {2} string between two charges Q=1/2 is unbreakable, the adjoint {3} string connecting two charges Q=1 can break. When a {4} string is stretched beyond a critical length, it decays into a {2} string by gluon pair creation. When a {5} string is stretched, it first decays into a {3} string, which eventually breaks completely. The energy of the screened charges at the ends of a string is well described by a phenomenological constituent gluon model. PMID:19518940

  19. Superposition of super-integrable pseudo-Euclidean potentials in N = 2 with a fundamental constant of motion of arbitrary order in the momenta

    SciTech Connect

    Campoamor-Stursberg, R.

    2014-04-15

    It is shown that for any α,β∈R and k∈Z, the Hamiltonian H{sub k}=p{sub 1}p{sub 2}−αq{sub 2}{sup (2k+1)}q{sub 1}{sup (−2k−3)}−(β)/2 q{sub 2}{sup k}q{sub 1}{sup (−k−2)} is super-integrable, possessing fundamental constants of motion of degrees 2 and 2k + 2 in the momenta.

  20. Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization study.

    PubMed

    Buza, Natalia; Xu, Fang; Wu, Weiqing; Carr, Ryan J; Li, Peining; Hui, Pei

    2014-09-01

    Uterine intravenous leiomyomatosis (IVL) is a distinct smooth muscle neoplasm with a potential of clinical aggressiveness due to its ability to extend into intrauterine and extrauterine vasculature. In this study, chromosomal alterations analyzed by oligonucleotide array comparative genomic hybridization were performed in 9 cases of IVL. The analysis was informative in all cases with multiple copy number losses and/or gains observed in each tumor. The most frequent recurrent loss of 22q12.3-q13.1 was observed in 6 tumors (66.7%), followed by losses of 22q11.23-q13.31, 1p36.13-p33, 2p25.3-p23.3, and 2q24.2-q32.2 and gains of 6p22.2, 2q37.3 and 10q22.2-q22.3, in decreasing order of frequency. Copy number variants were identified at 14q11.2, 15q11.1-q11.2, and 15q26.2. Genes mapping to the regions of loss include CHEK2, EWS, NF2, PDGFB, and MAP3K7IP1 on chromosome 22q, HEI10 on chromosome 14q, and succinate dehydrogenase subunit B, E2F2, ARID1A KPNA6, EIF3S2 , PTCH2, and PIK3R3 on chromosome 1p. Regional losses on chromosomes 22q and 1p and gains on chromosomes 12q showed overlaps with those previously observed in uterine leiomyosarcomas. In addition, presence of multiple chromosomal aberrations implies a higher level of genetic instability. Follow-up polymerase chain reaction (PCR) sequencing analysis of MED12 gene revealed absence of G> A transition at nucleotides c.130 or c.131 in all 9 cases, a frequent mutation found in uterine leiomyoma and its variants. In conclusion, this is the first report of high-resolution, genome-wide investigation of IVL by oligonucleotide array comparative genomic hybridization. The presence of high frequencies of recurrent regional loss involving several chromosomes is an important finding and likely related to the pathogenesis of the disease. PMID:25033729

  1. Unstable flip-flopping spinning binary black holes

    NASA Astrophysics Data System (ADS)

    Lousto, Carlos O.; Healy, James

    2016-06-01

    We provide a unified description of the flip-flop and the antialignment instability effects in spinning black hole binaries in terms of real and imaginary flip-flop frequencies. We find that this instability is only effective for mass ratios 0.5 2;q ). This restricts the priors of parameter estimation techniques for the observation of gravitational waves from quasialigned spinning binary black holes and it is relevant for their astrophysical modeling and final recoil computations.

  2. Recombinant chromosome 18 resulting from a maternal pericentric inversion

    SciTech Connect

    Ayukawa, Hiroshi; Tsukahara, Masato; Fukuda, Masamichi; Kondoh, Osamu

    1994-05-01

    We report on a newborn girl with duplication of 18q12.2{yields}18 qter and deficiency of 18p11.2{yields}18pter which resulted from meiotic recombination of the maternal pericentric inversion, inv(18)(p11.2q12.2). Her clinical manifestations were compatible with those of partial trisomy 18q syndrome. We review the previously reported 9 cases in 8 families of rec(18) resulting from recombination of a parental pericentric inversion. 8 refs., 3 figs., 1 tab.

  3. [Recent advance in genetics of systemic lupus erythematosus].

    PubMed

    Feng, Xuebing; Chen, Sunle; Shen, Nan

    2002-12-01

    Systemic lupus erythematosus (SLE) is the prototype systemic autoimmune disease and genetic component seems to play an important role in disease susceptibility. Studies from murine models have shown that about 30 loci are related to the disease. Meanwhile, 50 loci have been found in linkage to SLE in human genomic studies, especially 1q23-24, 1q41-42, 2q37, 4p16-15.2, 6p21-11 and 16q13. A lot of candidate genes contribute to the disease susceptibility and different combinations of genes at multiple loci in individual patient may result in the development of diverse clinical features. PMID:12476427

  4. Study on the effect of the impeller and diffuser blade number on reactor coolant pump performances

    NASA Astrophysics Data System (ADS)

    Long, Y.; Yin, J. L.; Wang, D. Z.; Li, T. B.

    2016-05-01

    In this paper, CFD approach was employed to study how the blade number of impeller and diffuser influences reactor coolant pump performances. The three-dimensional pump internal flow channel was modelled by pro/E software, Reynolds-averaged Naiver-Stokes equations with the k-ε turbulence model were solved by the computational fluid dynamics software CFX. By post-processing on the numerical results, the performance curves of reactor coolant pump were obtained. The results are as follows, with the blade number of the impeller increasing, the head of the pump with different diffuser universally increases in the 8Q n∼1.2Q n conditions, and at different blade number of the diffuser, the head increases with the blade number of the impeller increasing. In 1.0Q n condition, when the blades number combination of impeller and diffuser chooses 4+16, 7+14 and 6+18, the head curves exist singular points. In 1.2Q n condition, the head curve still exists singular point in 6+18. With the blade number of the impeller increasing, the efficiency of the pump with different diffuser universally decreases in the 0.8Q n and 1.0Q n conditions, but in 1.2Q n condition, the efficiency of the pump with different diffuser universally increases. In 1.0Q n condition, the impellers of 4 and 5 blades are better. When the blade number combination of impeller and diffuser choose 4+11, 4+17, 4+18, 5+12, 5+17 and 5+18, the efficiencies relatively have higher values. With the blade number of the impeller increasing, the hydraulic shaft power of the pump with different diffuser universally increases in the 0.8Q n∼1.2Q n conditions, and with the blade number of the diffuser increasing, the power of different impeller overall has small fluctuation, but tends to be uniform. This means the increase of the diffuser blade number has less influence on shaft power.The influence on the head and flow by the matching relationship of the blades number between impeller and diffuser is very complicated, which

  5. Bose-Einstein correlations in e/sup +/e/sup -/ collisions

    SciTech Connect

    Juricic, I.

    1987-12-01

    The MARK II detector is used to study the Bose-Einstein correlation between pairs and triplets of charged pions produced in hadronic decays of the J)psi), the ..sqrt..s = 4 to 7 GeV continuum above the J)psi), two photon events at ..sqrt..s = 29 GeV, and e/sup )plus/)e/sup )minus/) annihilation events at ..sqrt..s = 29 GeV as a function of Q/sup 2/, the four-momentum transfer squared. After corrections for Coulomb effects and pion misidentification, we find a nearly full Bose-Einstein enhancement ..cap alpha.. in the J)psi) and the two photon data and about half the maximum value in the other two data sets. The radius parameter )tau)(an average over space and time) given by pion pair analyses lies within a band of +-0.10 fm around 0.73 fm and is the same, within errors, for all four data sets. Pion triplet analyses also give a consistent radius of approx. 0.54 fm. fits to two-dimensional distributions R(q/sub T//sup 2/, q/sub C//sup 2/) of invariant components of Q/sup 2/ = q/sub T//sup 2/ )plus) q/sub C//sup 2/ give )tau)/sub T/ approx. )tau)C approx. )tau), where q/sub T/ is the transverse three-momentum difference calculated with respect to the net pair three-momentum, and q/sub C/ is in effect the longitudinal three-momentum difference in the pion pair rest frame. When q/sub T/ is calculated with respect to the jet axis for two-jet events in the e/sup )plus/)e/sup )minus/) annihilation data at ..sqrt..s = 29 GeV, a fit to R(q/sub T//sup 2/, q/sub C//sup 2/) also gives )tau)/sub T/ approx. )tau)/sub C/ approx. )tau). Noting that q/sub L/ and q/sub 0/ are not invariant, we make fits to R(/sub T//sup T/, q/sub L//sup 2/) and to R(q/sub T//sup 2/, q/sub 0//sup 2/) (Kopylov formulation), and we find )tau)/sub 0/ approx. )tau)/sub L/ approx. )23))tau)/sub T/ to )12))tau)/sub T/. 44 refs., 43 figs., 15 tabs

  6. Interstitial 11q24 deletion: a new case and review of the literature.

    PubMed

    Tassano, Elisa; Janis, Sara; Canepa, Alberto; Zanotto, Elisabetta; Torello, Corrado; Gimelli, Giorgio; Cuoco, Cristina

    2016-08-01

    We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of our patient with that of recently reported patients studied by aCGH, who showed an overlapping deletion. We also analysed the gene content of the deleted region in order to investigate the possible involvement of specific genes in the clinical phenotype. PMID:27020790

  7. Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X.

    PubMed

    Panasiuk, Barbara; Usinskiené, Ruta; Kostyk, Ewa; Rybałko, Alicja; Stasiewicz-Jarocka, Beata; Krzykwa, Bogustawa; Pieńkowska-Grela, Barbara; Kucinskas, Vaidutis; Michalova, Kyra; Midro, Alina T

    2004-01-01

    A central concept in genetic counselling is the estimation of the probability of occurrence of unbalanced progeny at birth and other unfavourable outcomes of pregnancy (miscarriages, stillbirths and early death). The estimation of the occurrence probability for individual carriers of four different X-autosome translocations with breakpoints at Xp, namely t(X;5)(p22.2;q32), t(X;6)(p11.2;q21), t(X;7)(p22.2;p11.1), and t(X;22)(p22.1;p11.1), is presented. The breakpoint positions of chromosomal translocations were interpreted using GTG, RBG and FISH-wcp. Most of these translocations were detected in women with normal phenotype, karyotyped because of repeated miscarriages and/or malformed progeny. A girl with very rare pure trisomy Xp22.1-->pter and a functional Xp disomy was ascertained in one family and her clinical picture has been described in details. It has been suggested that not fully skewed X chromosome inactivation of X-autosome translocation with breakpoint positions at Xp22 (critical segment) could influence the phenotype and risk value. Therefore, the X inactivation status was additionally evaluated by analysis of replication banding patterns using RBG technique after incorporation of BrdU. In two carriers of translocations: t(X;5)(p22.2;q32) and t(X;7)(p22.2;p11.1), late replication state of der(X) was observed in 5/100 and 10/180 analysed cells, respectively. In these both cases the breakpoint positions were clustered at the critical segment Xp22.2. In two other cases, one with the breakpoint position within [t(X;22)(p22.1;p11.1)] and one outside the critical region [t(X;6)(p11.2;q21)], fully skewed inactivation was seen. Therefore, we suggest that neither the distribution of the breakpoint positions nor fully skewed inactivation influenced the phenotype of observed t(X;A) carriers. The occurrence probabilities of the unbalanced progeny were calculated according to Stene and Stengel-Rutkowski along with application of updated available empirical data. In

  8. The final HERMES data on g{sub 1}{sup p} and g{sub 1}{sup d}

    SciTech Connect

    De Nardo, Lara

    2007-06-13

    Precise measurements of the spin structure functions of the proton g{sub 1}{sup p}(x,Q{sup 2}) and deuteron g{sub 1}{sup d}(x,Q{sup 2}) are presented over the kinematic range 0.0041 {<=} x {<=} 0.9 and 0.18 GeV2 {<=} Q2 {<=} 20 GeV2. The data were collected at the HERMES experiment at DESY, in deep-inelastic scattering of 27.6 GeV longitudinally polarized positrons off longitudinally polarized hydrogen and deuterium gas targets internal to the HERA storage ring.

  9. Small terminal deletions of the long arm of chromosome 2: Two new cases

    SciTech Connect

    Fisher, A.M.; Ellis, K.H.; Browne, C.E.; Barber, J.C.K.; Barker, M.; Kennedy, C.R.; Foley, H.; Patton, M.A.

    1994-12-01

    We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations common to all 6 cases. The phenotype associated with small terminal 2q deletions is variable and clearly not always as mild as indicated in previous reports. The abnormality may also be more common than has been assumed. 12 refs., 3 figs., 1 tab.

  10. 49 CFR 173.301 - General requirements for shipment of compressed gases and other hazardous materials in cylinders...

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... citations affecting § 173.301, see the List of CFR Sections Affected, which appears in the Finding Aids... authorized. 3A 3AA 3AL 3AX 3A480X 3AAX 3B 3BN 3E 3HT 3T 4AA480 4B 4B240ET 4BA 4BW 4D 4DA 4DS 4E 4L 8 8AL 39...) Specification 2P, 2Q, 3E, 3HT, spherical 4BA, 4D, 4DA, 4DS, and 39 cylinders must be packed in strong...

  11. 49 CFR 173.301 - General requirements for shipment of compressed gases and other hazardous materials in cylinders...

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ..., see the List of CFR Sections Affected, which appears in the Finding Aids section of the printed volume... ICC-31 3A 3AA 3AL 3AX 3A480X 3AAX 3B 3BN 3E 3HT 3T 4AA480 4B 4B240ET 4BA 4BW 4D 4DA 4DS 4E 4L 8 8AL 39...) Specification 2P, 2Q, 3E, 3HT, spherical 4BA, 4D, 4DA, 4DS, and 39 cylinders must be packed in strong...

  12. 49 CFR 173.301 - General requirements for shipment of compressed gases and other hazardous materials in cylinders...

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... citations affecting § 173.301, see the List of CFR Sections Affected, which appears in the Finding Aids... ICC-31 3A 3AA 3AL 3AX 3A480X 3AAX 3B 3BN 3E 3HT 3T 4AA480 4B 4B240ET 4BA 4BW 4D 4DA 4DS 4E 4L 8 8AL 39...) Specification 2P, 2Q, 3E, 3HT, spherical 4BA, 4D, 4DA, 4DS, and 39 cylinders must be packed in strong...

  13. 49 CFR 173.301 - General requirements for shipment of compressed gases and other hazardous materials in cylinders...

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ..., see the List of CFR Sections Affected, which appears in the Finding Aids section of the printed volume... authorized. 3A 3AA 3AL 3AX 3A480X 3AAX 3B 3BN 3E 3HT 3T 4AA480 4B 4B240ET 4BA 4BW 4D 4DA 4DS 4E 4L 8 8AL 39...) Specification 2P, 2Q, 3E, 3HT, spherical 4BA, 4D, 4DA, 4DS, and 39 cylinders must be packed in strong...

  14. Baryon-Meson Mass Inequality

    NASA Astrophysics Data System (ADS)

    Nussinov, S.

    1983-12-01

    It is suggested that the inequality mB>32mM is a rigorous result in quantum chromodynamics. The analog for a (q1...qN) baryon in SU(N) is mB>(12N)mM. The inequality is proved for weak coupling and a version of the strong-coupling expansion where a separation Hq1q2q3=H12+H23+H31 of the problem can be achieved. Implications for quantum chromodynamics and composite models are briefly discussed.

  15. Gluon saturation and inclusive production at low transverse momenta

    SciTech Connect

    Levin, Eugene

    2010-11-15

    In this paper we suggest the generalization of k{sub T} factorization formula for inclusive gluon production for the dense-dense parton system scattering. It turns out that the soft gluon production with transverse momentum p{sub T} is suppressed by an additional Sudakov-like factor that depends on the p{sub T}{sup 2}/Q{sub s}{sup 2} ratio in good agreement with the first numerical calculation in the color glass condensate approach by J. P. Blaizot, T. Lappi, and Y. Mehtar-Tan.

  16. Human G-protein-coupled inwardly rectifying potassium channel (GIRK1) gene (KCNJ3): Localization to chromosome 2 and identification of a simple tandem repeat polymorphism

    SciTech Connect

    Stoffel, M.; Powell, K.L.; Espinosa, R. III; Philipson, L.H.; Le Beau, M.M.; Bell, G.I. )

    1994-05-01

    The gene encoding the human G-protein-coupled inwardly rectifying potassium channel designated GIRK1 (gene symbol, KCNJ3) was mapped to chromosome 2 by analyzing its segregation in a panel of human-hamster somatic cell hybrids. This assignment was confirmed by fluorescence in situ hybridization to metaphase chromosomes, and the gene was further localized to band 2q24.1. A highly informative simple tandem repeat DNA polymorphism of the form (CA)[sub n] was identified and used to localize KCNJ3 within the genetic map of the long arm of chromosome 2. 8 refs., 1 fig., 2 tabs.

  17. Tsallis entropy and entanglement constraints in multiqubit systems

    SciTech Connect

    Kim, Jeong San

    2010-06-15

    We show that the restricted shareability and distribution of multiqubit entanglement can be characterized by Tsallis-q entropy. We first provide a class of bipartite entanglement measures named Tsallis-q entanglement, and provide its analytic formula in two-qubit systems for 1{<=}q{<=}4. For 2{<=}q{<=}3, we show a monogamy inequality of multiqubit entanglement in terms of Tsallis-q entanglement, and we also provide a polygamy inequality using Tsallis-q entropy for 1{<=}q{<=}2 and 3{<=}q{<=}4.

  18. Photoprocesses in quinolone substituted

    NASA Astrophysics Data System (ADS)

    Vasilyeva, N. Y.; Vusovich, O. V.

    2002-03-01

    In the present work the analysis of the possible ways of energy degradation of electron excited states of 4-methyl-7- hydxyquinolone-2 (Q) and its protolytic species is presented (Figure 1); a ratio of radiative and nonradiative channels of deactivation of energy of electronic excitation is established; constants of photophysical processes (internal and intercrossing conversion), proceeding after act of absorption of light are designed. Study of exited state intramolecular proton transfer (ESIPT) in quinolones is interesting as a source of information on the relative importance of these processes in the photophysics and photochemistry of such molecular systems.

  19. The algebra of supertraces for 2+1 super de Sitter gravity

    NASA Technical Reports Server (NTRS)

    Urrutia, L. F.; Waelbroeck, H.; Zertuche, F.

    1993-01-01

    The algebra of the observables for 2+1 super de Sitter gravity, for one genus of the spatial surface is calculated. The algebra turns out to be an infinite Lie algebra subject to non-linear constraints. The constraints are solved explicitly in terms of five independent complex supertraces. These variables are the true degrees of freedom of the system and their quantized algebra generates a new structure which is referred to as a 'central extension' of the quantum algebra SU(2)q.

  20. A Dysmorphic Child with a Pericentric Inversion of Chromosome 8

    PubMed Central

    Ananthapur, Venkateshwari; Avvari, Srilekha; Madireddi, Sujatha; Nallari, Pratibha; Akka, Jyothy

    2012-01-01

    An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype. PMID:22606536

  1. A dysmorphic child with a pericentric inversion of chromosome 8.

    PubMed

    Ananthapur, Venkateshwari; Avvari, Srilekha; Madireddi, Sujatha; Nallari, Pratibha; Akka, Jyothy

    2012-01-01

    An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype. PMID:22606536

  2. Drift in toroidal configurations

    NASA Astrophysics Data System (ADS)

    Evangelidis, E. A.

    1990-12-01

    This paper considers possible mechanisms involved in amplifying the drift velocity of plasma particles, under conditions of toroidal geometry. It is shown that particles constrained to move on an axisymmetric circular spheroidal surface, develop a sinusoidal motion with a characteristic frequency which depends on the energy of the particles, the value of the isoflux surface, and the value of the general momentum. It is also shown that the incorporation of the effects of toroidal geometry in the Lorentz equation produces a nonambipolar charge-dependent particle flux amplified by a factor 2(q/epsilon) squared.

  3. Ultrasensitive Si phototransistors with a punchthrough base

    SciTech Connect

    Luo, Hailin; Chang, Yuchun; Wong, K. S.; Wang, Y.

    2001-08-06

    Si phototransistors with a punchthrough base were fabricated with regular planar technology. Optical conversion gains larger than 15000 were observed. In addition to very high gain, the unique structure of the device also resulted in a fast transient response as well as low output noise. The measured full width at half maximum of the device transient response is 1.6 ns and a -3 dB bandwidth of 300 MHz. The measured output noises at different currents can be well fitted by the relation i{sub n}{sup 2}=2qI{sub C}. {copyright} 2001 American Institute of Physics.

  4. Syntheses, Structures, and Photochemistry of Manganese Nitrosyls Derived from Designed Schiff Base Ligands: Potential NO Donors that can be Activated by Near-Infrared Light

    PubMed Central

    Hoffman-Luca, C. Gianna; Eroy-Reveles, Aura A.; Alvarenga, Jose

    2016-01-01

    Two manganese nitrosyls, namely [Mn(SBPy3)(NO)](ClO4)2 (1) and [Mn(SBPy2Q)(NO)](ClO4)2 (2) have been synthesized by using designed pentadentate Schiff base ligands N,N-bis(2-pyridylmethyl)amine-N-ethyl-2-pyridine-2-aldimine (SBPy3) and N,N-bis(2-pyridyl methyl)amine-N-ethyl-2-quinoline-2-aldimine (SBPy2Q). Reaction of NO(g) with [Mn(SBPy3)(MeOH)](ClO4)2 and [Mn(SBPy2Q)(EtOH)](ClO4)2 in MeCN affords 1 and 2 respectively in good yields. Narrow-width peaks in the 1H NMR spectra and strong νNO at 1773 cm-1 (of 1) and 1759 cm-1 (of 2) confirm a strongly-coupled {low-spin Mn(II)-NO• }formulation for both these {Mn-NO}6 nitrosyls. In MeCN, 1 exhibits two strong absorption bands with λmax at 500 and 720 nm. These bands red shifts to 550 and 785 nm in case of 2 due to substitution of the pyridyl-imine moiety of SBPy3 with quinolyl-imine moiety in the SBPy2Q ligand frame. Exposure of solutions 1 and 2 to near-infrared (NIR) light (780 nm, 5 mW) results in rapid bleaching of the orange and fuchsia solutions and free NO is detected in the solutions by an NO-sensitive electrode. The high quantum yield values (Φ) of 1 (0.580 ± 0.010, λirr = 550 nm, MeCN) and 2 (0.434 ± 0.010, λirr = 550 nm, MeCN) and in particular their sensitivity to NIR light of 800-950 nm range strongly suggest that these designed manganese nitrosyls could be used as NIR light-triggered NO donors. PMID:19722518

  5. The Interleukin 1 Gene Cluster Contains a Major Susceptibility Locus for Ankylosing Spondylitis

    PubMed Central

    Timms, Andrew E.; Crane, Alison M.; Sims, Anne-Marie; Cordell, Heather J.; Bradbury, Linda A.; Abbott, Aaron; Coyne, Mark R. E.; Beynon, Owen; Herzberg, Ibi; Duff, Gordon W.; Calin, Andrei; Cardon, Lon R.; Wordsworth, B. Paul; Brown, Matthew A.

    2004-01-01

    Ankylosing spondylitis (AS) is a common and highly heritable inflammatory arthropathy. Although the gene HLA-B27 is almost essential for the inheritance of the condition, it alone is not sufficient to explain the pattern of familial recurrence of the disease. We have previously demonstrated suggestive linkage of AS to chromosome 2q13, a region containing the interleukin 1 (IL-1) family gene cluster, which includes several strong candidates for involvement in the disease. In the current study, we describe strong association and transmission of IL-1 family gene cluster single-nucleotide polymorphisms and haplotypes with AS. PMID:15309690

  6. Experimental determination of a betatron difference resonance

    SciTech Connect

    Ellison, M.; Ball, M.; Brabson, B.

    1993-06-01

    The betatron difference resonance, Q{sub z} {minus} 2Q{sub z} = {minus}6, where Q{sub x,z} are the number of betatron oscillations per turn, was studied at the Indiana University Cyclotron Facility (IUCF) cooler ring. The position of the beam was measured in both the horizontal and vertical planes of oscillation after a pulsed kicker magnet was fired to produce coherent motion. The effect of the coupling resonance was clearly observed and it was found that the subsequent particle motion could be described by a simple Hamiltonian. The resonance strength and tune shift as a function of betatron amplitude were measured.

  7. New results from the studies of the Ν (1440) 1/2+, Ν (1520) 3/2–, and Δ (1620) 1/2– resonances in exclusive ep → e'p'π+π– electroproduction with the CLAS detector

    DOE PAGESBeta

    Mokeev, Viktor I.; Burkert, Volker D.; Carman, Daniel S.; Elouadrhiri, Latifa; Fedotov, Gleb V.; Golovatch, Evgeny N.; Gothe, Ralf W.; Hicks, Ken; Ishkhanov, Boris S.; Isupov, Evgeny L.; et al

    2016-02-25

    In this study, the transition helicity amplitudes from the proton ground state to the N(1440)1/2+, N(1520)3/2–, and Δ(1620)1/2– resonances (γvpN* electrocouplings) were determined from the analysis of nine independent onefold differential π+π–p electroproduction cross sections off a proton target, taken with CLAS at photon virtualities 0.5GeV2 < Q2 < 1.5 GeV2. The phenomenological reaction model employed for separation of the resonant and nonresonant contributions to this exclusive channel was further developed.

  8. Foaming three-charge black holes

    SciTech Connect

    Bena, Iosif; Wang, C.-W.; Warner, Nicholas P.

    2007-06-15

    We find a very large set of smooth horizonless geometries that have the same charges and angular momenta as the five-dimensional, maximally spinning, three-charge, supersymmetric black hole (J{sup 2}=Q{sup 3}). Our solutions are constructed using a four-dimensional Gibbons-Hawking base space that has a very large number of two-cycles. The entropy of our solutions is proportional to {radical}(Q). In the same class of solutions we also find microstates corresponding to zero-entropy black rings, and these are related to the microstates of the black hole by continuous deformations.

  9. Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.

    PubMed

    Fattahi, Zohreh; Kahrizi, Kimia; Nafissi, Shahriar; Fadaee, Mahsa; Abedini, Seyedeh Sedigheh; Kariminejad, Ariana; Akbari, Mohammad R; Najmabadi, Hossein

    2015-01-01

    Mutations in plectin, a widely expressed giant cytolinker protein can lead to different diseases mostly with signs of muscular dystrophy (MD) and skin blistering. The only report of plectin-related disease without skin involvement is limb-girdle muscular dystrophy type 2Q (LGMD2Q) phenotype, showing early-onset limb-girdle muscular dystrophy symptoms with progressive manner and no cranial muscle involvement. Here, we report a non-consanguineous Iranian family with two affected sisters showing progressive limb and ocular muscle weakness. Whole Exome Sequencing (WES) led to identification of a compound heterozygous mutations, p.Gln1022Ter (c.3064C>T) and p.Gly3835Ser (c.11503G>A), in PLEC gene. To the best of our knowledge, this would be the first report of a patient with LGMD and myasthenic symptoms without any skin involvement, caused by plectinopathy. This observation extends the phenotypic spectrum of PLEC related diseases and suggests a variable expression of the PLEC- related symptoms. PMID:25556389

  10. Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease.

    PubMed

    Hartiala, Jaana A; Tang, W H Wilson; Wang, Zeneng; Crow, Amanda L; Stewart, Alexandre F R; Roberts, Robert; McPherson, Ruth; Erdmann, Jeanette; Willenborg, Christina; Hazen, Stanley L; Allayee, Hooman

    2016-01-01

    Metabolites derived from dietary choline and L-carnitine, such as trimethylamine N-oxide and betaine, have recently been identified as novel risk factors for atherosclerosis in mice and humans. We sought to identify genetic factors associated with plasma betaine levels and determine their effect on risk of coronary artery disease (CAD). A two-stage genome-wide association study (GWAS) identified two significantly associated loci on chromosomes 2q34 and 5q14.1. The lead variant on 2q24 (rs715) localizes to carbamoyl-phosphate synthase 1 (CPS1), which encodes a mitochondrial enzyme that catalyses the first committed reaction and rate-limiting step in the urea cycle. Rs715 is also significantly associated with decreased levels of urea cycle metabolites and increased plasma glycine levels. Notably, rs715 yield a strikingly significant and protective association with decreased risk of CAD in only women. These results suggest that glycine metabolism and/or the urea cycle represent potentially novel sex-specific mechanisms for the development of atherosclerosis. PMID:26822151

  11. Safety evaluation of combination CCNU and continuous toceranib phosphate (Palladia(®) ) in tumour-bearing dogs: a phase I dose-finding study.

    PubMed

    Pan, X; Tsimbas, K; Kurzman, I D; Vail, D M

    2016-06-01

    While maintaining a standard toceranib dosage [2.75 mg kg(-1) , PO, every other day (EOD)], three dose-escalating CCNU cohorts up to and including 60 mg m(-2) , PO, q3wk, were completed. The dose-limiting toxicities (DLT) for the combination were neutropenia and the maximum tolerated dose (MTD) for CCNU when given with continuous toceranib was determined to be 50 mg m(-2) , q3wk. While activity is not a primary objective of phase I trials, we observed one complete (lymphoma) and four partial responses (lymphoma, sarcoma, undifferentiated carcinoma and prostatic carcinoma) and two dogs experienced stable disease for >6 weeks [gastric adenocarcinoma and metastatic multilobulated osteochondrosarcoma (MLO)] for an objective response rate of 38.4% and a biological response rate of 53.8%. Concurrent continuous toceranib (2.75 mg kg(-1) , EOD) and pulse dose CCNU (50 mg m(-2) , q3wk) was well tolerated. Phase II effectiveness and phase III prospective randomized trials should further interrogate the potential activity of this combination. PMID:24735385

  12. Identification, expression, and immuno-reactivity of Sol i 2 & Sol i 4 venom proteins of queen red imported fire ants, Solenopsis invicta Buren (Hymenoptera: Formicidae).

    PubMed

    Lockwood, Stephanie A; Haghipour-Peasley, Jilla; Hoffman, Donald R; Deslippe, Richard J

    2012-10-01

    We report on two low-molecular weight proteins that are stored in the venom of queen red imported fire ants (Solenopsis invicta). Translated amino acid sequences identified one protein to have 74.8% identity with the Sol i 2w worker allergen, and the other protein was found to have 96/97% identity with Sol i 4.01w/4.02w worker allergens. Both Sol i 2 and Sol i 4 queen and worker proteins were expressed using pEXP1-DEST vector in SHuffle™ T7 Express lysY Escherichia coli. Proteins were expressed at significant concentrations, as opposed to the μg/ml amounts by our previous expression methods, enabling further study of these proteins. Sol i 2q protein bound weakly to human IgE, sera pooled from allergic patients, whereas Sol i 2w, Sol i 4.01w, and Sol i 4q proteins bound strongly. Despite Sol i 2w and Sol i 2q proteins having 74.8% identity, the queen protein is less immuno-reactive than the worker allergen. This finding is consistent with allergic individuals being less sensitive to queen than worker venom. PMID:22683679

  13. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

    PubMed Central

    Adhikari, Kaustubh; Fuentes-Guajardo, Macarena; Quinto-Sánchez, Mirsha; Mendoza-Revilla, Javier; Camilo Chacón-Duque, Juan; Acuña-Alonzo, Victor; Jaramillo, Claudia; Arias, William; Lozano, Rodrigo Barquera; Pérez, Gastón Macín; Gómez-Valdés, Jorge; Villamil-Ramírez, Hugo; Hunemeier, Tábita; Ramallo, Virginia; Silva de Cerqueira, Caio C.; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Gallo, Carla; Poletti, Giovanni; Schuler-Faccini, Lavinia; Salzano, Francisco M.; Bortolini, Maria- Cátira; Canizales-Quinteros, Samuel; Cheeseman, Michael; Rosique, Javier; Bedoya, Gabriel; Rothhammer, Francisco; Headon, Denis; González-José, Rolando; Balding, David; Ruiz-Linares, Andrés

    2016-01-01

    We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10−8) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion. PMID:27193062

  14. Updates on the Studies of $$${\\varvec{N}}^\\mathbf{*}$$$ N * Structure with CLAS and the Prospects with CLAS12

    DOE PAGESBeta

    Mokeev, V. I.

    2016-06-16

    Here, the recent results onmore » $$\\gamma_vpN^*$$ electrocouplings from analyses of the data on exclusive meson electroproduction off protons measured with the CLAS detector at Jefferson Lab are presented. The impact of these results on the exploration of the excited nucleon state structure and non-perturbative strong interaction dynamics behind its formation is outlined. The future extension of these studies in the experiments with the CLAS12 detector in the upgraded Hall-B at JLab will provide for the first time $$\\gamma_vpN^*$$ electrocouplings of all prominent resonances at the still unexplored distance scales that correspond to extremely low (0.05~GeV$^2 < Q^2 <$ 0.5~GeV$^2$) and the highest photon virtualities (5.0~GeV$^2 < Q^2 <$ 12.0~GeV$^2$) ever achieved in the exclusive electroproduction measurements. The expected results will address the most important open problems of the Standard Model: on the nature of more than 98\\% of hadron mass, quark-gluon confinement and emergence of the excited nucleon state structure from the QCD Lagrangian, as well as allowing a search for the new states of hadron matter predicted from the first principles of QCD, the so-called hybrid baryons.« less

  15. Charge recombination and thermoluminescence in photosystem II.

    PubMed

    Rappaport, Fabrice; Cuni, Aude; Xiong, Ling; Sayre, Richard; Lavergne, Jérôme

    2005-03-01

    In the recombination process of Photosystem II (S(2)Q(A)(-)-->S(1)Q(A)) the limiting step is the electron transfer from the reduced primary acceptor pheophytin Ph(-) to the oxidized primary donor P(+) and the rate depends on the equilibrium constant between states S(2)PPhQ(A)(-) and S(1)P(+)Ph(-)Q(A). Accordingly, mutations that affect the midpoint potential of Ph or of P result in a modified recombination rate. A strong correlation is observed between the effects on the recombination rate and on thermoluminescence (TL, the light emission from S(2)Q(A)(-) during a warming ramp): a slower recombination corresponds to a large enhancement and higher temperature of the TL peak. The current theory of TL does not account for these effects, because it is based on the assumption that the rate-limiting step coincides with the radiative process. When implementing the known fact that the radiative pathway represents a minor leak, the modified TL theory readily accounts qualitatively for the observed behavior. However, the peak temperature is still lower than predicted from the temperature-dependence of recombination. We argue that this reflects the heterogeneity of the recombination process combined with the enhanced sensitivity of TL to slower components. The recombination kinetics are accurately fitted as a sum of two exponentials and we show that this is not due to a progressive stabilization of the charge-separated state, but to a pre-existing conformational heterogeneity. PMID:15653722

  16. Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred

    SciTech Connect

    Dow, E.; Cross, S.; Williamson, R.; Mulligan, L.M.; Lyonnet, S.; Wolgemuth, D.J.; Mascari, M.; Ladda, R.

    1994-10-15

    We have studied a large Mennonite kindred in which 20 members were affected with Hirschburg disease (HSCR), 5 of whom had one or more manifestations of Waardenburg syndrome (WS) type II (WS2). Eleven additional relatives had signs of WS2 without HSCR. Since HSCR and WS2 each represent perturbations of neural crest migration/differentiation, this large pedigree with apparent cosegregation of HSCR and WS2 offered an opportunity to search for linkage between these loci, candidate genes, and random DNA markers, particularly in view of recent discoveries of genes for Waardenburg syndrome type I (WS1) and Hirschsprung disease (c-ret). We have examined the following possible linked markers in 69 relatives in this family: the c-ret gene (HSCR); the human PAX3 gene (HuP2) on chromosome 2q (WS1) and placental alkaline phosphatase (ALPP) on chromosome 2q (linked to WS1); argininosuccinate synthetase (ASS) on chromosome 9q, close to ABO blood groups which have shown weak linkage to WS; and the {beta}1 GABA receptor gene (GABARB1) on chromosome 4q13-11, close to c-kit, deletions of which cause piebaldism. Linkage between any of these loci and HSCR/WS in this kindred was excluded, demonstrating that there is at least one further locus for HSCR other than c-ret. 45 refs., 1 fig., 3 tabs.

  17. Linkage approach and direct COL4A5 gene mutation screening in Alport syndrome

    SciTech Connect

    Turco, A.E.; Rossetti, S.; Biasi, O.

    1994-09-01

    Alport Syndrome (AS) is transmitted as an X-linked dominant trait in the majority of families, the defective gene being COL4A5 at Xq22. In the remaining cases AS appears to be autosomally inherited. Recently, mutations in COL4A3 and COL4A4 genes at 2q35-q37 were identified in families with autosomal recessive AS. Mutation detection screening is being performed by non-radioactive single stand conformation polymorphism (SSCP), heteroduplex analysis, and automated DNA sequencing in over 170 AS patients enrolled in the ongoing Italian Multicenter Study on AS. So far twenty-five different mutations have been found, including missense, splicing, and frameshifts. Moreover, by using six tightly linked COL4A5 informative makers, we have also typed two larger AS families, and have shown compatible sex-linked transmission in one other, suggesting autosomal recessive inheritance. In this latter three-generation COL4A5-unlinked family we are now looking for linkage and for mutations in the candidate COL4A3 and COL4A4 genes on chromosome 2q.

  18. Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.

    PubMed

    Sellier, Chantal; Campanari, Maria-Letizia; Julie Corbier, Camille; Gaucherot, Angeline; Kolb-Cheynel, Isabelle; Oulad-Abdelghani, Mustapha; Ruffenach, Frank; Page, Adeline; Ciura, Sorana; Kabashi, Edor; Charlet-Berguerand, Nicolas

    2016-06-15

    An intronic expansion of GGGGCC repeats within the C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD). Ataxin-2 with intermediate length of polyglutamine expansions (Ataxin-2 Q30x) is a genetic modifier of the disease. Here, we found that C9ORF72 forms a complex with the WDR41 and SMCR8 proteins to act as a GDP/GTP exchange factor for RAB8a and RAB39b and to thereby control autophagic flux. Depletion of C9orf72 in neurons partly impairs autophagy and leads to accumulation of aggregates of TDP-43 and P62 proteins, which are histopathological hallmarks of ALS-FTD SMCR8 is phosphorylated by TBK1 and depletion of TBK1 can be rescued by phosphomimetic mutants of SMCR8 or by constitutively active RAB39b, suggesting that TBK1, SMCR8, C9ORF72, and RAB39b belong to a common pathway regulating autophagy. While depletion of C9ORF72 only has a partial deleterious effect on neuron survival, it synergizes with Ataxin-2 Q30x toxicity to induce motor neuron dysfunction and neuronal cell death. These results indicate that partial loss of function of C9ORF72 is not deleterious by itself but synergizes with Ataxin-2 toxicity, suggesting a double-hit pathological mechanism in ALS-FTD. PMID:27103069

  19. Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease

    PubMed Central

    Hartiala, Jaana A.; Wilson Tang, W. H.; Wang, Zeneng; Crow, Amanda L.; Stewart, Alexandre F. R.; Roberts, Robert; McPherson, Ruth; Erdmann, Jeanette; Willenborg, Christina; Hazen, Stanley L.; Allayee, Hooman

    2016-01-01

    Metabolites derived from dietary choline and L-carnitine, such as trimethylamine N-oxide and betaine, have recently been identified as novel risk factors for atherosclerosis in mice and humans. We sought to identify genetic factors associated with plasma betaine levels and determine their effect on risk of coronary artery disease (CAD). A two-stage genome-wide association study (GWAS) identified two significantly associated loci on chromosomes 2q34 and 5q14.1. The lead variant on 2q24 (rs715) localizes to carbamoyl-phosphate synthase 1 (CPS1), which encodes a mitochondrial enzyme that catalyses the first committed reaction and rate-limiting step in the urea cycle. Rs715 is also significantly associated with decreased levels of urea cycle metabolites and increased plasma glycine levels. Notably, rs715 yield a strikingly significant and protective association with decreased risk of CAD in only women. These results suggest that glycine metabolism and/or the urea cycle represent potentially novel sex-specific mechanisms for the development of atherosclerosis. PMID:26822151

  20. Peptides (P1, P2 and its mutations) binding with a graphene sheet: an all-atom to all-residue hierarchical coarse-grained approach

    NASA Astrophysics Data System (ADS)

    Kuang, Zhifeng; Farmer, Barry; Pandey, Ras

    2013-03-01

    Binding of peptide P2 (EPLQLKM) [1] and its mutations (P2G, P2Q) to a graphene sheet are studied by a coarse-grained computer simulation. Our hierarchical coarse-grained approach involves all-atom MD simulation to assess the binding interaction of each residue with the graphene sheet. Data from all-atom simulations are then used as input to phenomenological interaction in a coarse-grained MC simulation [2]. Binding of each peptide and its residue in corresponding sequence (P2, P2G, P2Q) are evaluated by analyzing the adsorption of each residue, its mobility, and structural profiles. Although it is difficult to identify overall morphological differences in adsorbed peptides by visual inspections, quantitative analysis of the conformational changes of adsorbed peptides shows variations in size among P2E and its mutations. Results on binding of peptide P1 (HSSYWYAFNNKT) may also be presented if data become available. This work is supported by the Air Force Research Laboratory.

  1. Whole-genome copy number variation analysis in anophthalmia and microphthalmia

    PubMed Central

    Schilter, Kala F.; Reis, Linda M.; Schneider, Adele; Bardakjian, Tanya M.; Abdul-Rahman, Omar; Kozel, Beth A.; Zimmerman, Holly H.; Broeckel, Ulrich; Semina, Elena V.

    2014-01-01

    Anophthalmia and microphthalmia (A/M) represent severe developmental ocular malformations. Currently, mutations in known genes explain less than 40% of A/M cases. We performed whole genome copy number variation analysis in sixty patients affected with isolated or syndromic A/M. Pathogenic deletions of 3q26 (SOX2) were identified in four independent patients with syndromic microphthalmia. Other variants of interest included regions with a known role in human disease (likely pathogenic) as well as novel rearrangements (uncertain significance). A 2.2-Mb duplication of 3q29 in a patient with nonsyndromic anophthalmia and an 877-kb duplication of 11p13 (PAX6) and a 1.4-Mb deletion of 17q11.2 (NF1) in two independent probands with syndromic microphthalmia and other ocular defects were identified; while ocular anomalies have been previously associated with 3q29 duplications, PAX6 duplications, and NF1 mutations in some cases, the ocular phenotypes observed here are more severe than previously reported. Three novel regions of possible interest included a 2q14.2 duplication which cosegregated with microphthalmia/microcornea and congenital cataracts in one family, and 2q21 and 15q26 duplications in two additional cases; each of these regions contains genes that are active during vertebrate ocular development. Overall, this study identified causative copy number mutations and regions with a possible role in ocular disease in 17% of A/M cases. PMID:23701296

  2. The remarkable properties of the associated Romanovski functions

    NASA Astrophysics Data System (ADS)

    Fakhri, H.; Mojaveri, B.

    2011-05-01

    For n and m<-\\frac{1}{2} with n - m - q >= 0 a non-negative integer, we introduce a differential equation for the associated Romanovski functions R(q, β)n, m(x), so that its form remains invariant under the transformation n → 2q - n - 1. Introducing the Rodrigues formula for both regions n and n\\gt q-\\frac{1}{2}, we obtain simultaneously and separately realization of the laddering equations with respect to the labels n and m by means of two pairs of ladder operators. Also, the square integrability and orthogonality of the functions are considered in cases β ≠ 0 and β = 0 with respect to the weight functions \\frac{e^{\\beta \\arctan x}}{(1+x^2)^{q}} and (1 + x2)-1 - q, respectively. Exponential generating functions for the infinite sequences with the same n in both regions n and n\\gt q-\\frac{1}{2} as well as for the infinite ones with given even and odd values of n - m - q are separately calculated. As an application to supersymmetric quantum mechanics, we show that there exist four different methods for generating the spectrum of the noncentral hyperbolic Scarf potential.

  3. Measurement of the cross-section ratio σψ(2S)/σJ/ψ(1S) in deep inelastic exclusive ep scattering at HERA

    NASA Astrophysics Data System (ADS)

    Abramowicz, H.; Abt, I.; Adamczyk, L.; Adamus, M.; Antonelli, S.; Aushev, V.; Aushev, Y.; Behnke, O.; Behrens, U.; Bertolin, A.; Bloch, I.; Boos, E. G.; Borras, K.; Brock, I.; Brook, N. H.; Brugnera, R.; Bruni, A.; Bussey, P. J.; Caldwell, A.; Capua, M.; Catterall, C. D.; Chwastowski, J.; Ciborowski, J.; Ciesielski, R.; Cooper-Sarkar, A. M.; Corradi, M.; Corriveau, F.; Dementiev, R. K.; Devenish, R. C. E.; Dolinska, G.; Dusini, S.; Figiel, J.; Foster, B.; Gach, G.; Gallo, E.; Garfagnini, A.; Geiser, A.; Gizhko, A.; Gladilin, L. K.; Golubkov, Yu. A.; Grebenyuk, J.; Gregor, I.; Grzelak, G.; Gueta, O.; Guzik, M.; Hain, W.; Hochman, D.; Hori, R.; Ibrahim, Z. A.; Iga, Y.; Ishitsuka, M.; Iudin, A.; Januschek, F.; Jomhari, N. Z.; Kadenko, I.; Kananov, S.; Karshon, U.; Kaur, M.; Kaur, P.; Kisielewska, D.; Klanner, R.; Klein, U.; Kondrashova, N.; Kononenko, O.; Korol, Ie.; Korzhavina, I. A.; Kotański, A.; Kötz, U.; Kovalchuk, N.; Kowalski, H.; Krupa, B.; Kuprash, O.; Kuze, M.; Levchenko, B. B.; Levy, A.; Libov, V.; Limentani, S.; Lisovyi, M.; Lobodzinska, E.; Löhr, B.; Lohrmann, E.; Longhin, A.; Lontkovskyi, D.; Lukina, O. Yu.; Makarenko, I.; Malka, J.; Mergelmeyer, S.; Mohamad Idris, F.; Mohammad Nasir, N.; Myronenko, V.; Nagano, K.; Nobe, T.; Notz, D.; Nowak, R. J.; Onishchuk, Yu.; Paul, E.; Perlański, W.; Pokrovskiy, N. S.; Przybycień, M.; Roloff, P.; Rubinsky, I.; Ruspa, M.; Saxon, D. H.; Schioppa, M.; Schmidke, W. B.; Schneekloth, U.; Schörner-Sadenius, T.; Shcheglova, L. M.; Shevchenko, R.; Shkola, O.; Shyrma, Yu.; Singh, I.; Skillicorn, I. O.; Słomiński, W.; Solano, A.; Stanco, L.; Stefaniuk, N.; Stern, A.; Stopa, P.; Sztuk-Dambietz, J.; Szuba, D.; Szuba, J.; Tassi, E.; Tokushuku, K.; Tomaszewska, J.; Trofymov, A.; Tsurugai, T.; Turcato, M.; Turkot, O.; Tymieniecka, T.; Verbytskyi, A.; Viazlo, O.; Walczak, R.; Wan Abdullah, W. A. T.; Wichmann, K.; Wing, M.; Wolf, G.; Yamada, S.; Yamazaki, Y.; Zakharchuk, N.; Żarnecki, A. F.; Zawiejski, L.; Zenaiev, O.; Zhautykov, B. O.; Zhmak, N.; Zotkin, D. S.

    2016-08-01

    The exclusive deep inelastic electroproduction of ψ (2 S) and J / ψ (1 S) at an ep centre-of-mass energy of 317 GeV has been studied with the ZEUS detector at HERA in the kinematic range 2 <Q2 < 80 GeV2, 30 < W < 210 GeV and | t | < 1 GeV2, where Q2 is the photon virtuality, W is the photon-proton centre-of-mass energy and t is the squared four-momentum transfer at the proton vertex. The data for 2 <Q2 < 5 GeV2 were taken in the HERA I running period and correspond to an integrated luminosity of 114 pb-1. The data for 5

  4. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.

    PubMed

    Rothman, Nathaniel; Garcia-Closas, Montserrat; Chatterjee, Nilanjan; Malats, Nuria; Wu, Xifeng; Figueroa, Jonine D; Real, Francisco X; Van Den Berg, David; Matullo, Giuseppe; Baris, Dalsu; Thun, Michael; Kiemeney, Lambertus A; Vineis, Paolo; De Vivo, Immaculata; Albanes, Demetrius; Purdue, Mark P; Rafnar, Thorunn; Hildebrandt, Michelle A T; Kiltie, Anne E; Cussenot, Olivier; Golka, Klaus; Kumar, Rajiv; Taylor, Jack A; Mayordomo, Jose I; Jacobs, Kevin B; Kogevinas, Manolis; Hutchinson, Amy; Wang, Zhaoming; Fu, Yi-Ping; Prokunina-Olsson, Ludmila; Burdett, Laurie; Yeager, Meredith; Wheeler, William; Tardón, Adonina; Serra, Consol; Carrato, Alfredo; García-Closas, Reina; Lloreta, Josep; Johnson, Alison; Schwenn, Molly; Karagas, Margaret R; Schned, Alan; Andriole, Gerald; Grubb, Robert; Black, Amanda; Jacobs, Eric J; Diver, W Ryan; Gapstur, Susan M; Weinstein, Stephanie J; Virtamo, Jarmo; Cortessis, Victoria K; Gago-Dominguez, Manuela; Pike, Malcolm C; Stern, Mariana C; Yuan, Jian-Min; Hunter, David J; McGrath, Monica; Dinney, Colin P; Czerniak, Bogdan; Chen, Meng; Yang, Hushan; Vermeulen, Sita H; Aben, Katja K; Witjes, J Alfred; Makkinje, Remco R; Sulem, Patrick; Besenbacher, Soren; Stefansson, Kari; Riboli, Elio; Brennan, Paul; Panico, Salvatore; Navarro, Carmen; Allen, Naomi E; Bueno-de-Mesquita, H Bas; Trichopoulos, Dimitrios; Caporaso, Neil; Landi, Maria Teresa; Canzian, Federico; Ljungberg, Borje; Tjonneland, Anne; Clavel-Chapelon, Francoise; Bishop, David T; Teo, Mark T W; Knowles, Margaret A; Guarrera, Simonetta; Polidoro, Silvia; Ricceri, Fulvio; Sacerdote, Carlotta; Allione, Alessandra; Cancel-Tassin, Geraldine; Selinski, Silvia; Hengstler, Jan G; Dietrich, Holger; Fletcher, Tony; Rudnai, Peter; Gurzau, Eugen; Koppova, Kvetoslava; Bolick, Sophia C E; Godfrey, Ashley; Xu, Zongli; Sanz-Velez, José I; D García-Prats, María; Sanchez, Manuel; Valdivia, Gabriel; Porru, Stefano; Benhamou, Simone; Hoover, Robert N; Fraumeni, Joseph F; Silverman, Debra T; Chanock, Stephen J

    2010-11-01

    We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10⁻¹²) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10⁻¹¹) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10⁻⁷) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10⁻¹¹) and a tag SNP for NAT2 acetylation status (P = 4 × 10⁻¹¹), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis. PMID:20972438

  5. Ferromagnetic quantum phase transition in an itinerant three-dimensional system

    NASA Astrophysics Data System (ADS)

    Saha, Ronojoy; Maslov, Dmitrii; Chubukov, Andrey

    2006-03-01

    The non-analytic behavior of the spin susceptibility both away and near the quantum critical point signals the breakdown of the Hertz-Millis scenario for a ferromagnetic quantum phase transition in itinerant systems. It is believed that in both 2D and 3D χs increases as a function of the magnetic field (H) or momentum (q), which indicates a tendency to either first order transition or ordering at finite q. We show that the 3D case is different from the 2D one. Away from the 3D critical point, the non-analytic part of χs can be of either sign, depending on microscopic parameters. The non-analyticity in 3D arises from two physically distinct processes: excitations of a single and three particle-hole pairs. Both processes contribute a maxH^2,q^2H^2,q^2 term to χs, but the signs of these contributions are opposite. The single-pair process leads to an increase of χs with H,q whereas the three pair one corresponds to a decrease. In the paramagnon model, the three pair contribution always wins sufficiently close to the Stoner instability. We also discuss the behavior of χs in the immediate vicinity of the quantum critical point within the spin-fermion model.

  6. Suppression of KV7/KCNQ potassium channel enhances neuronal differentiation of PC12 cells.

    PubMed

    Zhou, Najing; Huang, Sha; Li, Li; Huang, Dongyang; Yan, Yunli; Du, Xiaona; Zhang, Hailin

    2016-10-01

    Membrane potential shift driven by electrical activity is critical in determining the cell fate of proliferation or differentiation. As such, the ion channels that underlie the membrane electrical activity play an important role in cell proliferation/differentiation. KV7/KCNQ potassium channels are critical in determining the resting membrane potentials in many neuronal cells. However, the role of these channels in cell differentiation is not well studied. In the present study, we used PC12 cells as well as primary cultured rat cortical neurons to study the role and mechanism of KV7/KCNQ in neuronal differentiation. NGF induced PC12 cell differentiation into neuron-like cells with growth of neurites showing typical growth cone-like extensions. The Kv7/KCNQ blocker XE991 promoted NGF-induced neurite outgrowth, whereas Kv7/KCNQ opener retigabine (RTG) inhibited outgrowth. M-type Kv7 channels are likely involved in regulating neurite growth because overexpression of KCNQ2/Q3 inhibited neurite growth whereas suppression of KCNQ2/Q3 with shRNA promoted neurite growth. Membrane depolarization possibly underpins enhanced neurite growth induced by the suppression of Kv7/KCNQ. Additionally, high extracellular K(+) likely induced membrane depolarization and also promoted neurite growth. Finally, T-type Ca(2+) channels may be involved in membrane-depolarization-induced neurite growth. This study provides a new perspective for understanding neuronal differentiation as well as KV7/KCNQ channel function. PMID:27450567

  7. Isolation of region-specific cosmids by hybridization with microdissection clones from human chromosome 10q11. 1-q21. 1

    SciTech Connect

    Karakawa, Katsu; Takami, Koji; Fujita, Shoichi Osaka Univ. Medical School, Fukushima-ku, Osaka ); Nakamura, Tsutomu; Takai, Shin-ichiro; Nishisho, Isamu ); Jones, C. ); Ohta, Tohru; Jinno, Yoshihiro; Niikawa, Norio )

    1993-08-01

    A region-specific plasmid library composed of 20,000 recombinants was constructed by microdissection of human chromosome 10 (10q11.2-q21.1) and subsequent amplification with the primer-linker method of polymerase chain reaction (PCR). Hybridization with total human DNA showed that 32 of 217 microclones studied contained highly repetitive sequences. Further analysis of the remaining 185 microclones proved that 43 microclones, each having an insert longer than 200 bp, contained unique sequences of human chromosome 10 origin. Twenty-five microclones randomly selected from the 43 were used directly as probes to isolate corresponding cosmid clones, resulting in 32 cosmids corresponding to 14 microclones. Of the 25 cosmids that could be mapped by fluorescence in situ hybridization, 24 proved to originate from the microdissected or adjacent region (10p11.2-q22.3)and 1 from a rather distal region (10q24.3-q25.1). In addition, 15 of the 32 cosmids revealed restriction fragment length polymorphisms, including 1 with a variable number of tandem repeats marker. The microdissection library and the obtained cosmids are valuable resources for constructing high-resolution physical and linkage maps of the pericentromeric region of chromosome 10, where the gene predisposing to multiple endocrine neoplasia type 2A (MEN2A) has been mapped. 30 refs., 3 figs., 3 tabs.

  8. The human ovarian teratocarcinoma cell line PA-1 demonstrates a single translocation: analysis with fluorescence in situ hybridization, spectral karyotyping, and bacterial artificial chromosome microarray.

    PubMed

    Sarraf, Shireen; Tejada, Raphael; Abawi, Massih; Oberst, Michael; Dennis, Tom; Simon, Kelly Claire; Blancato, Jan

    2005-08-01

    Cell lines derived from tumors contain numerous chromosomal aberrations and are the focus of study in tumor evolution. The ovarian teratocarcinoma cell line PA-1 demonstrates a single chromosomal aberration: a reciprocal t(15;20)(p11.2;q11.2). A complete molecular genetic analysis was undertaken to characterize this cell line. The PA-1 cell line was studied with fluorescence in situ hybridization (FISH), spectral karyotyping (SKY), bacterial artificial chromosome (BAC) microarray, and Western blotting. Amplification of 20q is frequently implicated in both breast and ovarian cancer; this region contains a number of oncogenes including MDM2, ZNF217, and the ovarian tumor marker WFDC2 (alias HE4). FISH revealed gene amplification of AIB1 (now known as NCOA3) but not STK15 (now known as AURKA). Immunoblot analysis demonstrated 3.6-fold overexpression of the AIB1 protein product, but no elevation of the STK15. BAC cancer gene microarray analysis showed gene amplification of > or =1.20 for five oncogenes. The presence of a consistent single change in PA-1, the t(15;20)(p11.2;q11.2), suggests that the aberration is significant with respect to the transformation status of the cell line. This translocation appears to cause overexpression of AIB1 (and perhaps other proteins), which may provide an immortalizing effect on this cell line. PMID:16080959

  9. Relation between minimum-error discrimination and optimum unambiguous discrimination

    SciTech Connect

    Qiu Daowen; Li Lvjun

    2010-09-15

    In this paper, we investigate the relationship between the minimum-error probability Q{sub E} of ambiguous discrimination and the optimal inconclusive probability Q{sub U} of unambiguous discrimination. It is known that for discriminating two states, the inequality Q{sub U{>=}}2Q{sub E} has been proved in the literature. The main technical results are as follows: (1) We show that, for discriminating more than two states, Q{sub U{>=}}2Q{sub E} may not hold again, but the infimum of Q{sub U}/Q{sub E} is 1, and there is no supremum of Q{sub U}/Q{sub E}, which implies that the failure probabilities of the two schemes for discriminating some states may be narrowly or widely gapped. (2) We derive two concrete formulas of the minimum-error probability Q{sub E} and the optimal inconclusive probability Q{sub U}, respectively, for ambiguous discrimination and unambiguous discrimination among arbitrary m simultaneously diagonalizable mixed quantum states with given prior probabilities. In addition, we show that Q{sub E} and Q{sub U} satisfy the relationship that Q{sub U{>=}}(m/m-1)Q{sub E}.

  10. Novel Association Between Immune-Mediated Susceptibility Loci and Persistent Autoantibody Positivity in Type 1 Diabetes.

    PubMed

    Brorsson, Caroline A; Onengut, Suna; Chen, Wei-Min; Wenzlau, Janet; Yu, Liping; Baker, Peter; Williams, Alistair J K; Bingley, Polly J; Hutton, John C; Eisenbarth, George S; Concannon, Patrick; Rich, Stephen S; Pociot, Flemming

    2015-08-01

    Islet autoantibodies detected at disease onset in patients with type 1 diabetes are signs of an autoimmune destruction of the insulin-producing β-cells. To further investigate the genetic determinants of autoantibody positivity, we performed dense immune-focused genotyping on the Immunochip array and tested for association with seven disease-specific autoantibodies in a large cross-sectional cohort of 6,160 type 1 diabetes-affected siblings. The genetic association with positivity for GAD autoantibodies (GADAs), IA2 antigen (IA-2A), zinc transporter 8, thyroid peroxidase, gastric parietal cells (PCAs), tissue transglutaminase, and 21-hydroxylase was tested using a linear mixed-model regression approach to simultaneously control for population structure and family relatedness. Four loci were associated with autoantibody positivity at genome-wide significance. Positivity for GADA was associated with 3q28/LPP, for IA-2A with 1q23/FCRL3 and 11q13/RELA, and for PCAs with 2q24/IFIH1. The 3q28 locus showed association after only 3 years duration and might therefore be a marker of persistent GADA positivity. The 1q23, 11q13, and 2q24 loci were associated with autoantibodies close to diabetes onset and constitute candidates for early screening. Major susceptibility loci for islet autoantibodies are separate from type 1 diabetes risk, which may have consequences for intervention strategies to reduce autoimmunity. PMID:25829454

  11. 14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype.

    PubMed

    Gentile, Mattia; De Mattia, Delia; Pansini, Angela; Schettini, Federico; Buonadonna, Antonia Lucia; Capozza, Manuela; Ficarella, Romina; Laforgia, Nicola

    2016-07-01

    Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder whose associated phenotype is heterogeneous, depending on the size, and, mostly, on the deleted region. We report the clinical and molecular characterization of a female newborn, whose phenotype was characterized by poor growth, dysmorphic facial features, subclinical hypothyroidism, and mild reduction of CD3CD8 Lymphocytes with increased CD4/CD8 ratio. By array-CGH, we identified a 4.08 de novo interstitial deletion of the 14q13.2q21.1 region, which includes 16 OMIM genes.Our patient phenotype is compared with other published cases, for a better classification of the 14q11-q22 deletion syndrome. We demonstrated that the 14q13.2q21.1 deletion, which encompasses NKX2-1, but not FOXG1 gene and HPE8 region, identifies a well defined, more benign, microdeletion syndrome. This report confirms that an early identification with accurate characterization of the genomic disorders is of great relevance, enabling proper genetic counseling of the reproductive risk, as well as disease prognosis, and patient management. © 2016 Wiley Periodicals, Inc. PMID:27148860

  12. Smoothed low rank and sparse matrix recovery by iteratively reweighted least squares minimization.

    PubMed

    Lu, Canyi; Lin, Zhouchen; Yan, Shuicheng

    2015-02-01

    This paper presents a general framework for solving the low-rank and/or sparse matrix minimization problems, which may involve multiple nonsmooth terms. The iteratively reweighted least squares (IRLSs) method is a fast solver, which smooths the objective function and minimizes it by alternately updating the variables and their weights. However, the traditional IRLS can only solve a sparse only or low rank only minimization problem with squared loss or an affine constraint. This paper generalizes IRLS to solve joint/mixed low-rank and sparse minimization problems, which are essential formulations for many tasks. As a concrete example, we solve the Schatten-p norm and l2,q-norm regularized low-rank representation problem by IRLS, and theoretically prove that the derived solution is a stationary point (globally optimal if p,q ≥ 1). Our convergence proof of IRLS is more general than previous one that depends on the special properties of the Schatten-p norm and l2,q-norm. Extensive experiments on both synthetic and real data sets demonstrate that our IRLS is much more efficient. PMID:25531948

  13. Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1.

    PubMed

    Chevalier-Porst, Françoise; Rolland, Marie-Odile; Cochat, Pierre; Bozon, Dominique

    2005-01-01

    Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder of glyoxylate metabolism, in which excessive oxalates are formed by the liver and excreted by the kidneys, causing a wide spectrum of disease, ranging from renal failure in infancy to mere renal stones in late adulthood. This disease is caused by a deficiency of alanine:glyoxylate aminotransferase (AGT), which is encoded by a single copy gene, AGXT, located in 2q37.3. We identified an apparently homozygous, loss-of-function, mutation in a patient; the gene defect was present in the heterozygous mother but not in the patient's father. We performed a microsatellite repeat analysis using 13 specific chromosome 2 markers and non-chromosome 2 minisatellites. Six specific chromosome 2 markers showed an apparently homozygous maternal inheritance while four showed a biparental transmission consistent with paternity (confirmed by minisatellite analysis). Quantitative PCR of AGXT exons 1 and 3 on the patient's and parents genomic DNA revealed the presence of two copies of the gene. This is the first case of PH1 caused by segmental maternal isodisomy of 2q37.3. PMID:15580638

  14. On fractional Schro{sup ¨}dinger equation in R{sup N} with critical growth

    SciTech Connect

    Shang, Xudong E-mail: yynjnu@126.com; Zhang, Jihui; Yang, Yang E-mail: yynjnu@126.com

    2013-12-15

    In this paper, we study the following nonlinear fractional Schro{sup ¨}dinger equation with critical exponent h{sup 2α}(−Δ){sup α}u+V(x)u=|u|{sup 2{sub α}{sup *−2}}u+λ|u|{sup q−2}u,x∈R{sup N}, where h is a small positive parameter, 0 < α < 1, 2<q<2{sub α}{sup *}, 2{sub α}{sup *}=(2N)/(N−2α) is the critical Sobolev exponent, and N > 2α, λ > 0 is a parameter. The potential V:R{sup N}→R is a positive continuous function satisfying some natural assumptions. By using variational methods, we obtain the existence of solutions in the following case: if 2<q<2{sub α}{sup *}, there exists λ{sub 0} > 0 such that for all λ ⩾ λ{sub 0}, we show that it has one nontrivial solution and there exist at least cat{sub Λ{sub δ}}(Λ) nontrivial solutions; if max(2,(4α)/(N−2α) ) 0.

  15. Genetic aspects of preeclampsia and the HELLP syndrome.

    PubMed

    Haram, Kjell; Mortensen, Jan Helge; Nagy, Bálint

    2014-01-01

    Both preeclampsia and the HELLP syndrome have their origin in the placenta. The aim of this study is to review genetic factors involved in development of preeclampsia and the HELLP syndrome using literature search in PubMed. A familial cohort links chromosomes 2q, 5q, and 13q to preeclampsia. The chromosome 12q is coupled with the HELLP syndrome. The STOX1 gene, the ERAP1 and 2 genes, the syncytin envelope gene, and the -670 Fas receptor polymorphisms are involved in the development of preeclampsia. The ACVR2A gene on chromosome 2q22 is also implicated. The toll-like receptor-4 (TLR-4) and factor V Leiden mutation participate both in development of preeclampsia and the HELLP syndrome. Carriers of the TT and the CC genotype of the MTHFR C677T polymorphism seem to have an increased risk of the HELLP syndrome. The placental levels of VEGF mRNA are reduced both in women with preeclampsia and in women with the HELLP syndrome. The BclI polymorphism is engaged in development of the HELLP syndrome but not in development of severe preeclampsia. The ACE I/D polymorphism affects uteroplacental and umbilical artery blood flows in women with preeclampsia. In women with preeclampsia and the HELLP syndrome several genes in the placenta are deregulated. Preeclampsia and the HELLP syndrome are multiplex genetic diseases. PMID:24991435

  16. Updates on the studies of N* structure with CLAS and the prospects with CLAS12

    DOE PAGESBeta

    Mokeev, V. I.

    2016-06-16

    Here, the recent results onmore » $$\\gamma_vpN^*$$ electrocouplings from analyses of the data on exclusive meson electroproduction off protons measured with the CLAS detector at Jefferson Lab are presented. The impact of these results on the exploration of the excited nucleon state structure and non-perturbative strong interaction dynamics behind its formation is outlined. The future extension of these studies in the experiments with the CLAS12 detector in the upgraded Hall-B at JLab will provide for the first time $$\\gamma_vpN^*$$ electrocouplings of all prominent resonances at the still unexplored distance scales that correspond to extremely low (0.05~GeV$^2 < Q^2 <$ 0.5~GeV$^2$) and the highest photon virtualities (5.0~GeV$^2 < Q^2 <$ 12.0~GeV$^2$) ever achieved in the exclusive electroproduction measurements. The expected results will address the most important open problems of the Standard Model: on the nature of more than 98\\% of hadron mass, quark-gluon confinement and emergence of the excited nucleon state structure from the QCD Lagrangian, as well as allowing a search for the new states of hadron matter predicted from the first principles of QCD, the so-called hybrid baryons.« less

  17. The electronic structure of Fe2+ in reaction centers from Rhodopseudomonas sphaeroides. II. Extended x-ray fine structure studies.

    PubMed Central

    Eisenberger, P; Okamura, M Y; Feher, G

    1982-01-01

    Extended x-ray absorption fine structure (EXAFS) studies were performed on reaction centers (RC) of the photosynthetic bacterium Rhodopseudomonas sphaeroides R-26. RC containing two, one, and no quinones (2Q, 1Q, 0Q) samples were studied. The average ligand distance of the first coordination shell was determined to be 2.10 +/- 0.02 A with a more distant shell at 4.14 +/- 0.05 A. The Fe2+ site in RC was found to have a very large structural disorder parameter, from which a spread in ligand distance per iron site of approximately +/- 0.1 A was deduced. The most likely coordination number of the first shell is six, with a mixture of oxygens and nitrogens as ligands. The edge absorption results are consistent with the Fe2+ being in distorted octahedral environment. The EXAFS spectra of the 2Q and 1Q samples with and without O-phenanthroline were found to be the same. This indicates that either the secondary quinone and o-phenanthroline do not bind to Fe2+ or that they replace an equivalent ligand. The 0Q sample showed a 12% decrease in the EXAFS amplitude, which was restored upon addition of o-phenanthroline. These results can be explained by either a loss of a ligand or a severe conformational change when the primary quinone was removed. PMID:6977381

  18. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.

    PubMed

    Couch, Fergus J; Kuchenbaecker, Karoline B; Michailidou, Kyriaki; Mendoza-Fandino, Gustavo A; Nord, Silje; Lilyquist, Janna; Olswold, Curtis; Hallberg, Emily; Agata, Simona; Ahsan, Habibul; Aittomäki, Kristiina; Ambrosone, Christine; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Arun, Banu K; Arver, Brita; Barile, Monica; Barkardottir, Rosa B; Barrowdale, Daniel; Beckmann, Lars; Beckmann, Matthias W; Benitez, Javier; Blank, Stephanie V; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Bolla, Manjeet K; Bonanni, Bernardo; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Buys, Saundra S; Caldes, Trinidad; Caligo, Maria A; Canzian, Federico; Carpenter, Jane; Chang-Claude, Jenny; Chanock, Stephen J; Chung, Wendy K; Claes, Kathleen B M; Cox, Angela; Cross, Simon S; Cunningham, Julie M; Czene, Kamila; Daly, Mary B; Damiola, Francesca; Darabi, Hatef; de la Hoya, Miguel; Devilee, Peter; Diez, Orland; Ding, Yuan C; Dolcetti, Riccardo; Domchek, Susan M; Dorfling, Cecilia M; Dos-Santos-Silva, Isabel; Dumont, Martine; Dunning, Alison M; Eccles, Diana M; Ehrencrona, Hans; Ekici, Arif B; Eliassen, Heather; Ellis, Steve; Fasching, Peter A; Figueroa, Jonine; Flesch-Janys, Dieter; Försti, Asta; Fostira, Florentia; Foulkes, William D; Friebel, Tara; Friedman, Eitan; Frost, Debra; Gabrielson, Marike; Gammon, Marilie D; Ganz, Patricia A; Gapstur, Susan M; Garber, Judy; Gaudet, Mia M; Gayther, Simon A; Gerdes, Anne-Marie; Ghoussaini, Maya; Giles, Graham G; Glendon, Gord; Godwin, Andrew K; Goldberg, Mark S; Goldgar, David E; González-Neira, Anna; Greene, Mark H; Gronwald, Jacek; Guénel, Pascal; Gunter, Marc; Haeberle, Lothar; Haiman, Christopher A; Hamann, Ute; Hansen, Thomas V O; Hart, Steven; Healey, Sue; Heikkinen, Tuomas; Henderson, Brian E; Herzog, Josef; Hogervorst, Frans B L; Hollestelle, Antoinette; Hooning, Maartje J; Hoover, Robert N; Hopper, John L; Humphreys, Keith; Hunter, David J; Huzarski, Tomasz; Imyanitov, Evgeny N; Isaacs, Claudine; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M; Jones, Michael; Kabisch, Maria; Kar, Siddhartha; Karlan, Beth Y; Khan, Sofia; Khaw, Kay-Tee; Kibriya, Muhammad G; Knight, Julia A; Ko, Yon-Dschun; Konstantopoulou, Irene; Kosma, Veli-Matti; Kristensen, Vessela; Kwong, Ava; Laitman, Yael; Lambrechts, Diether; Lazaro, Conxi; Lee, Eunjung; Le Marchand, Loic; Lester, Jenny; Lindblom, Annika; Lindor, Noralane; Lindstrom, Sara; Liu, Jianjun; Long, Jirong; Lubinski, Jan; Mai, Phuong L; Makalic, Enes; Malone, Kathleen E; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; Martens, John W M; McGuffog, Lesley; Meindl, Alfons; Miller, Austin; Milne, Roger L; Miron, Penelope; Montagna, Marco; Mazoyer, Sylvie; Mulligan, Anna M; Muranen, Taru A; Nathanson, Katherine L; Neuhausen, Susan L; Nevanlinna, Heli; Nordestgaard, Børge G; Nussbaum, Robert L; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I; Olson, Janet E; Osorio, Ana; Park, Sue K; Peeters, Petra H; Peissel, Bernard; Peterlongo, Paolo; Peto, Julian; Phelan, Catherine M; Pilarski, Robert; Poppe, Bruce; Pylkäs, Katri; Radice, Paolo; Rahman, Nazneen; Rantala, Johanna; Rappaport, Christine; Rennert, Gad; Richardson, Andrea; Robson, Mark; Romieu, Isabelle; Rudolph, Anja; Rutgers, Emiel J; Sanchez, Maria-Jose; Santella, Regina M; Sawyer, Elinor J; Schmidt, Daniel F; Schmidt, Marjanka K; Schmutzler, Rita K; Schumacher, Fredrick; Scott, Rodney; Senter, Leigha; Sharma, Priyanka; Simard, Jacques; Singer, Christian F; Sinilnikova, Olga M; Soucy, Penny; Southey, Melissa; Steinemann, Doris; Stenmark-Askmalm, Marie; Stoppa-Lyonnet, Dominique; Swerdlow, Anthony; Szabo, Csilla I; Tamimi, Rulla; Tapper, William; Teixeira, Manuel R; Teo, Soo-Hwang; Terry, Mary B; Thomassen, Mads; Thompson, Deborah; Tihomirova, Laima; Toland, Amanda E; Tollenaar, Robert A E M; Tomlinson, Ian; Truong, Thérèse; Tsimiklis, Helen; Teulé, Alex; Tumino, Rosario; Tung, Nadine; Turnbull, Clare; Ursin, Giski; van Deurzen, Carolien H M; van Rensburg, Elizabeth J; Varon-Mateeva, Raymonda; Wang, Zhaoming; Wang-Gohrke, Shan; Weiderpass, Elisabete; Weitzel, Jeffrey N; Whittemore, Alice; Wildiers, Hans; Winqvist, Robert; Yang, Xiaohong R; Yannoukakos, Drakoulis; Yao, Song; Zamora, M Pilar; Zheng, Wei; Hall, Per; Kraft, Peter; Vachon, Celine; Slager, Susan; Chenevix-Trench, Georgia; Pharoah, Paul D P; Monteiro, Alvaro A N; García-Closas, Montserrat; Easton, Douglas F; Antoniou, Antonis C

    2016-01-01

    Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction. PMID:27117709

  19. Suppression laws for multiparticle interference in Sylvester interferometers

    NASA Astrophysics Data System (ADS)

    Crespi, Andrea

    2015-01-01

    Quantum interference of correlated particles is a fundamental quantum phenomenon which carries signatures of the statistics properties of the particles, such as bunching or antibunching. In the presence of particular symmetries, interference effects take place with high visibility, one of the simplest cases being the suppression of coincident detection in the Hong-Ou-Mandel effect. Tichy et al., [Phys. Rev. Lett. 104, 220405 (2010), 10.1103/PhysRevLett.104.220405] recently demonstrated a simple sufficient criterion for the suppression of output events in the more general case of Fourier multiport beam splitters. Here we study the case in which 2q particles (either bosonic or fermionic) are injected simultaneously in different ports of a Sylvester interferometer with 2p≥2q modes. In particular, we prove a necessary and sufficient criterion for a significant fraction of output states to be suppressed, for specific input configurations. This may find application in assessing the indistinguishability of multiple single-photon sources and in the validation of boson sampling machines.

  20. ADP-ribosylation factor-like 4C (ARL4C), a novel ovarian cancer metastasis suppressor, identified by integrated genomics

    PubMed Central

    Su, Dan; Katsaros, Dionyssios; Xu, Shenhua; Xu, Haiyan; Gao, Yun; Biglia, Nicoletta; Feng, Jianguo; Ying, Lisha; Zhang, Ping; Benedetto, Chiara; Yu, Herbert

    2015-01-01

    Understanding the molecular mechanisms involving the initiation, progression, and metastasis of ovarian cancer is important for the prevention, detection, and treatment of ovarian cancer. In this study, two ovarian cancer cell lines, HO-8910 and its derivative HO-8910PM with highly metastatic potential, were applied to comparative genomic hybridization (CGH) analysis. We found 14 chromosome fragments with different copy numbers between the two cell lines, one (2q36.1-37.3) of which was confirmed to be one-copy loss in HO-8910PM by fluorescent in situ hybridization (FISH). Using the microarray data on gene expression profiles from these cell lines, 6 significantly expression-decreased genes located on 2q36.1-37.3 in HO-8910PM were identified. Of the 6 genes, ARL4C was identified as a novel ovarian cancer-related gene using integrated molecular and genomic analyses. ARL4C mRNA expression was validated by quantitative PCR to be markedly decreased in HO-8910PM cells, compared to that in HO-8910. Both overexpression and knockdown of ARL4C demonstrated that low ARL4C expression promotes the migration but not influences proliferation capability of ovarian cancer cells in vitro, indicating its specific role in ovarian cancer progression. Furthermore, ovarian cancer patients with medium and high expression of ARL4C mRNA had a favorable prognosis compared to those with low expression, suggesting the ARL4C could be a potential predictor for ovarian cancer prognosis. PMID:25901194

  1. Treatment of a slaughterhouse wastewater: effect of internal recycle rate on chemical oxygen demand, total Kjeldahl nitrogen and total phosphorus removal.

    PubMed

    Fongsatitkul, P; Wareham, D G; Elefsiniotis, P; Charoensuk, P

    2011-12-01

    This study investigated the ability of an anaerobic/anoxic/oxic (A2/O) system to treat a slaughterhouse wastewater. The system employed two identical continuous-flow reactors (101 total liquid volume each) running in parallel with the main operational variable, being the internal recycle (IR) rate. The chemical oxygen demand (COD), total Kjeldahl nitrogen (TKN) and total phosphorus (TP) performance was evaluated as the IR flowrate was increased from a Q of 151d(-1) to 4Q at a system hydraulic retention time of 16 h and a solids retention time of 10 d. The COD:TKN and COD:TP ratios were 8.2:1 and 54:1, which supported both nitrogen and phosphorus removal. For all IR multiples of Q, the COD removal was in excess of 90%. The TKN removal showed a modest improvement (a 4-5% increase, depending on the dissolved oxygen (DO)) as the IR doubled from Q to 2Q, but no further increase was observed at the 4Q IR rate. The TP removal reached its optimum (around 85%-89% (again depending on the DO)) at the 2Q rate. PMID:22439562

  2. Updates on the Studies of {\\varvec{N}}^{*} Structure with CLAS and the Prospects with CLAS12

    NASA Astrophysics Data System (ADS)

    Mokeev, V. I.

    2016-06-01

    The recent results on γ _vpN^* electrocouplings from analyses of the data on exclusive meson electroproduction off protons measured with the CLAS detector at Jefferson Lab are presented. The impact of these results on the exploration of the excited nucleon state structure and non-perturbative strong interaction dynamics behind its formation is outlined. The future extension of these studies in the experiments with the CLAS12 detector in the upgraded Hall-B at JLab will provide for the first time γ _vpN^* electrocouplings of all prominent resonances at the still unexplored distance scales that correspond to extremely low (0.05 GeV^2 < Q^2< 0.5 GeV^2 ) and the highest photon virtualities (5.0 GeV^2 < Q^2< 12.0 GeV^2 ) ever achieved in the exclusive electroproduction measurements. The expected results will address the most important open problems of the Standard Model: on the nature of more than 98 % of hadron mass, quark-gluon confinement and emergence of the excited nucleon state structure from the QCD Lagrangian, as well as allowing a search for the new states of hadron matter predicted from the first principles of QCD, the so-called hybrid baryons.

  3. Synthesis and Crystallographic Insight into the Structural Aspects of Some Novel Adamantane-Based Ester Derivatives.

    PubMed

    Kumar, C S Chidan; Kwong, Huey Chong; Mah, Siau Hui; Chia, Tze Shyang; Loh, Wan-Sin; Quah, Ching Kheng; Lim, Gin Keat; Chandraju, Siddegowda; Fun, Hoong-Kun

    2015-01-01

    Adamantyl-based compounds are commercially important in the treatments for neurological conditions and type-2 diabetes, aside from their anti-viral abilities. Their values in drug design are chronicled as multi-dimensional. In the present study, a series of 2-(adamantan-1-yl)-2-oxoethyl benzoates, 2(a-q), and 2-(adamantan-1-yl)-2-oxoethyl 2-pyridinecarboxylate, 2r, were synthesized by reacting 1-adamantyl bromomethyl ketone with various carboxylic acids using potassium carbonate in dimethylformamide medium at room temperature. Three-dimensional structures studied using X-ray diffraction suggest that the adamantyl moiety can serve as an efficient building block to synthesize 2-oxopropyl benzoate derivatives with synclinal conformation with a looser-packed crystal packing system. Compounds 2a, 2b, 2f, 2g, 2i, 2j, 2m, 2n, 2o, 2q and 2r exhibit strong antioxidant activities in the hydrogen peroxide radical scavenging test. Furthermore, three compounds, 2p, 2q and 2r, show good anti-inflammatory activities in the evaluation of albumin denaturation. PMID:26501248

  4. Follow-up to genome-wide linkage and admixture mapping studies implicates components of the extracellular matrix in susceptibility to and size of uterine fibroids

    PubMed Central

    Aissani, Brahim; Zhang, Kui; Wiener, Howard

    2014-01-01

    Objective To conduct a follow-up association mapping to independent genome-wide linkage and admixture mapping studies of uterine leiomyoma. Design Case-control study. Setting Cross sectional study. Patients A total of 1,045 premenopausal North American women participants to the NIEHS uterine fibroid study. Intervention(s) None. Main Outcome Measure(s) We genotyped 2,772 single nucleotide polymorphisms from candidate genes located in peaks from linkage mapping (2q37, 3p21, 5p13, 10p11, 11p15, 12q14, 17q25) or admixture linkage disequilibrium mapping (2q37, 4p16.1, 10q26) and reported to have regulated expression in uterine fibroids. Results We report significant associations of variant members of the collagen gene family with the risk and tumor size, including missense variants in COL6A3 and COL13A, with replications in the African and European American study groups. Furthermore, the cell-matrix Rho GTPase-encoding ARHGAP26 gene and MAN1C1, a gene encoding a Golgi mannosidase involved in the maturation of procollagens emerged as new candidate UL genes affecting both the risk and tumor size. Conclusion Our data converge onto a model of UL pathogenesis possibly resulting from altered regulation, maintenance and/or renewal of the extracellular matrix. PMID:25455875

  5. Measurements of the Electron-Helicity Dependent Cross Sections of Deeply Virtual Compton Scattering with CEBAF at 12 GeV

    SciTech Connect

    J. Roche; C. E. Hyde-Wright; B. Michel; C. Munoz Camacho; et al.

    2006-09-11

    We propose precision measurements of the helicity-dependent and helicity independent cross sections for the ep {yields} ep{gamma} reaction in Deeply Virtual Compton Scattering (DVCS) kinematics. DVCS scaling is obtained in the limits Q{sup 2} >> {Lambda}{sub QCD}{sup 2}, x{sub Bj} fixed, and -{Delta}{sup 2} = -(q-q{prime}){sup 2} << Q{sup 2}. We consider the specific kinematic range Q{sup 2} > 2 GeV{sup 2}, W > 2 GeV, and -{Delta}{sup 2} {le} 1 GeV{sup 2}. We will use our successful technique from the 5.75 GeV Hall A DVCS experiment (E00-110). With polarized 6.6, 8.8, and 11 GeV beams incident on the liquid hydrogen target, we will detect the scattered electron in the Hall A HRS-L spectrometer (maximum central momentum 4.3 GeV/c) and the emitted photon in a slightly expanded PbF{sub 2} calorimeter. In general, we will not detect the recoil proton. The H(e,e{prime}{gamma})X missing mass resolution is sufficient to isolate the exclusive channel with 3% systematic precision.

  6. E2C(R2) Periodic Benefit-Risk Evaluation Report and E2C(R2) Periodic Benefit-Risk Evaluation Report--Questions and Answers; International Council for Harmonisation; Guidances for Industry; Availability. Notice.

    PubMed

    2016-07-19

    The Food and Drug Administration (FDA or Agency) is announcing the availability of guidances for industry entitled ``E2C(R2) Periodic Benefit-Risk Evaluation'' (E2C(R2) guidance) and ``E2C(R2) Periodic Benefit-Risk Evaluation Report--Questions and Answers'' (E2C(R2) Q&A guidance). These guidances were prepared under the auspices of the International Council for Harmonisation (ICH), formerly the International Conference on Harmonisation. The E2C(R2) draft guidance, issued April 11, 2012, updated and combined two ICH guidances, ``E2C Clinical Safety Data Management: Periodic Safety Update Reports for Marketed Drugs'' (E2C guidance) and ``Addendum to E2C Clinical Safety Data Management: Periodic Safety Update Reports for Marketed Drugs'' (addendum to the E2C guidance). The E2C(R2) guidance is intended to describe the format, content, and timing of a Periodic Benefit-Risk Evaluation Report (PBRER) for an approved drug or biologic, and it finalizes the draft guidance. The E2C(R2) Q&A guidance is a supplementary guidance that is intended to clarify key issues in the E2C(R2) guidance. PMID:27459749

  7. Web-based Peer-Driven Chain Referrals for Smoking Cessation

    PubMed Central

    Sadasivam, Rajani S.; Cutrona, Sarah L.; Volz, Erik; Rao, Sowmya R.; Houston, Thomas K.

    2015-01-01

    Background We are testing web-based respondent-driven sampling (RDS) chain referrals to recruit smokers to the Decide2Quit.org (D2Q) web-assisted tobacco intervention. Methods Using an online survey of smokers, we assessed the potential of recruiting 1200 smokers in 9 months using RDS chain referrals. RDS is a complex sample design, and many factors can influence its success. We conducted simulations to determine the design of optimal RDS chains. Results Smokers (n=48) were mostly female (72%) and between ages 30–60 (82%). Estimation of smokers in their network: 1–5 (40%), 6–10 (24%), and 10–20 (22%), with mean number of intimate family (2.2, SD=2.1) and close friend smokers (3.7, SD=3.8). Most smokers (82%) were willing to refer to D2Q and thought their friends (mean=5.0, SD=4.4, range=0–20) would be open to referral. Simulations suggested that with a quota of 3 and 10 seeds, 99.9% of the sample would be achieved in 107 days if the acceptance probability was 0.5. Acceptance probability of 25% would necessitate an increased quota. Conclusions Our study suggests that it is possible to recruit smokers using RDS. PMID:23920576

  8. Thermal conduction by dark matter with velocity and momentum-dependent cross-sections

    SciTech Connect

    Vincent, Aaron C.; Scott, Pat E-mail: patscott@physics.mcgill.ca

    2014-04-01

    We use the formalism of Gould and Raffelt [1] to compute the dimensionless thermal conduction coefficients for scattering of dark matter particles with standard model nucleons via cross-sections that depend on the relative velocity or momentum exchanged between particles. Motivated by models invoked to reconcile various recent results in direct detection, we explicitly compute the conduction coefficients α and κ for cross-sections that go as v{sub rel}{sup 2}, v{sub rel}{sup 4}, v{sub rel}{sup −2}, q{sup 2}, q{sup 4} and q{sup −2}, where v{sub rel} is the relative DM-nucleus velocity and q is the momentum transferred in the collision. We find that a v{sub rel}{sup −2} dependence can significantly enhance energy transport from the inner solar core to the outer core. The same can true for any q-dependent coupling, if the dark matter mass lies within some specific range for each coupling. This effect can complement direct searches for dark matter; combining these results with state-of-the-art solar simulations should greatly increase sensitivity to certain DM models. It also seems possible that the so-called Solar Abundance Problem could be resolved by enhanced energy transport in the solar core due to such velocity- or momentum-dependent scatterings.

  9. IL-1 gene cluster is not linked to aggressive periodontitis.

    PubMed

    Scapoli, C; Borzani, I; Guarnelli, M E; Mamolini, E; Annunziata, M; Guida, L; Trombelli, L

    2010-05-01

    The interleukin-1 (IL-1) gene family has been associated with susceptibility to periodontal diseases, including aggressive periodontitis (AgP); however, the results are still conflicting. The present study investigated the association between IL-1 genes and AgP using 70 markers spanning the 1.1-Mb region, where the IL-1 gene family maps, and exploring both the linkage disequilibrium (LD) and the haplotype structure in a case-control study including 95 patients and 121 control individuals. No association between AgP and IL1A, IL1B, and IL1RN genes was found in either single-point or haplotype analyses. Also, the LD map of the region 2q13-14 under the Malécot model for multiple markers showed no causal association between AgP and polymorphisms within the region (p = 0.207). In conclusion, our findings failed to support the existence of a causative variant for generalized AgP within the 2q13-14 region in an Italian Caucasian population. PMID:20335539

  10. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

    PubMed Central

    Couch, Fergus J.; Kuchenbaecker, Karoline B.; Michailidou, Kyriaki; Mendoza-Fandino, Gustavo A.; Nord, Silje; Lilyquist, Janna; Olswold, Curtis; Hallberg, Emily; Agata, Simona; Ahsan, Habibul; Aittomäki, Kristiina; Ambrosone, Christine; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Arun, Banu K.; Arver, Brita; Barile, Monica; Barkardottir, Rosa B.; Barrowdale, Daniel; Beckmann, Lars; Beckmann, Matthias W.; Benitez, Javier; Blank, Stephanie V.; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Stig E.; Bolla, Manjeet K.; Bonanni, Bernardo; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Buys, Saundra S.; Caldes, Trinidad; Caligo, Maria A.; Canzian, Federico; Carpenter, Jane; Chang-Claude, Jenny; Chanock, Stephen J.; Chung, Wendy K.; Claes, Kathleen B. M.; Cox, Angela; Cross, Simon S.; Cunningham, Julie M.; Czene, Kamila; Daly, Mary B.; Damiola, Francesca; Darabi, Hatef; de la Hoya, Miguel; Devilee, Peter; Diez, Orland; Ding, Yuan C.; Dolcetti, Riccardo; Domchek, Susan M.; Dorfling, Cecilia M.; dos-Santos-Silva, Isabel; Dumont, Martine; Dunning, Alison M.; Eccles, Diana M.; Ehrencrona, Hans; Ekici, Arif B.; Eliassen, Heather; Ellis, Steve; Fasching, Peter A.; Figueroa, Jonine; Flesch-Janys, Dieter; Försti, Asta; Fostira, Florentia; Foulkes, William D.; Friebel, Tara; Friedman, Eitan; Frost, Debra; Gabrielson, Marike; Gammon, Marilie D.; Ganz, Patricia A.; Gapstur, Susan M.; Garber, Judy; Gaudet, Mia M.; Gayther, Simon A.; Gerdes, Anne-Marie; Ghoussaini, Maya; Giles, Graham G.; Glendon, Gord; Godwin, Andrew K.; Goldberg, Mark S.; Goldgar, David E.; González-Neira, Anna; Greene, Mark H.; Gronwald, Jacek; Guénel, Pascal; Gunter, Marc; Haeberle, Lothar; Haiman, Christopher A.; Hamann, Ute; Hansen, Thomas V. O.; Hart, Steven; Healey, Sue; Heikkinen, Tuomas; Henderson, Brian E.; Herzog, Josef; Hogervorst, Frans B. L.; Hollestelle, Antoinette; Hooning, Maartje J.; Hoover, Robert N.; Hopper, John L.; Humphreys, Keith; Hunter, David J.; Huzarski, Tomasz; Imyanitov, Evgeny N.; Isaacs, Claudine; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M.; Jones, Michael; Kabisch, Maria; Kar, Siddhartha; Karlan, Beth Y.; Khan, Sofia; Khaw, Kay-Tee; Kibriya, Muhammad G.; Knight, Julia A.; Ko, Yon-Dschun; Konstantopoulou, Irene; Kosma, Veli-Matti; Kristensen, Vessela; Kwong, Ava; Laitman, Yael; Lambrechts, Diether; Lazaro, Conxi; Lee, Eunjung; Le Marchand, Loic; Lester, Jenny; Lindblom, Annika; Lindor, Noralane; Lindstrom, Sara; Liu, Jianjun; Long, Jirong; Lubinski, Jan; Mai, Phuong L.; Makalic, Enes; Malone, Kathleen E.; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; Martens, John W. M.; McGuffog, Lesley; Meindl, Alfons; Miller, Austin; Milne, Roger L.; Miron, Penelope; Montagna, Marco; Mazoyer, Sylvie; Mulligan, Anna M.; Muranen, Taru A.; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Nordestgaard, Børge G.; Nussbaum, Robert L.; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Olson, Janet E.; Osorio, Ana; Park, Sue K.; Peeters, Petra H.; Peissel, Bernard; Peterlongo, Paolo; Peto, Julian; Phelan, Catherine M.; Pilarski, Robert; Poppe, Bruce; Pylkäs, Katri; Radice, Paolo; Rahman, Nazneen; Rantala, Johanna; Rappaport, Christine; Rennert, Gad; Richardson, Andrea; Robson, Mark; Romieu, Isabelle; Rudolph, Anja; Rutgers, Emiel J.; Sanchez, Maria-Jose; Santella, Regina M.; Sawyer, Elinor J.; Schmidt, Daniel F.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Schumacher, Fredrick; Scott, Rodney; Senter, Leigha; Sharma, Priyanka; Simard, Jacques; Singer, Christian F.; Sinilnikova, Olga M.; Soucy, Penny; Southey, Melissa; Steinemann, Doris; Stenmark-Askmalm, Marie; Stoppa-Lyonnet, Dominique; Swerdlow, Anthony; Szabo, Csilla I.; Tamimi, Rulla; Tapper, William; Teixeira, Manuel R.; Teo, Soo-Hwang; Terry, Mary B.; Thomassen, Mads; Thompson, Deborah; Tihomirova, Laima; Toland, Amanda E.; Tollenaar, Robert A. E. M.; Tomlinson, Ian; Truong, Thérèse; Tsimiklis, Helen; Teulé, Alex; Tumino, Rosario; Tung, Nadine; Turnbull, Clare; Ursin, Giski; van Deurzen, Carolien H. M.; van Rensburg, Elizabeth J.; Varon-Mateeva, Raymonda; Wang, Zhaoming; Wang-Gohrke, Shan; Weiderpass, Elisabete; Weitzel, Jeffrey N.; Whittemore, Alice; Wildiers, Hans; Winqvist, Robert; Yang, Xiaohong R.; Yannoukakos, Drakoulis; Yao, Song; Zamora, M Pilar; Zheng, Wei; Hall, Per; Kraft, Peter; Vachon, Celine; Slager, Susan; Chenevix-Trench, Georgia; Pharoah, Paul D. P.; Monteiro, Alvaro A. N.; García-Closas, Montserrat; Easton, Douglas F.

    2016-01-01

    Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10−8) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction. PMID:27117709

  11. Test of 600 and 750 MeV NN matrix on elastic scattering Glauber model calculations

    NASA Astrophysics Data System (ADS)

    Brissaud, I.

    1980-09-01

    The 600 and 750 MeV proton nucleus elastic scattering cross section and polarization calculations have been performed in the framework of the Glauber model to test the pp and pn scattering amplitudes deduced from a phase shift analysis by Bystricky, Lechanoine and Lehar. It is well known that up to now we do not possess a non-phenomenological NN scattering matrix at intermediate energies. However proton-nucleus scattering analyses are used to extract information about short range correlations1), Δ resonance2) or pion condensation presences)... etc. Most scattering calculations made at these energies have been done with phenomenological NN amplitudes having a gaussian q-dependence 10050_2005_Article_BF01438168_TeX2GIFE1.gif A(q) = {kσ }/{4π }(α + i) e^{ - β ^2 q^2 /2} and 10050_2005_Article_BF01438168_TeX2GIFE2.gif C(q) = {kσ }/{4π }iq(α + i) D_e - β ^2 q^2 /2 K and σ being respectively the projectile momentum and the total pN total cross section. The parameters α, β and D are badly known and are adjusted by fitting some specific reactions as p+4He elastic scattering4). Even when these amplitudes provide good fits to the data, our understanding of the dynamics of the scattering remains obscure.

  12. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.

    PubMed

    Lezirovitz, Karina; Maestrelli, Sylvia Regina Pedrosa; Cotrim, Nelson Henderson; Otto, Paulo A; Pearson, Peter L; Mingroni-Netto, Regina Celia

    2008-07-01

    Split-hand/foot malformation (SHFM) associated with aplasia of long bones, SHFLD syndrome or Tibial hemimelia-ectrodactyly syndrome is a rare condition with autosomal dominant inheritance, reduced penetrance and an incidence estimated to be about 1 in 1,000,000 liveborns. To date, three chromosomal regions have been reported as strong candidates for harboring SHFLD syndrome genes: 1q42.2-q43, 6q14.1 and 2q14.2. We characterized the phenotype of nine affected individuals from a large family with the aim of mapping the causative gene. Among the nine affected patients, four had only SHFM of the hands and no tibial defects, three had both defects and two had only unilateral tibial hemimelia. In keeping with previous publications of this and other families, there was clear evidence of both variable expression and incomplete penetrance, the latter bearing hallmarks of anticipation. Segregation analysis and multipoint Lod scores calculations (maximum Lod score of 5.03 using the LINKMAP software) using all potentially informative family members, both affected and unaffected, identified the chromosomal region 17p13.1-17p13.3 as the best and only candidate for harboring a novel mutated gene responsible for the syndrome in this family. The candidate gene CRK located within this region was sequenced but no pathogenic mutation was detected. PMID:18493797

  13. Detection of a complex translocation using fluorescent in situ hybridization (FISH)

    SciTech Connect

    Rosen, B.A.; Abuelo, D.N.; Mark, H.F.

    1994-09-01

    The use of fluorescent in situ hybridization (FISH) allowed the detection of a complex 3-way translocation in a patient with multiple congenital malformations and mental retardation. The patient was a 10-year-old girl with mental retardation, seizures, repaired cleft palate, esotropia, epicanthal folds, broad nasal bridge, upward slanting palpebral fissures, single transverse palmar crease, brachydactyly, hypoplastic nails, ectrodactyly between the third and fourth right toes, and hypoplasia of the left third toe. Chromosome analysis performed at birth was reported as normal. We performed high resolution banding analysis which revealed an apparently balanced translocation between chromosomes 2 and 9. However, because of her multiple abnormalities, further studies were ordered. Fluorescent in situ hybridization (FISH) using chromosome painting probes revealed a karyotype of 46,XX,t(2;8;9) (2pter{yields}q31::8q21.2{yields}8qter; 8pter{yields}q21.2::2q31{yields}q34::9q34{yields}qter; 9pter{yields}q34::2q34{yields}qter). The 3-way translocation appears to be de novo, as neither parent is a translocation carrier. This case illustrates the importance of using FISH to further investigate cases of apparently balanced translocations in the presence of phenotypic abnormalities and/or mental retardation.

  14. Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

    PubMed Central

    Parry, David A.; Mighell, Alan J.; El-Sayed, Walid; Shore, Roger C.; Jalili, Ismail K.; Dollfus, Hélène; Bloch-Zupan, Agnes; Carlos, Roman; Carr, Ian M.; Downey, Louise M.; Blain, Katharine M.; Mansfield, David C.; Shahrabi, Mehdi; Heidari, Mansour; Aref, Parissa; Abbasi, Mohsen; Michaelides, Michel; Moore, Anthony T.; Kirkham, Jennifer; Inglehearn, Chris F.

    2009-01-01

    The combination of recessively inherited cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) was first reported by Jalili and Smith in 1988 in a family subsequently linked to a locus on chromosome 2q11, and it has since been reported in a second small family. We have identified five further ethnically diverse families cosegregating CRD and AI. Phenotypic characterization of teeth and visual function in the published and new families reveals a consistent syndrome in all seven families, and all link or are consistent with linkage to 2q11, confirming the existence of a genetically homogenous condition that we now propose to call Jalili syndrome. Using a positional-candidate approach, we have identified mutations in the CNNM4 gene, encoding a putative metal transporter, accounting for the condition in all seven families. Nine mutations are described in all, three missense, three terminations, two large deletions, and a single base insertion. We confirmed expression of Cnnm4 in the neural retina and in ameloblasts in the developing tooth, suggesting a hitherto unknown connection between tooth biomineralization and retinal function. The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI, has the potential to provide new insights into the roles of metal transport in visual function and biomineralization. PMID:19200525

  15. An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy

    SciTech Connect

    Merette, C.; Gilliam, T.C.; Brzustowicz, L.M. ); Daniels, R.J.; Davies, K.E. ); Melki, J.; Munnich, A. ); Pericak-Vance, M.A. ); Siddique, T. ); Voosen, B. )

    1994-05-01

    The authors performed linkage analysis of 161 families with spinal muscular atrophy (SMA) in which affected individuals suffer from the intermediate or mild form of the disease (Types II or III). Markers for six loci encompassing the chromosome 5q11.2-q13.3 region were typed. The best map location for the disease locus was found to be between D5S6 and MAP1B. The corresponding 1 lod unit support interval is confined to this interval and spans 0.5 cM. The data strongly support the hypothesis of linkage heterogeneity (likelihood ratio, 1.14 [times] 10[sup 4]), with 5% of the families unlinked. Four families have a probability of less than 50% of segregating the SMA gene linked to the region 5q11.2-q13.3. A likelihood approach to test for linkage disequilibrium revealed no significant departure from Hardy-Weinberg equilibrium with any marker under study. 28 refs., 4 figs., 3 tabs.

  16. Mitochondrial impairments contribute to Spinocerebellar ataxia type 1 progression and can be ameliorated by the mitochondria-targeted antioxidant MitoQ.

    PubMed

    Stucki, David M; Ruegsegger, Céline; Steiner, Silvio; Radecke, Julika; Murphy, Michael P; Zuber, Benoît; Saxena, Smita

    2016-08-01

    Spinocerebellar ataxia type 1 (SCA1), due to an unstable polyglutamine expansion within the ubiquitously expressed Ataxin-1 protein, leads to the premature degeneration of Purkinje cells (PCs), decreasing motor coordination and causing death within 10-15 years of diagnosis. Currently, there are no therapies available to slow down disease progression. As secondary cellular impairments contributing to SCA1 progression are poorly understood, here, we focused on identifying those processes by performing a PC specific proteome profiling of Sca1(154Q/2Q) mice at a symptomatic stage. Mass spectrometry analysis revealed prominent alterations in mitochondrial proteins. Immunohistochemical and serial block-face scanning electron microscopy analyses confirmed that PCs underwent age-dependent alterations in mitochondrial morphology. Moreover, colorimetric assays demonstrated impairment of the electron transport chain complexes (ETC) and decrease in ATPase activity. Subsequently, we examined whether the mitochondria-targeted antioxidant MitoQ could restore mitochondrial dysfunction and prevent SCA1-associated pathology in Sca1(154Q/2Q) mice. MitoQ treatment both presymptomatically and when symptoms were evident ameliorated mitochondrial morphology and restored the activities of the ETC complexes. Notably, MitoQ slowed down the appearance of SCA1-linked neuropathology such as lack of motor coordination as well as prevented oxidative stress-induced DNA damage and PC loss. Our work identifies a central role for mitochondria in PC degeneration in SCA1 and provides evidence for the supportive use of mitochondria-targeted therapeutics in slowing down disease progression. PMID:27394174

  17. The cored and logarithm galactic potentials: Periodic orbits and integrability

    NASA Astrophysics Data System (ADS)

    Jiménez-Lara, Lidia; Llibre, Jaume

    2012-04-01

    We apply the averaging theory of first order to study analytically families of periodic orbits for the cored and logarithmic Hamiltonians HC=12px2+py2+1+x2+y2q2-1, and HL=12px2+py2+12log1+x2+y2q2, which are relevant in the study of the galactic dynamic. We first show, after introducing a scale transformation in the coordinates and momenta with a parameter ɛ, that both systems give essentially the same set of equations of motion up to first order in ɛ. Then the conditions for finding families of periodic orbits, using the averaging theory up to first order in ɛ, apply equally for both systems in every energy level H = h > 0 with H either HC or HL. We prove the existence of two periodic orbits if q is irrational, for ɛ small enough, and we give an analytic approximation for the initial conditions of these periodic orbits. Finally, the previous periodic orbits provide information about the non-integrability of the cored and the logarithmic Hamiltonian systems.

  18. A model for the Delta(1600) resonance and gamma N -> Delta(1600) transition

    SciTech Connect

    G. Ramalho, K. Tsushima

    2010-10-01

    A covariant spectator constituent quark model is applied to study the gamma N -> Delta(1600) transition. Two processes are important in the transition: a photon couples to the individual quarks of the Delta(1600) core (quark core), and a photon couples to the intermediate pion-baryon states (pion cloud). While the quark core contributions are estimated assuming Delta(1600) as the first radial excitation of Delta(1232), the pion cloud contributions are estimated based on an analogy with the gamma N -> Delta(1232) transition. To estimate the pion cloud contributions in the gamma N -> Delta(1600) transition, we include the relevant intermediate states, pi-N, pi-Delta, pi-N(1440) and pi-Delta(1600). Dependence on the four-momentum transfer squared, Q2, is predicted for the magnetic dipole transition form factor, GM*(Q2), as well as the helicity amplitudes, A_1/2(Q2) and A_3/2(Q2). The results at Q2=0 are compared with the existing data.

  19. Model for the {Delta}(1600) resonance and {gamma}N{yields}{Delta}(1600) transition

    SciTech Connect

    Ramalho, G.; Tsushima, K.

    2010-10-01

    A covariant spectator constituent quark model is applied to study the {gamma}N{yields}{Delta}(1600) transition. Two processes are important in the transition: a photon couples to the individual quarks of the {Delta}(1600) core (quark core), and a photon couples to the intermediate pion-baryon states (pion cloud). While the quark core contributions are estimated assuming {Delta}(1600) as the first radial excitation of {Delta}(1232), the pion cloud contributions are estimated based on an analogy with the {gamma}N{yields}{Delta}(1232) transition. To estimate the pion cloud contributions in the {gamma}N{yields}{Delta}(1600) transition, we include the relevant intermediate states, {pi}N, {pi}{Delta}, {pi}N(1440) and {pi}{Delta}(1600). Dependence on the four-momentum transfer squared, Q{sup 2}, is predicted for the magnetic dipole transition form factor, G{sub M}*(Q{sup 2}), as well as the helicity amplitudes, A{sub 1/2}(Q{sup 2}) and A{sub 3/2}(Q{sup 2}). The results at Q{sup 2}=0 are compared with the existing data.

  20. Interphase study by fluorescence in situ hybridization of spermatozoa of a paracentric inversion heterozygote

    SciTech Connect

    Brock, J.K.; Best, R.G.

    1994-09-01

    Cytogenetic studies of peripheral lymphocytes were initiated on a couple with a history of three spontaneous 1st trimester losses and oligospermia. The results revealed the woman to have a normal female karyotype. The man had a karyotype of 46,XY,inv(2)(q14.2q24.3). Interphase sperm studies were offered as an attempt to quantify the relative proportion of sperm with acentric and dicentric chromosome No. 2 in response to the couple`s concern that chromosomally unbalanced sperm resulting from recombination of the inversion was the primary cause of pregnancy losses. Slides were prepared and processed as previously described. A two-color probe cocktail consisting of a biotinylated {alpha}-satellite probe for No. 2 and a digoxigenin-labeled probe for {alpha}-satellite No. 17 as an internal control was employed. Among 496 cells with a single signal for chromosome No. 17, we observed 2 with no signal for chromsome No. 2, 492 with a single signal for No. 2, and 2 cells with 2 signals for No. 2. These findings indicate that the proportion of unbalanced recombinant sperm is probably under 1%, and that other factors are likely to be involved in the etiology of this couple`s pregnancy losses.

  1. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation.

    PubMed

    Adhikari, Kaustubh; Fuentes-Guajardo, Macarena; Quinto-Sánchez, Mirsha; Mendoza-Revilla, Javier; Camilo Chacón-Duque, Juan; Acuña-Alonzo, Victor; Jaramillo, Claudia; Arias, William; Lozano, Rodrigo Barquera; Pérez, Gastón Macín; Gómez-Valdés, Jorge; Villamil-Ramírez, Hugo; Hunemeier, Tábita; Ramallo, Virginia; Silva de Cerqueira, Caio C; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Gallo, Carla; Poletti, Giovanni; Schuler-Faccini, Lavinia; Salzano, Francisco M; Bortolini, Maria-Cátira; Canizales-Quinteros, Samuel; Cheeseman, Michael; Rosique, Javier; Bedoya, Gabriel; Rothhammer, Francisco; Headon, Denis; González-José, Rolando; Balding, David; Ruiz-Linares, Andrés

    2016-01-01

    We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10(-8)) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion. PMID:27193062

  2. Evidence for Cation-Controlled Excited-State Localization in a Ruthenium Polypyridyl Compound.

    PubMed

    Beauvilliers, Evan E; Meyer, Gerald J

    2016-08-01

    The visible absorption and photoluminescence (PL) properties of the four neutral ruthenium diimine compounds [Ru(bpy)2(dcb)] (B2B), [Ru(dtb)2(dcb)] (D2B), [Ru(bpy)2(dcbq)] (B2Q), and [Ru(dtb)2(dcbq)] (D2Q), where bpy is 2,2'-bipyridine, dcb is 4,4'-(CO2(-))2-bpy, dtb is 4,4'-(tert-butyl)2-bpy, and dcbq is 4,4'-(CO2(-))2-2,2'-biquinoline, are reported in the presence of Lewis acidic cations present in fluid solutions at room temperature. In methanol solutions, the measured spectra were insensitive to the presence of these cations, while in acetonitrile a significant red shift in the PL spectra (≤1400 cm(-1)) was observed consistent with stabilization of the metal-to-ligand charge transfer (MLCT) excited state through Lewis acid-base adduct formation. No significant spectral changes were observed in control experiments with the tetrabutylammonium cation. Titration data with Li(+), Na(+), Mg(2+), Ca(2+), Zn(2+), Al(3+), Y(3+), and La(3+) showed that the extent of stabilization saturated at high cation concentration with magnitudes that scaled roughly with the cation charge-to-size ratio. The visible absorption spectra of D2Q was particularly informative due to the presence of two well-resolved MLCT absorption bands: (1) Ru → bpy, λmax ≈ 450 nm; and (2) Ru → dcbq, λmax ≈ 540 nm. The higher-energy band blue-shifted and the lower-energy band red-shifted upon cation addition. The PL intensity and lifetime of the excited state of B2B first increased with cation addition without significant shifts in the measured spectra, behavior attributed to a cation-induced change in the localization of the emissive excited state from bpy to dcb. The importance of excited-state localization and stabilization for solar energy conversion is discussed. PMID:27391279

  3. STRONG TIDAL DISSIPATION IN SATURN AND CONSTRAINTS ON ENCELADUS' THERMAL STATE FROM ASTROMETRY

    SciTech Connect

    Lainey, Valery; Desmars, Josselin; Arlot, Jean-Eudes; Emelyanov, Nicolai; Remus, Francoise; Karatekin, Oezguer; Charnoz, Sebastien; Mathis, Stephane; Tobie, Gabriel; Zahn, Jean-Paul

    2012-06-10

    Tidal interactions between Saturn and its satellites play a crucial role in both the orbital migration of the satellites and the heating of their interiors. Therefore, constraining the tidal dissipation of Saturn (here the ratio k{sub 2}/Q) opens the door to the past evolution of the whole system. If Saturn's tidal ratio can be determined at different frequencies, it may also be possible to constrain the giant planet's interior structure, which is still uncertain. Here, we try to determine Saturn's tidal ratio through its current effect on the orbits of the main moons, using astrometric data spanning more than a century. We find an intense tidal dissipation (k{sub 2}/Q = (2.3 {+-} 0.7) Multiplication-Sign 10{sup -4}), which is about 10 times higher than the usual value estimated from theoretical arguments. As a consequence, eccentricity equilibrium for Enceladus can now account for the huge heat emitted from Enceladus' south pole. Moreover, the measured k{sub 2}/Q is found to be poorly sensitive to the tidal frequency, on the short frequency interval considered. This suggests that Saturn's dissipation may not be controlled by turbulent friction in the fluid envelope as commonly believed. If correct, the large tidal expansion of the moon orbits due to this strong Saturnian dissipation would be inconsistent with the moon formations 4.5 Byr ago above the synchronous orbit in the Saturnian subnebulae. But it would be compatible with a new model of satellite formation in which the Saturnian satellites formed possibly over a longer timescale at the outer edge of the main rings. In an attempt to take into account possible significant torques exerted by the rings on Mimas, we fitted a constant rate da/dt on Mimas' semi-major axis as well. We obtained an unexpected large acceleration related to a negative value of da/dt = -(15.7 {+-} 4.4) Multiplication-Sign 10{sup -15} AU day{sup -1}. Such acceleration is about an order of magnitude larger than the tidal deceleration rates

  4. AB016. Developing diagnostic strategy of multiple congenital anomalies in Indonesia

    PubMed Central

    Sjarif, Damayanti Rusli; Aswin, Yulia Ariani

    2015-01-01

    Background Pediatricians quite often must deal with multiple congenital anomalies (MCA). Without a correct diagnosis, many available forms of therapy will be under-or-overused and counseling about prognosis and recurrence risk maybe unrealistic. The basis for diagnosis of MCA involves a combination of defining the physical manifestations and diagnostic genetic testing. Chromosome analysis is a standard practice to unravel the etiology of MCA. Conventional cytogenetic method has limitation in detecting abe1rrations less than 5 Mb in size. Microarray technology could overcome this obstacle. The aim of this study is to develop diagnosis strategy of MCA cases. Methods Seventy two MCA cases were recruited from July 2013 until June 2014. Fifty one subjects were diagnosed phenotypically using OMIM and POSSUM databases. Subsequently, chromosome analysis were performed as a first step of diagnosis strategy. Nine cases among those subjects found to have chromosome aberrations, whereas twelve cases showed normal karyotypes. Eight subjects from the normal karyotype group have a good quality of DNA and proceed to microarray examination. Microarray examination were done at Department of Medical Genetics, UMC Utrecht, Netherlands, using Infinium CytoSNP-850K DNA analysis bead chip kit from Illumina. Chips were scanned using Hi-scan scanner from Illumina. Data were extracted using genome studio software. Data were analyzed using Nexus software. Results Nine out of twenty cases were found to have chromosome aberrations. Those aberrations are:46,XY,add(13)(q34); 46,XY,6 Mar, 17 dmin; 46,XX,r(4)(p16q35); 46,XY,22ps+; 46,XY,add(5)(p15); 47,XX+G; 46,XX/45XX Rob (13,15/q10.2,q10), 45XX Rob (13,14)(q10,q10); 46,XX, ring 13; 45,XY,der(2)del(2)(q37.3)t(2;15)(q37.2;q11.2). Five out of eight subjects which tested by microarray showed normal array. Two subjects showed well known deletion syndrome, which are Wolf-Hirschhorn syndrome and Williams-Beuren syndrome. One case has normal array with

  5. Metastatic progression of breast cancer: insights from 50 years of autopsies.

    PubMed

    Cummings, Margaret C; Simpson, Peter T; Reid, Lynne E; Jayanthan, Janani; Skerman, Joanna; Song, Sarah; McCart Reed, Amy E; Kutasovic, Jamie R; Morey, Adrienne L; Marquart, Louise; O'Rourke, Peter; Lakhani, Sunil R

    2014-01-01

    There remain no clear guidelines for the optimal management of patients with metastatic breast cancer. To better understand its natural history, we undertook a detailed examination of 197 autopsies performed on women who died of breast cancer. We reviewed clinical, treatment and pathological aspects of all cases and, additionally, pathological features and biomarker expression (ER, PgR, HER2, EGFR, p53, Ki67, c-Kit, CK AE1/AE3) were assessed in detail for the primary tumour and matched metastases for 55 of the cases. Genomes of the primary tumour and multiple metastases were analysed by array-based comparative genomic hybridization for six cases(##) . 945 metastatic deposits were identified, with a median of four/patient. The most common organs involved were lung/pleura (80%), bone (74%), liver (71%) and non-axillary lymph nodes (55%). Major findings included: (a) patients with CNS metastases were more likely to have bone metastases (p < 0.013); (b) younger age was associated with metastasis to the liver (≤ 49 years; p < 0.001) and to gynaecological organs (≤ 49 years; p = 0.001); (c) surgical excision of the primary tumour was associated with metastasis to the liver (p = 0.002); and (d) ER and PgR showed down-regulation during progression in a non-random manner, particularly in lung/pleura (ER; p < 0.001), liver and bone metastases. Genomic analysis revealed DNA copy number variation between the primary tumour and metastases (e.g. amplification of 2q11.2-q12.1 and 10q22.2-q22.3) but little variation between metastases from the same patient. In summary, the association of CNS and bone metastases, liver and gynaecological metastases in young women and the risk of liver metastases following surgery have important implications for the management of patients with breast cancer. Clonal heterogeneity of the primary tumour is important in developing metastatic propensity and the change in tumour phenotype during progression/colonization highlights the importance

  6. Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.

    PubMed

    Purrington, Kristen S; Slager, Susan; Eccles, Diana; Yannoukakos, Drakoulis; Fasching, Peter A; Miron, Penelope; Carpenter, Jane; Chang-Claude, Jenny; Martin, Nicholas G; Montgomery, Grant W; Kristensen, Vessela; Anton-Culver, Hoda; Goodfellow, Paul; Tapper, William J; Rafiq, Sajjad; Gerty, Susan M; Durcan, Lorraine; Konstantopoulou, Irene; Fostira, Florentia; Vratimos, Athanassios; Apostolou, Paraskevi; Konstanta, Irene; Kotoula, Vassiliki; Lakis, Sotiris; Dimopoulos, Meletios A; Skarlos, Dimosthenis; Pectasides, Dimitrios; Fountzilas, George; Beckmann, Matthias W; Hein, Alexander; Ruebner, Matthias; Ekici, Arif B; Hartmann, Arndt; Schulz-Wendtland, Ruediger; Renner, Stefan P; Janni, Wolfgang; Rack, Brigitte; Scholz, Christoph; Neugebauer, Julia; Andergassen, Ulrich; Lux, Michael P; Haeberle, Lothar; Clarke, Christine; Pathmanathan, Nirmala; Rudolph, Anja; Flesch-Janys, Dieter; Nickels, Stefan; Olson, Janet E; Ingle, James N; Olswold, Curtis; Slettedahl, Seth; Eckel-Passow, Jeanette E; Anderson, S Keith; Visscher, Daniel W; Cafourek, Victoria L; Sicotte, Hugues; Prodduturi, Naresh; Weiderpass, Elisabete; Bernstein, Leslie; Ziogas, Argyrios; Ivanovich, Jennifer; Giles, Graham G; Baglietto, Laura; Southey, Melissa; Kosma, Veli-Matti; Fischer, Hans-Peter; Reed, Malcom W R; Cross, Simon S; Deming-Halverson, Sandra; Shrubsole, Martha; Cai, Qiuyin; Shu, Xiao-Ou; Daly, Mary; Weaver, Joellen; Ross, Eric; Klemp, Jennifer; Sharma, Priyanka; Torres, Diana; Rüdiger, Thomas; Wölfing, Heidrun; Ulmer, Hans-Ulrich; Försti, Asta; Khoury, Thaer; Kumar, Shicha; Pilarski, Robert; Shapiro, Charles L; Greco, Dario; Heikkilä, Päivi; Aittomäki, Kristiina; Blomqvist, Carl; Irwanto, Astrid; Liu, Jianjun; Pankratz, Vernon Shane; Wang, Xianshu; Severi, Gianluca; Mannermaa, Arto; Easton, Douglas; Hall, Per; Brauch, Hiltrud; Cox, Angela; Zheng, Wei; Godwin, Andrew K; Hamann, Ute; Ambrosone, Christine; Toland, Amanda Ewart; Nevanlinna, Heli; Vachon, Celine M; Couch, Fergus J

    2014-05-01

    Triple-negative (TN) breast cancer is an aggressive subtype of breast cancer associated with a unique set of epidemiologic and genetic risk factors. We conducted a two-stage genome-wide association study of TN breast cancer (stage 1: 1529 TN cases, 3399 controls; stage 2: 2148 cases, 1309 controls) to identify loci that influence TN breast cancer risk. Variants in the 19p13.1 and PTHLH loci showed genome-wide significant associations (P < 5 × 10(-) (8)) in stage 1 and 2 combined. Results also suggested a substantial enrichment of significantly associated variants among the single nucleotide polymorphisms (SNPs) analyzed in stage 2. Variants from 25 of 74 known breast cancer susceptibility loci were also associated with risk of TN breast cancer (P < 0.05). Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). Further, two SNPs independent of previously reported signals in ESR1 [rs12525163 odds ratio (OR) = 1.15, P = 4.9 × 10(-) (4)] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 × 10(-) (9)) were associated with TN breast cancer. A polygenic risk score (PRS) for TN breast cancer based on known breast cancer risk variants showed a 4-fold difference in risk between the highest and lowest PRS quintiles (OR = 4.03, 95% confidence interval 3.46-4.70, P = 4.8 × 10(-) (69)). This translates to an absolute risk for TN breast cancer ranging from 0.8% to 3.4%, suggesting that genetic variation may be used for TN breast cancer risk prediction. PMID:24325915

  7. Combined coupled-cluster and many-body perturbation theories

    NASA Astrophysics Data System (ADS)

    Hirata, So; Fan, Peng-Dong; Auer, Alexander A.; Nooijen, Marcel; Piecuch, Piotr

    2004-12-01

    Various approximations combining coupled-cluster (CC) and many-body perturbation theories have been derived and implemented into the parallel execution programs that take into account the spin, spatial (real Abelian), and permutation symmetries and that are applicable to closed- and open-shell molecules. The implemented models range from the CCSD(T), CCSD[T], CCSD(2)T, CCSD(2)TQ, and CCSDT(2)Q methods to the completely renormalized (CR) CCSD(T) and CCSD[T] approaches, where CCSD (CCSDT) stands for the CC method with connected single and double (single, double, and triple) cluster operators, and subscripted or parenthesized 2, T, and Q indicate the perturbation order or the excitation ranks of the cluster operators included in the corrections. The derivation and computer implementation have been automated by the algebraic and symbolic manipulation program TENSOR CONTRACTION ENGINE (TCE). The TCE-synthesized subroutines generate the tensors with the highest excitation rank in a blockwise manner so that they need not be stored in their entirety, while enabling the efficient reuse of other precalculated intermediate tensors defined by prioritizing the memory optimization as well as operation minimization. Consequently, the overall storage requirements for the corrections due to connected triple and quadruple cluster operators scale as O(n4) and O(n6), respectively (n being a measure of the system size). For systems with modest multireference character of their wave functions, we found that the order of accuracy is CCSD2)Q, whereas CR-CCSD(T) is more effective in cases of larger quasidegeneracy. The operation costs of the TCE-generated CCSD(2)TQ and CCSDT(2)Q codes scale as rather steep O(n9), while the TCE-generated CCSD(T), CCSD(2)T, and CR-CCSD(T) codes are near operation minimum [a noniterative O(n7)]. The perturbative correction part of the CCSD(T)/cc-pVDZ calculations for azulene exhibited a 45-fold speedup

  8. Tides on Self-gravitating, Compressible Bodies

    NASA Astrophysics Data System (ADS)

    Hurford, T. A.; Greenberg, R.

    2001-11-01

    Most modern derivations of tidal amplitude follow the approach presented by Love [1]. Love's analysis for a homogeneous sphere assumed an incompressible material, which required introduction of a non-rigorously justified pressure term. We have solved the more general case of arbitrary compressibility, which allows for a more straightforward derivation [2,3]. We find the h2 love number of a body of radius R, density ρ , by solving the deformation equation [4], μ ∇ 2 u = ρ ∇U - (λ + μ ) ∇ (∇ ṡ u) where μ is the rigidity of the body and λ the Lamé constant. The potential U is the sum of (a) the tide raising potential, (b) the potential of surface mass shifted above or below the spherical surface, (c) potential due to the internal density changes and (d) the change in potential of each bit of volume due to its displacement u. A self-consistent solution can be obtained with U = \\sum_{q=0}^{\\infty} b_{(2+2q)} r^{(2+2q)} ( {3}/{2} \\cos2 \\theta - {1}/{2} ). In [1] and [3] only the r2 term was considered, which was valid only if compressibility is small or elasticity governs deformation (i.e. ρ g R << (λ + 2 μ )). The solution with only the r2 term reduces to Love's [1] solution in the limit of zero compressibility (λ = ∞ ). However, for rock μ ~ λ [4], in which case h2 is enhanced by ~ 3 %, and solutions for greater compressibility give up to 8 % enhancement of tidal amplitude. If ρ g R is significant, higher order r(2q+2) terms are important and even greater corrections are required to the classical tidal amplitude. [1] Love, A.E.H., New York Dover Publications, 1944 [2] Hurford, T.A. and R. Greenberg, Lunar Plan. Sci. XXXII 1741, 2001 [3] Hurford, T.A. and R. Greenberg, 2001 DDA meeting, Bull. Amer. Astron. Soc. in press [4] Kaula, W.M., John Wiley & Sons, Inc., 1968

  9. Measurement of parity-violating asymmetry in deep inelastic scattering at Jefferson Lab

    NASA Astrophysics Data System (ADS)

    Zheng, Xiaochao

    2015-04-01

    Symmetry permeates nature and is fundamental to all laws of physics. One example is mirror symmetry, also called ``parity symmetry''. It implies that flipping left and right does not change the laws of physics. Laws for electromagnetism, gravity and the subatomic strong force respect parity symmetry, but the subatomic weak force does not. Historically, parity violation in electron scattering played a key role in establishing, and now testing, the Standard Model of particle physics. One particular set of the quantities accessible through measurements of parity-violating electron scattering are the vector-electron axial-vector-quark weak couplings, called C2 q's, measured directly only once in the past 40 years. We report here on a new measurement of the parity-violating asymmetry in electron-quark scattering, that has yielded a specific combination 2C2 u -C2 d five times more precise than the earlier result. (Here u and d stand respectively for the up and the down quarks.) These results are the first evidence, at more than the 95% confidence level, that the C2 q's are non-zero as predicted by the electroweak theory. They lead to constraints on new interactions beyond the Standard Model, particularly on those whose laws change when the quark chirality is flipped between left and right. In today's particle physics research that is focused on colliders such as the LHC, our results provide specific chirality information on electroweak theory that is difficult to obtain at high energies. In addition to deep inelastic scattering, we will report on measurement of the asymmetry in the nucleon resonance region. These data exhibit for the first time that the quark-hadron duality may work for electroweak observables at the (10--15)% level throughout the whole resonance region. At the end I will give a brief outlook on the future PVDIS program using the Jefferson Lab 12 GeV beam, which will not only provide more precise measurement of C2 q, but also for sin2 θW and for

  10. Trends in U.S. Venture Capital Investments Related to Energy: 1980 through the Third Quarter of 2010

    SciTech Connect

    Dooley, James J.

    2010-11-08

    This report documents trends in U.S. venture capital investments over the period 1980 through the third quarter of calendar year 2010 (2010 Q1+Q2+Q3). Particular attention is given to U.S. venture capital investments in the energy/industrial sector over the period 1980-2010 Q1+Q2+Q3 as well as in the more recently created cross-cutting category of CleanTech over the period 1995-2010 Q1+Q2+Q3. During the early 1980s, U.S. venture capital investments in the energy/industrial sector accounted for more than 20% of all venture capital investments. However subsequent periods of low energy prices, the deregulation of large aspects of the energy industry, and the emergence of fast growing new industries like computers (both hardware and software), biotechnology and the Internet quickly reduced the priority accorded to energy/industrial investments. To wit, venture capital investments related to the energy/industrial sector accounted for only 1% of the $132 billion (in real 2010 US$) invested in 2000 by the U.S. venture capital community. The significant increase in the real price of oil that began in 2003-2004 correlates with renewed interest and increased investment by the venture capital community in energy/industrial investment opportunities. Venture capital investments for 2009 for the energy/industrial sector accounted for $2.4 billion or slightly more than 13% of all venture capital invested that year. The total venture capital invested in energy/industrial during the first three quarters of 2010 is close to $2.4 billion accounting for slightly less than 15% of all venture capital investments during the first three quarters of 2010. In 2009, the aggregate amount invested in CleanTech was $2.1 billion (11% of the total US venture capital invested in that lean year) and for the first three quarters of 2010 US venture capital investments in CleanTech have already exceeded $2.8 billion (18% of all US venture capital investments made during the first three quarters of

  11. Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

    PubMed Central

    Couch, Fergus J.

    2014-01-01

    Triple-negative (TN) breast cancer is an aggressive subtype of breast cancer associated with a unique set of epidemiologic and genetic risk factors. We conducted a two-stage genome-wide association study of TN breast cancer (stage 1: 1529 TN cases, 3399 controls; stage 2: 2148 cases, 1309 controls) to identify loci that influence TN breast cancer risk. Variants in the 19p13.1 and PTHLH loci showed genome-wide significant associations (P < 5 × 10− 8) in stage 1 and 2 combined. Results also suggested a substantial enrichment of significantly associated variants among the single nucleotide polymorphisms (SNPs) analyzed in stage 2. Variants from 25 of 74 known breast cancer susceptibility loci were also associated with risk of TN breast cancer (P < 0.05). Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). Further, two SNPs independent of previously reported signals in ESR1 [rs12525163 odds ratio (OR) = 1.15, P = 4.9 × 10− 4] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 × 10− 9) were associated with TN breast cancer. A polygenic risk score (PRS) for TN breast cancer based on known breast cancer risk variants showed a 4-fold difference in risk between the highest and lowest PRS quintiles (OR = 4.03, 95% confidence interval 3.46–4.70, P = 4.8 × 10− 69). This translates to an absolute risk for TN breast cancer ranging from 0.8% to 3.4%, suggesting that genetic variation may be used for TN breast cancer risk prediction. PMID:24325915

  12. Mapping of the first preferentially expressed cDNA in human fetal cochlea to human 14q11.2-12 and to a region of homologous synteny on mouse chromosome 12

    SciTech Connect

    Robertson, N.G.; Weremowicz, S.; Kovatch, K.A.

    1994-09-01

    We have isolated a cDNA, Coch-5B2 (D14S564E) from a human fetal cochlear cDNA library by subtractive hybridization and differential screening methods. This is the first cDNA to date shown to be expressed preferentially in human fetal cochlea (membranous labyrinth). On Northern blot of a panel of 14 human fetal tissue RNAs including cochlea, brain, liver, spleen, skeletal muscle, kidney, lung, skin, thymus, adrenal, small intestine, eye, sternal cartilage, and cultured fibroblasts, very high level expression of D14S564E is seen only in cochlea; very faint bands are discernible in brain and eye. Sequence comparison of this clone to sequences in GenBank/EMBL data bases shows no match to any known genes, indicating that it represents a novel cochlear sequence. Chromosome localization of this cochlear cDNA may provide insight into a region of the human genome to which human deafness disorders may map. We have assigned D14S564E to human chromosome 14 using the NIGMS human/rodent somatic cell hybrid mapping panel 1, and regionally to q11.2-q12 by fluorescence in situ hybridization (FISH). Besides detection of the human genomic band on the hybrid panel, genomic bands were seen for mouse and hamster, demonstrating evolutionary conservation of D14S564E. By FISH, signal was detected on human 14q11.2-q12 in 20 metaphases. In 3 metaphases, signal was present on both chromosome 14s. The mouse homolog of this cochlear cDNA was also used to probe human metaphases by FISH: signal was detected in the same region, 14q11.2-12, as the human clone in 5 metaphases, confirming human mapping data and homology to the human cDNA. The human cochlear D14S564E was genetically mapped in the mouse to chromosome 12, in a region of homology with human 14q11.2-q12. This region on mouse 12 contains the asp-1 (audiogenic seizure prone) locus and future studies will be directed at determining whether D14S564E is a candidate gene for this disorder.

  13. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.

    PubMed

    Antoniou, Antonis C; Beesley, Jonathan; McGuffog, Lesley; Sinilnikova, Olga M; Healey, Sue; Neuhausen, Susan L; Ding, Yuan Chun; Rebbeck, Timothy R; Weitzel, Jeffrey N; Lynch, Henry T; Isaacs, Claudine; Ganz, Patricia A; Tomlinson, Gail; Olopade, Olufunmilayo I; Couch, Fergus J; Wang, Xianshu; Lindor, Noralane M; Pankratz, Vernon S; Radice, Paolo; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Barile, Monica; Viel, Alessandra; Allavena, Anna; Dall'Olio, Valentina; Peterlongo, Paolo; Szabo, Csilla I; Zikan, Michal; Claes, Kathleen; Poppe, Bruce; Foretova, Lenka; Mai, Phuong L; Greene, Mark H; Rennert, Gad; Lejbkowicz, Flavio; Glendon, Gord; Ozcelik, Hilmi; Andrulis, Irene L; Thomassen, Mads; Gerdes, Anne-Marie; Sunde, Lone; Cruger, Dorthe; Birk Jensen, Uffe; Caligo, Maria; Friedman, Eitan; Kaufman, Bella; Laitman, Yael; Milgrom, Roni; Dubrovsky, Maya; Cohen, Shimrit; Borg, Ake; Jernström, Helena; Lindblom, Annika; Rantala, Johanna; Stenmark-Askmalm, Marie; Melin, Beatrice; Nathanson, Kate; Domchek, Susan; Jakubowska, Ania; Lubinski, Jan; Huzarski, Tomasz; Osorio, Ana; Lasa, Adriana; Durán, Mercedes; Tejada, Maria-Isabel; Godino, Javier; Benitez, Javier; Hamann, Ute; Kriege, Mieke; Hoogerbrugge, Nicoline; van der Luijt, Rob B; van Asperen, Christi J; Devilee, Peter; Meijers-Heijboer, E J; Blok, Marinus J; Aalfs, Cora M; Hogervorst, Frans; Rookus, Matti; Cook, Margaret; Oliver, Clare; Frost, Debra; Conroy, Don; Evans, D Gareth; Lalloo, Fiona; Pichert, Gabriella; Davidson, Rosemarie; Cole, Trevor; Cook, Jackie; Paterson, Joan; Hodgson, Shirley; Morrison, Patrick J; Porteous, Mary E; Walker, Lisa; Kennedy, M John; Dorkins, Huw; Peock, Susan; Godwin, Andrew K; Stoppa-Lyonnet, Dominique; de Pauw, Antoine; Mazoyer, Sylvie; Bonadona, Valérie; Lasset, Christine; Dreyfus, Hélène; Leroux, Dominique; Hardouin, Agnès; Berthet, Pascaline; Faivre, Laurence; Loustalot, Catherine; Noguchi, Tetsuro; Sobol, Hagay; Rouleau, Etienne; Nogues, Catherine; Frénay, Marc; Vénat-Bouvet, Laurence; Hopper, John L; Daly, Mary B; Terry, Mary B; John, Esther M; Buys, Saundra S; Yassin, Yosuf; Miron, Alexander; Goldgar, David; Singer, Christian F; Dressler, Anne Catharina; Gschwantler-Kaulich, Daphne; Pfeiler, Georg; Hansen, Thomas V O; Jønson, Lars; Agnarsson, Bjarni A; Kirchhoff, Tomas; Offit, Kenneth; Devlin, Vincent; Dutra-Clarke, Ana; Piedmonte, Marion; Rodriguez, Gustavo C; Wakeley, Katie; Boggess, John F; Basil, Jack; Schwartz, Peter E; Blank, Stephanie V; Toland, Amanda Ewart; Montagna, Marco; Casella, Cinzia; Imyanitov, Evgeny; Tihomirova, Laima; Blanco, Ignacio; Lazaro, Conxi; Ramus, Susan J; Sucheston, Lara; Karlan, Beth Y; Gross, Jenny; Schmutzler, Rita; Wappenschmidt, Barbara; Engel, Christoph; Meindl, Alfons; Lochmann, Magdalena; Arnold, Norbert; Heidemann, Simone; Varon-Mateeva, Raymonda; Niederacher, Dieter; Sutter, Christian; Deissler, Helmut; Gadzicki, Dorothea; Preisler-Adams, Sabine; Kast, Karin; Schönbuchner, Ines; Caldes, Trinidad; de la Hoya, Miguel; Aittomäki, Kristiina; Nevanlinna, Heli; Simard, Jacques; Spurdle, Amanda B; Holland, Helene; Chen, Xiaoqing; Platte, Radka; Chenevix-Trench, Georgia; Easton, Douglas F

    2010-12-01

    The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10(-11) - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers. PMID:21118973

  14. Identification of chromosomal aberrations associated with disease progression and a novel 3q13.31 deletion involving LSAMP gene in osteosarcoma.

    PubMed

    Yen, Chueh-Chuan; Chen, Wei-Ming; Chen, Tain-Hsiung; Chen, Winby York-Kwan; Chen, Paul Chih-Hsueh; Chiou, Hong-Jen; Hung, Giun-Yi; Wu, Hung-Ta Hondar; Wei, Chao-Jung; Shiau, Cheng-Ying; Wu, Yu-Chung; Chao, Ta-Chung; Tzeng, Cheng-Hwai; Chen, Po-Min; Lin, Chi-Hung; Chen, Yann-Jang; Fletcher, Jonathan A

    2009-10-01

    Five osteosarcoma (OS) cell lines, 37 OS tumors and 9 corresponding non-neoplastic samples were genotyped by Affymetrix 10 K 2.0 SNP array. Regions of high level amplification and homozygous deletion were identified and validated by quantitative PCR and FISH. Certain recurrent cytogenetic alterations were more frequent in recurrent/metastatic than in primary OS. These included deletion of 6q14.1, 6q16.2-q22.31, and 8p23.2-p12, amplification of 8q21.12, 8q22.3-q24.3 and 17p12, and loss of heterozygosity (LOH) at 2q24.3-q31.2, 5q11.2, 6p21.31-p21.1, 6q14.1-q16.2, 8p22-p12, 9q22.1, 10q21.1-q22.1, 10q23.31-q24.1, 12q15-q21.1 and 21q21.2-q21.3. Most of the LOH calls were associated with deletion, but a subset of them was associated with normal or increased copy number (CN). A consensus 3q13.31 deletion localized to a region within the limbic system-associated membrane protein (LSAMP) gene was also identified. The FISH evaluations demonstrated highly-localized homozygous or heterozygous LSAMP deletions in 6 of 11 primary OS. qRT-PCR evaluations of the two major alternative LSAMP transcripts demonstrated reduced expression of 1b isoform transcript in each of three OS with LSAMP exon 1b deletion. Further, the 1a isoform transcripts in these same OS had either reduced expression or a premature termination codon in LSAMP exon 2. This SNP genotyping study identified chromosomal aberrations associated with disease progression in OS and disclosed LSAMP as a novel tumor suppressor gene in OS. The study also demonstrated that CN and LOH analyses were able to detect distinct subsets of genetic abnormalities in OS. PMID:19724913

  15. Ataxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse model.

    PubMed

    Dansithong, Warunee; Paul, Sharan; Figueroa, Karla P; Rinehart, Marc D; Wiest, Shaina; Pflieger, Lance T; Scoles, Daniel R; Pulst, Stefan M

    2015-04-01

    Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder with progressive degeneration of cerebellar Purkinje cells (PCs) and other neurons caused by expansion of a glutamine (Q) tract in the ATXN2 protein. We generated BAC transgenic lines in which the full-length human ATXN2 gene was transcribed using its endogenous regulatory machinery. Mice with the ATXN2 BAC transgene with an expanded CAG repeat (BAC-Q72) developed a progressive cellular and motor phenotype, whereas BAC mice expressing wild-type human ATXN2 (BAC-Q22) were indistinguishable from control mice. Expression analysis of laser-capture microdissected (LCM) fractions and regional expression confirmed that the BAC transgene was expressed in PCs and in other neuronal groups such as granule cells (GCs) and neurons in deep cerebellar nuclei as well as in spinal cord. Transcriptome analysis by deep RNA-sequencing revealed that BAC-Q72 mice had progressive changes in steady-state levels of specific mRNAs including Rgs8, one of the earliest down-regulated transcripts in the Pcp2-ATXN2[Q127] mouse line. Consistent with LCM analysis, transcriptome changes analyzed by deep RNA-sequencing were not restricted to PCs, but were also seen in transcripts enriched in GCs such as Neurod1. BAC-Q72, but not BAC-Q22 mice had reduced Rgs8 mRNA levels and even more severely reduced steady-state protein levels. Using RNA immunoprecipitation we showed that ATXN2 interacted selectively with RGS8 mRNA. This interaction was impaired when ATXN2 harbored an expanded polyglutamine. Mutant ATXN2 also reduced RGS8 expression in an in vitro coupled translation assay when compared with equal expression of wild-type ATXN2-Q22. Reduced abundance of Rgs8 in Pcp2-ATXN2[Q127] and BAC-Q72 mice supports our observations of a hyper-excitable mGluR1-ITPR1 signaling axis in SCA2, as RGS proteins are linked to attenuating mGluR1 signaling. PMID:25902068

  16. Genome-wide single nucleotide polymorphism array analysis reveals recurrent genomic alterations associated with histopathologic features in intrahepatic cholangiocarcinoma

    PubMed Central

    Huang, Wan-Ting; Weng, Shao-Wen; Wei, Yu-Ching; You, Huey-Ling; Wang, Jui-Tzu; Eng, Hock-Liew

    2014-01-01

    Recent studies indicate that genomic alterations (GAs) are associated with many human malignancies. Genome-wide analysis of GAs involved in intrahepatic cholangiocarcinoma (ICC) and association with histopathologic features are limited. To help characterize this relatively rare neoplasm, we collected 32 frozen tissue samples of ICC to study GAs and molecular karyotypes by using single-nucleotide polymorphism array. Recurrent GAs occurring in at least 40% of the patients were further correlated with histopathologic features. Gain of 1q21.3-q23.1 and losses of 1p36.33-p35.3 and 3p26.3-p13 were significantly associated with larger tumor size more than 5 cm in diameter; and loss of 4q13.2-q35.2 with tumor multiplicity. Moreover, losses of 1p36.32-p35.3, 3p26.3-p22.2, 4q13.1-q21.23, 4q31.3-q34.3 and 4q34.3-35.2 were inclined to be associated with high histological grade. As to tumor vascular invasion, gain of 1q21.3-q23.1 and losses of 3p22.1-p12.3 and 4q13.2-q35.2 were significantly associated with tumor vascular invasion. Some regions were concurrently associated with multiple histopathologic characteristics, including loss of 4q13.2-q35.2 associated with larger tumor size, high histological grade and vascular invasion; losses of 1p36.33-p35.3 and 3p26.3-p22.2 with larger tumor size and high histological grade; and gain of 1q21.3-q23.1 with larger tumor size and vascular invasion. Our study indicates that complex chromosomal instability is characteristic of ICC. Detecting crucial GAs will enable risk stratification and development of personalized therapies. PMID:25400767

  17. Structural behavior of Al 3+ in silicate melts: In situ, high-temperature measurements as a function of bulk chemical composition

    NASA Astrophysics Data System (ADS)

    Mysen, Bjorn

    1995-02-01

    The anionic structure of aluminosilicate melts has been determined along the join Li 2Si 2O 5Li 2(LiAl) 2O 5 (LS2-LA2) with microRaman spectroscopy in the temperature range 25°-1460°C. Those data are compared with the structural behavior of melts along the join Na 2Si 2O 5Na 2(NaAl) 2O 5 (NS2-NA2) in the same temperature interval. In these systems, Li' and Na + serve both to charge-balance Al 3+ in tetrahedral coordination and as network-modifiers. The NBO/ T ( T = Si + Al) equals unity in the Al/(Al + Si) range examined (0-0.3). In the Al-free endmember glass and melt systems, the three species, Q4, Q3, and Q2 coexist and the expression, (1) 2 Q3 ⇔ Q2 + Q4, describes the equilibrium. Substitution of Na- or Li-charge-balanced Al 3+ for Si 4+ results in stabilization of an additional, more depolymerized structural unit, Q1. An additional equilibrium, (2) 2 Q2 ⇔ Q1 + Q3, is needed, therefore, for a complete description of the equilibria. In the LS2-LA2 system, the ΔH for this latter reaction ( ΔH2) ranges between ˜0 and -87 kJ/mol and is negatively correlated with Al/(Al + Si). In the NS2-NA2 system, the ΔH2 is positive with values between 16 and 37 kJ/mol and is positively correlated with Al/(Al + Si). Equilibrium (1) is affected by equilibrium (2) in the Al-bearing melts, so that in the NS2-NA2 melt system, equilibrium (1) shifts to the left with temperature ( ΔH1 = -10--15 kJ/mol), whereas in the LS2-LA2 system, equilibrium (1) shifts more strongly to the right with temperature than in the absence of Al ( ΔH1 is positively correlated with Al/(Al + Si) with values in the range 6-48 kJ/mol). Activity coefficients for Q2 units in the melts calculated from liquidus phase relations in combination with the determined mol fractions of structural units in the melts show simple relations between activity coefficient of the unit and its molar abundance in the melts.

  18. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

    PubMed Central

    Antoniou, Antonis C; Beesley, Jonathan; McGuffog, Lesley; Sinilnikova, Olga M.; Healey, Sue; Neuhausen, Susan L.; Ding, Yuan Chun; Rebbeck, Timothy R.; Weitzel, Jeffrey N.; Lynch, Henry T.; Isaacs, Claudine; Ganz, Patricia A.; Tomlinson, Gail; Olopade, Olufunmilayo I.; Couch, Fergus J.; Wang, Xianshu; Lindor, Noralane M.; Pankratz, Vernon S.; Radice, Paolo; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Barile, Monica; Viel, Alessandra; Allavena, Anna; Dall’Olio, Valentina; Peterlongo, Paolo; Szabo, Csilla I.; Zikan, Michal; Claes, Kathleen; Poppe, Bruce; Foretova, Lenka; Mai, Phuong L.; Greene, Mark H.; Rennert, Gad; Lejbkowicz, Flavio; Glendon, Gord; Ozcelik, Hilmi; Andrulis, Irene L.; Thomassen, Mads; Gerdes, Anne-Marie; Sunde, Lone; Cruger, Dorthe; Jensen, Uffe Birk; Caligo, Maria; Friedman, Eitan; Kaufman, Bella; Laitman, Yael; Milgrom, Roni; Dubrovsky, Maya; Cohen, Shimrit; Borg, Ake; Jernström, Helena; Lindblom, Annika; Rantala, Johanna; Stenmark-Askmalm, Marie; Melin, Beatrice; Nathanson, Kate; Domchek, Susan; Jakubowska, Ania; Lubinski, Jan; Huzarski, Tomasz; Osorio, Ana; Lasa, Adriana; Durán, Mercedes; Tejada, Maria-Isabel; Godino, Javier; Benitez, Javier; Hamann, Ute; Kriege, Mieke; Hoogerbrugge, Nicoline; van der Luijt, Rob B; van Asperen, Christi J; Devilee, Peter; Meijers-Heijboer, E.J.; Blok, Marinus J; Aalfs, Cora M.; Hogervorst, Frans; Rookus, Matti; Cook, Margaret; Oliver, Clare; Frost, Debra; Conroy, Don; Evans, D. Gareth; Lalloo, Fiona; Pichert, Gabriella; Davidson, Rosemarie; Cole, Trevor; Cook, Jackie; Paterson, Joan; Hodgson, Shirley; Morrison, Patrick J.; Porteous, Mary E.; Walker, Lisa; Kennedy, M. John; Dorkins, Huw; Peock, Susan; Godwin, Andrew K.; Stoppa-Lyonnet, Dominique; de Pauw, Antoine; Mazoyer, Sylvie; Bonadona, Valérie; Lasset, Christine; Dreyfus, Hélène; Leroux, Dominique; Hardouin, Agnès; Berthet, Pascaline; Faivre, Laurence; Loustalot, Catherine; Noguchi, Tetsuro; Sobol, Hagay; Rouleau, Etienne; Nogues, Catherine; Frénay, Marc; Vénat-Bouvet, Laurence; Hopper, John L.; Daly, Mary B.; Terry, Mary B.; John, Esther M.; Buys, Saundra S.; Yassin, Yosuf; Miron, Alex; Goldgar, David; Singer, Christian F.; Dressler, Anne Catharina; Gschwantler-Kaulich, Daphne; Pfeiler, Georg; Hansen, Thomas V. O.; Jønson, Lars; Agnarsson, Bjarni A.; Kirchhoff, Tomas; Offit, Kenneth; Devlin, Vincent; Dutra-Clarke, Ana; Piedmonte, Marion; Rodriguez, Gustavo C.; Wakeley, Katie; Boggess, John F.; Basil, Jack; Schwartz, Peter E.; Blank, Stephanie V.; Toland, Amanda Ewart; Montagna, Marco; Casella, Cinzia; Imyanitov, Evgeny; Tihomirova, Laima; Blanco, Ignacio; Lazaro, Conxi; Ramus, Susan J.; Sucheston, Lara; Karlan, Beth Y.; Gross, Jenny; Schmutzler, Rita; Wappenschmidt, Barbara; Engel, Christoph; Meindl, Alfons; Lochmann, Magdalena; Arnold, Norbert; Heidemann, Simone; Varon-Mateeva, Raymonda; Niederacher, Dieter; Sutter, Christian; Deissler, Helmut; Gadzicki, Dorothea; Preisler-Adams, Sabine; Kast, Karin; Schönbuchner, Ines; Caldes, Trinidad; de la Hoya, Miguel; Aittomäki, Kristiina; Nevanlinna, Heli; Simard, Jacques; Spurdle, Amanda B.; Holland, Helene; Chen, Xiaoqing; Platte, Radka; Chenevix-Trench, Georgia; Easton, Douglas F.

    2010-01-01

    The known breast cancer (BC) susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1,LSP1 and 2q35 confer increased risks of BC for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of three additional SNPs, rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11 and rs10941679 at 5p12 and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased BC risk for BRCA2 carriers (per-allele Hazard Ratio (HR)=1.10, 95%CI:1.03-1.18, p=0.006 and HR=1.09, 95%CI:1.01-1.19, p=0.03, respectively). Neither SNP was associated with BC risk for BRCA1 carriers and rs6504950 was not associated with BC for either BRCA1 or BRCA2 carriers. Of the nine polymorphisms investigated, seven were associated with BC for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, p-values:7×10−11-0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (p=0.0049, 0.03 respectively). All risk associated polymorphisms appear to interact multiplicatively on BC risk for mutation carriers. Based on the joint genotype distribution of the seven risk associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e. between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing BC by age 80, compared with 42-50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences may be sufficient to influence the clinical management of mutation carriers. PMID:21118973

  19. Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

    PubMed Central

    Deml, Brett; Kariminejad, Ariana; Borujerdi, Razieh H. R.; Muheisen, Sanaa; Reis, Linda M.; Semina, Elena V.

    2015-01-01

    Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly heterogeneous disorder with many cases remaining unexplained. Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G, p.(Arg51Gly); the mutation was present in all five family members with the disease and appeared de novo in the first affected generation of the three-generational pedigree. MAB21L2 encodes a protein similar to C. elegans mab-21 cell fate-determining factor; the molecular function of MAB21L2 is largely unknown. To further evaluate the role of MAB21L2, zebrafish mutants carrying a p.(Gln48Serfs*5) frameshift truncation (mab21l2Q48Sfs*5) and a p.(Arg51_Phe52del) in-frame deletion (mab21l2R51_F52del) were developed with TALEN technology. Homozygous zebrafish embryos from both lines developed variable lens and coloboma phenotypes: mab21l2Q48Sfs*5 embryos demonstrated severe lens and retinal defects with complete lethality while mab21l2R51_F52del mutants displayed a milder lens phenotype and severe coloboma with a small number of fish surviving to adulthood. Protein studies showed decreased stability for the human p.(Arg51Gly) and zebrafish p.(Arg51_Phe52del) mutant proteins and predicted a complete loss-of-function for the zebrafish p.(Gln48Serfs*5) frameshift truncation. Additionally, in contrast to wild-type human MAB21L2 transcript, mutant p.(Arg51Gly) mRNA failed to efficiently rescue the ocular phenotype when injected into mab21l2Q48Sfs*5 embryos, suggesting this allele is functionally deficient. Histology, immunohistochemistry, and in situ hybridization experiments identified retinal invagination defects, an increase in cell death, abnormal proliferation patterns, and altered expression of several ocular markers in the mab21l2 mutants. These findings support the

  20. Schwinger mechanism and graphene

    SciTech Connect

    Allor, Danielle; Cohen, Thomas D.; McGady, David A.

    2008-11-01

    The Schwinger mechanism, the production of charged particle-antiparticle pairs in a macroscopic external electric field, is derived for 2+1-dimensional theories. The rate of pair production per unit area for four species of massless fermions, with charge q, in a constant electric field E is given by {pi}{sup -2}({Dirac_h}/2{pi}){sup -3/2}c-tilde{sup -1/2}(qE){sup 3/2} where c-tilde is the speed of light for the two-dimensional system. To the extent undoped graphene behaves like the quantum field-theoretic vacuum for massless fermions in 2+1 dimensions, the Schwinger mechanism should be testable experimentally. A possible experimental configuration for this is proposed. Effects due to deviations from this idealized picture of graphene are briefly considered. It is argued that with present day samples of graphene, tests of the Schwinger formula may be possible.

  1. Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndrome

    SciTech Connect

    Knoll, J.H.M.; Asamoah, A.; Wagstaff, J.

    1995-01-16

    We describe a child with downslanting palpebral fissures, preauricular malfunctions, congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q. Fluorescent in situ hybridization (FISH) analysis showed duplication of the IGLC locus, and C-banding of the duplicated region was negative. The duplication appears to involve 22q11.2-q12. Although the child has neither colobomas nor microphthalmia, he shows phenotypic overlap with with the cat eye syndrome, which is caused by a supernumerary bisatellited chromosome arising from inverted duplication of the short arm and proximal long arm of chromosome 22. Further molecular studies of this patient should help to define the regions responsible for the manifestations of cat eye syndrome. 17 refs., 3 figs., 1 tab.

  2. A 250 GHz gyrotron with a 3 GHz tuning bandwidth for dynamic nuclear polarization

    NASA Astrophysics Data System (ADS)

    Barnes, Alexander B.; Nanni, Emilio A.; Herzfeld, Judith; Griffin, Robert G.; Temkin, Richard J.

    2012-08-01

    We describe the design and implementation of a novel tunable 250 GHz gyrotron oscillator with >10 W output power over most of a 3 GHz band and >35 W peak power. The tuning bandwidth and power are sufficient to generate a >1 MHz nutation frequency across the entire nitroxide EPR lineshape for cross effect DNP, as well as to excite solid effect transitions utilizing other radicals, without the need for sweeping the NMR magnetic field. Substantially improved tunability is achieved by implementing a long (23 mm) interaction cavity that can excite higher order axial modes by changing either the magnetic field of the gyrotron or the cathode potential. This interaction cavity excites the rotating TE5,2,q mode, and an internal mode converter outputs a high-quality microwave beam with >94% Gaussian content. The gyrotron was integrated into a DNP spectrometer, resulting in a measured DNP enhancement of 54 on the membrane protein bacteriorhodopsin.

  3. Black brane solutions related to non-singular Kac-Moody algebras

    NASA Astrophysics Data System (ADS)

    Ivashchuk, V. D.; Melnikov, V. N.

    2011-01-01

    A multidimensional gravitational model containing scalar fields and antisymmetric forms is considered. The manifold is chosen in the form M = M_0 x M_1 x ... x M_n, where M_i are Einstein spaces (i > 0). The sigma-model approach and exact solutions with intersecting composite branes (e.g., solutions with harmonic functions and black brane ones) with intersection rules related to non-singular Kac-Moody (KM) algebras (e.g. hyperbolic ones) are considered. Some examples of black brane solutions are presented, e.g., those corresponding to hyperbolic KM algebras: H_2(q,q) (q > 2), HA_2^(1) = A_2^{++} and to the Lorentzian KM algebra P_{10}.

  4. ADAR2 affects mRNA coding sequence edits with only modest effects on gene expression or splicing in vivo.

    PubMed

    Dillman, Allissa A; Cookson, Mark R; Galter, Dagmar

    2016-01-01

    Adenosine deaminases bind double stranded RNA and convert adenosine to inosine. Editing creates multiple isoforms of neurotransmitter receptors, such as with Gria2. Adar2 KO mice die of seizures shortly after birth, but if the Gria2 Q/R editing site is mutated to mimic the edited version then the animals are viable. We performed RNA-Seq on frontal cortices of Adar2(-/-) Gria2(R/R) mice and littermates. We found 56 editing sites with significantly diminished editing levels in Adar2 deficient animals with the majority in coding regions. Only two genes and 3 exons showed statistically significant differences in expression levels. This work illustrates that ADAR2 is important in site-specific changes of protein coding sequences but has relatively modest effects on gene expression and splicing in the adult mouse frontal cortex. PMID:26669816

  5. Calculation of collisionally narrowed coherent anti-Stokes Raman spectroscopy spectra

    SciTech Connect

    Koszykowski, M.L.; Farrow, R.L.; Palmer, R.E.

    1985-10-01

    High-resolution coherent anti-Stokes Raman spectroscopy spectra of the N/sub 2/ Q branch at 294 K have been obtained at 1, 5, and 10 atm. Even at 1-atm pressure, disagreements with spectra calculated using the isolated line approximation were observed, indicating the importance of collisional narrowing effects in describing these spectra. A method of using the full G-matrix approach for the calculation of these spectra that is both exact and computationally efficient (requiring only one matrix diagonalization and inversion per spectrum) is discussed. Excellent agreement with experimental data is obtained using this method and a simple exponential gap model for the off-diagonal G-matrix elements.

  6. Discovering colorons at the early stage LHC

    SciTech Connect

    Dicus, Duane A.; Kao, Chung; Sayre, Joshua; Nandi, S.

    2011-05-01

    Prospects are investigated for the discovery of massive hypergluons using data from the early runs of the Large Hadron Collider. A center of mass energy of 7 TeV and an integrated luminosity of 1 fb{sup -1} or 5 fb{sup -1} are assumed. A phenomenological Lagrangian is adopted to evaluate the cross section of a pair of colored vector bosons (colorons, {rho}-tilde) decaying into four colored scalar resonances (hyperpions, {pi}-tilde), which then decay into eight gluons. The dominant eight-jet background from the production of 8g, 7g1q, 6g2q, and 5g3q is included. We find an abundance of signal events and that realistic cuts reduce the background enough to establish a 5{sigma} signal for the coloron mass of up to 733 GeV with 1 fb{sup -1} or 833 GeV with 5 fb{sup -1}.

  7. Ultra-high quality factors in superconducting niobium cavities in ambient magnetic fields up to 190 mG

    NASA Astrophysics Data System (ADS)

    Romanenko, A.; Grassellino, A.; Crawford, A. C.; Sergatskov, D. A.; Melnychuk, O.

    2014-12-01

    Ambient magnetic field, if trapped in the penetration depth, leads to the residual resistance and therefore sets the limit for the achievable quality factors in superconducting niobium resonators for particle accelerators. Here, we show that a complete expulsion of the magnetic flux can be performed and leads to: (1) record quality factors Q > 2 × 1011 up to accelerating gradient of 22 MV/m; (2) Q ˜ 3 × 1010 at 2 K and 16 MV/m in up to 190 mG magnetic fields. This is achieved by large thermal gradients at the normal/superconducting phase front during the cooldown. Our findings open up a way to ultra-high quality factors at low temperatures and show an alternative to the sophisticated magnetic shielding implemented in modern superconducting accelerators.

  8. Gene, Stem Cell, and Alternative Therapies for SCA 1

    PubMed Central

    Wagner, Jacob L.; O'Connor, Deirdre M.; Donsante, Anthony; Boulis, Nicholas M.

    2016-01-01

    Spinocerebellar ataxia 1 is an autosomal dominant disease characterized by neurodegeneration and motor dysfunction. In disease pathogenesis, polyglutamine expansion within Ataxin-1, a gene involved in transcriptional repression, causes protein nuclear inclusions to form. Most notably, neuronal dysfunction presents in Purkinje cells. However, the effect of mutant Ataxin-1 is not entirely understood. Two mouse models are employed to represent spinocerebellar ataxia 1, a B05 transgenic model that specifically expresses mutant Ataxin-1 in Purkinje cells, and a Sca1 154Q/2Q model that inserts the polyglutamine expansion into the mouse Ataxin-1 locus so that the mutant Ataxin-1 is expressed in all cells that express Ataxin-1. This review aims to summarize and evaluate the wide variety of therapies proposed for spinocerebellar ataxia 1, specifically gene and stem cell therapies. PMID:27570504

  9. Transient and residual stresses in dental porcelains as affected by cooling rates.

    PubMed

    Asaoka, K; Tesk, J A

    1989-06-01

    The development of either transient or residual stress in a slab of dental porcelain during cooling was simulated by use of a super-computer. The temperature dependences of the elastic modulus, the thermal expansion coefficient, and the shear viscosity, and the cooling rate dependence of the glass transition temperature, Tg, were considered in this calculation. Internal stress and viscoelastic creep were computed for several cooling rates. Calculated results display stress profiles which agree reasonably well with reported measured profiles in quenched, tempered glasses. The calculated residual surface stress, sigma, could be fit by the following empirical formula, sigma = kl2(q/q0)n, q is the cooling rate, q0 is a reference cooling rate and l is the half-thickness of the porcelain. The method by which residual stress develops is also discussed. This discussion suggests a method for strengthening of the porcelain by the development of high-compressive residual stress on the surface. PMID:2638963

  10. Corrélations entre propriétésélectriques et structurales de solutions solides de type fluorinea`exce`s d'anions: Essai de mode`lisation

    NASA Astrophysics Data System (ADS)

    Reau, J. M.; Senegas, J.; El Omari, M.

    1990-02-01

    In a fluoride ion excess CaF 2-type solid solution of formulation M 2+1-xM' 2+αxF 2+αx (α = 1, 2, 3) , the sum of the interstitial fluoride ions n F int and the sum of the vacancies in normal sites n □ can be represented according to general equations y = (mx 3 + λqx)(x 2 + q) : the m and λ parameters depend on structural features, and q is bound to electrical properties. This model allows one to correlate in a continuous way the composition dependence of electrical properties and the progressive extension of clusterization when the substitution rate increases.

  11. PAX3 gene deletion detected by microarray analysis in a girl with hearing loss.

    PubMed

    Drozniewska, Malgorzata; Haus, Olga

    2014-01-01

    Deletions of the PAX3 gene have been rarely reported in the literature. Mutations of this gene are a common cause of Waardenburg syndrome type 1 and 3. We report a 16 year old female presenting hearing loss and normal intellectual development, without major features of Waardenburg syndrome type 1, and without family history of the syndrome. Her phenotype, however, overlaps with features of craniofacial-deafness-hand syndrome. Microarray analysis showed ~862 kb de novo deletion at 2q36.1 including PAX3. The above findings suggest that the rearrangement found in our patient appeared de novo and with high probability is a cause of her phenotype. PMID:24839464

  12. Global Well-Posedness for Navier-Stokes Equations with Small Initial Value in {B0_{n,∞}(Ω)}

    NASA Astrophysics Data System (ADS)

    Ri, Myong-Hwan; Zhang, Ping; Zhang, Zhifei

    2016-03-01

    We prove global well-posedness for instationary Navier-Stokes equations with initial data in Besov space {B0_{n,∞}(Ω)} in whole and half space, and bounded domains of Rn, {n ≥ 3}. To this end, we prove maximal {L^{∞}_{γ}} -regularity of the sectorial operators in some Banach spaces and, in particular, maximal {L^{∞}_{γ}} -regularity of the Stokes operator in little Nikolskii spaces {bs_{q,∞}(Ω)}, {s in (-1, 2)}, which are of independent significance. Then, based on the maximal regularity results and {b^{s1}_{q1,∞}-B^{s2}_{q_{2,1}}} estimates of the Stokes semigroups, we prove global well-posedness for Navier-Stokes equations under smallness condition on {u0_{B0_{n,∞}(Ω)}} via a fixed point argument using Banach fixed point theorem.

  13. Classification of knotted tori in 2-metastable dimension

    SciTech Connect

    Cencelj, Matija; Repovs, Dusan; Skopenkov, Mihail B

    2012-11-30

    This paper is devoted to the classical Knotting Problem: for a given manifold N and number m describe the set of isotopy classes of embeddings N{yields}S{sup m}. We study the specific case of knotted tori, that is, the embeddings S{sup p} Multiplication-Sign S{sup q}{yields}S{sup m}. The classification of knotted tori up to isotopy in the metastable dimension range m {>=} p + 3/2q + 2, p{<=}q, was given by Haefliger, Zeeman and A. Skopenkov. We consider the dimensions below the metastable range and give an explicit criterion for the finiteness of this set of isotopy classes in the 2-metastable dimension. Bibliography: 35 titles.

  14. Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis.

    PubMed

    Hou, Jia-Woei

    2004-05-01

    Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14. His karyotype is described as hitherto unreported mos 46, XY, r(14)(p11.2q32.31 or q32.2)[84]/45, XY,-14[10]/46, XY, dic r(14)[6]. His seizures responded well to phenobarbital. He has marked growth retardation but less serious delays in mental and motor development than those with ring 14 described in the literature. PMID:15366814

  15. Single-shot hyperspectral coherent Raman planar imaging in the range 0-4200 cm-1

    NASA Astrophysics Data System (ADS)

    Bohlin, Alexis; Kliewer, Christopher J.

    2014-10-01

    We propose a technique for ultrabroadband planar coherent Raman spectroscopy that enables wideband chemically selective mapping of molecular partition functions in the gas-phase within a single-laser-shot. A spectral region spanning 0-4200 cm-1 is excited simultaneously, in principle allowing for coherent planar imaging of most all fundamental Raman-active modes. This unique instantaneous and spatially correlated assessment enables multiplexed studies of transient dynamical systems in a two-dimensional (2D) field. Here, we demonstrate single-laser-shot high temperature diagnostics of H2, with spatially resolved 2D measurement of transitions of both the pure-rotational H2 S-branch and the vibrational H2 Q-branch, analyzing the temperature contour of a reacting fuel-species as it evolves at a flame-front.

  16. Ballistic Motion in One-Dimensional Quasi-Periodic Discrete Schrödinger Equation

    NASA Astrophysics Data System (ADS)

    Zhao, Zhiyan

    2016-03-01

    For the solution {q(t)=(q_n(t))_{nin{{Z}}}} to one-dimensional discrete Schrödinger equation idot{q}_n=-(q_{n+1}+q_{n-1})+ V(θ+nω) q_n, quad nin{Z}, with {ωin{{R}}^d} Diophantine, and {V} a real-analytic function on {{{T}}^d} , we consider the growth rate of the diffusion norm {|q(t)|D:=(sumnn^2|q_n(t)|^2)^{1/2}} for any non-zero {q(0)} with {|q(0)|D < ∞} . We prove that {|q(t)|D} grows linearly with the time {t} for any {θin{{T}}^d} if {V} is sufficiently small.

  17. Structure and chromosomal localization of the human homeobox gene Prox 1

    SciTech Connect

    Zinovieva, R.D.; Duncan, M.K.; Johnson, T.R.

    1996-08-01

    The genomic organization and nucleotide sequence of the human homeobox gene Prox 1 as well as its chromosomal localization have been determined. This gene spans more than 40 kb, consists of at least 5 exons, and encodes an 83-kDa protein. It shows 89% identity with the chicken sequence at the nucleotide level in the coding region, while the human and chicken proteins are 94% identical. Among the embryonic tissues analyzed (lens, brain, lung, liver, and kidney), the human Prox 1 gene is most actively expressed i the developing lens, similar to the expression pattern of the chicken Prox 1 gene. The Prox 1 gene was mapped to human chromosome 1q32.2-q32.3. 26 refs., 6 figs.

  18. Density and correlation integrals in deep-inelastic muon-nucleon scattering at 490 GeV

    NASA Astrophysics Data System (ADS)

    Adams, M. R.; Aïd, S.; Anthony, P. L.; Baker, M. D.; Bartlett, J.; Bhatti, A. A.; Botterweck, F.; Braun, H. M.; Busza, W.; Conrad, J. M.; Coutrakon, G.; Davisson, R.; Derado, I.; Dhawan, S. K.; Dougherty, W.; Dreyer, T.; Dziunikowska, K.; Eckardt, V.; Ecker, U.; Erdmann, M.; Eskreys, A.; Figiel, J.; Gebauer, H. J.; Geesaman, D. F.; Gilman, R.; Green, M. C.; Haas, J.; Halliwell, C.; Hanlon, J.; Hantke, D.; Hughes, V. W.; Jackson, H. E.; Jaffe, D. E.; Jancso, G.; Jansen, D. M.; Kadija, K.; Kaufman, S.; Kennedy, R. D.; Kirk, T.; Kobrak, H. G. E.; Krzywdzinski, S.; Kunori, S.; Lord, J. J.; Lubatti, H. J.; McLeod, D.; Magill, S.; Malecki, P.; Manz, A.; Melanson, H.; Michael, D. G.; Mohr, W.; Montgomery, H. E.; Morfin, J. G.; Nickerson, R. B.; O'Day, S.; Olkiewicz, K.; Osborne, L.; Papavassiliou, V.; Pawlik, B.; Pipkin, F. M.; Ramberg, E. J.; Röser, A.; Ryan, J. J.; Salgado, C. W.; Salvarani, A.; Schellman, H.; Schmitt, M.; Schmitz, N.; Schüler, K. P.; Seyerlein, H. J.; Skuja, A.; Snow, G. A.; Söldner-Rembold, S.; Steinberg, P. H.; Stier, H. E.; Stopa, P.; Swanson, R. A.; Talaga, R.; Tentindo-Repond, S.; Trost, H.-J.; Venkataramania, H.; Wilhelm, M.; Wilkes, J.; Wilson, Richard; Wittek, W.; Wolbers, S. A.; Zhao, T.; Fermilab E665 Collaboration

    1994-09-01

    Results on density integrals Fq( Q2) and correlation integrals Kq( Q2) are presented for the first time in muon-nucleon scattering at ∼ 490 GeV, using data from the E665 experiment at the Tevatron of Fermilab. A clear rise of the Fq integrals with decreasing size of the phase-space cells (“intermittency”) is observed for pairs and triplets of negative hadrons whereas the effect is much weaker for mixed charge combinations. From these findings it is concluded that the observed intermittency signal is mainly caused by Bose-Einstein interference. Furthermore, no energy ( W) dependence of F2( Q2) is observed within the W range of the E665 experiment. Finally, the third-order correlation integrals K3( Q2) are found to be significantly different from zero which implies the presence of genuine three-particle correlations in muon-nucleon interactions.

  19. A 250 GHz Gyrotron with a 3 GHz Tuning Bandwidth for Dynamic Nuclear Polarization

    PubMed Central

    Barnes, Alexander B.; Nanni, Emilio A.; Herzfeld, Judith; Griffin, Robert G.; Temkin, Richard J.

    2012-01-01

    We describe the design and implementation of a novel tunable 250 GHz gyrotron oscillator with >10 W output power over most of a 3 GHz band and >35 W peak power. The tuning bandwidth and power are sufficient to generate a >1 MHz nutation frequency across the entire nitroxide EPR lineshape for cross effect DNP, as well as to excite solid effect transitions utilizing other radicals, without the need for sweeping the NMR magnetic field. Substantially improved tunability is achieved by implementing a long (23 mm) interaction cavity that can excite higher order axial modes by changing either the magnetic field of the gyrotron or the cathode potential. This interaction cavity excites the rotating TE5,2,q mode, and an internal mode converter outputs a high-quality microwave beam with >94% Gaussian content. The gyrotron was integrated into a DNP spectrometer, resulting in a measured DNP enhancement of 54 on the membrane protein bacteriorhodopsin. PMID:22743211

  20. Measurement of the tensor structure function b1 of the deuteron.

    PubMed

    Airapetian, A; Akopov, N; Akopov, Z; Amarian, M; Ammosov, V V; Andrus, A; Aschenauer, E C; Augustyniak, W; Avakian, R; Avetissian, A; Avetissian, E; Bailey, P; Balin, D; Baturin, V; Beckmann, M; Belostotski, S; Bernreuther, S; Bianchi, N; Blok, H P; Böttcher, H; Borissov, A; Borysenko, A; Bouwhuis, M; Brack, J; Brüll, A; Bryzgalov, V; Capitani, G P; Chen, T; Chiang, H C; Ciullo, G; Contalbrigo, M; Dalpiaz, P F; De Leo, R; Demey, M; De Nardo, L; De Sanctis, E; Devitsin, E; Di Nezza, P; Dreschler, J; Düren, M; Ehrenfried, M; Elalaoui-Moulay, A; Elbakian, G; Ellinghaus, F; Elschenbroich, U; Fabbri, R; Fantoni, A; Fechtchenko, A; Felawka, L; Fox, B; Frullani, S; Gapienko, G; Gapienko, V; Garibaldi, F; Garrow, K; Garutti, E; Gaskell, D; Gavrilov, G; Gharibyan, V; Graw, G; Grebeniouk, O; Greeniaus, L G; Gregor, I M; Hafidi, K; Hartig, M; Hasch, D; Heesbeen, D; Henoch, M; Hertenberger, R; Hesselink, W H A; Hillenbrand, A; Hoek, M; Holler, Y; Hommez, B; Iarygin, G; Ivanilov, A; Izotov, A; Jackson, H E; Jgoun, A; Kaiser, R; Kinney, E; Kisselev, A; Kopytin, M; Korotkov, V; Kozlov, V; Krauss, B; Krivokhijine, V G; Lagamba, L; Lapikás, L; Laziev, A; Lenisa, P; Liebing, P; Linden-Levy, L A; Lipka, K; Lorenzon, W; Lu, H; Lu, J; Lu, S; Ma, B-Q; Maiheu, B; Makins, N C R; Mao, Y; Marianski, B; Marukyan, H; Masoli, F; Mexner, V; Meyners, N; Mikloukho, O; Miller, C A; Miyachi, Y; Muccifora, V; Nagaitsev, A; Nappi, E; Naryshkin, Y; Nass, A; Negodaev, M; Nowak, W-D; Oganessyan, K; Ohsuga, H; Pickert, N; Potashov, S; Potterveld, D H; Raithel, M; Reggiani, D; Reimer, P E; Reischl, A; Reolon, A R; Riedl, C; Rith, K; Rosner, G; Rostomyan, A; Rubacek, L; Rubin, J; Ryckbosch, D; Salomatin, Y; Sanjiev, I; Savin, I; Schäfer, A; Schill, C; Schnell, G; Schüler, K P; Seele, J; Seidl, R; Seitz, B; Shanidze, R; Shearer, C; Shibata, T-A; Shutov, V; Simani, M C; Sinram, K; Stancari, M; Statera, M; Steffens, E; Steijger, J J M; Stenzel, H; Stewart, J; Stinzing, F; Stösslein, U; Tait, P; Tanaka, H; Taroian, S; Tchuiko, B; Terkulov, A; Tkabladze, A; Trzcinski, A; Tytgat, M; Vandenbroucke, A; van der Nat, P B; van der Steenhoven, G; Vetterli, M C; Vikhrov, V; Vincter, M G; Vogel, C; Vogt, M; Volmer, J; Weiskopf, C; Wendland, J; Wilbert, J; Ye, Y; Ye, Z; Yen, S; Zihlmann, B; Zupranski, P

    2005-12-01

    The Hermes experiment has investigated the tensor spin structure of the deuteron using the 27.6 GeV/c positron beam of DESY HERA. The use of a tensor-polarized deuteron gas target with only a negligible residual vector polarization enabled the first measurement of the tensor asymmetry A(d)zz and the tensor structure function b(d)1 for average values of the Bjorken variable 0.01< <0.45 and of the negative of the squared four-momentum transfer 0.5 GeV2 < <Q2> <5 GeV2. The quantities A(d)zz and b(d)1 are found to be nonzero. The rise of b(d)1 for decreasing values of x can be interpreted to originate from the same mechanism that leads to nuclear shadowing in unpolarized scattering. PMID:16384369

  1. Utility Advanced Turbine System (ATS) technology readiness testing and pre-commercial demonstration -- Phase 3. Quarterly report, April 1--June 30, 1996

    SciTech Connect

    1996-12-31

    The overall objective of the Advanced Turbine System (ATS) Phase 3 Cooperative Agreement between GE and the US Department of Energy (DOE) is the development of the GE 7H and 9H combined cycle power systems. The major effort will be expended on detailed design. Validation of critical components and technologies will be performed including: hot gas path component testing, sub-scale compressor testing, steam purity test trials, and rotational heat transfer confirmation testing. Processes will be developed to support the manufacture of the first system, which will be sited and operated in Phase 4. Technology enhancements that are not required for the first machine design but will be critical for future ATS advances in performance, reliability, and costs will be initiated. Long-term tests of materials to confirm design life predictions will continue. This report summarizes work accomplished during the period 2Q96.

  2. Physical Principles of Skeletal Minerals Revealed with Spectromicroscopy

    ScienceCinema

    Gilbert, Pupa [U of Wisconsin-Madison, Wisconsin, United States

    2010-01-08

    Skeletal elements of marine and terrestrial organisms have the most fascinating nano-to-macro-structures, attracting the attention of physicists, biologists, chemists, and materials scientists. Using X-PEEM spectromicroscopy we revealed some of the fundamental mechanisms leading to the formation of these biominerals. Specifically, we addressed the following questions and provided the answers: 1Q) How do teeth, bones, and echinoderm and mollusk shells acquire their unusual, curved and complex morphology, if they are composed of single crystals? 1A) Via amorphous precursor phases; 2Q) How does crystallinity propagate through the amorophous precursor phases in sea urchin spicules and teeth? 2A) By secondary nucleation, following random walk patterns; 3Q) How does iridescent mother-of-pearl become ordered? 3A) Gradually, through a kinetic mechanisms in which fastest growing single-crystals win the competition for space, thus end up being approximately co-oriented.

  3. Measurement of R = {sigma}{sub L}/{sigma}{sub T} and the Separated Longitudinal and Transverse Structure Functions in the Nucleon Resonance Region

    SciTech Connect

    Yongguang Liang; Michael Christy; Abdellah Ahmidouch; Christopher Armstrong; John Arrington; Arshak Asaturyan; Steven Avery; O. Baker; Douglas Beck; Henk Blok; C.W. Bochna; Werner Boeglin; Peter Bosted; Maurice Bouwhuis; Herbert Breuer; Daniel Brown; Antje Bruell; Roger Carlini; Jinseok Cha; Nicholas Chant; Anthony Cochran; Leon Cole; Samuel Danagoulian; Donal Day; James Dunne; Dipangkar Dutta; Rolf Ent; Howard Fenker; B. Fox; Liping Gan; Haiyan Gao; Kenneth Garrow; David Gaskell; Ashot Gasparian; Don Geesaman; Ronald Gilman; Paul Gueye; Mark Harvey; Roy Holt; Xiaodong Jiang; Mark Jones; Cynthia Keppel; Edward Kinney; Wolfgang Lorenzon; Allison Lung; David Mack; Pete Markowitz; J.W. Martin; Kevin McIlhany; Daniella Mckee; David Meekins; M.A. Miller; Richard Milner; Joseph Mitchell; Hamlet Mkrtchyan; Robert Mueller; Alan Nathan; Gabriel Niculescu; Maria-Ioana Niculescu; Thomas O'neill; Vassilios Papavassiliou; Stephen Pate; Rodney Piercey; David Potterveld; Ronald Ransome; Joerg Reinhold; E. Rollinde; Oscar Rondon-Aramayo; Philip Roos; Adam Sarty; Reyad Sawafta; Elaine Schulte; Edwin Segbefia; C. Smith; Samuel Stepanyan; Steffen Strauch; Vardan Tadevosyan; Liguang Tang; Raphael Tieulent; Vladas Tvaskis; Alicia Uzzle; William Vulcan; Stephen Wood; Feng Xiong; Lulin Yuan; Markus Zeier; Benedikt Zihlmann; Vitaliy Ziskin

    2004-10-01

    We report on a detailed study of longitudinal strength in the nucleon resonance region, presenting new results from inclusive electron-proton cross sections measured at Jefferson Lab Hall C in the four-momentum transfer range 0.2 < Q{sup 2} < 5.5 GeV{sup 2}. The data have been used to accurately perform over 170 Rosenbluth-type longitudinal/transverse separations. The precision R = {sigma}{sub L}/{sigma}{sub T} data are presented here, along with the first separate values of the inelastic structure functions F{sub 1} and F{sub L} in this regime. The resonance longitudinal component is found to be significant. With the new data, quark-hadron duality is observed above Q{sup 2} = 1 GeV{sup 2} in the separated structure functions independently.

  4. New asymmetric quantum codes over Fq

    NASA Astrophysics Data System (ADS)

    Ma, Yuena; Feng, Xiaoyi; Xu, Gen

    2016-07-01

    Two families of new asymmetric quantum codes are constructed in this paper. The first family is the asymmetric quantum codes with length n=qm-1 over Fq, where qge 5 is a prime power. The second one is the asymmetric quantum codes with length n=3m-1. These asymmetric quantum codes are derived from the CSS construction and pairs of nested BCH codes. Moreover, let the defining set T1=T2^{-q}, then the real Z-distance of our asymmetric quantum codes are much larger than δ _max+1, where δ _max is the maximal designed distance of dual-containing narrow-sense BCH code, and the parameters presented here have better than the ones available in the literature.

  5. Solid-state {sup 17}O magic-angle and dynamic-angle spinning NMR study of the SiO{sub 2} polymorph coesite

    SciTech Connect

    Grandinetti, P.J.; Baltisberger, J.H.; Farnan, I.; Stebbins, J.F.; Werner, U.; Pines, A. |

    1995-08-10

    Five distinctly resolved {sup 17}O solid-state NMR resonances in room temperature coesite, an SiO{sub 2} polymorph, have been observed and assigned using dynamic angle spinning (DAS) at 11.7 T along with magic angle spinning (MAS) spectra at 9.4 and 11.7 T. The {sup 17}O quadrupolar parameters for each of the five oxygen environments in coesite are correlated with the Si-O-Si bridging bond angles determined by diffraction experiments. The sign of e{sup 2}-qQ/h along with the orientation of the electric field gradient for oxygen in the Si-O-Si linkage were determined from a Townes-Dailey analysis of the data. 41 refs., 7 figs., 5 tabs.

  6. Origin of human chromosome 2: An ancestral telomere-telomere fusion

    SciTech Connect

    Ijdo, J.W.; Baldini, A.; Ward, D.C.; Reeders, S.T.; Wells, R.A. )

    1991-10-15

    The authors identified two allelic genomic cosmids from human chromosome 2, c8.1 and c29B, each containing two inverted arrays of the vertebrate telomeric repeat in a head-to-head arrangement, 5{prime}(TTAGGG){sub n}-(CCCTAA){sub m}3{prime}. Sequences flanking this telomeric repeat are characteristic of present-day human pretelomeres. BAL-31 nuclease experiments with yeast artificial chromosome clones of human telomeres and fluorescence in situ hybridization reveal that sequences flanking these inverted repeats hybridize both to band 2q13 and to different, but overlapping, subsets of human chromosome ends. They conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2.

  7. Non compact continuum limit of two coupled Potts models

    NASA Astrophysics Data System (ADS)

    Vernier, Éric; Lykke Jacobsen, Jesper; Saleur, Hubert

    2014-10-01

    We study two Q-state Potts models coupled by the product of their energy operators, in the regime 2 < Q ⩽ 4 where the coupling is relevant. A particular choice of weights for the square lattice is shown to be equivalent to the integrable a_3(2) vertex model. It corresponds to a selfdual system of two antiferromagnetic Potts models, coupled ferromagnetically. We derive the Bethe ansatz equations and study them numerically for two arbitrary twist angles. The continuum limit is shown to involve two compact bosons and one non compact boson, with discrete states emerging from the continuum at appropriate twists. The non compact boson entails strong logarithmic corrections to the finite-size behaviour of the scaling levels, an understanding of which allows us to correct an earlier proposal for some of the critical exponents. In particular, we infer the full set of magnetic scaling dimensions (watermelon operators) of the Potts model.

  8. Synovial sarcoma specific translocation associated with both epithelial and spindle cell components.

    PubMed

    Birdsall, S; Osin, P; Lu, Y J; Fisher, C; Shipley, J

    1999-08-12

    The biphasic subtype of synovial sarcoma consists of both epithelial and spindle cell components. To address the relationship between the different cellular components found in synovial sarcoma, we deduced the presence of the synovial sarcoma-specific der(X)t(X;18)(p11.2;q11.2), and involvement of the SSX1 gene in both the epithelial/glandular and spindle cell components of 3 biphasic synovial sarcomas with wide ranging proportions of each of the 2 elements. This has been achieved using a 2-color fluorescence in situ hybridization (FISH) methodology that we had developed recently for analysis paraffin-embedded material. The presence of the rearrangement could be deduced in histologically defined regions and the results showed clearly that the rearrangement was present in both cellular components. This finding provides direct genetic evidence for biphasic synovial sarcomas being clonal and truly biphasic. PMID:10404078

  9. HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease

    PubMed Central

    Sepahi, Mohsen Akhavan; Baraty, Behrouz; Shooshtary, Fatemeh Khalifeh

    2010-01-01

    Background HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Hirschsprung (HSCR) disease is a variable congenital absence of ganglion cells of the enteric nervous system resulting in degrees of functional bowel obstruction. Rarer chromosomal anomalies are reported in combination with Hirschsprung disease like DiGeorge syndrome, mosaic trisomy 8, XXY chromosomal constitution, partial duplication of chromosome 2q, tetrasomy 9p, and 20p deletion. Case Presentation Here, we describe an 8 year-old girl with HDR syndrome accompanied by Hirschsprung disease. Although the association of Hirschsprung disease with chromosomal anomalies has been reported, according to our knowledge, this is the first report of associated HSCR with HDR syndrome. PMID:23056694

  10. A candidate gene approach for the genetic analysis of susceptibility to tuberculosis

    SciTech Connect

    Morgan, K.; Liu, J.; Boothroyd, L.

    1994-09-01

    Tuberculosis is the most frequent and severe human disease caused by mycobacteria. In the mouse a candidate gene for innate resistance to mycobacteria (Bcg) was recently isolated and termed Nramp. We used SSCA and DNA sequencing to identify mutations in the human homologue, NRAMP, in chromosome region 2q35 in order to test if NRAMP contributes to susceptibility to tuberculosis. We have identified 16 sequence variants in or near NRAMP and defined haplotypes segregating in multiplex tuberculosis families from Canada, Columbia and Hong Kong. We defined a recessive susceptibility model for linkage analysis with four liability classes which take into account clinical status, age, exposure, and BCG vaccination. Our preliminary results support a role of NRAMP in tuberculosis susceptibility in an epidemic situation. This research was supported by grants from the Medical Research Council of Canada and the Canadian Genetic Diseases Network.

  11. Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2.

    PubMed

    Morris, Mark R; Astuti, Dewi; Maher, Eamonn R

    2013-04-01

    Perlman syndrome is a rare autosomal recessively inherited congenital overgrowth syndrome characterized by polyhydramnios, macrosomia, characteristic facial dysmorphology, renal dysplasia and nephroblastomatosis and multiple congenital anomalies. Perlman syndrome is associated with high neonatal mortality and, survivors have developmental delay and a high risk of Wilms tumor. Recently a Perlman syndrome locus was mapped to chromosome 2q37 and homozygous or compound heterozygous mutations were characterized in DIS3L2. The DIS3L2 gene product has ribonuclease activity and homology to the DIS3 component of the RNA exosome. It has been postulated that the clinical features of Perlman syndrome result from disordered RNA metabolism and, though the precise targets of DIS3L2 have yet to be characterized, in cellular models DIS3L2 knockdown is associated with abnormalities of cell growth and division. © 2013 Wiley Periodicals, Inc. PMID:23576526

  12. Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.

    PubMed

    Morris, Mark R; Astuti, Dewi; Maher, Eamonn R

    2013-05-01

    Perlman syndrome is a rare autosomal recessively inherited congenital overgrowth syndrome characterized by polyhydramnios, macrosomia, characteristic facial dysmorphology, renal dysplasia and nephroblastomatosis and multiple congenital anomalies. Perlman syndrome is associated with high neonatal mortality and, survivors have developmental delay and a high risk of Wilms tumor. Recently a Perlman syndrome locus was mapped to chromosome 2q37 and homozygous or compound heterozygous mutations were characterized in DIS3L2. The DIS3L2 gene product has ribonuclease activity and homology to the DIS3 component of the RNA exosome. It has been postulated that the clinical features of Perlman syndrome result from disordered RNA metabolism and, though the precise targets of DIS3L2 have yet to be characterized, in cellular models DIS3L2 knockdown is associated with abnormalities of cell growth and division. PMID:23613427

  13. Observation of scaling of the photon structure function Fγ2 at low Q2

    NASA Astrophysics Data System (ADS)

    Aihara, H.; Alston-Garnjost, M.; Avery, R. E.; Barbaro-Galtieri, A.; Barker, A. R.; Barnes, A. V.; Barnett, B. A.; Bauer, D. A.; Bengtsson, P. H.; Bintinger, D. L.; Bobbink, G. J.; Bolognese, T. S.; Bross, A. D.; Buchanan, C. D.; Buijs, A.; Caldwell, D. O.; Clark, A. R.; Cowan, G. D.; Crane, D. A.; Dahl, O. I.; Derby, K. A.; Eastman, J. J.; Eberhard, P. H.; Edberg, T. K.; Eisner, A. M.; Enomoto, R.; Erné, F. C.; Fujii, T.; Gary, J. W.; Gorn, W.; Hauptman, J. M.; Hofmann, W.; Huth, J. E.; Hylen, J.; Kamae, T.; Kaye, H. S.; Kees, K. H.; Kenney, R. W.; Kerth, L. T.; Ko, Winston; Koda, R. I.; Kofler, R. R.; Kwong, K. K.; Lander, R. L.; Langeveld, W. G.; Layter, J. G.; Linde, F. L.; Lindsey, C. S.; Loken, S. C.; Lu, A.; Lu, X.-Q.; Lynch, G. R.; Madaras, R. J.; Maeshima, K.; Magnuson, B. D.; Marx, J. N.; Masek, G. E.; Mathis, L. G.; Matthews, J. A.; Maxfield, S. J.; Melnikoff, S. O.; Miller, E. S.; Moses, W.; McNeil, R. R.; Nemethy, P.; Nygren, D. R.; Oddone, P. J.; Paar, H. P.; Park, D. A.; Park, S. K.; Pellett, D. E.; Pripstein, M.; Ronan, M. T.; Ross, R. R.; Rouse, F. R.; Schwitkis, K. A.; Sens, J. C.; Shapiro, G.; Shapiro, M. D.; Shen, B. C.; Slater, W. E.; Smith, J. R.; Steinman, J. S.; Stevenson, M. L.; Stork, D. H.; Strauss, M. G.; Sullivan, M. K.; Takahashi, T.; Thompson, J. R.; Toge, N.; Toutounchi, S.; van Tyen, R.; van Uitert, B.; Vandalen, G. J.; van Daalen Wetters, R. F.; Vernon, W.; Wagner, W.; Wang, E. M.; Wang, Y. X.; Wayne, M. R.; Wenzel, W. A.; White, J. T.; Williams, M. C.; Wolf, Z. R.; Yamamoto, H.; Yellin, S. J.; Zeitlin, C.; Zhang, W.-M.

    1987-01-01

    The structure function Fγ2 for a quasireal photon has been measured in the reaction ee-->eeX for Q2 in the range 0.2<Q2<7 GeV2, by use of 9200 multihadron events obtained with the TPC/Two-Gamma detector at the SLAC storage ring PEP. The data have been corrected for detector effects by a regularized unfolding procedure and are presented as Fγ2(x,Q2). The structure function shows scaling in the region 0.30.1. Below Q2=0.3 GeV2, scaling breaks down in accordance with the finite cross-section bound for real photons.

  14. Collective excitations in liquid CD4: Neutron scattering and molecular-dynamics simulations

    NASA Astrophysics Data System (ADS)

    Guarini, E.; Bafile, U.; Barocchi, F.; Demmel, F.; Formisano, F.; Sampoli, M.; Venturi, G.

    2005-12-01

    We have investigated the dynamic structure factor S(Q,ω) of liquid CD4 at T = 97.7 K in the wave vector range 2 <= Q/nm-1 <= 15 by means of neutron scattering and molecular-dynamics simulation, in order to study the centre-of-mass collective dynamics. The agreement between the experimental spectra and those simulated using a recent ab initio based intermolecular potential is good, particularly at low Q. Underdamped collective excitations, detected in the whole experimental Q-range, characterize the dynamics of liquid CD4 as markedly different from that of other molecular liquids. Also, the energy and damping of collective excitations in methane are shown to differ considerably, even at the lowest measured Q-values, from those of linearized hydrodynamic modes. An empirical relation, able to reconcile the different wave vector ranges of mode propagation observed in disparate liquids, is investigated.

  15. Parity Violation Inelastic Scattering Experiments at 6 GeV and 12 GeV Jefferson Lab

    SciTech Connect

    Sulkosky, Vincent A.; et. al.,

    2015-03-01

    We report on the measurement of parity-violating asymmetries in the deep inelastic scattering and nucleon resonance regions using inclusive scattering of longitudinally polarized electrons from an unpolarized deuterium target. The effective weak couplings C$_{2q}$ are accessible through the deep-inelastic scattering measurements. Here we report a measurement of the parity-violating asymmetry, which yields a determination of 2C$_{2u}$ - C$_{2d}$ with an improved precision of a factor of five relative to the previous result. This result indicates evidence with 95% confidence that the 2C$_{2u}$ - C$_{2d}$ is non-zero. This experiment also provides the first parity-violation data covering the whole resonance region, which provide constraints on nucleon resonance models. Finally, the program to extend these measurements at Jefferson Lab in the 12 GeV era using the Solenoidal Large Intensity Device was also discussed.

  16. Hadronic production of W and Z bosons at large transverse momentum

    NASA Astrophysics Data System (ADS)

    Berger, Edmond L.; Gao, Jun; Kang, Zhong-Bo; Qiu, Jian-Wei; Zhang, Hao

    2015-06-01

    We introduce a modified factorization formalism in quantum chromodynamics for hadronic production of W and Z bosons at large transverse momentum pT. When pT is much larger than the invariant mass Q of the vector boson, this new factorization formalism systematically resums the large fragmentation logarithms, αsmlnm(pT2/Q2) , to all orders in the strong coupling αs. Using our modified factorization formalism, we present the next-to-leading-order (NLO) predictions for W and Z boson production at high pT at the CERN Large Hadron Collider and at a future 100 TeV proton-proton collider. Our NLO results are about 5% larger in normalization, and they show improved convergence and moderate reduction of the scale variation compared to the NLO predictions derived in a conventional fixed-order perturbative expansion.

  17. A near-boundary modification for the link bounce-back boundary condition in the lattice Boltzmann method

    NASA Astrophysics Data System (ADS)

    Olson, Nathan M.

    2015-11-01

    The bounce-back boundary condition in the lattice Boltzmann method distorts curved or inclined boundaries by forcing them to conform to a rectangular grid. This paper proposes a modification that reduces the effect of this discretization on the fluid flow. The modification takes the form of the addition of a type of node that is neither solid nor fluid, called the "sticky node". Sticky nodes are used in all cells that contain both fluid and solid. They are treated like fluid nodes with modified viscosity, body force, and velocity calculation. The method is applied to the LBGK model on a D2Q9 grid, and the accuracy of the method is evaluated using several test cases. Decreased discretization artifacts and decreased sensitivity to grid alignment are demonstrated, compared to the standard link bounce-back boundary condition. The method is computationally efficient, local, and demonstrates good numerical stability.

  18. Quantification of tidal parameters from Solar System data

    NASA Astrophysics Data System (ADS)

    Lainey, Valéry

    2016-05-01

    Tidal dissipation is the main driver of orbital evolution of natural satellites and a key point to understand the exoplanetary system configurations. Despite its importance, its quantification from observations still remains difficult for most objects of our own Solar System. In this work, we overview the method that has been used to determine, directly from observations, the tidal parameters, with emphasis on the Love number k_2 and the tidal quality factor Q. Up-to-date values of these tidal parameters are summarized. Last, an assessment on the possible determination of the tidal ratio k_2/Q of Uranus and Neptune is done. This may be particularly relevant for coming astrometric campaigns and future space missions focused on these systems.

  19. Numerical simulation of tidal evolution of a viscoelastic body modelled with a mass-spring network

    NASA Astrophysics Data System (ADS)

    Frouard, Julien; Quillen, Alice C.; Efroimsky, Michael; Giannella, David

    2016-05-01

    We use a damped mass-spring model within an N-body code to simulate the tidal evolution of the spin and orbit of a self-gravitating viscoelastic spherical body moving around a point-mass perturber. The damped mass-spring model represents a Kelvin-Voigt viscoelastic solid. We measure the tidal quality function (the dynamical Love number k2 divided by the tidal quality factor Q) from the numerically computed tidal drift of the semimajor axis of the binary. The shape of k2/Q, as a function of the principal tidal frequency, reproduces the kink shape predicted by Efroimsky for the tidal response of near-spherical homogeneous viscoelastic rotators. We demonstrate that we can directly simulate the tidal evolution of spinning viscoelastic objects. In future, the mass-spring N-body model can be generalized to inhomogeneous and/or non-spherical bodies.

  20. Familial 10p trisomy resulting from a maternal pericentric inversion

    SciTech Connect

    Kozma, C.; Meck, J.M.

    1994-02-01

    The authors report a familial recombination of a pericentric inversion of chromosome 10 resulting in 2 affected relatives who had 10p trisomy and 10q monosomy with the karyotypic abnormality designated rec(10) dup p,inv(10) (p11.2q26). Both of these individuals had the typical characteristics of 10p trisomy, however, at birth the proposita had mild facial anomalies suggesting that the distinct facial characteristics may be of postnatal onset in some cases. In addition, the proposita had gastroesophageal reflux causing severe anemia. The phenotype of the patients is compared to 41 patients with 10p trisomy reported in the literature. 37 refs., 4 figs., 3 tabs.

  1. Measurement of inclusive jet cross-sections in deep-inelastic ep scattering at HERA

    NASA Astrophysics Data System (ADS)

    Adloff, C.; Andreev, V.; Andrieu, B.; Anthonis, T.; Astvatsatourov, A.; Babaev, A.; Bähr, J.; Baranov, P.; Barrelet, E.; Bartel, W.; Baumgartner, S.; Becker, J.; Beckingham, M.; Beglarian, A.; Behnke, O.; Beier, C.; Belousov, A.; Berger, Ch.; Berndt, T.; Bizot, J. C.; Böhme, J.; Boudry, V.; Braunschweig, W.; Brisson, V.; Bröker, H.-B.; Brown, D. P.; Brückner, W.; Bruncko, D.; Büsser, F. W.; Bunyatyan, A.; Burrage, A.; Buschhorn, G.; Bystritskaya, L.; Campbell, A. J.; Carli, T.; Caron, S.; Cassol-Brunner, F.; Clarke, D.; Collard, C.; Contreras, J. G.; Coppens, Y. R.; Coughlan, J. A.; Cousinou, M.-C.; Cox, B. E.; Cozzika, G.; Cvach, J.; Dainton, J. B.; Dau, W. D.; Daum, K.; Davidsson, M.; Delcourt, B.; Delerue, N.; Demirchyan, R.; De Roeck, A.; De Wolf, E. A.; Diaconu, C.; Dingfelder, J.; Dixon, P.; Dodonov, V.; Dowell, J. D.; Droutskoi, A.; Dubak, A.; Duprel, C.; Eckerlin, G.; Eckstein, D.; Efremenko, V.; Egli, S.; Eichler, R.; Eisele, F.; Eisenhandler, E.; Ellerbrock, M.; Elsen, E.; Erdmann, M.; Erdmann, W.; Faulkner, P. J. W.; Favart, L.; Fedotov, A.; Felst, R.; Ferencei, J.; Ferron, S.; Fleischer, M.; Fleischmann, P.; Fleming, Y. H.; Flügge, G.; Fomenko, A.; Foresti, I.; Formánek, J.; Franke, G.; Frising, G.; Gabathuler, E.; Gabathuler, K.; Garvey, J.; Gassner, J.; Gayler, J.; Gerhards, R.; Gerlich, C.; Ghazaryan, S.; Goerlich, L.; Gogitidze, N.; Grab, C.; Grabski, V.; Grässler, H.; Greenshaw, T.; Grindhammer, G.; Hadig, T.; Haidt, D.; Hajduk, L.; Haller, J.; Haynes, W. J.; Heinemann, B.; Heinzelmann, G.; Henderson, R. C. W.; Hengstmann, S.; Henschel, H.; Heremans, R.; Herrera, G.; Herynek, I.; Hildebrandt, M.; Hilgers, M.; Hiller, K. H.; Hladký, J.; Höting, P.; Hoffmann, D.; Horisberger, R.; Hovhannisyan, A.; Hurling, S.; Ibbotson, M.; İşsever, Ç.; Jacquet, M.; Jaffre, M.; Janauschek, L.; Janssen, X.; Jemanov, V.; Jönsson, L.; Johnson, C.; Johnson, D. P.; Jones, M. A. S.; Jung, H.; Kant, D.; Kapichine, M.; Karlsson, M.; Karschnick, O.; Keil, F.; Keller, N.; Kennedy, J.; Kenyon, I. R.; Kermiche, S.; Kiesling, C.; Kjellberg, P.; Klein, M.; Kleinwort, C.; Kluge, T.; Knies, G.; Koblitz, B.; Kolya, S. D.; Korbel, V.; Kostka, P.; Kotelnikov, S. K.; Koutouev, R.; Koutov, A.; Kroseberg, J.; Krüger, K.; Kuhr, T.; Kurča, T.; Lamb, D.; Landon, M. P. J.; Lange, W.; Laštovička, T.; Laycock, P.; Lebailly, E.; Lebedev, A.; Leißner, B.; Lemrani, R.; Lendermann, V.; Levonian, S.; Lindstroem, M.; List, B.; Lobodzinska, E.; Lobodzinski, B.; Loginov, A.; Loktionova, N.; Lubimov, V.; Lüders, S.; Lüke, D.; Lytkin, L.; Malden, N.; Malinovski, E.; Malinovski, I.; Mangano, S.; Maraček, R.; Marage, P.; Marks, J.; Marshall, R.; Martyn, H.-U.; Martyniak, J.; Maxfield, S. J.; Meer, D.; Mehta, A.; Meier, K.; Meyer, A. B.; Meyer, H.; Meyer, J.; Meyer, P.-O.; Mikocki, S.; Milstead, D.; Mohrdieck, S.; Mondragon, M. N.; Moreau, F.; Morozov, A.; Morris, J. V.; Müller, K.; Murín, P.; Nagovizin, V.; Naroska, B.; Naumann, J.; Naumann, Th.; Nellen, G.; Newman, P. R.; Niebergall, F.; Niebuhr, C.; Nix, O.; Nowak, G.; Olsson, J. E.; Ozerov, D.; Panassik, V.; Pascaud, C.; Patel, G. D.; Peez, M.; Perez, E.; Petrukhin, A.; Phillips, J. P.; Pitzl, D.; Pöschl, R.; Potachnikova, I.; Povh, B.; Rädel, G.; Rauschenberger, J.; Reimer, P.; Reisert, B.; Risler, C.; Rizvi, E.; Robmann, P.; Roosen, R.; Rostovtsev, A.; Rusakov, S.; Rybicki, K.; Sankey, D. P. C.; Schätzel, S.; Scheins, J.; Schilling, F.-P.; Schleper, P.; Schmidt, D.; Schmidt, D.; Schmidt, S.; Schmitt, S.; Schneider, M.; Schoeffel, L.; Schöning, A.; Schörner-Sadenius, T.; Schröder, V.; Schultz-Coulon, H.-C.; Schwanenberger, C.; Sedlák, K.; Sefkow, F.; Shekelyan, V.; Sheviakov, I.; Shtarkov, L. N.; Sirois, Y.; Sloan, T.; Smirnov, P.; Soloviev, Y.; South, D.; Spaskov, V.; Specka, A.; Spitzer, H.; Stamen, R.; Stella, B.; Stiewe, J.; Strauch, I.; Straumann, U.; Swart, M.; Tchetchelnitski, S.; Thompson, G.; Thompson, P. D.; Tomasz, F.; Traynor, D.; Truöl, P.; Tsipolitis, G.; Tsurin, I.; Turnau, J.; Turney, J. E.; Tzamariudaki, E.; Udluft, S.; Uraev, A.; Urban, M.; Usik, A.; Valkár, S.; Valkárová, A.; Vallée, C.; Van Mechelen, P.; Vassiliev, S.; Vazdik, Y.; Vest, A.; Vichnevski, A.; Wacker, K.; Wagner, J.; Wallny, R.; Waugh, B.; Weber, G.; Wegener, D.; Werner, C.; Werner, N.; Wessels, M.; White, G.; Wiesand, S.; Wilksen, T.; Winde, M.; Winter, G.-G.; Wissing, Ch.; Wobisch, M.; Woehrling, E.-E.; Wünsch, E.; Wyatt, A. C.; Žáček, J.; Zálešák, J.; Zhang, Z.; Zhokin, A.; Zomer, F.; zur Nedden, M.; H1 Collaboration

    2002-08-01

    A measurement of inclusive jet cross-sections in deep-inelastic ep scattering at HERA is presented based on data with an integrated luminosity of 21.1 pb -1. The measurement is performed for photon virtualities Q2 between 5 and 100 GeV 2, differentially in Q2, in the jet transverse energy ET, in ET2/ Q2 and in the pseudorapidity ηlab. With the renormalization scale μR= ET, perturbative QCD calculations in next-to-leading order (NLO) give a good description of the data in most of the phase space. Significant discrepancies are observed only for jets in the proton beam direction with ET below 20 GeV and Q2 below 20 GeV 2. This corresponds to the region in which NLO corrections are largest and further improvement of the calculations is thus of particular interest.

  2. A measurement of {alpha}{sub s}(Q{sup 2}) from the Gross Llewellyn Smith sum rule

    SciTech Connect

    Harris, D.A.; Auchincloss, P.; Arroyo, C.G.

    1995-06-01

    The Gross Llewellyn Smith sum rule has been measured at different values of four-momentum transfer squared (Q{sup 2}) by combining the precise CCFR neutrino data with data from other deep-inelastic scattering experiments at lower values of Q{sup 2}. A comparison with the {Omicron} ({alpha}{sub s}{sup 3}) predictions of perturbative QCD yields a determination of {alpha}{sub s} and its dependence on Q{sup 2} in the range 1GeV{sup 2} < Q{sup 2} < 20 GeV{sup 2}. Low Q{sup 2} tests have greater sensitivity to {alpha}{sub s} (M{sub Z}{sup 2}) than high Q{sup 2} tests, since at low Q{sup 2} {alpha}{sub s} is large and changing rapidly.

  3. Deeply Virtual Compton Scattering on the Proton

    NASA Astrophysics Data System (ADS)

    Hirlinger Saylor, Nicholas; JLab, CLAS Collaboration

    2013-10-01

    DVCS on the proton was measured at Jefferson Lab with CLAS at Hall B with a polarized 5.88 GeV electron beam on an unpolarized hydrogen target. A preliminary measurement of unpolarized and polarized cross sections was made over wide kinematics, from 1GeV2 <Q2 < 5GeV2 , 0 . 1

  4. Recombinant chromosome 14 due to maternal pericentric inversion.

    PubMed

    Sliuzas, Vytautas; Utkus, Algirdas; Kucinskas, Vaidutis

    2008-01-01

    Chromosome 14 is often involved in various chromosome rearrangements, most of them balanced. Human chromosome 14 is acrocentric, so its pericentric inversions are extremely rare (only few cases have been described in the literature). Here we report on a boy with congenital malformations and recombinant chromosome 14 inherited from his mother carrying a pericentric inversion. The proband's G-banded chromosome analysis revealed derivative chromosome 14. Comparative genomic hybridization analysis identified duplication of the terminal part of chromosome 14q ish cgh dup(14)(q32.1qter). This abnormality has been confirmed by custom BAC FISH analysis. His mother's karyotype was 46,XX,inv(14)(p11.2q32.1). PMID:18436995

  5. Nuclear medium effects in structure functions of nucleon at moderate Q2

    NASA Astrophysics Data System (ADS)

    Haider, H.; Zaidi, F.; Sajjad Athar, M.; Singh, S. K.; Ruiz Simo, I.

    2015-11-01

    Recent experiments performed on inclusive electron scattering from nuclear targets have measured the nucleon electromagnetic structure functions F1 (x, Q2), F2 (x, Q2) and FL (x, Q2) in 12C, 27Al, 56Fe and 64Cu nuclei. The measurements have been done in the energy region of 1 GeV2 2 <Q2 < 4 .5 GeV2. We have calculated nuclear medium effects in these structure functions arising due to the Fermi motion, binding energy, nucleon correlations, mesonic contributions from pion and rho mesons and shadowing effects. The calculations are performed in a local density approximation using a relativistic nucleon spectral function which includes nucleon correlations. The numerical results are compared with the recent experimental data from JLab and also with some earlier experiments.

  6. High quality thin films of thermoelectric misfit cobalt oxides prepared by a chemical solution method

    NASA Astrophysics Data System (ADS)

    Rivas-Murias, Beatriz; Manuel Vila-Fungueiriño, José; Rivadulla, Francisco

    2015-07-01

    Misfit cobaltates ([Bi/Ba/Sr/Ca/CoO]nRS[CoO2]q) constitute the most promising family of thermoelectric oxides for high temperature energy harvesting. However, their complex structure and chemical composition makes extremely challenging their deposition by high-vacuum physical techniques. Therefore, many of them have not been prepared as thin films until now. Here we report the synthesis of high-quality epitaxial thin films of the most representative members of this family of compounds by a water-based chemical solution deposition method. The films show an exceptional crystalline quality, with an electrical conductivity and thermopower comparable to single crystals. These properties are linked to the epitaxial matching of the rock-salt layers of the structure to the substrate, producing clean interfaces free of amorphous phases. This is an important step forward for the integration of these materials with complementary n-type thermoelectric oxides in multilayer nanostructures.

  7. Double-quantum homonuclear rotary resonance: Efficient dipolar recovery in magic-angle spinning nuclear magnetic resonance

    NASA Astrophysics Data System (ADS)

    Nielsen, N. C.; Bildsøe, H.; Jakobsen, H. J.; Levitt, M. H.

    1994-08-01

    We describe an efficient method for the recovery of homonuclear dipole-dipole interactions in magic-angle spinning NMR. Double-quantum homonuclear rotary resonance (2Q-HORROR) is established by fulfilling the condition ωr=2ω1, where ωr is the sample rotation frequency and ω1 is the nutation frequency around an applied resonant radio frequency (rf) field. This resonance can be used for double-quantum filtering and measurement of homonuclear dipolar interactions in the presence of magic-angle spinning. The spin dynamics depend only weakly on crystallite orientation allowing good performance for powder samples. Chemical shift effects are suppressed to zeroth order. The method is demonstrated for singly and doubly 13C labeled L-alanine.

  8. A YAC contig encompassing the XRCC5 (Ku80) DNA repair gene and complementation of defective cells by YAC protoplast fusion

    SciTech Connect

    Blunt, T.; Priestley, A.; Hafezparast, M.; McMillan, T.

    1995-11-20

    The Chinese hamster ovary xrs mutants are sensitive to ionizing radiation, defective in DNA double-strand break rejoining, and unable to carry out V(D)J recombination effectively. Recently, the gene defective in these mutants, XRCC5, has been shown to encode Ku80, a component of the Ku protein and DNA-dependent protein kinase. We present here a YAC contig involving 25 YACs mapping to the region 2q33-q34, which encompasses the XRCC5 gene. Eight new markers for this region of chromosome 2 are identified. YACs encoding the Ku80 gene were transferred to xrs cells by protoplast fusion, and complementation of all the defective phenotypes has been obtained with two YACs. We discuss the advantages and disadvantages of this approach as a strategy for cloning human genes complementing defective rodent cell lines. 44 refs., 2 figs., 4 tabs.

  9. 980-nm Q-switched photonic crystal fiber laser by MoS2 saturable absorber

    NASA Astrophysics Data System (ADS)

    Li, Pingxue; Liang, Boxing; Su, Meng; Zhang, Yuefei; Zhao, Yan; Zhang, Mengmeng; Ma, Chunmei; Su, Ning

    2016-05-01

    We demonstrate a 980-nm Q-switch Yb-doped photonic crystal fiber laser by a multilayer molybdenum sulfide polymer composite as the broadband saturable absorber which is prepared by the chemical vapor deposition method. We achieve passively Q-switching operations at 978 nm with the pulse width of 2.7 and 0.63 μs, corresponding to the repetition rate of 212 and 221 kHz, respectively. The maximum output power is 127 mW. It is the first time that MoS2 Q-switched Yb-doped photonic crystal fiber laser at 980 nm is demonstrated. The experimental results show that few-layer MoS2 is a promising broadband saturable absorber material.

  10. An Autoinflammatory Disease Due to Homozygous Deletion of the IL1RN Locus

    PubMed Central

    Reddy, Sreelatha; Jia, Shuang; Geoffrey, Rhonda; Lorier, Rachel; Suchi, Mariko; Broeckel, Ulrich; Hessner, Martin J.; Verbsky, James

    2009-01-01

    SUMMARY We describe a patient with an autoinflammatory disease in which the main clinical features are pustular rash, marked osteopenia, lytic bone lesions, respiratory insufficiency, and thrombosis. Genetic studies revealed a 175-kb homozygous deletion at chromosome 2q13, which encompasses several interleukin-1 family members, including the gene encoding the interleukin-1–receptor antagonist (IL1RN). Mononuclear cells, obtained from the patient and cultured, produced large amounts of inflammatory cytokines, with increasing amounts secreted after stimulation with lipopolysaccharide. A similar increase was not observed in peripheral-blood mononuclear cells from a patient with neonatal-onset multisystem inflammatory disorder (NOMID). Treatment with anakinra completely resolved the symptoms and lesions. PMID:19494219

  11. Utility advanced turbine systems (ATS) technology readiness testing and pre-commercial demonstration. Quarterly report, April 1--June 30, 1997

    SciTech Connect

    1997-12-31

    The overall objective of the Advanced Turbine System (ATS) Phase 3 Cooperative Agreement between GE and the US Department of Energy (DOE) is the development of the GE 7H and 9H combined cycle power systems. The major effort will be expended on detail design. Validation of critical components and technologies will be performed including: hot gas path component testing, sub-scale compressor testing, steam purity test trials, and rotational heat transfer confirmation testing. Processes will be developed to support the manufacture of the first system, which will be sited and operated in Phase 4. Technology enhancements that are not required for the first machine design but will be critical for future ATS advances in performance, reliability, and costs will be initiated. Long-term tests of materials to confirm design life predictions will continue. A schematic of the GE H machine is shown. This report summarizes work accomplished in 2Q97.

  12. Pentaquarks: Facts and Puzzles

    SciTech Connect

    Narodetskii, I.M.

    2005-05-01

    On the occasion of the celebration of the 70th birthday of Prof. Yu.A. Simonov, we contribute a brief review of the status of exotic baryons, which are most likely pentaquark states. We summarize the experimental status of exotic baryons, discuss the baryon antidecuplet to which exotic baryons possibly belong, and review theoretical expectations for the masses and widths of recently discovered {theta} and {xi}{sub 3/2} baryons which have come from studies of QCD sum rules, lattice QCD, and quark models. We also pay special attention to the dynamical calculation of pentaquark masses in a framework of the QCD string approach originally elaborated by Simonov for baryons and using the Jaffe-Wilczek [ud]{sup 2}q-bar approximation for the pentaquark states.

  13. Some nitrogen-14 NMR studies in solids

    SciTech Connect

    Pratum, T.K.

    1983-11-01

    The first order quadrupolar perturbation of the /sup 14/N NMR spectrum yields information regarding the static and dynamic properties of the surrounding electronic environment. Signal to noise problems caused by long /sup 14/N longitudinal relaxation times (T/sub 1/) and small equilibrium polarizations are reduced by rotating frame cross polarization (CP) experiments between /sup 14/N and /sup 1/H. Using quadrupolar echo and CP techniques, the /sup 14/N quadrupolar coupling constants (e/sup 2/qQ/h) and asymmetry parameters (eta) have been obtained for a variety of tetraalkylammonium compounds by observation of their quadrupolar powder patterns at various temperatures. For choline chloride and iodide the /sup 14/N NMR powder patterns exhibit the effects of anisotropic molecular motion, while choline bromide spectra show no such effects.

  14. Comparison of strategies for identification of regulatory quantitative trait loci of transcript expression traits.

    PubMed

    Franceschini, Nora; Wojczynski, Mary K; Göring, Harald H H; Peralta, Juan Manuel; Dyer, Thomas D; Li, Xia; Li, Hao; North, Kari E

    2007-01-01

    In order to identify regulatory genes, we determined the heritability of gene transcripts, performed linkage analysis to identify quantitative trait loci (QTLs), and evaluated the evidence for shared genetic effects among transcripts with co-localized QTLs in non-diseased participants from 14 CEPH (Centre d'Etude du Polymorphisme Humain) Utah families. Seventy-six percent of transcripts had a significant heritability and 54% of them had LOD score >or= 1.8. Bivariate genetic analysis of 15 transcripts that had co-localized QTLs on 4q28.2-q31.1 identified significant genetic correlation among some transcripts although no improvement in the magnitude of LOD scores in this region was noted. Similar results were found in analysis of 12 transcripts, that had co-localized QTLs in the 13q34 region. Principal-component analyses did not improve the ability to identify chromosomal regions of co-localized gene expressions. PMID:18466588

  15. Comparison of strategies for identification of regulatory quantitative trait loci of transcript expression traits

    PubMed Central

    Franceschini, Nora; Wojczynski, Mary K; Göring, Harald HH; Peralta, Juan Manuel; Dyer, Thomas D; Li, Xia; Li, Hao; North, Kari E

    2007-01-01

    In order to identify regulatory genes, we determined the heritability of gene transcripts, performed linkage analysis to identify quantitative trait loci (QTLs), and evaluated the evidence for shared genetic effects among transcripts with co-localized QTLs in non-diseased participants from 14 CEPH (Centre d'Etude du Polymorphisme Humain) Utah families. Seventy-six percent of transcripts had a significant heritability and 54% of them had LOD score ≥ 1.8. Bivariate genetic analysis of 15 transcripts that had co-localized QTLs on 4q28.2-q31.1 identified significant genetic correlation among some transcripts although no improvement in the magnitude of LOD scores in this region was noted. Similar results were found in analysis of 12 transcripts, that had co-localized QTLs in the 13q34 region. Principal-component analyses did not improve the ability to identify chromosomal regions of co-localized gene expressions. PMID:18466588

  16. Nonlinear band gap transmission in optical waveguide arrays.

    PubMed

    Khomeriki, Ramaz

    2004-02-13

    The effect of nonlinear transmission in coupled optical waveguide arrays is theoretically investigated and a realistic experimental setup is suggested. The beam is injected in a single boundary waveguide, linear refractive index of which (n(0)) is larger than refractive indexes (n) of other identical waveguides in the array. Particularly, the effect holds if omega(n(0)-n)/c>2Q, where Q is a linear coupling constant between array waveguides, omega is a carrier wave frequency, and c is a light velocity. Numerical experiments show that the energy transfers from the boundary waveguide to the waveguide array above a certain threshold intensity of the injected beam. This effect is due to the creation and the propagation of gap solitons in full analogy with a similar phenomenon in sine-Gordon lattice [Phys. Rev. Lett. 89, 134102 (2002)

  17. Signs of divided differences yield least squares data fitting with constrained monotonicity or convexity

    NASA Astrophysics Data System (ADS)

    Demetriou, I. C.

    2002-09-01

    Methods are presented for least squares data smoothing by using the signs of divided differences of the smoothed values. Professor M.J.D. Powell initiated the subject in the early 1980s and since then, theory, algorithms and FORTRAN software make it applicable to several disciplines in various ways. Let us consider n data measurements of a univariate function which have been altered by random errors. Then it is usual for the divided differences of the measurements to show sign alterations, which are probably due to data errors. We make the least sum of squares change to the measurements, by requiring the sequence of divided differences of order m to have at most q sign changes for some prescribed integer q. The positions of the sign changes are integer variables of the optimization calculation, which implies a combinatorial problem whose solution can require about O(nq) quadratic programming calculations in n variables and n-m constraints. Suitable methods have been developed for the following cases. It has been found that a dynamic programming procedure can calculate the global minimum for the important cases of piecewise monotonicity m=1,q[greater-or-equal, slanted]1 and piecewise convexity/concavity m=2,q[greater-or-equal, slanted]1 of the smoothed values. The complexity of the procedure in the case of m=1 is O(n2+qn log2 n) computer operations, while it is reduced to only O(n) when q=0 (monotonicity) and q=1 (increasing/decreasing monotonicity). The case m=2,q[greater-or-equal, slanted]1 requires O(qn2) computer operations and n2 quadratic programming calculations, which is reduced to one and n-2 quadratic programming calculations when m=2,q=0, i.e. convexity, and m=2,q=1, i.e. convexity/concavity, respectively. Unfortunately, the technique that receives this efficiency cannot generalize for the highly nonlinear case m[greater-or-equal, slanted]3,q[greater-or-equal, slanted]2. However, the case m[greater-or-equal, slanted]3,q=0 is solved by a special strictly

  18. A simplification of the Kovarik formula

    NASA Astrophysics Data System (ADS)

    Chen, Yan-Ni; Du, Hong-Ke; Pang, Yong-Feng

    2007-07-01

    Let P,Q be two idempotents on a Hilbert space. Z.V. Kovarik (Z.V. Kovarik, Similarity and interpolation between projectors, Acta Sci. Math. (Szeged) 39 (1977) 341-351) showed that when P+Q-I is invertible, the formula K(P,Q)=P(P+Q-I)-2Q gives the only idempotent such that , , where and denote the nullspace and the range of a bounded linear operator T on a Hilbert space, respectively. This formula was later extended to the context of Banach algebras and used in 1983 by J. Esterle to show that two homotopic idempotents may always be connected by a polynomial idempotent valued path. In the present paper, we give a simplification of Kovarik's original formula and one natural generalization of it.

  19. Conical intersections between X2A1 and A2B2 electronic states of NO

    NASA Astrophysics Data System (ADS)

    Sardar, Subhankar; Mukherjee, Saikat; Paul, Amit Kumar; Adhikari, Satrajit

    2013-04-01

    We explore both the general symmetry-allowed accidental (SAA) conical intersections (CIs) and Renner-Teller (RT) interactions prevailed between the ground (X2A1) and first excited (A2B2) electronic states of NO in the configuration space of normal mode coordinates. Global ab initio potential-energy surfaces and Non Adiabatic Coupling Term (NACT) between those states are reported. For each of the three pairs of normal mode (Q1,Q2,Q3), calculated NACT show singularity at different positions, which are used to calculate Adiabatic-to-Diabatic Transformation (ADT) angles and thereby, the diagonal elements of ADT matrix display (i) sign change for odd number of SAA CI (s) and (ii) no sign change for even number of SAA CIs as well as Renner-Teller interactions. Similar to Jahn-Teller CI, the existence of SAA CIs are, further, confirmed by Longuet-Higgins' phase change.

  20. A note for Riesz transforms associated with Schrödinger operators on the Heisenberg Group

    NASA Astrophysics Data System (ADS)

    Liu, Yu; Tang, Guobin

    2016-03-01

    Let {{H}^n} be the Heisenberg group and Q=2n+2 be its homogeneous dimension. The Schrödinger operator is denoted by - {Δ _{{{H}^n}}} + V , where {Δ _{{{H}^n}}} is the sub-Laplacian and the nonnegative potential V belongs to the reverse Hölder class {B_{{q_1}}} for {q_1} ≥ Q/2 . Let H^p_L({H}^n) be the Hardy space associated with the Schrödinger operator for Q/Q+δ _02-Q/q_1} . In this note we show that the operators {T_1} = V{( - {Δ _{{{H}^n}}} + V)^{ - 1}} and {T_2} = {V^{1/2}}{( - {Δ _{{{H}^n}}} + V)^{ - 1/2}} are bounded from H_L^p({{H}^n}) into {L^p}({{H}^n}) . Our results are also valid on the stratified Lie group.

  1. Chiral anomaly and the BaBar and Belle measurements of the γγ*-->π0 transition form factor

    NASA Astrophysics Data System (ADS)

    Pham, T. N.

    2012-10-01

    The recent BaBar measurements of the γγ*→π0 transition form factor show spectacular deviation from perturbative QCD prediction for large space-like Q2 up to 34GeV2. In this talk, I would like to discuss a recent work on the chiral anomaly effects in the γγ*→π0 transition form factor F(Q2) at large momentum squared Q2. Using PCAC and the Adler-Bell-Jackiw chiral anomaly triangle graph, we find that, F(Q2) at large Q2 behaves as (m2/Q2)×(ln(Q2/m2))2 and is in striking agreement with the BaBar data with m = 135MeV which also reproduces very well the CLEO data at lower Q2. The new Belle measurements could also be fitted with m = 120MeV.

  2. A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.

    PubMed

    Kilic, Esra; Cetinkaya, Arda; Utine, Gülen Eda; Boduroğlu, Koray

    2016-06-01

    Mowat-Wilson syndrome is a multiple congenital anomaly and intellectual disability syndrome characterized by a unique face and various other structural and functional anomalies. The condition is caused by de novo heterozygous mutations or deletions in ZEB2 gene located at 2q22. ZEB2 encodes Sip1 protein, which acts during central nervous system development as an important transcription factor. Herein, we report on 3 novel mutations in 6 patients with the syndrome, with an overview of corresponding clinical findings. Growth retardation and Hirschsprung disease were less common in the present cohort. One patient with a novel mutation p.Y489X had no associated anomalies except the characteristic facial and neurobehavioral phenotype. Reporting new patients with novel mutations would contribute to better delineation of the syndrome and would help clinicians establish formal diagnostic criteria and genotype-phenotype correlations. PMID:26809768

  3. Simple Beam-Optic Simulations and Proposed Mechanical Mitigation for the Triplet Oscillation Problem

    SciTech Connect

    Thieberger,P.; Montag, C.; Snydstrup, L.; Trbojevic, D.; Tuozzolo, J.

    2008-05-01

    The purpose of these simulations is to gain a better understanding of the relative contributions to the beam perturbation from the main horizontal oscillation modes (yawing and rolling) of Q1, Q2, and Q3. For this purpose, a simple beam transport program was implemented with an EXCEL spreadsheet to calculate the horizontal beam envelop through the Q1, Q2, Q3 triplet up to the IP, with the possibility of specifying horizontal displacements of the singlets. For now, the weak focusing properties of D0 and DX have been ignored, but could easily be included in the future if necessary. In a first simulation, quadrupole strengths have been adopted that correspond to {beta}* = 2m at the IP. The parameters used listed in Table 1 were obtained from references [1] and [2].

  4. Work and efficiency of quantum Otto cycles in power-law trapping potentials.

    PubMed

    Zheng, Yuanjian; Poletti, Dario

    2014-07-01

    We study the performance of a quantum Otto cycle operating in trapping potentials of different shapes. We show that, while both the mean work output and the efficiency of two Otto cycles in different trapping potentials can be made equal, the work probability distribution will still be strongly affected by the difference in structure of the energy levels. To exemplify our results, we study the family of potentials of the form V(t)(x) ∼ x(2q). This family of potentials possesses a simple scaling property that allows for analytical insights into the efficiency and work output of the cycle. We perform a comparison of quantum Otto cycles in various physically relevant scenarios and find that in certain instances, the efficiency of the cycle is greater when using potentials with larger values of q, while in other cases, the efficiency is greater with harmonic traps. PMID:25122289

  5. Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1.

    PubMed

    Nogueira, P K; Vuong, T S; Bouton, O; Maillard, A; Marchand, M; Rolland, M O; Cochat, P; Bozon, D

    2000-04-01

    Primary hyperoxaluria type 1 (PH1) is a rare autosomal (2q37.3) recessive metabolic disease caused by a deficiency of the hepatic peroxisomal enzyme alanine:glyoxylate amino transferase. Molecular heterogeneity is important in PH1 as most of the patients (if the parents are unrelated) are compound heterozygotes for rare mutations. We describe the first large deletion in the AGXT gene, removing exons 1 to 7 (EX1_EX7del) that was responsible for one case of severe PH1. This 10 kb deletion was identified by Southern blotting of genomic DNA digested by Xba I and hybridized with different exonic probes. Both parents (from Turkey) are first cousin and carry the deletion. It is of note that the presently reported patient did not exhibit any AGT catalytic activity and even so, he progressed towards end-stage renal disease only at 19 years old. PMID:10737993

  6. Effect of non-ohmic contacts on the light-intensity dependence of the open-circuit voltage in organic solar cells

    NASA Astrophysics Data System (ADS)

    Solak, S.; Blom, P. W. M.; Wetzelaer, G. A. H.

    2016-08-01

    The effect of contact barriers on the light-intensity dependence of the open-circuit voltage of organic solar cells is investigated in experiments and simulations. Reduced light-intensity dependence is found when the open-circuit voltage surpasses the built-in voltage, leading to a slope of kT/2q for a device with one non-ohmic contact and a slope of zero for a device with two non-ohmic contacts. The reduced light-intensity dependence of the open-circuit voltage is not caused by entering a contact-recombination-limited regime but by the absence of band bending in the vicinity of a non-ohmic contact.

  7. Gene, Stem Cell, and Alternative Therapies for SCA 1.

    PubMed

    Wagner, Jacob L; O'Connor, Deirdre M; Donsante, Anthony; Boulis, Nicholas M

    2016-01-01

    Spinocerebellar ataxia 1 is an autosomal dominant disease characterized by neurodegeneration and motor dysfunction. In disease pathogenesis, polyglutamine expansion within Ataxin-1, a gene involved in transcriptional repression, causes protein nuclear inclusions to form. Most notably, neuronal dysfunction presents in Purkinje cells. However, the effect of mutant Ataxin-1 is not entirely understood. Two mouse models are employed to represent spinocerebellar ataxia 1, a B05 transgenic model that specifically expresses mutant Ataxin-1 in Purkinje cells, and a Sca1 154Q/2Q model that inserts the polyglutamine expansion into the mouse Ataxin-1 locus so that the mutant Ataxin-1 is expressed in all cells that express Ataxin-1. This review aims to summarize and evaluate the wide variety of therapies proposed for spinocerebellar ataxia 1, specifically gene and stem cell therapies. PMID:27570504

  8. A 5 Micron of beta Pictoris B at a Sub-Jupiter Projected Separation: Evidence for a Misalignment Between the Planet and the Inner, Warped Disk

    NASA Technical Reports Server (NTRS)

    Currie, Thayne; Thalmann, Christian; Matsumura, Soko; Madhusudhan, Nikku; Burrows, Adam; Kuchner, Marc

    2011-01-01

    We present and analyze a new M' detection of the young exoplanet Beta Pictoris b from 2008 VLT/NaCo data at a separation of approx. = 4 AU and a high signal-to-noise rereduction of L' data taken in December 2Q09. Based on our orbital analysis, the planet's orbit is viewed almost perfectly edge-on (i approx. 89 degrees) and has a Saturn-like semimajor axis of 9.50AU(+3.93 AU)/-(1.7AU) . Intriguingly, the planet's orbit is aligned with the major axis of the outer disk (Omega approx.31 degrees) but probably misaligned with the warp/inclined disk at 80 AU often cited as a signpost for the planet's existence. Our results motivate new studies to clarify how Beta Pic b sculpts debris disk structures and whether a second planet is required to explain the warp/inclined disk

  9. Measurement Of Differential Cross Sections Of p(e,e'{pi}{sup +})n For High-Lying Resonances At Q{sup 2} < 5 GeV{sup 2}

    SciTech Connect

    Park, Kijun

    2014-01-01

    The exclusive electro-production process ep -> e'n{pi}{sup +} was measured in the range of the invariant mass for n{pi}{sup +} system 1.6 GeV <= W <= 2.0 GeV, and the photon virtuality 1.8 GeV{sup 2} <= Q{sup 2} <= 4.0 GeV{sup 2} using CLAS. For the first time, these kinematics are probed in exclusive {pi}{sup +} production from the protons with nearly full coverage in the azimuthal and polar angles of the n{pi}{sup +} center-of-mass system. In this experiment, approximately 39,000 differential cross-section data points were measured. In this proceeding, preliminary results of our latest analysis work are presented on differential cross sections and structure functions as well as Legendre Moments.

  10. Parity Violation in Deep Inelastic Scattering at JLab 6 GeV

    SciTech Connect

    Xiaochao Zheng

    2006-05-16

    The parity-violating asymmetry in e-$^2$H deep inelastic scattering (DIS) can be used to extract the weak neutral-current coupling constants $C_{2q}$. A measurement of this asymmetry at two $Q^2$ values is planned at Jefferson Lab. Results from this experiment will provide a value of $2C_{2u}-C_{2d}$ to a precision of $\\pm 0.03$, a factor of eight improvement over our current knowledge. If all hadronic effects can be understood, this results will provide information on possible extensions of the Standard Model, complementary to other experiments dedicated to new physics searches. Presented here are the physics motivation, experimental setup, potential hadronic effects and their implications, and the future of PV DIS at Jefferson Lab.

  11. The interfacial properties of AOF/ZnS and LWIR bulk HgCdTe materials by MIS structures

    NASA Astrophysics Data System (ADS)

    Wang, Nili; Liu, Shijia; Lan, Tianyi; Zhao, Shuiping; Jiang, Peilu; Li, Xiangyang

    2012-10-01

    The semiconductor-passivating layer interface, as well as the dielectric properties of the passivants, plays an important role in HgCdTe based photoelectric detectors. Anodization is a commonly uses surface passivation for HgCdTe. ZnS is deposited on the AOF (anodic-oxide film) as antireflecting layer. The interfacial properties of the metal insulator semiconductor (MIS) structures were determined by capacitance-voltage (C-V) measurements in the frequency range 10 KHz-10 MHz. The results showed that the MIS detector could not reach the high frequency level even at frequencies up to 10 MHz. The interfacial state densities were 3.4×1011 cm-2q-1V-1 and the fixed charges were 1.1×1012 cm-2. The surface recombination velocity was 700 cm/s.

  12. Precision Hyperfine Structure of 2;^3P State of ^3He with External Magnetic

    NASA Astrophysics Data System (ADS)

    Wu, Qixue; Drake, G. W. F.

    2007-06-01

    The theory of the Zeeman effect can be used to extrapolate precise measurements for the fine structure or the hyperfine structure to zero-field strength. In the present work, the hyperfine structure of 2;^3P state of ^3He with external magnetic fields is precisely calculated. The values of the fields for 32 crossings and five anticrossings of the magnetic sublevels are theoretically predicted for magnetic field strengths up to 1 Tesla. The results are compared with experimental work. We include the linear terms, diamagnetic terms, and the 2̂ relativistic correction terms in the Zeeman Hamiltonian. All related matrix elements are calculated with high accuracy by the use of double basis set Hylleraas type variational wave functions[1,2].[1] Z. -C. Yan and G.W.F. Drake, Phys. Rev. A 50, R1980 (1994).[2] Q. Wu and G.W.F. Drake, J. Phys. B 40, 393 (2007).

  13. Lattice Boltzmann technique for heat transport phenomena coupled with melting process

    NASA Astrophysics Data System (ADS)

    Ibrahem, A. M.; El-Amin, M. F.; Mohammadein, A. A.; Gorla, Rama Subba Reddy

    2016-04-01

    In this work, the heat transport phenomena coupled with melting process are studied by using the enthalpy-based lattice Boltzmann method (LBM). The proposed model is a modified version of thermal LB model, where could avoid iteration steps and ensures high accuracy. The Bhatnagar-Gross-Krook (BGK) approximation with a D1Q2 lattice was used to determine the temperature field for one-dimensional melting by conduction and multi-distribution functions (MDF) with D2Q9 lattice was used to determine the density, velocity and temperature fields for two-dimensional melting by natural convection. Different boundary conditions including Dirichlet, adiabatic and bounce-back boundary conditions were used. The influence of increasing Rayleigh number (from 103 to 105) on temperature distribution and melting process is studied. The obtained results show that a good agreement with the analytical solution for melting by conduction case and with the benchmark solution for melting by convection.

  14. Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome

    SciTech Connect

    Muenke, M.; Bone, L.J.; Mitchell, H.F.

    1995-11-01

    We set out to define the holoprosencephaly (HPE) critical region on chromosome 21 and also to determine whether there were human homologues of the Drosophila single-minded (sim) gene that might be involved in HPE. Analysis of somatic cell hybrid clones that contained rearranged chromosomes 21 from HPE patients defined the HPE minimal critical region in 21q22.3 as D21S113 to qter. We used established somatic cell hybrid mapping panels to map SIM2 to chromosome 21 within subbands q22.2-q22.3. Analysis of the HPE patient-derived somatic cell hybrids showed that SIM2 is not deleted in two of three patients and thus is not a likely candidate for HPE1, the HPE gene on chromosome 21. However, SIM2 does map within the Down syndrome critical region and thus is a candidate gene that might contribute to the Down syndrome phenotype. 31 refs., 2 figs., 1 tab.

  15. Dominant Driving Force for Protein Folding -- A Result from Analyzing the Statistical Potential

    NASA Astrophysics Data System (ADS)

    Li, Hao; Tang, Chao; Wingreen, Ned

    1997-03-01

    In a statistical approach, the energy of a particular substructure in proteins is related to its number of appearance in the protein structure data bank via a Boltzmann factor. Such knowledge based potentials are widely used in protein structure prediction. A well known example is the inter-residue contact energies between different types of amino acids -- a 20× 20 matrix derived by Miyazawa and Jernigan (MJ). We have analyzed the MJ matrix using the method of eigenvalue decomposition. We find that the MJ matrix can be accurately reconstructed by using only the two largest eigenvalues and the corresponding eigenvectors. The matrix elements can be simply expressed as M_ij=C_0+C_1(q_i+q_j)+C_2q_iq_j, with C's constants, and 20 q values associated with 20 amino acids. We find that this regularity is due to hydrophobic force and a force of demixing, the latter obeying Hildebrand's solubility theory for simple liquids.

  16. Isolation and characterization of the human MRE11 homologue

    SciTech Connect

    Petrini, J.H.J.; Walsh, M.E.; DiMare, C.

    1995-09-01

    Mutation of the Saccharomyces cerevisiae RAD52 epistasis group gene, MRE11, blocks meiotic recombination, confers profound sensitivity to double-strand break damage, and has a hyperrecombinational phenotype in mitotic cells. We isolated a highly conserved human MRE11 homologue using a two-hybrid screen for DNA ligase I-interacting proteins. Human MRE11 shares approximately 50% identity with its yeast counterpart over the N-terminal half of the protein. MRE11 is expressed at the highest levels in proliferating tissues, but is also observed in other tissues. The MRE11 locus maps to human chromosome 11q21 in a region frequently associated with cancer-related chromosomal abnormalities. A MRE11-related locus was found on chromosome 7q11.2-q11.3. 60 refs., 4 figs.

  17. Lactose intolerance and other disaccharidase deficiency.

    PubMed

    Tomar, Balvir S

    2014-09-01

    Intolerance to foods which contain lactose can cause a range of intestinal and systemic symptoms. These symptoms are caused by Lactase deficiency which is encoded by a single gene (LCT) of ≈ 50 kb located on chromosome 2q21. In some food items, lactose has been missed because of "hidden" lactose due to inadequately labeled, confusing diagnosis of lactose intolerance based on dietary restriction of dairy foods. Two polymorphisms, C/T13910 and G/A22018, linked to hypolactasia, correlate with breath hydrogen and symptoms after lactose. The key in the management of lactose intolerance is the dietary removal of lactose. Patients diagnosed as lactose intolerant must be advised of "risk" foods, inadequately labeled, including processed meats, bread, cake mixes, soft drinks, and lagers. This review highlights the types, symptoms and management of lactose intolerance and also highlights differences from milk allergy which closely mimics the symptoms of lactose intolerance. PMID:24596060

  18. Rigid motions: Action-angles, relative cohomology and polynomials with roots on the unit circle

    NASA Astrophysics Data System (ADS)

    Françoise, J.-P.; Garrido, P. L.; Gallavotti, G.

    2013-03-01

    Revisiting canonical integration of the classical solid near a hyperbolic or elliptic uniform rotation, normal canonical coordinates p, q are constructed so that the Hamiltonian becomes a function ("normal form") of x+ = pq or of x- = p2 + q2: the two cases are treated simultaneously distinguishing them, respectively, by a label a = ±, in terms of various power series with coefficients which are shown to be polynomials in a variable r^2_a depending on the inertia moments. The normal forms are derived via the analysis of a relative cohomology problem and shown to be obtainable without reference to the construction of the normal coordinates via elliptic integrals (unlike the derivation of the normal coordinates p, q). Results and conjectures also emerge about the properties of the above polynomials and the location of their roots. In particular a class of polynomials with all roots on the unit circle arises.

  19. Scaling in tournaments

    NASA Astrophysics Data System (ADS)

    Ben-Naim, E.; Redner, S.; Vazquez, F.

    2007-02-01

    We study a stochastic process that mimics single-game elimination tournaments. In our model, the outcome of each match is stochastic: the weaker player wins with upset probability q<=1/2, and the stronger player wins with probability 1-q. The loser is eliminated. Extremal statistics of the initial distribution of player strengths governs the tournament outcome. For a uniform initial distribution of strengths, the rank of the winner, x*, decays algebraically with the number of players, N, as x*~N-β. Different decay exponents are found analytically for sequential dynamics, βseq=1-2q, and parallel dynamics, \\beta_par=1+\\frac{\\ln (1-q)}{\\ln 2} . The distribution of player strengths becomes self-similar in the long time limit with an algebraic tail. Our theory successfully describes statistics of the US college basketball national championship tournament.

  20. Wetting on rough self-affine surfaces

    NASA Astrophysics Data System (ADS)

    Palasantzas, George

    1995-05-01

    In this paper, we present a general investigation of the effective potential for complete wetting on self-affine rough surfaces. The roughness effect is investigated by means of the height-height correlation model in Fourier space ~(1+aξ2q2)-1-H. The parameters H and ξ are, respectively, the roughness exponent and the substrate in-plane correlation length. It is observed that the effect of H on the free interface profile is significant for ξ>ξ) regime is characterized by a power-law scaling ~Y-2.

  1. Lattice Boltzmann simulations of lymphatic pumping

    NASA Astrophysics Data System (ADS)

    Kunert, Christian; Padera, Tim P.; Munn, Lance L.

    2012-02-01

    Lymphatic flow plays an important role in the progress of many diseases, including lymphedema and metastasis. However lymphatic pumping and flow is poorly understood. Here, we present a computer model that is based on biological observations of lymphatic pumping. Fluid flow is simulated by a D2Q9 lattice Boltzmann model. The boundary of the vessels moves according to shear-induced nitric oxide production, and wall motion transfers momentum to the fluid to induce flow. Because the model only includes local properties, it can be highly parallelized. In our case we utilize graphic processors (GPU) to achieve high performance computation. We show that the model provides stable pumping over a wide range of parameter values, with optimum flow achieved in the biological ranges. Furthermore, we investigate the efficiency by analyzing the flow rate and pumping frequency in order to compare the behavior of the model with existing in vivo data.

  2. Theory of electronic structure and nuclear quadrupole interactions in the BF3-NH3 complex and methyl derivatives

    NASA Astrophysics Data System (ADS)

    Pink, R. H.; Dubey, Archana; Mahato, Dip N.; Badu, S. R.; Scheicher, R. H.; Mahanti, Mahendra K.; Huang, M. B.; Saha, H. P.; Chow, Lee; Das, T. P.

    Magnetic Hyperfine and Nuclear Quadrupole Interactions (HPI and NQI) are now important tools for characterization of systems of interest in materials research and industry. Boron-Trifluoride is an inorganic compound that is very important in this respect as a catalyst in chemical physics research and industry, forming complexes in the process with compounds like ammonia, water and methyl alcohol. The present paper deals with the BP3-NH3 complex and methyl derivatives BP3NHx(CH3)3-x for which we have studied the electronic structures, binding energies, and 19F* (I=5/2) nuclear quadrupole interactions using the first-principles Hartree-Fock-Roothaan procedure combined with electron correlation effects. Our results for the 19F* nuclear quadrupole coupling constant (e 2qQ/h) in units of MHz compare well with experiment. Trends in the binding energies and NQI parameters between the complexes are discussed.

  3. Theory of electronic structure and nuclear quadrupole interactions in the BF3 NH3 complex and methyl derivatives

    NASA Astrophysics Data System (ADS)

    Pink, R. H.; Dubey, Archana; Mahato, Dip N.; Badu, S. R.; Scheicher, R. H.; Mahanti, Mahendra K.; Huang, M. B.; Saha, H. P.; Chow, Lee; Das, T. P.

    2007-04-01

    Magnetic Hyperfine and Nuclear Quadrupole Interactions (HFI and NQI) are now important tools for characterization of systems of interest in materials research and industry. Boron-Trifluoride is an inorganic compound that is very important in this respect as a catalyst in chemical physics research and industry, forming complexes in the process with compounds like ammonia, water and methyl alcohol. The present paper deals with the BF3 NH3 complex and methyl derivatives BF3NHx(CH3)3-x for which we have studied the electronic structures, binding energies, and 19F* ( I = 5/2) nuclear quadrupole interactions using the first-principles Hartree Fock Roothaan procedure combined with electron correlation effects. Our results for the 19F* nuclear quadrupole coupling constant ( e 2 qQ/ h) in units of MHz compare well with experiment. Trends in the binding energies and NQI parameters between the complexes are discussed.

  4. Physical Principles of Skeletal Minerals Revealed with Spectromicroscopy

    SciTech Connect

    Gilbert, Pupa

    2009-08-05

    Skeletal elements of marine and terrestrial organisms have the most fascinating nano-to-macro-structures, attracting the attention of physicists, biologists, chemists, and materials scientists. Using X-PEEM spectromicroscopy we revealed some of the fundamental mechanisms leading to the formation of these biominerals. Specifically, we addressed the following questions and provided the answers: 1Q) How do teeth, bones, and echinoderm and mollusk shells acquire their unusual, curved and complex morphology, if they are composed of single crystals? 1A) Via amorphous precursor phases; 2Q) How does crystallinity propagate through the amorophous precursor phases in sea urchin spicules and teeth? 2A) By secondary nucleation, following random walk patterns; 3Q) How does iridescent mother-of-pearl become ordered? 3A) Gradually, through a kinetic mechanisms in which fastest growing single-crystals win the competition for space, thus end up being approximately co-oriented.

  5. Study on Expansion of Convolutional Compactors over Galois Field

    NASA Astrophysics Data System (ADS)

    Arai, Masayuki; Fukumoto, Satoshi; Iwasaki, Kazuhiko

    Convolutional compactors offer a promising technique of compacting test responses. In this study we expand the architecture of convolutional compactor onto a Galois field in order to improve compaction ratio as well as reduce X-masking probability, namely, the probability that an error is masked by unknown values. While each scan chain is independently connected by EOR gates in the conventional arrangement, the proposed scheme treats q signals as an element over GF(2q), and the connections are configured on the same field. We show the arrangement of the proposed compactors and the equivalent expression over GF(2). We then evaluate the effectiveness of the proposed expansion in terms of X-masking probability by simulations with uniform distribution of X-values, as well as reduction of hardware overheads. Furthermore, we evaluate a multi-weight arrangement of the proposed compactors for non-uniform X distributions.

  6. A New Class of Priority-based Weighted Fair Scheduling Algorithm

    NASA Astrophysics Data System (ADS)

    Yang, Li; Pan, ChengSheng; Zhang, ErHan; Liu, HaiYan

    The traditional fair queuing scheduling algorithm (WFQ WF2Q) for data application is a fair and efficient algorithm, while when they face to real-time applications such as voice, interactive video, and so on, they are short of the guarantee of strict time delay. In view of this, we propose one kind of weighted fair scheduling algorithm which is based on an strict rob priority class, this algorithm add an absolute priority queue based on the foundation of based class weighted fair scheduling algorithm(CBWFQ), and it also carries on the expansion to network simulator NS2. With the comparison to traditional algorithm, we can drawn a conclusion from the simulation results that the new algorithm can improve the time delay, fairness and other network performances based on the same throughput. Namely it guarantees the real-time application of Quality of Service, also guarantees the fair transmission of other service.

  7. Fractional vortex molecules and vortex polygons in a baby Skyrme model

    NASA Astrophysics Data System (ADS)

    Kobayashi, Michikazu; Nitta, Muneto

    2013-06-01

    We construct a molecule of fractional vortices with fractional topological lump charges as a baby Skyrmion with the unit topological lump charge in the antiferromagnetic (or XY) baby Skyrme model, that is, an O(3) sigma model with a four-derivative term and an antiferromagnetic or XY-type potential term quadratic in fields. We further construct configurations with topological lump charges Q≤7 and find that bound states of vortex molecules constitute regular polygons with 2Q vertices as vortices, where the rotational symmetry SO(2) in real space is spontaneously broken into a discrete subgroup ZQ. We also find metastable and arrayed bound states of fractional vortices for Q=5, 6. On the other hand, we find for Q=7 that the regular polygon is metastable and the arrayed bound state is stable. We calculate binding energies of all configurations.

  8. A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity

    PubMed Central

    Artigalás, Osvaldo; Paskulin, Giorgio; Riegel, Mariluce; Burin, Maira; Saraiva-Pereira, Maria Luiza; Maluf, Sharbel; Kiss, Andrea; Schwartz, Ida Vanessa D.

    2012-01-01

    A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudodeficiency ARSA allele and a de novo apparently balanced t(16;22)(p11.2;q13) translocation. A deletion on the long arm of chromosome 22 encompassing the ARSA gene, as shown by FISH and array-CGH, indicated a 22q13 deletion syndrome. This case illustrates the importance of detailed cytogenetic investigation in patients presenting low arylsulfatase A activity and atypical/unspecific clinical features. PMID:22888290

  9. Diffractive dijet production with a leading proton in ep collisions at HERA

    NASA Astrophysics Data System (ADS)

    Andreev, V.; Baghdasaryan, A.; Begzsuren, K.; Belousov, A.; Belov, P.; Boudry, V.; Brandt, G.; Brinkmann, M.; Brisson, V.; Britzger, D.; Buniatyan, A.; Bylinkin, A.; Bystritskaya, L.; Campbell, A. J.; Cantun Avila, K. B.; Ceccopieri, F.; Cerny, K.; Chekelian, V.; Contreras, J. G.; Cvach, J.; Dainton, J. B.; Daum, K.; Diaconu, C.; Dobre, M.; Dodonov, V.; Dossanov, A.; Eckerlin, G.; Egli, S.; Elsen, E.; Favart, L.; Fedotov, A.; Feltesse, J.; Ferencei, J.; Fleischer, M.; Fomenko, A.; Gabathuler, E.; Gayler, J.; Ghazaryan, S.; Glazov, A.; Goerlich, L.; Gogitidze, N.; Gouzevitch, M.; Grab, C.; Grebenyuk, A.; Greenshaw, T.; Grindhammer, G.; Haidt, D.; Henderson, R. C. W.; Herbst, M.; Hladky, J.; Hoffmann, D.; Horisberger, R.; Hreus, T.; Huber, F.; Jacquet, M.; Janssen, X.; Jung, H.; Kapichine, M.; Kiesling, C.; Klein, M.; Kleinwort, C.; Kogler, R.; Kostka, P.; Kretzschmar, J.; Krüger, K.; Landon, M. P. J.; Lange, W.; Laycock, P.; Lebedev, A.; Levonian, S.; Lipka, K.; List, B.; List, J.; Lobodzinski, B.; Malinovski, E.; Martyn, H.-U.; Maxfield, S. J.; Mehta, A.; Meyer, A. B.; Meyer, H.; Meyer, J.; Mikocki, S.; Morozov, A.; Müller, K.; Naumann, Th.; Newman, P. R.; Niebuhr, C.; Nowak, G.; Olsson, J. E.; Ozerov, D.; Pahl, P.; Pascaud, C.; Patel, G. D.; Perez, E.; Petrukhin, A.; Picuric, I.; Pirumov, H.; Pitzl, D.; Plačakytė, R.; Pokorny, B.; Polifka, R.; Radescu, V.; Raicevic, N.; Ravdandorj, T.; Reimer, P.; Rizvi, E.; Robmann, P.; Roosen, R.; Rostovtsev, A.; Rotaru, M.; Rusakov, S.; Šálek, D.; Sankey, D. P. C.; Sauter, M.; Sauvan, E.; Schmitt, S.; Schoeffel, L.; Schöning, A.; Schultz-Coulon, H.-C.; Sefkow, F.; Shushkevich, S.; Soloviev, Y.; Sopicki, P.; South, D.; Spaskov, V.; Specka, A.; Steder, M.; Stella, B.; Straumann, U.; Sykora, T.; Thompson, P. D.; Traynor, D.; Truöl, P.; Tsakov, I.; Tseepeldorj, B.; Turnau, J.; Valkárová, A.; Vallée, C.; Van Mechelen, P.; Vazdik, Y.; Wegener, D.; Wünsch, E.; Žáček, J.; Zhang, Z.; Žlebčík, R.; Zohrabyan, H.; Zomer, F.

    2015-05-01

    The cross section of the diffractive process e + p → e + Xp is measured at a centre-of-mass energy of 318 GeV, where the system X contains at least two jets and the leading final state proton p is detected in the H1 Very Forward Proton Spectrometer. The measurement is performed in photoproduction with photon virtualities Q 2 < 2 GeV2 and in deep-inelastic scattering with 4 GeV2 < Q 2 < 80 GeV2. The results are compared to next- to-leading order QCD calculations based on diffractive parton distribution functions as extracted from measurements of inclusive cross sections in diffractive deep-inelastic scattering.

  10. High quality thin films of thermoelectric misfit cobalt oxides prepared by a chemical solution method.

    PubMed

    Rivas-Murias, Beatriz; Manuel Vila-Fungueiriño, José; Rivadulla, Francisco

    2015-01-01

    Misfit cobaltates ([Bi/Ba/Sr/Ca/CoO]n(RS)[CoO2]q) constitute the most promising family of thermoelectric oxides for high temperature energy harvesting. However, their complex structure and chemical composition makes extremely challenging their deposition by high-vacuum physical techniques. Therefore, many of them have not been prepared as thin films until now. Here we report the synthesis of high-quality epitaxial thin films of the most representative members of this family of compounds by a water-based chemical solution deposition method. The films show an exceptional crystalline quality, with an electrical conductivity and thermopower comparable to single crystals. These properties are linked to the epitaxial matching of the rock-salt layers of the structure to the substrate, producing clean interfaces free of amorphous phases. This is an important step forward for the integration of these materials with complementary n-type thermoelectric oxides in multilayer nanostructures. PMID:26153533

  11. High quality thin films of thermoelectric misfit cobalt oxides prepared by a chemical solution method

    PubMed Central

    Rivas-Murias, Beatriz; Manuel Vila-Fungueiriño, José; Rivadulla, Francisco

    2015-01-01

    Misfit cobaltates ([Bi/Ba/Sr/Ca/CoO]nRS[CoO2]q) constitute the most promising family of thermoelectric oxides for high temperature energy harvesting. However, their complex structure and chemical composition makes extremely challenging their deposition by high-vacuum physical techniques. Therefore, many of them have not been prepared as thin films until now. Here we report the synthesis of high-quality epitaxial thin films of the most representative members of this family of compounds by a water-based chemical solution deposition method. The films show an exceptional crystalline quality, with an electrical conductivity and thermopower comparable to single crystals. These properties are linked to the epitaxial matching of the rock-salt layers of the structure to the substrate, producing clean interfaces free of amorphous phases. This is an important step forward for the integration of these materials with complementary n-type thermoelectric oxides in multilayer nanostructures. PMID:26153533

  12. Measurement of the proton structure function F2 and of the total photon-proton cross section σ totγ ∗p at very low Q2 and very low x

    NASA Astrophysics Data System (ADS)

    Amelung, Christoph; ZEUS Collaboration

    1999-10-01

    The proton structure function F2 has been measured in the range 0.045 GeV 2 < Q2 < 0.65 GeV 2and 6·10 -7 < ξ < 1·10 -3 using 3.9 pb -1 of ep → eX reactions recorded with the ZEUS detector in 1997. The analysis is based on data from the Beam Pipe Calorimeter (BPC) and the Beam Pipe Tracker (BPT). Compared to our previous analysis, the BPT permits improved background suppression and better control of systematic uncertainties, allowing the extension of the kinematic region of the measurement towards lower Q2 as well as higher and lower y. Significant improvements have also been achieved in the simulation of the hadronic final state via a mixture of samples of non-diffractive and diffractive Monte Carlo events, generated by the programs DJANGO and RAPGAP.

  13. Old and new results in regularity theory for diagonal elliptic systems via blowup techniques

    NASA Astrophysics Data System (ADS)

    Beck, Lisa; Bulíček, Miroslav; Frehse, Jens

    2015-12-01

    We consider quasilinear diagonal elliptic systems in bounded domains subject to Dirichlet, Neumann or mixed boundary conditions. The leading elliptic operator is assumed to have only measurable coefficients, and the nonlinearities (Hamiltonians) are allowed to be of quadratic (critical) growth in the gradient variable of the unknown. These systems appear in many applications, in particular in differential geometry and stochastic differential game theory. We impose on the Hamiltonians structural conditions developed between 1972-2002 and also a new condition (sum coerciveness) introduced in recent years (in the context of the pay off functional in stochastic game theory). We establish existence, Hölder continuity, Liouville properties, W 2, q estimates, etc. for solutions, via a unified approach through the blow-up method. The main novelty of the paper is the introduction of a completely new technique, which in particular leads to smoothness of the solution also for dimensions d ≥ 3.

  14. Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.

    PubMed Central

    Matsumoto, N; Pilz, D T; Fantes, J A; Kittikamron, K; Ledbetter, D H

    1998-01-01

    X linked lissencephaly and subcortical band heterotopia (XLIS/SBH) is a disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males and SBH associated with milder mental retardation and epilepsy in heterozygous females. Here we report the fine mapping of a breakpoint involved in a de novo X;autosomal balanced translocation (46,XX,t(X;2) (q22.3;p25.1)) previously described in a female with classical lissencephaly. We constructed a complete 490 kb BAC contig around the Xq22.3 breakpoint with 11 novel STSs and isolated three BAC clones spanning the breakpoint. This mapping information and BAC contig will be useful in the detailed characterisation of the XLIS gene and other contiguous genes which may also be involved in brain development or function. Images PMID:9783706

  15. On quintic equations with a linear window

    NASA Astrophysics Data System (ADS)

    Rosenau, Philip

    2016-01-01

    We study a quintic dispersive equation ut =[ au2 + b (uuxx + β ux2) + c (uu4x + 2q1uxu3x +q2uxx2) ]x and show that if β =q1 = -q2, it may be cast into vt = [ vLω u ]x, where v =uω, ω = 2 β + 1 and Lω is a fourth order linear operator. This enables to construct traveling patterns via superposition of solutions. A plethora of bell-shaped, multi-humped and asymmetric compacton, is found. Their interaction ranges from being almost elastic to a noisy one, including fusion of bell-shaped compactons and anti-compactons into robust asymmetric structures. A stationary, zero-mass, doublet-like compacton is found to be an attractor of topologically similar, zero-mass, excitations.

  16. Whole-Genome Screening in Ankylosing Spondylitis: Evidence of Non-MHC Genetic-Susceptibility Loci

    PubMed Central

    Laval, S. H.; Timms, A.; Edwards, S.; Bradbury, L.; Brophy, S.; Milicic, A.; Rubin, L.; Siminovitch, K. A.; Weeks, D. E.; Calin, A.; Wordsworth, B. P.; Brown, M. A.

    2001-01-01

    Ankylosing spondylitis (AS) is a common inflammatory arthritis predominantly affecting the axial skeleton. Susceptibility to the disease is thought to be oligogenic. To identify the genes involved, we have performed a genomewide scan in 185 families containing 255 affected sibling pairs. Two-point and multipoint nonparametric linkage analysis was performed. Regions were identified showing “suggestive” or stronger linkage with the disease on chromosomes 1p, 2q, 6p, 9q, 10q, 16q, and 19q. The MHC locus was identified as encoding the greatest component of susceptibility, with an overall LOD score of 15.6. The strongest non-MHC linkage lies on chromosome 16q (overall LOD score 4.7). These results strongly support the presence of non-MHC genetic-susceptibility factors in AS and point to their likely locations. PMID:11231900

  17. Excitation energy partitioning and quenching during cold acclimation in Scots pine.

    PubMed

    Sveshnikov, Dmitry; Ensminger, Ingo; Ivanov, Alexander G; Campbell, Douglas; Lloyd, Jon; Funk, Christiane; Hüner, Norman P A; Oquist, Gunnar

    2006-03-01

    -cluster S2 and the semireduced secondary electron acceptor quinone Q(B)- (S2Q(B)-) were shifted to lower temperatures in cold-acclimated seedlings compared with control seedlings and this effect depended on irradiance. Concomitant with this, cold-acclimated seedlings demonstrated a significant shift in the S2 recombination with primary acceptor Q(A)- (S2Q(A)-) characteristic TL emission peak to higher temperatures, thus narrowing the redox potential gap between S2Q(B)- and S2Q(A)-, which might result in increased probability for non-radiative radical pair recombination between the PSII reaction center chlorophyll a (P680+) and Q(A)- (P680+)Q(A)-) (reaction center quenching) in cold-acclimated seedlings. In Scots pine seedlings, mechanisms of quenching excess light energy in winter therefore involve light-dependent regulation of reaction center content and both reaction center-based and antenna-based quenching of excess light energy, enabling them to withstand high excitation pressure under northern winter conditions. PMID:16356904

  18. A novel human gene encoding a G-protein-coupled receptor (GPR15) is located on chromosome 3

    SciTech Connect

    Heiber, M.; Marchese, A.; O`Dowd, B.F.

    1996-03-05

    We used sequence similarities among G-protein-coupled receptor genes to discover a novel receptor gene. Using primers based on conserved regions of the opioid-related receptors, we isolated a PCR product that was used to locate the full-length coding region of a novel human receptor gene, which we have named GPR15. A comparison of the amino acid sequence of the receptor gene, which we have named GPR15. A comparison of the amino acid sequence of the receptor encoded by GPR15 with other receptors revealed that it shared sequence identity with the angiotensin II AT1 and AT2 receptors, the interleukin 8b receptor, and the orphan receptors GPR1 and AGTL1. GPR15 was mapped to human chromosome 3q11.2-q13.1. 12 refs., 2 figs.

  19. Genetic obesity syndromes.

    PubMed

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome. PMID:18230893

  20. Intellectual disability, unusual facial morphology and hand anomalies in sibs.

    PubMed

    Sousa, Sérgio B; Venâncio, Margarida; Chanudet, Estelle; Palmer, Rodger; Ramos, Lina; Beales, Philip L; Moore, Gudrun E; Saraiva, Jorge M; Hennekam, Raoul C

    2013-10-01

    Here we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two of them (short left third and fifth right metacarpals in one case; marked syndactyly between the third and fourth fingers in another). One of the sisters had microcephaly and short stature, and the other two were obese. Obesity and somewhat similar facial features were also present in the otherwise healthy mother. Despite the overlap with several known syndromes (Albright osteodystrophy; Filippi syndrome; Rubinstein-Taybi syndrome; microdeletion 2q37), we suggest this condition is previously unreported, and most likely displays an autosomal recessive pattern of inheritance. © 2013 Wiley Periodicals, Inc. PMID:23949889