... completed an analysis of 27 primary breast carcinoma samples for abnormalities in mRNA transcribed from the FHIT (fragile histidine triad) gene, ...

... Alteration of the Fragile Histidine Triad (FHIH) gene, encompassing the FRA3B fragile site at chromosome 3pl4.2, especially reduction or deletion ...

... Abstract : Alteration of the Fragile Histidine Triad (FHIT) gene, encompassing the FRA3B fragile site at chromosome 3p14.2, especially reduction or ...

... Abstract : The FHIT (Fragile Histidine Triad) protein is an intriguing protein having certain properties of a tumor suppressor protein. ...

... A tumor suppressor gene that is frequently altered in various human cancers, FHIT (Fragile Histidine Triad), is an Ap3A and Ap4A hydrolase ...

... THOMAS JEFFERSON UNIV PHILADELPHIA PA. ... fragile site at chromosome 3pl4.2 ... DEOXYRIBONUCLEIC ACIDS, *CHROMOSOMES, *HISTIDINE ...

The continuous recording of hypotonic hemolysis (osmogram) and the multiple tube osmotic fragility test demonstrated excellent correlation in identification of normal and abnormal erythrocytic fragility. Although both procedures are based on the same prin...

Altered folate metabolism has been suggested as a possible reason for expression of the fragile X chromosome in low-folate medium. However, there were no significant differences in the total folate content or in the distribution of folate cofactors between fibroblasts from patients with the fragile X chromosome and those of controls both before and after a ...

Transgenic fragile X knockout mice have been constructed to provide an animal model to study the physiologic function of the fragile X gene (FMR1) and to gain more insight into the clinical phenotype caused by the absence of the fragile X protein. Initial experiments suggested that the knockout mice show macroorchidism and cognitive ...

Discusses the Human Genome Project and the identification of Fragile X Syndrome, the most common inherited cause of mental retardation. Fragile X Syndrome is caused by an abnormal gene on the bottom of the X chromosome. Examined the phenotype of Fragile X Syndrome in males and females and the spectrum of learning ...

Caregivers of 55 boys with fragile X syndrome (ages 3-12) and 57 matched controls completed five behavioral questionnaires. Principal components analysis yielded 5 behavioral clusters: abnormal language, tactile defensiveness, poor self-control, poor eye contact/shyness, and hand flapping. Boys with fragile X were four times more ...

The FHIT (Fragile Histidine Triad) protein is an intriguing protein having certain properties of a tumor suppressor protein. The FHIT gene is altered in a large fraction of both sporadic and familial human breast cancers, genetically supporting its tumor ...

Alteration of the Fragile Histidine Triad (FHIT) gene, encompassing the FRA3B fragile site at chromosome 3pl4.2, especially reduction or deletion of its expression, is involved in many breast cancers. Little is known about the biological function of the F...

Alteration of the Fragile Histidine Triad (FHIT) gene, encompassing the FRA3B fragile site at chromosome 3p14.2, especially reduction or deletion of its expression, is involved in many breast cancers. Little is known about the biological function of the F...

The prevalence of mental retardation related to chromosomal abnormalities, including fragile X syndrome, was studied among 2735 males aged between five and 20 years living in the Republic of San Marino. Five cases of chromosomal abnormalities were found, including one case with fragile X syndrome, with partial ...

... as well. Reference Hoeft F, Carter JC, Lightbody AA, Cody Hazlett H, Piven J, Reiss AL. Region- ...

of Mind Understanding Impaired in Males with Fragile X Syndrome? Cathy M. Grant � Ian Apperly � Chris with fragile X syndrome (FXS) have dif- ficulties with social interaction and many show autistic fea- tures with working memory. Keywords Fragile X syndrome . Autistic spectrum disorder . Theory of mind . Inhibition

ObjectiveTo determine how neuroanatomic variation in children and adolescents with fragile X syndrome is linked to reduced levels of the fragile X mental retardation-1 protein and to aberrant cognition and behavior.MethodsThis study included 84 children and adolescents with the fragile X full mutation and 72 typically developing ...

Minocycline can rescue the dendritic spine and synaptic structural abnormalities in the fragile X knock-out mouse. This is a review and preliminary survey to document side effects and potential outcome measures for minocycline use in the treatment of individuals with fragile X syndrome. We surveyed 50 patients with ...

Simple paper chromatography of urine obtained in the Figlu test has been found satisfactory for determining excess excretion of the imidazole metabolites of histidine. It has been confirmed that examination for these in addition to formiminoglutamic acid is necessary for a full assessment of this test. When excretion of the latter is not abnormal in ...

Argues that knowledge from studies of individuals with sex chromosome abnormalities can further understanding of aspects of normal human development. Studies of XO girls, XXY boys, XXX girls, and males with a fragile X chromosome are summarized to demonstrate how results contribute to knowledge about normal cognitive development and about developmental ...

abnormalities in Fragile X syndrome visualized using tensor-based morphometry Agatha D. Lee,a Alex D. Leow. Introduction Fragile X syndrome (FraX) is the commonest inherited form of mental disability, occurring (Eliez et al., 2001). CTL, Control; FraX, Fragile X syndrome. 928 A.D. Lee et al. / NeuroImage 34 (2007

of this article is prohibited. such as fragile X syndrome, Turner syndrome, Williams syndrome, or 22q11.2 deletion syndrome [13]. Neuroima- ging of groups of patients with neurodevelopmental disorders has been extremely dysfunction to behavior [14]. Fragile X syndrome, for example, involves a genetic abnormality

... 20 to 40. Cause and Risk Factors How does histoplasmosis cause ocular histoplasmosis syndrome? Scientists believe that ... histo organism as the cause of OHS. How does OHS develop? OHS develops when fragile, abnormal blood ...

The pathogenesis of fragile-X syndrome is a consequence of absence of the FMR1 gene product associated with expansion of the CGG repeat and abnormal methylation of this and a CpG island 250 hp proximal to the CGG repeat located at exon 1 in the FMR1 gene. While this is usually the case, some suspected fragile-X syndrome patients have ...

Chromosomal common fragile sites (CFSs) are specific mammalian genomic regions that show an increased frequency of gaps and breaks when cells are exposed to replication stress in vitro. CFSs are also consistently involved in chromosomal abnormalities in vivo related to cancer. Interestingly, several CFSs contain one or more tumor suppressor genes whose ...

There were 18 individuals found to have a constitutional chromosome fragility causing an increase in break frequency. For each chromosome the breakpoint is always the same, whether it involves chromosomes from the same person, the same family, or different families. The fragile points are bands 10q24, 12q13, 16q21, 17p12, and Xq27. Autosomal constitutional ...

This proceedings document presents the texts or summaries of 52 papers given at a 1992 conference on Fragile X syndrome. Preliminary information includes names and institutional affiliations of conference faculty, information about the National Fragile X Foundation, awards presented at the conference, and a list of resource centers (by state). Papers are ...

The histidine triad (HIT) protein family is among the most ubiquitous and highly conserved in nature, but a biological activity has not yet been identified for any member of the HIT family. Fragile histidine triad protein (FHIT) and protein kinase C interacting protein (PKCL) were used in a structure-based approach to elucidate ...

BackgroundAutism is a behavioral disorder with impaired social interaction, communication, and repetitive and stereotypic behaviors. About 5�10 % of individuals with autism have 'secondary' autism in which an environmental agent, chromosome abnormality, or single gene disorder can be identified. Ninety percent have idiopathic autism and a major gene has not yet been ...

Over a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 ...

Insulin is stored in pancreatic {beta}-cell as hexameric form with Zn{sup 2+} ions, while the hormonally active form is monomer. The hexamer requires the coordination of Zn{sup 2+} ions to the HisB10. In order to reveal the mechanism of the hexamerization of insulin, we investigated the Zn{sup 2+} free insulin at pD6.6 and pD9 by neutron crystallographic analyses. HisB10 is doubly protonated not ...

The gene responsible for Fragile X syndrome, fragile X mental retardation-1 (FMR1), contains an unstable sequence of CGG trinucleotide repeats in its promoter region. Expansions of >200 trinucleotide repeats are considered full mutations and typically lead to abnormal methylation of the region resulting in loss of FMR1 expression. ...

Osteogenesis imperfecta is a disorder of abnormality in collagen metabolism due to genetic defects, which causes fragility fracture in children. Fragility fracture of the neck of femur can be difficult to treat in adults. The difficulties increase exponentially in children. The challenge becomes more severe when there is an ...

Nowadays, transgenic mice are a common tool to study brain abnormalities in neurological disorders. These studies usually rely on neuropathological examinations, which have a number of drawbacks, including the risk of artefacts introduced by fixation and dehydration procedures. Here we present 3D Fast Spin Echo Magnetic Resonance Imaging (MRI) in combination with 2D and 3D ...

We report on an individual with developmental delays, short stature, skeletal abnormalities, normal pubertal development, expansion of the fragile X triplet repeat, as well as an isodicentric X chromosome. S is a 19-year-old woman who presented for evaluation of developmental delay. Pregnancy was complicated by a threatened miscarriage. She was a healthy ...

Analysis of the phonological patterns of two physically normal boys, aged 5 and 8 years, with fragile X syndrome, an X-chromosomal abnormality usually connected with severe to moderate mental retardation, found language features similar to those found in other studies of fragile X speech. Some of these language features are: repetition ...

Fragile X syndrome (FXS) is the leading inherited cause of mental retardation and autism spectrum disorders worldwide. It presents with a distinct behavioral phenotype which overlaps significantly with that of autism. Unlike autism and most common psychiatric disorders, the neurobiology of fragile X is relatively well understood. Lack of the ...

Fragile X syndrome is the most common form of inherited mental retardation. It is typically caused by a mutation of the Fragile X mental-retardation 1 (Fmr1) gene. To better understand the role of the Fmr1 gene and its gene product, the fragile X mental-retardation protein in central nervous system functions, an fmr1 knockout mouse ...

Gaze avoidance is a hallmark behavioral feature of fragile X syndrome (FXS), but little is known about whether abnormalities in the visual processing of faces, including disrupted autonomic reactivity, may underlie this behavior. Eye tracking was used to record fixations and pupil diameter while adolescents and young adults with FXS and sex- and ...

The sensitivity of fibroblasts cultured from New Zealand Black (NZB) and BALB/c mouse fetuses to uv and gamma radiations was tested with two methods: (1) colony-forming ability and (2) chromosome abnormalities. When compared with BALB/c cells, NZB cells had reduced colony-forming ability and increased chromosome abnormalities after uv irradiation. However, ...

Aim: Fragile X syndrome is associated with cognitive deficits in inhibitory control and with abnormal neuronal morphology and development. Method: In this study, we used a diffusion tensor imaging (DTI) tractography approach to reconstruct white-matter fibers in the ventral frontostriatal pathway in young males with fragile X syndrome ...

Older male premutation carriers of the FMR1 gene are associated with the risk of developing a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome. Although previous postmortem and in vivo magnetic resonance imaging studies have indicated white matter pathology, the regional selectivity of abnormalities, as well as their ...

The salient neuropathological defect in fragile X syndrome is the overabundance of immature dendritic spines in cortical pyramidal neurons. This review examines this anatomical synaptic defect in the context of other alterations in synaptic and circuit plasticity in fragile X mice. In theory, abnormal spines could lead to dysfunctional ...

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder seen in Fragile X premutation carriers. Previous studies found that Fragile X rCGG repeats are sufficient to cause neurodegeneration and that the rCGG repeat-binding proteins Pur ? and hnRNP A2/B1 can modulate rCGG-mediated neuronal toxicity. To explore ...

Fragile X�associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder seen in Fragile X premutation carriers. Previous studies found that Fragile X rCGG repeats are sufficient to cause neurodegeneration and that the rCGG repeat-binding proteins Pur ? and hnRNP A2/B1 can modulate rCGG�mediated neuronal toxicity. To ...

We report on 2 brothers with both fragile X and VACTERL-H syndrome. The first sibling, age 5, had bilateral cleft lip and palate, ventricular septal defect, and a hypoplastic thumb. The second sibling, age 2{1/2}, had a trachesophageal fistula, esophageal atresia, and vertebral abnormality. High-resolution chromosome analysis showed a 46,XY chromosome ...

Fragile X syndrome shares most of the behavioral phenotypic similarities with autism. How are these similarities reflected in brain morphology? A total of 10 children with autism and 7 with fragile X underwent morphological (T1) 1.5-T magnetic resonance imaging (MRI). The authors found no significant difference in total brain volumes, regional volumes, ...

Chromosome analyses with conventional stain, Q- and G-banding, and R-banding with 5-bromodeoxyuridine (BrdU) incorporation were performed on the lymphocytes of two sisters who are heterozygous for the fragile X chromosome and clinically diagnosed as slow learners. Two heterozygous relatives with normal intelligence were used as controls. The frequencies of the active ...

We review the evidence for the frequency of the fragile X syndrome (FXS), other X-linked abnormalities, and other chromosomal disabilities of Turkish pediatric psychiatry outpatients with intellectual disability. Reported clinical features and genetic findings were used in cytogenetic screenings to estimate the prevalence of the ...

BackgroundIn silico analyses provide valuable insight into the biology of obligately intracellular pathogens and symbionts with small genomes. There is a particular opportunity to apply systems-level tools developed for the model bacterium Escherichia coli to study the evolution and function of symbiotic bacteria which are metabolically specialised to overproduce specific nutrients for their host ...

BackgroundFragile X syndrome is the most common inherited form of mental impairment characterized by cognitive impairment, attention deficit and autistic behaviours. The mouse model of Fragile X is used to study the underlying neurobiology associated with behavioral deficiencies. The effect of Fragile X glial cells on the development ...

Suprapubic transabdominal prostatic sonography was performed at two Nigerian centers over the past year. All abnormal glands were found enlarged. Capsular, periprostatic and extra-organ features helped to segregate carcinomas from benign diseases. Gland shape and internal texture were less useful criteria. Prostatic sonography has great promise in developing and ...

Fragile X Syndrome (FXS), also known as Martin-Bell Syndrome, is a genetic abnormality found on the X chromosome. Individuals suffering from FXS display abnormalities in the expression of FMR1--a protein required for typical, healthy neural development. Recent data has suggested that the loss of this protein can cause the cortex to be ...

A homozygote for the gene controlling Hb D Punjab is described. The diagnosis is supported by the peptide analysis of the haemoglobin and the examination of both parents. There was no anaemia or reticulocytosis and there was balanced synthesis of both the alphaA- and betaD-globin chains in reticulocytes. However, the oxygen affinity of the haemolysate had a small but significantly higher oxygen ...

Collagen synthesis, as judged by the accumulation of collagen in a subcutaneous, induced granuloma, was significantly decreased by penicillamine. Penicillamine also caused a marked increase in the amount of soluble collagen in skin and a sharp drop in insoluble material. These findings, which reflect an abnormal pattern of collagen metabolism, are accompanied by an inhibition ...

Fragile X-associated tremor/ataxia syndrome, a neurodegenerative disorder associated with premutation alleles (55�200 CGG repeats) of the FMR1 gene, affects many carriers in late-life. Patients with fragile X-associated tremor/ataxia syndrome typically have cerebellar ataxia, intranuclear inclusions in neurons and astrocytes, as well as cognitive ...

The presence of abnormal type I collagen underlies the tissue fragility in the heritable disease osteogenesis imperfecta (OI), though the specific mechanism remains ill-defined. The current study addressed the question of how an abnormal collagen-based matrix contributes to reduced bone strength in OI by comparing the material ...

The sub-Tg enthalpy relaxation in glasses far from equilibrium (i.e., hyperquenched glasses) is usually manifested as a monotonic increase in both the onset temperature and the extent of enthalpy recovery with increasing the annealing temperature. Here we report an abnormal three-steplike relaxation pattern in hyperquenched Cu45Zr45Al10 and Cu48Zr48Al4 glasses below Tg, i.e., ...

Fragile X syndrome (FXS) is the most common form of hereditary mental retardation. FXS patients have a deficit for the fragile X mental retardation protein (FMRP) that results in abnormal neuronal dendritic spine morphology and behavioral phenotypes, including sleep abnormalities. In a Drosophila model of FXS, ...

Rac1, a protein of the Rho GTPase subfamily, has been implicated in neuronal and spine development as well as the formation of synapses with appropriate partners. Dendrite and spine abnormalities have been implicated in several psychiatric disorders such as Fragile X syndrome, where neurons show a high density of long, thin, and immature dendritic spines. ...

AIMFragile X syndrome is associated with cognitive deficits in inhibitory control and with abnormal neuronal morphology and development.METHODIn this study, we used a diffusion tensor imaging (DTI) tractography approach to reconstruct white-matter fibers in the ventral frontostriatal pathway in young males with fragile X syndrome (n=17; mean age 2y 9mo, SD ...

A review is given of what is known of the pathways of histidine metabolism. A bibliography of 134 items is included.

Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disorder that primarily affects older male premutation carriers of the fragile X mental retardation gene. Although its core symptoms are mainly characterized by motor problems such as intention tremor and gait ataxia, cognitive decline and psychiatric problems are also commonly observed. ...

Among 6800 consecutive blood samples studies for clinical cytogenetic diagnosis, we identified 30 families in which one parent of the proband had a balanced reciprocal autosomal translocation (excluding Robertsonian rearrangements). Twenty-eight of the 30 families had a malformed and/or mentally retarded proband: 19 with an unbalanced derived chromosome, 3 with abnormalities ...

With the purpose of determining and characterizing chromosomal alterations and their relation to the radiation dose, time of employment and weekly exposure time, a transversal cut-descriptive study was performed on 18 workers, exposed to ionizing radiation, from a specialized company in the Venezuelan oil industry. These workers, male and females, constituted all the population studied, aged ...

The fragile X syndrome is the most frequent form of inherited mental retardation in humans with an incidence of 1 in 1250 males and 1 in 2500 females. The clinical syndrome includes moderate to severe mental retardation, autistic behavior, macroorchidism, and facial features, such as long face with mandibular prognathism and large, everted ears. The molecular basis for this ...

Fragile X syndrome (FXS) is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1), leading to deficiency or absence of the FMR1 protein (FMRP). FMRP is an RNA carrier protein that controls the translation of several other genes that regulate synaptic development and plasticity. ...

The authors report the results of a 14-center collaborative study of genotype-phenotype correlations in 318 fragile X families; these families comprised 2,253 individuals, 1,344 of whom carried a fragile X mutation and 693 of whom had a typical full fragile X mutation. This study demonstrates that direct DNA diagnosis establishes the ...

Abnormality in the fragile histidine triade (FHIT), a candidate tumor suppressor gene located in chromosome region 3 (3p14.2), has been frequently found in multiple tumor types, including lung cancer. In this study, the authors assessed the consistency of DNA microsatellite analysis of induced sputum (IS), as compared to that of blood ...

Three cases of fragile X (fra X) have been identified in a systematic survey of 30 boys, aged 3 to 14, with infantile autism or psychotic disorders, associated with mental retardation. Only one of these children exhibited a dysmorphy characterizing the Martin-Bell syndrome. Two fra X cases fulfilled the DSM III criteria for autism; none corresponded to the Kanner's description ...

Kindler syndrome is an autosomal recessive disorder characterized by neonatal blistering, sun sensitivity, atrophy, abnormal pigmentation, and fragility of the skin. Linkage and homozygosity analysis in an isolated Panamanian cohort and in additional inbred families mapped the gene to 20p12.3. Loss-of-function mutations were identified in the FLJ20116 gene ...

Autonomic reactivity was studied in individuals with fragile X syndrome (FXS), a genetic disorder partially characterized by abnormal social behavior. Relative to age-matched controls, the FXS group had faster baseline heart rate and lower amplitude respiratory sinus arrhythmia (RSA). In contrast to the typically developing controls, there was a decrease ...

... contains over 3000 pages of content on the genetic mutation called Fragile X including fragile X syndrome (FXS), ...

... This report introduces the concept of the fragility curve and shows how fragility curves are related to more familiar reliability concepts, such as the ...

Since the beginning of cytogenetics, there has been a constant improvement of chromosomal culture and banding techniques. In 1976, Yunis described a high chromosomal resolution technique (HRC), that permits the detection of subtle chromosomal abnormalities. The present work, reports the results obtained when HRC was applied to the study of chromosomal ...

Rett syndrome is an autism spectrum disorder and a leading cause of severe mental retardation in girls. The nature of the cognitive abnormalities in Rett, as described in humans and other animal models, and its potential reversibility and treatment are the subject of this review. Rett syndrome is associated with severe mental retardation and a host of impairments that include ...

Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and the leading genetic cause of autism. It is associated with the lack of fragile X mental retardation protein (FMRP), a regulator of protein synthesis in axons and dendrites. Studies on FXS have extensively focused on the postsynaptic changes underlying dysfunctions in ...