... OF ELASTICITY, ACCURACY, MODULAR CONSTRUCTION, MODULES( ELECTRONICS), DIFFERENTIAL PULSE CODE MODULATION ...

... Title : FREQUENCY-IMPULSE MODULATION AS A MEANS OF ATTAINING ACCURACY IN CESIUM ATOMIC CLOCKS. ...

... Moreover, the authors have shown that a major factor modulating somatic mutational burden is DNA repair capacity, and that this characteristic can ...

Cancer patients are often overtreated because of a failure to identify low-risk cancer patients. Thus far, no algorithm has been able to successfully generate cancer prognostic gene signatures with high accuracy and robustness in order to identify these patients. In this paper, we developed an algorithm that identifies prognostic markers using tumour ...

Numerous studies of the impact of accessory proteins upon the fidelity of DNA synthesis have provided a complex and sometimes discordant picture. We previously described such an analysis conducted in vitro using various bacteriophage RB69 gp43 mutator DNA polymerases with or without the accessory proteins gp32 (which binds single-stranded DNA) plus gp45/44/62 (processivity ...

ILS Modulation Meters, with a high degree of measurement accuracy, incorporated a pulse modulation calibration technique which had not previously been used to establish amplitude modulation levels. A source of sine wave modulated signals with sufficiently...

BackgroundIn any natural population, mutation is the primary source of genetic variation required for evolutionary novelty and adaptation. Nevertheless, most mutations, especially those with phenotypic effects, are harmful and are consequently removed by natural selection. For this reason, under natural selection, an organism will evolve to a lower ...

... NEOPLASMS, MUTATIONS, CELLS(BIOLOGY), GENETICS, NUCLEI, PERIPHERAL NERVOUS SYSTEM, PERIPHERAL NEUROPATHY. ...

... A gene that is commonly mutated in these inherited cases of breast cancer is called BRCA2 (Breast Cancer susceptibility gene). ...

age products fall within the users own channel, thus minimising the accuracy ..... Voice Quality. Test of ACSSB. Modulators and Digital Vocoders,". INMARSAT ...

... itself. The pulse can be compressed using analog (frequency modulation) or digital (Barker codes) methods. The pulse ...

... collimator, and photon contamination contributes ... for any beam verification system for ... ACCURACY, ELECTRONS, PHOTONS, PERTURBATIONS ...

... Existing radiative transfer computer codes were used when the required accuracy and resolution could be met. The cloud module in particular ...

Highly complementary antisense morpholino oligonucleotides (AMOs) can bind to pre-mRNA and modulate splicing site selection. This offers a powerful tool to regulate the splicing process, such as correcting subtypes of splicing mutations and nonsense mutations and reprogramming alternative splicing processes. Therefore, AMO-mediated ...

Whole-genome sequencing is a powerful technique for obtaining the reference sequence information of multiple organisms. Its use can be dramatically expanded to rapidly identify genomic variations, which can be linked with phenotypes to obtain biological insights. We explored these potential applications using the emerging next-generation sequencing platform Solexa Genome Analyzer, and the ...

We experimentally analyse the impact of pulse modulation format on BOTDA sensors exploiting Simplex coding. A careful optimisation of modulation format is required to avoid spurious oscillations causing severe penalties in the measurement accuracy.

ABSTRACT: In many fields it is now desirable to sequence large panels of genes for mutation, to aid management of patients. The need for extensive sample preparation means that current approaches for assessing mutation status in the clinical setting are limited. A recent publication demonstrates a single-step, targeted, true single-molecule sequencing ...

An electrooptic system for modulation of continuous laser radiation is described that combines the functions of stabilization and modulation. The operation of the system is based on the difference between an electrically produced modulating signal and a signal that is proportional to the power of the radiation that has passed through ...

... initial bacteria and phage density, mutation rate, phage adsorption rate, and burst size. The bacterial growth rates ( ... m - mutation rate leading to phage resistance} {d - adsorption rate of bacteriopha...

In this paper we describe an approach to automatic evaluation of both the speech recognition and understanding capabilities of a spoken dialogue system for train time table information. We use word accuracy for recognition and concept accuracy for understanding performance judgement. Both measures are calculated by comparing these ...

Mar 1, 2011 ... lines to assess the genetic factors that modulate susceptibility apoptosis ... p53 can increase susceptibility to x-ray-induced mutations. ...

Jul 14, 2003 ... Comparative Analysis of Fe Ion-Induced Autosomal Mutations in ... HZE Radiation: Modulation of Genetic Effects by RNA Interference of NHEJ ...

... system at different shear force environments (Fowler cell adhesion module). ... Keywords; Biofouling, Corrosion, Molecular biology, Mutations; ...

... a gene that is commonly mutated in these familial cases of breast cancer is called BRCA2 (Breast Cancer susceptibility gene) BRCA2 is considered ...

As part of a theoretical study on the accuracy of an astronomy satellite, the first numerical results obtained with the software developed are presented. Topics include evaluation of the modulation transfer functions, grid optimization, filtering algorith...

of a location accuracy of 5 km and a platform velocHy accuracy of 1 III/S. ..... jamming of the scan mechanism. Selected SCAMS images were presented ...... module (WBM), and the global positioning system (GPS); and (2) ...

Modulation transfer function (MTF) of optical systems is often derived by taking Fourier transform (FT) of a measured line spread function (LSF). During MTF measurement process, the measurement accuracy of MTF will decrease as a result when LSF computed is not veracity. Based on the model constructed using the variance information of knife-edge and skew of ...

This paper describes studies of the threshold modulation curve for photographic film. The threshold modulation curve is an empirically derived relation showing the need at any spatial frequency for modulation in the aerial image of a tribar for resolution to be achieved. The paper deals with the history, raison d'�tre, theory, method ...

DinB (DNA Pol IV) is a translesion (TLS) DNA polymerase, which inserts a nucleotide opposite an otherwise replication-stalling N²-dG lesion in vitro, and confers resistance to nitrofurazone (NFZ), a compound that forms these lesions in vivo. DinB is also known to be part of the cellular ...

BackgroundA better understanding of the mechanisms of an enzyme's functionality and stability, as well as knowledge and impact of mutations is crucial for researchers working with enzymes. Though, several of the enzymes' databases are currently available, scientific literature still remains at large for up-to-date source of learning the effects of a ...

Deep space optical communication requires a modulated laser with low power consumption, high data rate/accuracy, diffraction-limited beam quality, ...

polarization or intensity via the instrument-induced polarization. A similar instrument-induced polarization requirement applies to circular diattenuation. ...

polarization or intensity via the instrument-induced polarization. A similar instrument-induced polarization requirement applies to circular diattenuation. ...

Collective term for all bank master data records. ... The payment proposal should always be verified for accuracy prior to running the payment run. ...

This report explains the method chosen to phase match cables, it`s accuracy and the effects of mismatched cables on the position output of the Linac Beam Position Module.

... Provides detailed search and analysis capabilities across ... optimized day, twilight and night optical modules ... good static and dynamic HMS-accuracy ...

Hearing impairment is the most prevalent sensorial deficit in the general population. Congenital deafness occurs in about 1 in 1000 live births, of which approximately 50% has hereditary cause in development countries. Non-syndromic deafness can be caused by mutations in both nuclear and mitochondrial genes. Mutations in mtDNA have been associated with ...

Hearing impairment is the most prevalent sensorial deficit in the general population. Congenital deafness occurs in about 1 in 1000 live births, of which approximately 50% has hereditary cause in development countries. Non-syndromic deafness can be caused by mutations in both nuclear and mitochondrial genes. Mutations in mtDNA have been associated with ...

We distinguish the contribution of the electrostatic environment, initial conformational ensemble, and macromolecular stability on the folding mechanism of a large RNA using a combination of time-resolved 'Fast Fenton' hydroxyl radical footprinting and exhaustive kinetic modeling. This integrated approach allows us to define the folding landscape of the L-21 Tetrahymena ...

Predicting how aqueous solvent modulates the conformational transitions and influences the pKa values that regulate the biological functions of biomolecules remains an unsolved challenge. To address this problem, we developed FDPB_MF, a rotamer repacking method that exhaustively samples side chain conformational space and rigorously calculates multibody protein-solvent ...

Predicting how aqueous solvent modulates the conformational transitions and influences the pKa values that regulate the biological functions of biomolecules remains an unsolved challenge. To address this problem, we developed FDPB_MF, a rotamer repacking method that exhaustively samples side chain conformational space and rigorously calculates multibody protein�solvent ...

Sickle cell anemia (SCA) is a paradigmatic single gene disorder caused by homozygosity with respect to a unique mutation at the ?-globin locus. SCA is phenotypically complex, with different clinical courses ranging from early childhood mortality to a virtually unrecognized condition. Overt stroke is a severe complication affecting 6�8% of individuals with SCA. Modifier genes ...

A theoretical study of three modulation-demodulation methods for use in the VGH recorder was conducted. Emphasis was placed upon the suitability of each system for providing increased accuracy over low speed direct tape recording. The methods investigated...

The accuracies of modulation techniques used in Mossbauer spectroscopy to measure small energy shifts between source and absorber line positions are compared. The methods considered are sinusoidal and constant velocity Doppler modulation at low drive freq...

This report describes modifications of the MELCOR computer code aerosol transport module that will increase the accuracy of calculations for safety analysis of the International Thermonuclear Experimental Reactor (ITER). The modifications generalize aeros...

://mendel.stanford.edu/supplementarydata/stone_MAPP_2005.] Missense mutations that impair protein function may result in disease. For diseases caused is impaired by the missense mutation; (2) variants of other genes that modulate the effect of the major locus statistical framework for the first of these parameters, impairment of ...

This module is the fifth in a series of 12 learning modules designed to teach occupational mathematics. Blocks of informative material and rules are followed by examples and practice problems. The solutions to the practice problems are found at the end of the module. Specific topics covered include calculator multiplication of ...

The accuracy to which a concentrator photovoltaic (CPV) system can track the sun is an important parameter that influences a number of measurements that indicate the performance efficiency of the system. This paper presents work carried out into determining the tracking accuracy of a CPV system, and illustrates the steps involved in gaining an ...

Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome. Bonadona V, Bona�ti B, Olschwang S, et al. (2011) JAMA: 305(22):2304-2310. PMID:21883164

a given accuracy. The analysis compares the two current techniques and the GA using .... intelligence. GAs are search techniques based on the mechanics .... of strings, and this top 5 percent were safe from any mutation. Different ...

An important force in evolutionary selection may be informational efficiency, which results in a balance between the energy expended to maintain a high level of fidelity and the energy lost from errors or mutations in the production of defective offspring...

The effect of the frequency radiation of laser radiation, stabilized with respect to the Lamb shift, on the accuracy of laser displacement-measuring instruments is analyzed using a mockup displacement measuring scheme with a helium-neon laser. It is shown that the error associated with the frequency modulation can be considerably reduced through the use of ...

It is well known that beam position monitors (BPM) utilizing signals from pickup electrodes (PUE) provide good resolution and relative accuracy. The absolute accuracy (i.e. position of the orbit in the vacuum chamber) is not very good due to the various reasons. To overcome the limitation it was suggested to use magnetic centers of quadrupoles for the ...

consumer request check value DS servicer request consumer stored range probe consumer-initiated probe. � Information Consumer: This module consumes data col- lected from the information sources (stored in the direc the preferences of consumers. � � � no preference � timeliness weighs more than accuracy � accuracy weighs ...

The motor system can use a number of mechanisms to increase movement accuracy and compensate for perturbing external forces, interaction torques, and neuromuscular noise. Empirical studies have shown that stiffness modulation is one adaptive mechanism used to control arm movements in the presence of destabilizing external force loads. Other work has shown ...

Correlated mutations in proteins are believed to occur in order to preserve the protein functional folding through evolution. Their values can be deduced from sequence and/or structural alignments and are indicative of residue contacts in the protein three-dimensional structure. A correlation among pairs of residues is routinely evaluated with the Pearson correlation ...

... et al. 1996. Heteroplasmic point mutations in the human mtDNA control region. Am. J. Hum. Genet 59:1276�1287. ... et al. 2000. The mutation rate in the human mtDNA control region. Am. J. Hum. Genet 66:159...

... et al. 1996. Heteroplasmic point mutations in the human mtDNA control region. Am. J. Hum. Genet. 59:1276�1287. ... et al. 2000. The mutation rate in the human mtDNA control region. Am. J. Hum. Genet. 66:1...

We provide a framework for Bayesian coalescent inference from microsatellite data that enables inference of population history parameters averaged over microsatellite mutation models. To achieve this we first implemented a rich family of microsatellite mutation models and related components in the software package BEAST. BEAST is a powerful tool that ...

One selection pressure shaping sequence evolution is the requirement that a protein fold with sufficient stability to perform its biological functions. We present a conceptual framework that explains how this requirement causes the probability that a particular amino acid mutation is fixed during evolution to ...

PAHdb (http://www.mcgill.ca/pahdb ) is a curated relational database (Fig. 1) of nucleotide variation in the human PAH cDNA (GenBank U49897). Among 328 different mutations by state (Fig. 2) the majority are rare mutations causing hyperphenylalaninemia (HPA) (OMIM 261600), the remainder are polymorphic variants without apparent effect on phenotype. PAHdb ...

We present a novel method that combines protein structure information with protein interaction data to identify residues that form part of an interaction interface. Our prediction method can retrieve interaction hotspots with an accuracy of 60% (at a 20% false positive rate). The method was applied to all mutations in the Online Mendelian Inheritance in ...

Ivermectin is a macrocyclic lactone that acts as a positive allosteric modulator of ?7 nicotinic acetylcholine receptors (nAChRs) but has no modulatory activity on 5-hydroxytryptamine (5-HT) type 3 (5-HT₃) receptors. By examining the influence of ivermectin on subunit chimeras containing domains from the nAChR ?7 subunit and the 5-HT3A subunit, we have ...

Dynamic radiation force has been used in several types of applications, and is performed by modulating ultrasound with different methods. By modulating ultrasound, energy can be transmitted to tissue, in this case a dynamic force to elicit a low frequency cyclic displacement to inspect the material properties of the tissue. In this paper, different types ...

BRCTs are protein-docking modules involved in eukaryotic DNA repair. They are characterized by low sequence homology with generally well-conserved structure organization. In a considerable number of proteins, a pair of BRCT structural repeats occurs, connected with inter-BRCT linkers, variable in length, sequence and structure. Linkers may separate and control the relative ...

Consideration of simple kinetic schemes for the discrimination of charged tRNA at the ribosome has led us to expect changes in the elongation speed to be caused by some ribosomal mutations. We have examined this hypothesis by investigating the effect of several well-studied mutations of E. coli ribosomes on the chain elongation time in the translation of ...

The aim of this study was to demonstrate the presence of the A189G age-related point mutation on DNA extracted from bone. For this, a peptide nucleic acid (PNA)/DNA sequencing method which can determine an age threshold for the appearance of the mutation was used. Initially, work was done in muscle tissue in order to evaluate the sensitivity of the ...

Due to the call for fast KRAS mutation status analysis for treatment of patients with monoclonal antibodies for metastatic colorectal cancer, sensitive, economic, and easily feasible methods are required. Under this aspect, the sensitivity and specificity of the SNaPshot analysis in comparison to the commonly used DNA sequencing was checked. We examined KRAS ...

Integrated PC reservoir-engineering software systems, sophisticated enough to do reservoir evaluation quickly without sacrificing accuracy, can provide a more detailed and reliable reserve determination than decline-curve analysis. The various modules comprising the software allow for integrating the values generated by one module into ...

with a sinusoidal modulation (Figure 2) whereas other methods are FMCW, pseudo-noise or polarization modulation and the distance itself. 1. INTRODUCTION Range Imaging (RIM) is a fusion of two different technologies. According different distance measurement methods. A modulated radiation (e.g. light) is emitted, reflected

Analog input (ADC) and output (DAC) modules play a substantial role in device level control of accelerator and large experiment physics control system. In order to get the best performance some features of analog modules including linearity, accuracy, cro...

Point mutations in LRRK2 cause autosomal dominant Parkinson's disease. Despite extensive efforts to determine the mechanism of cell death in patients with LRRK2 mutations, the aetiology of LRRK2 PD is not well understood. To examine possible alterations in gene expression linked to the presence of LRRK2 mutations, we carried out a case ...

We examine the behavior of sexual and asexual populations in modular multipeaked fitness landscapes and show that sexuals can systematically reach different, higher fitness adaptive peaks than asexuals. Whereas asexuals must move against selection to escape local optima, sexuals reach higher fitness peaks reliably because they create specific genetic variants that "skip over" fitness valleys, ...

Protein�protein interactions are essential for life. Yet, our understanding of the general principles governing binding is not complete. In the present study, we show that the interface between proteins is built in a modular fashion; each module is comprised of a number of closely interacting residues, with few interactions between the modules. The ...

Classification of mitochondrial DNA (mtDNA) into their respective haplogroups allows the addressing of various anthropologic and forensic issues. Unique to mtDNA is its abundance and non-recombining uni-parental mode of inheritance; consequently, mutations are the only changes observed in the genetic material. These individual mutations are classified into ...

A substantial portion of the human genome has been found to consist of simple sequence repeats, including microsatellites and minisatellites. Microsatellites, tandem repeats of 1-6 nucleotides, form the template for dynamic mutations, which involve heritable changes in the lengths of repeat sequences. In recent years, a large number of human disorders have been found to be ...

The objective of this work consists in working out of a detection module for capnography (carbon dioxide concentration measurement in anaesthesiology and intensive care). The principle of operation of the module consists of the NDIR method. The basic assumption for construction of this model was using of directly modulated thermal IR ...

A new fiber-optic technique to eliminate residual amplitude modulation in tunable diode laser wavelength modulation spectroscopy is presented. The modulated laser output is split to pass in parallel through the gas measurement cell and an optical fiber delay line, with the modulation frequency / delay chosen to ...

?-Secretase modulators (GSMs) inhibit the generation of amyloidogenic A?42 peptides and are promising agents for treatment or prevention of Alzheimer's disease (AD). Recently, a second generation of GSMs with favorable pharmacological properties has emerged, but preclinical studies to assess their efficacy in vivo are lacking. Such studies rely on transgenic mouse models that ...

Mice with circadian gene Period and Cryptochrome mutations develop high bone mass early in life. Such a phenotype is accompanied by an increase in osteoblast numbers in mutant bone and cannot be corrected by leptin intracerebroventricular infusion. Thus, the molecular clock plays a key role in lepti...

The importance of protein phosphorylation to breast cancer has been reaffirmed by recent findings that the BRCA1 C-terminal (BRCT) domains are novel phosphopeptide binding modules. Cancer-associated missense and deletion mutations have been found in the B...

). The segment polarity genes hedgehog (hh) and patched (ptc) are critical in patterning the A/P axis. Hh. The secreted protein, Hedgehog, induces transcription of target genes by opposing the Patched signaling pathway vein phenotype is modulated by mutations in hedgehog and cubitus interruptus (ci). Patched

Partial Contents: Conformational changes occuring in muscle proteins; Mutational analysis of the myosin motor: Regulation and modulation of activity; Mechanochemical coupling in motility: the role of phosphate release; The Bacterial Photoreaction Center: ...

This invention provides methods to identify individuals predisposed to developing osteoarthritis, to diagnose osteoarthritis, and to monitor the progression of the disease. The method also provides methods to identify modulators of bone development that a...

... A. Bystander effect: biological end points and microarray analysis. Mutat. Res ... anions and hydrogen peroxide in human cells. Cancer Res 57:3963� ... ...

NF1 gene mutations are the genetic basis of neurofibromatosis type 1, a common genetic disorder predisposing patients to neoplasia in the peripheral nervous system and other tissues. The NF1 gene encodes a protein called neurofibromin that may negatively ...

... significantly enhanced radiation-related cytotoxicity in cervical and colon cancer cells. 3-AP treatment significantly decreased RNR activity, ... AND METHODS Cell Cultures and Chemicals Two human colon...

... captured using a three-color cooled CCD camera (Photonic Science Ltd., UK) attached to a fluorescence microscope ( ... effects as a paradigm breaking evidence. Mutation Research/Fundamental and Molecular M...

Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes. Clinical care is complicated by variable age at onset and the wide range of severity of aortic features. The factors that modulate phenotypical severity, both among and within families, remain to be determined. The ...

Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. SAM domain, a protein-protein interaction module, is found in cytoplasmic signaling proteins and several transcriptional regulatory proteins which are involved in ...

Hypoxia-inducible factor (HIF) alpha, which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF-alpha is a transcription factor that modulates a wide range of processes, including erythropoiesis, angiogenesis, and cellular metabolism. We describe a family with erythrocytosis and a mutation ...

SUMMARYHypoxia-inducible factor (HIF) ?, which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF-? is a transcription factor that modulates a wide range of processes, including erythropoiesis, angiogenesis, and cellular metabolism. We describe a family with erythrocytosis and a mutation ...

Vitamin D-dependent rickets type 1 (VDDR-I) is caused by mutation in CYP27B1. The glycine residue at codon 102 is not conserved between human (G(102)) and rodent (S(102)). G102E mutation results in 80% reduction in its enzymatic activity but PolyPhen predicts benign change. It is not known whether G102S has any damaging effect on 1?-hydroxylase activity. ...

Genetic interactions represent the degree to which the presence of one mutation modulates the phenotype of a second mutation. In recent years, approaches for measuring genetic interactions systematically and quantitatively have proven to be effective tools for unbiased characterization of gene function and have provided valuable data ...

basis for congenital deafness [6], but adult-onset hearing loss is poorly understood despite its with mutations in mitochondrial genes, including mito- chondrial 12S ribosomal RNA, show greatly enhanced, and are influenced by nuclear genes [15]. Mutations in mitochondrial rRNA are consistent with a model

Research on this project has had as a major goal a combined ecologic-genetic investigation of somatic mutations in order to evaluate the impacts of certain changing environmental parameters. The ultimate aim, to better understand how such environmental-mu...

The capacity for phenotypic evolution is dependent upon complex webs of functional interactions that connect genotype and phenotype. Wrinkly spreader (WS) genotypes arise repeatedly during the course of a model Pseudomonas adaptive radiation. Previous work showed that the evolution of WS variation was explained in part by spontaneous mutations in wspF, a component of the ...

Drug resistance and poor virological responses are associated with well-characterized mutations in the viral reading frames that encode the proteins that are targeted by currently available antiretroviral drugs. An integrated system was developed that includes target gene amplification, DNA sequencing chemistry (TRUGENE HIV-1 Genotyping Kit), and hardware and interpretative ...

Drug resistance and poor virological responses are associated with well-characterized mutations in the viral reading frames that encode the proteins that are targeted by currently available antiretroviral drugs. An integrated system was developed that includes target gene amplification, DNA sequencing chemistry (TRUGENE HIV-1 Genotyping Kit), and hardware and interpretative ...

In support of the Space Station Freedom (SSF) Solar Dynamic Power Module effort, structural design studies were performed to investigate issues related to the design of the power module, its pointing capabilities, and the integration of the module into the SSF infrastructure. Of particular concern from a structural viewpoint are the ...

This document summarizes the equations and applications associated with the photovoltaic array performance model developed at Sandia National Laboratories over the last twelve years. Electrical, thermal, and optical characteristics for photovoltaic modules are included in the model, and the model is designed to use hourly solar resource and meteorological data. The versatility ...

BACKGROUND : Some mutations in the internal regions of exons occur within splicing enhancers and silencers, influencing the pattern of alternative splicing in the corresponding genes. To understand how these sequence changes affect splicing, we created a database of these mutations. FINDINGS : The Alternative Splicing Mutation Database ...

BackgroundSome mutations in the internal regions of exons occur within splicing enhancers and silencers, influencing the pattern of alternative splicing in the corresponding genes. To understand how these sequence changes affect splicing, we created a database of these mutations.FindingsThe Alternative Splicing Mutation Database (ASMD) ...

BackgroundMutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement.We screened 54 ARVC probands for mutations in desmocollin-2 (DSC2), the only desmocollin isoform expressed in ...

Mutations of genes associated with the mismatch repair mechanism and mutations of the APC gene are the most frequent causes of hereditary colorectal cancer. An iPLEX test combined with TaqMan genotyping assays was therefore developed to identify common recurrent mutations of those genes in the Polish population. We analyzed 349 DNA ...

What genotypic features explain the evolvability of organisms that have to accomplish many different tasks? The genotype of behaviorally complex organisms must encode modular neural architectures because neural modules dedicated to distinct tasks avoid neural interference, i.e., the arrival of conflicting messages for changing the value of connection weights during learning. ...

Design of the second generation photovoltaic concentrator module originally developed by Martin Marietta under Contract 46-3018 was improved. Module efficiency was improved from 14.4% to 15.5% and numerous detailed design enhancements were incorporated to facilitate fabrication and improve cost effectiveness. Sixty modules were ...

Recent advances in XCS technology have shown that self-adaptive mutation can be highly useful to speed-up the evolutionary progress in XCS. Moreover, recent publications have shown that XCS can also be successfully applied to challenging real-valued domains including datamining, function approximation, and clustering. In this paper, we combine these two advances and ...

The feasibility and accuracy of gene-specific molecular genetic diagnosis for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency were studied in a group of 24 pregnancies at 25% risk of carrying an affected fetus. Chorionic villus sampling was performed in the majority of cases. Southern blot analysis was carried out to identify deletions or other gross ...

Novel therapeutic agents targeting the epidermal growth factor receptor (EGFR) have improved outcomes for patients with colorectal carcinoma. However, these therapies are effective only in a subset of patients. Activating mutations in the KRAS gene are found in 30-40% of colorectal tumors and are associated with poor response to anti-EGFR therapies. Thus, KRAS ...

Despite progress in identification of deafness genes, clinical application has lagged due to the genetic heterogeneity of deafness. We designed and tested a comprehensive and simple diagnostic strategy to simultaneously detect deafness gene mutations based on a mutation/gene database followed by Invader assay screening of 41 known ...

In malaria parasites, mutations in two genes of folate biosynthesis encoding dihydrofolate reductase (dhfr) and dihydropteroate synthase (dhps) modify responses to antifolate therapies which target these enzymes. However, the involvement of other genes which modify the availability of exogenous folate, for example, has been proposed. Here, we used short-read whole-genome ...

In malaria parasites, mutations in two genes of folate biosynthesis encoding dihydrofolate reductase (dhfr) and dihydropteroate synthase (dhps) modify responses to antifolate therapies which target these enzymes. However, the involvement of other genes which modify the availability of exogenous folate, for example, has been proposed. Here, we used short-read whole-genome ...

The distribution of fitness effects of mutations is central to many questions in evolutionary biology. However, it remains poorly understood, primarily due to the fact that a fundamental connection that exists between the fitness of organisms and molecular properties of proteins encoded by their genomes is largely overlooked by traditional research approaches. Past efforts to ...

Hearing impairment is a frequent condition, and genes have an important role in its etiology. The majority of hearing loss occurs in non-syndromic form, with deafness being the only clinically recognizable feature. More than 60 nuclear genes or loci have been shown to be involved in non-syndromic hearing loss, but mutations in mitochondrial DNA also cause hearing impairment. ...

Time calibration procedures for streak cameras utilizing a modulated laser beam are described. The time calibration determines a writing rate accuracy of 0.15% with a rotating mirror camera and 0.3% with an image converter camera.

Stability of tokamak plasmas has been studied by the linear ideal magnetohydrodynamic stability code ERATO. A high accuracy mapping module which constructs a flux coordinate with arbitrary poloidal angle is developed, which guarantees the stability analys...

of Two Standard Solar Cell Modules Over a 21-year Period ............ 15 ..... on the horn of a nervous giraffe. A tow balloon tied to the ..... double check the accuracy of the GPS data. Using the descent vectors, ...

A test bench was designed and fabricated for the purpose of improving control of hot-spot test accuracy. Electrochemical corrosion research focused on corrosion mechanisms to which both crystalline and a-Si modules may be subjected in central station appl...

As discussed previously, the use of a single transmitter sphere yields limited accuracy. Consequently, a three transmitter module has been designed, tested and incorporated into a 1 inch diameter high density polyethylene sphere. Each transmitter broadcas...

This module is about a new method of predicting seasonal weather. The site describes the effects of El Nino on global weather and the accuracy of the new model. It includes links to classroom resources for a variety of weather-based units.

Carbon dioxide (CO2) sensors are often deployed in commercial buildings to obtain CO2 data that are used to automatically modulate rates of outdoor air supply. The goal is to keep ventilation rates at or above design requirements and to save energy by avo...

ABSTRACT The Space Interferometry Mission, scheduled for launch in 2008, is an optical stellar .... The FM modulator linearly sweeps the optical frequency 84 MHz in a triangle pattern for ..... light scanning interferometer. The stage has ...

arcminute-accuracy attitude information with over a 10-deg field of view. In- ... for example, in Global Positioning Systems (GPS) involves cross- ... The diode is DC-biased with 70 mA and modulated by a PRBS pattern ...

unprecedented measurement accuracy. At the end of its mission, the altitude of the ... field, the satellite-tether system experiences an ... (DAS) package is nearing completion. The tether survival module in DAS 2.0 provides a ...

The report describes a new magnetic tape recording system for general instrumentation use. The system uses a new type of modulation format and offers good performance at low cost. The system concepts are explored from a subsystem or 'block diagram' viewpo...

A d-c amplifier is described. Modulation is provided between a d-c signal and an alternating current to give an output signal proportional to the d- c signal. The circuit has high sensitivity and accuracy. (T.R.H.)

The theses is divided into 4 parts. Part 1 describes the high accuracy universal polarimeter. Part 2, titled Incommensurate crystal optics, is subdivided as follows: An interpretation for the optical activity in incommensurately modulated (N(CH3)4)2ZnCl4 ...

Sources of error in Analytical Electron Spin Resonance Spectrometry are discussed. Errors due to gain of the lock in amplifiers and modulation amplitude settings can be reduced if the settings are properly calibrated or if the attenuators are rebuilt. It ...

We describe a tracking detector designed as an assembly of multidrift tube modules; because of its fast time-resolution and good position accuracy, coupled with high reliability, the device seems suitable for operation as vertex detector at a collider, an...

The Orion Divalent Cation Specific Ion Electrode No. 93-32 was evaluated for suitability in monitoring or in-situ marine applications as a magnesium ion sensor. The electrode was tested with three separate modules for the following parameters: accuracy, precision, temperature dep...

The proposed device consists of an RC circuit connected to the emitter of a controlled rectifier and load. To improve decoding accuracy, a rectifier is provided for the testing and recharge of the storage capacitor, a pulse transformer is connected to the...

Differential GPS, or DGPS, is a medium frequency radio system that is used worldwide for the broadcast of differential corrections to users to improve the accuracy and integrity of the GPS. This communications system works by digitally modulating radio si...

A pulse-height analyzer, which gives the energy distribution of radioactive emission with accuracy and speed by the use of a frequency-modulating- type positive-bias multivibrator, is developed. (T.F.H.)

This benchmarking study is preliminary because the HAZUS-MH MR1 flood module was ... spatial, and geopositional accuracy assessment of OrbView-3 imagery ... Tasseled Cap based model was found to be the best method for slide detection. ...

The frequency of nine different mutated alleles known to occur in the glucocerebrosidase gene was determined in 247 Gaucher patients, of whom 176 were of Jewish extraction, 2 were Jewish with one converted parent, and 69 were of non-Jewish origin. DNA was prepared from peripheral blood, active glucocerebrosidase sequences were amplified by using the PCR technique, and the ...

Germline and somatic PTEN mutations are found in Cowden syndrome (CS) and multiple sporadic malignancies, respectively. PTEN function appears to be modulated by subcellular compartmentalization, and mislocalization may affect function. We have shown that cellular ATP levels affect nuclear PTEN levels. Here, we examined the ATP-binding capabilities of PTEN ...

BackgroundKnockdown resistance (kdr) caused by a single base pair mutation in the sodium channel gene is strongly associated with pyrethroid insecticide resistance in Anopheles gambiae in West-Central Africa. Recently, various molecular techniques have been developed to screen for the presence of the kdr mutations in vector populations with varying levels ...

The outer vestibule of voltage-gated Na⁺ channels is formed by extracellular loops connecting the S5 and S6 segments of all four domains (�P-loops�), which fold back into the membrane. Classically, this structure has been implicated in the control of ion permeation and in toxin blockage. However, conformational changes of the outer vestibule may also result in ...

AbstractAtomic force microscopy and surface force apparatus measurements determined the functional impact of the cadherin point mutation W2A and domain deletion mutations on C-cadherin binding signatures. Direct comparison of results obtained using both experimental approaches demonstrates that C-cadherin ectodomains form multiple independent bonds that ...

Congenital hearing loss (HL) is the most common sensory disorder in humans, affecting one in 1000 infants at birth. A high degree of genetic heterogeneity makes it difficult to screen for mutations in all known deafness genes in clinical applications. We have improved a genotyping microarray using the multiplex PCR-based allele-specific primer extension (ASPE) reaction and ...

Conformation-sensitive gel electrophoresis (CSGE) has been introduced as the most reliable method for the screening of large and multi-exon genes because of its simplicity, sensitivity and specificity. Based on heteroduplex formation and with the use of mildly denaturing solvents, it allows detection of single-base mutations with accuracy. This is ...

BACKGROUND: Thyroid fine-needle aspiration (FNA) is the primary diagnostic tool used for the evaluation of thyroid nodules. Although most aspirates provide diagnostic cytology, some are classified as indeterminate. The aim of this study was to determine whether the second review of FNA cytology can improve the diagnostic values and to assess the role of proto-oncogene B-Raf (BRAF) ...

Given the DNA-binding specificities (motifs) of one or more transcription factors, an important bioinformatics problem is to discover significant clusters of binding sites for the transcription factors(s). Such clusters often correspond to cis-regulatory modules mediating regulation of an adjacent gene. In earlier work, we developed the Stubb program that uses a probabilistic ...

We investigated the Harman response R = f( t) (electric resistance R versus time t) from separate stages of two-stage thermoelectric modules with various numbers of elementary thermocouples in a stage. Some special cases were considered when the thermal flow in stages was either coincident or opposed. It was shown that the Harman response from the first stage of ...

The current modulation of a two-section semiconductor laser is first reviewed analytically using a well-known, closed-form, modulation expression. A system of traveling-intensity equations is then used to investigate spatial effects in these lasers including cavity layout and the role played by cavity length. The numerical simulations verify the ...

A real-time modulation control system was developed for studying the effectiveness of modulated Electron Cyclotron Current Drive (ECCD) on the stabilization of Neoclassical Tearing Modes (NTMs). The phase and duty cycle tracking was enabled with high accuracy even if the NTM frequency varied during ECCD. A characteristic of an anode ...

A real-time modulation control system was developed for studying the effectiveness of modulated Electron Cyclotron Current Drive (ECCD) on the stabilization of Neoclassical Tearing Modes (NTMs). The phase and duty cycle tracking was enabled with high accuracy even if the NTM frequency varied during ECCD. A characteristic of an anode ...

The rating and modeling of photovoltaic PW module performance has been of concern to manufacturers and system designers for over 20 years. Both the National Renewable Energy Laboratory (NREL) and Sandia National Laboratories (SNL) have developed methodologies to predict module and array performance under actual operating conditions. This paper compares the ...

A Two-Modulator Generalized Ellipsometer (2-MGE) has been extremely useful in characterizing optical properties of uniaxial bulk materials, thin films and diffraction gratings. The instrument consists of two polarizer-photoelastic modulator pairs, one operating as the polarization state generator and the other as the polarization state detector. Each ...

The performance of a frequency-modulated continuous-wave (FMCW) semiconductor laser radar has been examined. Frequency modulation (linear chirp) has been studied experimentally in detail. To create a linear frequency sweep, we modified the modulating function according to the measured frequency response of the laser, using an arbitrary ...

An important force in evolutionary selection may be informational efficiency, which results in a balance between the energy expended to maintain a high level of fidelity and the energy lost from errors or mutations in the production of defective offspring. The accuracy of DNA replication may be limited by the average accuracy of ...

An increasing number of mutations have been identified in genes involved in cardiac disorders which has led to novel insights in the pathophysiology of inherited cardiac diseases. As a result of these findings, techniques specialised in automated high-throughput analysis are implemented to handle the increasing number of diagnostic genetic requests. Denaturing high-performance ...

Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, a dominantly inherited disorder of connective tissue that primarily involves the cardiovascular, ocular, and skeletal systems. There is a remarkable degree of variability both within and between families with Marfan syndrome, and FBN1 mutations have also been found in a range of other ...

SummaryThe espins are actin-bundling proteins of brush border microvilli and Sertoli cell-spermatid junctions. We have determined that espins are also present in hair cell stereocilia and have uncovered a connection between the espin gene and jerker, a recessive mutation that causes hair cell degeneration, deafness and vestibular dysfunction. The espin gene maps to the same ...

Congenital long QT syndrome is a rare inherited condition characterized by prolongation of action potential duration (APD) in cardiac myocytes, prolongation of the QT interval on the surface electrocardiogram (ECG), and an increased risk of syncope and sudden death due to ventricular tachyarrhythmias. Mutations of cardiac ion channel genes that affect repolarization cause the ...

While pleiotropic adaptive mutations are thought to be central for evolution, little is known on the downstream molecular effects allowing adaptation to complex ecologically relevant environments. Here we show that Escherichia coli MG1655 adapts rapidly to the intestine of germ-free mice by single point mutations in EnvZ/OmpR two-component signal ...

Modulation of activation kinetics by divalent ions is one of the characteristic features of Eag channels. Here, we report that Mg(2+)-dependent deceleration of Eag channel activation is significantly attenuated by a G297E mutation, which exhibits a gain-of-function phenotype in Drosophila by suppressing the effect of shaker mutation on ...

Disease severity correlates with the level of correctly spliced RNA transcribed from genes carrying splicing mutations and with the ratio of alternatively spliced isoforms. Hence, a role for splicing regulation as a genetic modifier has been suggested. Here we discuss recent experiments that provide direct evidence that changes in the level of splicing factors ...

The light-dependent regulation of chloroplast ATP synthase activity depends on an intricate but ill-defined interplay between the proton electrochemical potential across the thylakoid membrane and thioredoxin-mediated redox modulation of a cysteine bridge located on the ATP synthase gamma-subunit. T...

Translational readthrough of nonsense codons is seen not only in organisms possessing one or more tRNA suppressors but also in strains lacking suppressors. Amber suppressor tRNAs have been reported to suppress only amber nonsense mutations, unlike ochre suppressors, which can suppress both amber and ochre mutations, essentially due to wobble base pairing. ...

Mutations in the BRAF gene are found in the majority of cutaneous malignant melanomas and subsets of other tumors. These mutations lead to constitutive activation of BRAF with increased downstream ERK (extracellular signal-regulated kinase) signaling; therefore, the development of RAF kinase inhibitors for targeted therapy is being actively pursued. A ...

Large conductance Ca²⁺-activated K⁺ (BK) channels modulate many physiological processes including neuronal excitability, synaptic transmission and regulation of myogenic tone. A gain-of-function (E/D) mutation in the pore-forming ? subunit (Slo1) of the BK channel was recently identified and is linked to human ...

We present a Rosetta full-atom framework for predicting and designing the non-canonical motifs that define RNA tertiary structure, called FARFAR (Fragment Assembly of RNA with Full Atom Refinement). For a test set of thirty-two 6-to-20-nucleotide motifs, the method recapitulated 50% of the experimental structures at near-atomic accuracy. Additionally, design calculations ...

BackgroundKRAS mutational analysis is the standard of care prior to initiation of treatments targeting the epidermal growth factor receptor (EGFR) in patients with metastatic colorectal cancer. Sensitive methods are required to reliably detect KRAS mutations in tumor samples due to admixture with non-mutated cells. Many laboratories ...

Reliability of microbial (starter) strains in terms of quality, functional properties, growth performance, and robustness is essential for industrial applications. In an industrial fermentation process, the bacterium should be able to successfully withstand various adverse conditions during processing, such as acid, osmotic, temperature, and oxidative stresses. Besides the evolved defense ...

OBJECTIVEInactivating mutations in glucokinase (GCK) cause mild fasting hyperglycemia. Identification of a GCK mutation has implications for treatment and prognosis; therefore, it is important to identify these individuals. A significant number of patients have a phenotype suggesting a defect in glucokinase but no abnormality of GCK. We hypothesized that ...