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2,336,800 | A computational resource for the prediction of peptide binding to Indian rhesus macaque MHC class I molecules. | Non-human primates, in general, and Indian rhesus macaques, specifically, play an important role in the development and testing of vaccines and diagnostics destined for human use. To date, several frequently expressed macaque MHC molecules have been identified and their binding specificities characterized in detail. He... |
2,336,801 | Alpha-1-antichymotrypsin (ACT or SERPINA3) polymorphism may affect age-at-onset and disease duration of Alzheimer's disease. | In addition to genetic effects on disease risk, age-at-onset (AAO) of Alzheimer's disease (AD) is also genetically controlled. Using AAO as a covariate, a linkage signal for AD has been detected on chromosome 14q32 near the alpha1-antichymotrypsin (ACT) gene. Previously, a signal peptide polymorphism (codon -17A>T) ... |
2,336,802 | Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias. | This work describes the reasons and emotional responses of healthy descendants after counseling for presenilin mutations in early-onset familial Alzheimer's disease (EOFAD), tau mutations in familial frontotemporal dementia (FTD), and prion mutations in fatal familial insomnia (FFI). A multidisciplinary protocol follow... |
2,336,803 | Positive genetic correlations among major life-history traits related to ecological success in the aphid Myzus persicae. | Life-history theory is based on the assumption that evolution is constrained by trade-offs among different traits that contribute to fitness. Such trade-offs should be evident from negative genetic correlations among major life-history traits. However, this expectation is not always met. Here I report the results of a ... |
2,336,804 | Prevalence of hereditary breast/ovarian carcinoma risk in patients with a personal history of breast or ovarian carcinoma in a mammography population. | Identifying BRCA1 and BRCA2 mutation carriers is increasingly important as new management options show promise in decreasing morbidity and mortality in these women. The authors sought to determine the prevalence of family histories suggestive of a hereditary breast carcinoma syndrome in a cohort of patients with a pers... |
2,336,805 | The incidence of Lynch syndrome. | Lynch syndrome (LS) here is defined as carriership of a deleterious mismatch repair (MMR) gene mutation. By screening for MMR gene mutations in unselected colorectal or endometrial cancer patients, it was found that the prevalence of LS in colorectal and endometrial cancer patients is 1-3%. On extrapolation to the enti... |
2,336,806 | Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G>A) is the most common variant in the Cambodian population. | We conducted a survey of malaria diagnoses and glucose-6-phosphate dehydrogenase (G6PD) testing in remote areas of Cambodia. Blood specimens from 670 people were collected by the finger-prick method. Of these people, 24.9% were found to have malaria, and 7.0% of people were G6PD deficient. In the Khmer, the largest eth... |
2,336,807 | Transgenic watermelon rootstock resistant to CGMMV (cucumber green mottle mosaic virus) infection. | In watermelon, grafting of seedlings to rootstocks is necessary because watermelon roots are less viable than the rootstock. Moreover, commercially important watermelon varieties require disease-resistant rootstocks to reduce total watermelon yield losses due to infection with viruses such as cucumber green mottle mosa... |
2,336,808 | History of genetic disease: the molecular genetics of Huntington disease - a history. | The Huntington disease gene was mapped to human chromosome 4p in 1983 and 10 years later the pathogenic mutation was identified as a CAG-repeat expansion. Our current understanding of the molecular pathogenesis of Huntington disease could never have been achieved without the recent progress in the field of molecular ge... |
2,336,809 | An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus? | The autosomal dominant spinocerebellar ataxias (ADCAs) represent a growing and heterogeneous disease phenotype. Clinical characterization of a three-generation Filipino family segregating a dominant ataxia revealed cerebellar signs and symptoms. After elimination of known spinocerebellar ataxia (SCA) loci, a genome-wid... |
2,336,810 | Initial licking responses of mice to sweeteners: effects of tas1r3 polymorphisms. | Recent studies have established that the T1R3 receptor plays a central role in the taste-mediated ingestive response to sweeteners by mice. First, transgenic mice lacking the gene for T1R3, Tas1r3, show dramatically reduced lick responsiveness to most sweeteners. Second, strains with the taster allele of Tas1r3 (T stra... |
2,336,811 | Evaluation of candidate genes in the absence of positional information: a poor bet on a blind dog! | More than 350 inherited diseases have been reported in dogs and at least 50% of them have human counterparts. To remove the diseases from dog breeds and to identify canine models for human diseases, it is necessary to find the mutations underlying them. To this end, two methods have been used: the functional candidate ... |
2,336,812 | Atlas: a java-based tool for managing genotypes. | With the exponential increase in genotyping capability, it is fundamental to check data consistency and improve genotype management. Atlas is a Java-based application for managing genotypes that also provides a series of tools useful in traceability, parentage testing, and identification, as well as pedigree and marker... |
2,336,813 | [Genetic polymorphism of FIBRA,DHFRP2 and ACTBP2 and their forensic application in Yunnan Han population]. | To investigate the genetic polymorphism of FIBRA,DHFRP2 and ACTBP2 in Yunnan Han population as well as their application in forensic science, EDTA-blood specimens were collected from 200 healthy individuals. The DNA were extracted either by the Chloro form, phenol method or by the Chelex-100 method. The PCR products we... |
2,336,814 | Association study of mast cell chymase polymorphisms with atopy. | Atopic disorders are the result of complex interactions between genetic and environmental factors. Associations analyses between the promoter polymorphism rs1800875 in the mast cell chymase gene (CMA1) and atopy-related phenotypes have yielded inconsistent results.</AbstractText>We sequenced the CMA1 locus in 24 unrela... |
2,336,815 | [Chromosome STR genetic markers in paternity identification]. | To explore the application of paternity identification by chromosome STR genetic markers (short tandem repeat).</AbstractText>The paternity testings in 468 cases were routinely carried out using amphibian STR Profiler plus and Cofiler PCR amplification kits. When STR exclusions were found, HLA system and other blood gr... |
2,336,816 | Relative values. | As knowlege about the links between genes and cancer expands, those at risk need proper assessment and reliable information. Nurses on Teesside are providing both. |
2,336,817 | Evolutionary conservation of bacterial operons: does transcriptional connectivity matter? | In the literature, it has been frequently suggested that the connectivity of a protein, i.e., the number of proteins with which it interacts, is inversely correlated with the rate of evolution. We attempted to extrapolate from proteins to operons by testing the hypothesis that operons with high transcriptional connecti... |
2,336,818 | Understanding and treating neurodegeneration: insights from the flies. | Drosophila has recently emerged as a model system for studying mechanisms of neurodegeneration. Genetic models for most of the major neurodegenerative diseases, including Alzheimer's disease (AD), Parkinson's disease (PD), polyglutamine diseases, and tauopathies, have been successfully established. Pharmacological mode... |
2,336,819 | Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers. | Cystic fibrosis (CF) is a recessive disease caused by mutations of the CF transmembrane conductance regulator (CFTR) gene. The risk of idiopathic chronic pancreatitis (ICP) is increased in individuals who have CFTR genotypes containing a CF-causing mutation plus a second pathogenic allele. It is unknown whether the ris... |
2,336,820 | Mannose binding lectin acute phase activity in patients with severe infection. | Mannose Binding Lectin (MBL) is a liver derived, circulating plasma protein that plays a pivotal role in innate immunity. MBL functions as a pathogen recognition molecule, opsonising organisms and initiating the complement cascade. MBL deficiency arising from mutations and promoter polymorphisms in the MBL2 gene is com... |
2,336,821 | CARD15/NOD2 is not a predisposing factor for necrotizing enterocolitis. | Multiple factors are incriminated in the etiopathogeny of necrotizing enterocolitis (NEC) in premature infants, including oral feeding, vascular abnormalities, increase in pro-inflammatory cytokines, and inappropriate response of the intestinal barrier to bacterial microflora. CARD15/NOD2 is a gene recently recognized ... |
2,336,822 | DXS6797 contains two STRs which can be easily haplotyped in both sexes. | DXS6797 is a complex X-chromosomal locus which contains two variable short tandem repeats (STRs) (motif ATCT) separated by 128 non-polymorphic nucleotides. The two STRs can be cleaved apart by Taq I digestion. Conventionally, DXS6797 is typed by measuring the overall amplicon length, providing only eight alleles [polym... |
2,336,823 | Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis. | Around 80% of Rett syndrome (RS) cases have a mutation or deletion within the coding sequence of the MeCP2 gene. The other RS patients remain genetically undiagnosed. A significant fraction (10-15%) of disease-causing mutations in humans, affect pre-mRNA splicing. Two potential splice mutations were found in the MeCP2 ... |
2,336,824 | Coeliac disease diagnosed at Starship Children's Hospital: 1999-2002. | To retrospectively review the clinical presentation and serological testing of children diagnosed with coeliac disease at Starship Children's Hospital (Auckland, New Zealand) over a 4-year period between January 1999 and December 2002.</AbstractText>A review of Starship Hospital medical records of all children diagnose... |
2,336,825 | The right to remain in ignorance about genetic information--can such a right be defended in the name of autonomy? | Within the field of medicine, it has become widely accepted that respecting the autonomy of individuals justifies their right to know. More recently, commentators have asked whether such respect also justifies an individual's right not to know; that is, their right to remain in ignorance. In this paper, I examine what ... |
2,336,826 | Aldehyde dehydrogenase (ALDH2) activity in hepatoma cells is reduced by an adenoviral vector coding for an ALDH2 antisense mRNA. | Individuals carrying the Glu487Lys coding mutation in the gene for mitochondrial aldehyde dehydrogenase (ALDH2) have a diminished capacity to metabolize acetaldehyde. This deficiency leads to increases in blood acetaldehyde levels when they consume ethanol, which results in an aversion to alcohol and in marked protecti... |
2,336,827 | Subtelomeric rearrangements in idiopathic mental retardation. | To estimate the frequency of subtelomeric rearrangements in patients with sporadic and non-syndromic idiopathic mental retardation (IMR).</AbstractText>A total of 18 IMR patients were taken for the study. Selection criteria included no known syndromes or chromosomes abnormalities and known causes of IMR. All patients s... |
2,336,828 | The new Italian law on assisted reproduction technology (Law 40/2004). | The Italian parliament passed the law on assisted reproduction after a heated debate. The promulgation of this law (Law 40/2004) is the end point of a long and troubled journey that has seen many bills come and go, all of which have failed. The law consists of a whole set of regulations that will have a great impact on... |
2,336,829 | Firing up the nature/nurture controversy: bioethics and genetic determinism. | It is argued here that bioethicists might inadvertently be promoting genetic determinism: the idea that genes alone determine human traits and behaviours. Discussions about genetic testing are used to exemplify how they might be doing so. Quite often bioethicists use clinical cases to support particular moral obligatio... |
2,336,830 | Noninvasive determination of fetal RHD status by examination of cell-free DNA in maternal plasma. | Cell-free fetal DNA in maternal plasma opens the way for routine risk-free diagnosis of fetal D status of D- mothers. The focus was on accuracy of RHD typing and confirmation of fetal DNA in maternal plasma while RHD was not detected.</AbstractText>Plasma DNA was extracted (by manual and/or automatic method) from 255 D... |
2,336,831 | Bovine spinal muscular atrophy: AFG3L2 is not a positional candidate gene. | Bovine spinal muscular atrophy (BSMA) is a neurodegenerative disorder, which is widespread in Brown Swiss cattle. Main symptoms of the disease are muscular atrophy and recumbency. Affected calves die within few days or weeks. BSMA seems to be inherited as a recessive trait and the disease allele appears to have a commo... |
2,336,832 | Genome-wide screening for genetic changes in a matched pair of benign and prostate cancer cell lines using array CGH. | Copy number alterations in a matched pair of benign epithelial and prostate cancer cell lines derived from the same patient were assessed using array-based comparative genomic hybridisation (aCGH). The cancer cell line showed a gain of chromosome 7, deletion of chromosome 8, gains (including high level) and losses on c... |
2,336,833 | Use of Intron 1 and 22 inversions and linkage analysis in carrier detection of hemophilia A in Indians. | Hemophilia A is an X-linked recessively inherited bleeding disorder characterized by deficiency of procoagulant factor VIII (FVIII).</AbstractText>Sixty unrelated hemophilia A patients and their family members have undergone tests for carrier detection by linkage analysis using the polymorphic markers Bcl I, Xba I and ... |
2,336,834 | Familial non-BRCA1/BRCA2-associated breast cancer. | Multidisciplinary breast-cancer teams commonly encounter women, both premenopausal and postmenopausal, presenting with breast cancer who also have a family history of this disease. Much of the published work on management of hereditary breast cancer focuses on women with known mutations in BRCA1 and BRCA2, in whom high... |
2,336,835 | [Recombinant adenovirus mediated hVEGF165 gene transfer promotes recovery of hematopoiesis in post-BMT mice]. | To investigate the effects of vascular endothelial growth factor (VEGF) on the recovery of hematopoiesis in post-BMT mice, the recombinant adenovirus Ad-EGFP/hVEGF(165) was injected into syngeneic BMT BALB/c mice via the tail vein. At day 10, 20, 30 after BMT, the in vivo expression of hVEGF(165) was measured. At the s... |
2,336,836 | Cost-benefit, cost-effectiveness and cost-utility analyses of periodontitis prevention. | The aim of this paper was to determine whether there is evidence that periodontitis prevention is economically justified.</AbstractText>The characteristics of economic assessments such as cost-benefit, cost-effectiveness and cost-utility analyses were first derived from the literature on health economy. A literature se... |
2,336,837 | Medical nanotechnology: shortening clinical trials and regulatory pathways? | Nanotechnology, the science of creating structures, devices, and systems with a length scale of approximately 1-100 nanometers, is poised to have a revolutionary effect on biomedical research and clinical science. By operating at the same scale as most biomacromolecules, nanoscale devices can afford a detailed view of ... |
2,336,838 | Hereditary non-polipomatous colorectal cancer: hereditary predisposition, diagnosis and prevention. | Colorectal cancer is the third in frequency and the second in mortality in developed countries. In Brazil, it is among the six more common malignant neoplasias. About 20% of colorectal tumors have some hereditary component.</AbstractText>This study presents a review of genetic and clinic aspects, as well as diagnosis a... |
2,336,839 | A noninvasive genetic screening test to detect oral preneoplastic lesions. | Early diagnosis of oral squamous cell carcinoma (OSCC) may have a major impact on survival and quality of life. Recent studies have shown that the majority of OSCC is preceded by precursor lesions characterized by genetic alterations. The aim of this study was to develop and evaluate a noninvasive screening test for or... |
2,336,840 | Association between polymorphisms in the progesterone receptor gene and endometriosis. | The progesterone receptor (PR) is a candidate gene for the development of endometriosis, a complex disease with strong hormonal features, common in women of reproductive age. We typed the 306 base pair Alu insertion (AluIns) polymorphism in intron G of PR in 101 individuals, estimated linkage disequilibrium (LD) betwee... |
2,336,841 | Capillaroscopy of the dorsal skin of the hands in hereditary hemorrhagic telangiectasia. | Cutaneous telangiectases are manifestations of hereditary hemorrhagic telangiectasia (HHT), a dominantly inherited disorder. Telangiectases have been studied by skin biopsy, and recently by nailfold capillaroscopy.</AbstractText>To confirm the diagnostic role of nailfold capillaroscopy, and assess the value of skin cap... |
2,336,842 | Highly parallel microbial diagnostics using oligonucleotide microarrays. | Oligonucleotide microarrays are highly parallel hybridization platforms, allowing rapid and simultaneous identification of many different microorganisms and viruses in a single assay. In the past few years, researchers have been confronted with a dramatic increase in the number of studies reporting development and/or i... |
2,336,843 | Genetic testing for pharmacogenetics and its clinical application in drug therapy. | There is wide individual variation in drug responses and adverse effects. As the main causes of the variation in drug responses, attention has focused on the genetic polymorphisms that encode metabolic enzymes regulating pharmacodynamics and receptors modulating the affinity with the responsive sites. Tailor-made drug ... |
2,336,844 | Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program. | To determine the relationship between ethnicity and mutations in the GJB2 and GJB6 genes in multi-cultural patients enrolled in a Canadian paediatric Cochlear Implant Program.</AbstractText>Blood was analyzed from 65 paediatric cochlear implant users by direct sequencing of the coding region and intron/exon boundaries ... |
2,336,845 | Complex genetics of glaucoma susceptibility. | Glaucoma describes a group of diseases that kill retinal ganglion cells. There are different types of glaucoma, and each appears to be genetically heterogeneous. Different glaucoma genes have been identified, but these genes account for only a small proportion of glaucoma. Most glaucoma cases appear to be multifactoria... |
2,336,846 | Estimating the attitude of immigrants toward primary prevention of the hemoglobinopathies. | We conducted population specific confidential enquiries among immigrants who had never experienced hemoglobinopathies, to study the reliability of this approach in estimating the wish for primary prevention by prenatal diagnosis and selective abortion.</AbstractText>We collected data from Surinamese Hindustanis (n = 11... |
2,336,847 | Genotype-phenotype correlation of mouse pde6b mutations. | To identify the underlying molecular defects causing retinal degeneration in seven N-ethyl-N-nitrosourea (ENU) induced mutant alleles of the Pde6b gene and to analyze the timescale of retinal degeneration in these new models of retinitis pigmentosa.</AbstractText>Conformation sensitive capillary electrophoresis and DNA... |
2,336,848 | Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. | To identify the gene responsible for a complex ocular phenotype of late-onset macular degeneration, long anterior zonules (LAZ), and elevated intraocular pressure (IOP) and to study its expression.</AbstractText>Ocular examination, visual field, fluorescein angiography, and electrophysiology testing were performed. One... |
2,336,849 | Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. | To develop and apply microarray-based resequencing technology to detect sequence alterations in multiple autosomal recessive retinal disease genes on a single high-throughput platform.</AbstractText>Oligonucleotides corresponding to both strands of the target exons and the flanking intron sequences of 29,214 bp from 11... |
2,336,850 | Different HLA class IA region complotypes for HLA-A29.2 and -A29.1 antigens, identical in birdshot retinochoroidopathy patients or healthy individuals. | Birdshot retinochoroidopathy (BSCR) is a rare posterior uveitis characterized by distinctive, multiple, hypopigmented choroidal and retinal lesions. At least 96% of patients, if not all, share the major histocompatibility antigen HLA-A29. Although it was hypothesized earlier that more frequently the A*2902 subtype was ... |
2,336,851 | Genome-wide analyses demonstrate novel loci that predispose to drusen formation. | To test whether genes for drusen formation are independent of age-related macular degeneration (AMD) pathogenesis.</AbstractText>A genome-wide model-free linkage analysis was performed, using two semiquantitative drusen traits, size and type, on two sets of data: (1) 325 individuals (225 sib pairs) from the Beaver Dam ... |
2,336,852 | Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. | Leber congenital amaurosis (LCA) is an early-onset inherited disorder of childhood blindness characterized by visual impairment noted soon after birth. Variants in at least six genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, and RPGRIP1) have been associated with a diagnosis consistent with LCA or early-onset retinitis pigment... |
2,336,853 | PAWE-3D: visualizing power for association with error in case-control genetic studies of complex traits. | A website that plots power and sample size calculations over a range of up to eight parameters (including diagnostic misclassification error parameters) for two commonly used statistical tests of genetic association, the linear trend test and the genotypic test of association.</AbstractText>This method is made availabl... |
2,336,854 | Preimplantation genetic diagnosis: the ethics of intermediate cases. | According to the current guiding principle regarding preimplantation genetic diagnosis (PGD), the technique should focus on the diagnosis of genetic defects which (may) affect the health of this particular potential child--the so-called 'medical model'. I argue in favour of a more permissive view, also allowing PGD of ... |
2,336,855 | The Y chromosome gr/gr subdeletion is associated with male infertility. | Men with Y chromosome (Yq) AZFc deletions lack all copies of the DAZ gene and have severe spermatogenic failure. A recently described gr/gr subdeletion of AZFc removes two of four copies of DAZ. To better understand the relative frequencies of AZFc and gr/gr deletions and their associated phenotypes, we analysed two la... |
2,336,856 | The p53 codon 72 polymorphism and risk of high-grade cervical intraepithelial neoplasia. | The Arg/Arg genotype versus Arg/Pro or Pro/Pro at codon 72 of the p53 gene has been implicated in increasing susceptibility of the cervix to human papillomavirus (HPV) infection and thus altering cancer risk. However, research on this topic has been contentious, which prompted us to carry out a case-control study in th... |
2,336,857 | A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy. | Aminoglycoside antibiotics have been found to suppress nonsense mutations located in the defective dystophin gene in mdx mice, suggesting a possible treatment for Duchenne muscular dystrophy (DMD). However, it is very difficult to find patients that are applicable for this therapy, because: (1) only 5-13% of DMD patien... |
2,336,858 | Identification of methicillin-resistant Staphylococcus aureus (MRSA): Comparison of a new molecular genetic test kit (GenoType MRSA) with standard diagnostic methods. | Results obtained from 188 isolates of staphylococci using standard diagnostic methods for identifying MRSA were compared with those achieved with a newly available molecular genetic test kit, the GenoType, Version 1, MRSA (Hain Lifescience GmbH, Nehren, Germany). The GenoType MRSA detects the mecA gene and, in addition... |
2,336,859 | [More hereditary intestinal cancer can be detected if patients with colorectal carcinoma that are selected by the pathologist are examined for microsatellite instability]. | To determine whether an investigation of microsatellite instability (MSI) in patients with colorectal carcinoma that have been selected by the pathologist could increase the number of detected families with hereditary non-polyposis colorectal carcinoma (HNPCC).</AbstractText>Prospective inventory.</AbstractText>Patholo... |
2,336,860 | Testing association and linkage using affected-sib-parent study designs. | We have developed a method for jointly testing linkage and association using data from affected sib pairs and their parents. We specify a conditional logistic regression model with two covariates, one that quantifies association (either direct association or indirect association via linkage disequilibrium), and a secon... |
2,336,861 | Genetic diversity and the evolutionary history of plant immunity genes in two species of Zea. | Plant pathogenesis-related genes (PR genes) code for enzymes, enzyme inhibitors, and other peptides that confer resistance to pathogens and herbivores. Although several PR genes have been the subject of molecular population genetic analyses, a general understanding of their long-term evolutionary dynamics remains incom... |
2,336,862 | [A linkage map of mirosatellite on chromosome 1 in Liangshan semi-wool sheep]. | The 9 microsatellite markers on Chromosomes 1 were used to construct a linkage map of Liangshan semi-wool sheep with a 387 members half-sib pedigrees after paternity testing. The results were as follows: the number of alleles for 9 markers was from 5 to 15; the heterozygosity was from 0.202 to 0.831, the average hetero... |
2,336,863 | [Generation of RHD-CE(2-9)-D allele by gene conversion in cis]. | Previously a few Rh-negative individuals in Caucasian and Chinese were found existing exons 1 and 10 of RHD through genomic DNA testing. The molecular mechanisms, however, remain disputed. In this study, 2 individuals carrying RHD positive, D antigen negative allele (with exon 1 and 10 of RHD) and their mRNA were inves... |
2,336,864 | [A family with nonsyndromic hearing impairment caused by intermarry]. | Deafness is the most prevalent sensory system impairment in human, about 70 % of genetic deafness belongs to nonsyndromic hearing impairment. It was estimated that the total number of genes involved in nonsyndromic hereditary deafness was over 100. So far, approximate 80 loci have been mapped to human chromosome, and 2... |
2,336,865 | Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes. | Autosomal Dominant Osteopetrosis type II (ADO2) is a heritable osteosclerotic disorder that results from heterozygous mutations in the ClCN7 gene. Analysis of ADO2 in our pedigrees indicates that the penetrance is 66%, with a highly variable phenotype.</AbstractText>To identify genes that modify disease status, we perf... |
2,336,866 | Detecting deletions in families affected by a dominant disease by use of marker data. | A method of testing for whether inherited deletions are a cause of a single-locus dominant disease was derived, involving analysis of the marker segregation within the pedigree of a single family that segregates for the disease. It is shown that markers can be used to test deductively for the presence of an inherited d... |
2,336,867 | Evaluation of Nyholt's procedure for multiple testing correction. | A simple method for accounting efficiently for multiple testing of many SNPs in an association study was recently proposed by Nyholt, but its performance was not extensively evaluated. The method involves estimating an 'effective number' of independent tests and then adjusting the smallest observed p value using Sid&#x... |
2,336,868 | Finding fibrosis genes: the lung. | Many people are exposed to environmental risk factors for fibrosis, yet only a subset go on to develop disease. It is likely that a number of tissue-specific disease genes determine the path an individual will follow upon exposure to an environmental agent, and that individuals who carry certain combinations of these g... |
2,336,869 | Heterozygous insertions alter crossover distribution but allow crossover interference in Caenorhabditis elegans. | The normal distribution of crossover events on meiotic bivalents depends on homolog recognition, alignment, and interference. We developed a method for precisely locating all crossovers on Caenorhabditis elegans chromosomes and demonstrated that wild-type animals have essentially complete interference, with each bivale... |
2,336,870 | Impact of teenage oral contraceptive use in a population-based series of early-onset breast cancer cases who have undergone BRCA mutation testing. | Oral contraceptive (OC) use in young women has been associated with an increased risk of breast cancer. This matched case-control study aims to elucidate the combined effects of OC use and genetic factors in a population-based series of BRCA1/2 mutation-tested early-onset breast cancers. A first invasive breast cancer ... |
2,336,871 | Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA. | Mucolipidosis types II and III are autosomal recessive inherited diseases caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1 phosphotransferase (GlcNAc-phosphotransferase), which adds phosphate to function as a recognition marker for the uptake and transport of lysosomal enzymes. We investigated mutat... |
2,336,872 | Survival analysis of presumptive prognostic markers among oligodendrogliomas. | Allelic losses of 1p and 19q arms correlate with the oligodendroglial phenotype as well as with sensitivity to radiotherapy and chemotherapy. Furthermore, the DNA repair gene, methylguanine methyltransferase (MGMT), is diminished in 80% of oligodendroglial tumors and represents a possible mechanism for this therapeutic... |
2,336,873 | Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. | The relationships between mismatch repair (MMR) protein expression, microsatellite instability (MSI), family history, and germline MMR gene mutation status have not been studied on a population basis.</AbstractText>We studied 131 unselected patients with colorectal cancer diagnosed younger than age 45 years. For the 10... |
2,336,874 | Nocturnal sleep apnea/hypopnea is associated with lower memory performance in APOE epsilon4 carriers. | The authors investigated the relationship between obstructive sleep apnea/hypopnea (OSAH) and cognition in 36 older adults, 18 APOE epsilon4 carriers, and 18 non-carriers. Greater numbers of respiratory events negatively impacted memory function in epsilon4 carriers only. This is the first study to provide preliminary ... |
2,336,875 | Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population. | The authors reviewed all cases of type I spinal muscular atrophy (SMA) in Cuba over a 6-year period. The incidence of SMA type I was 3.53 per 100,000 livebirths. When the population was classified according to self-reported ethnicity, the incidence was eight per 100,000 for whites; 0.89 per 100,000 for blacks, and 0.96... |
2,336,876 | A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III. | Presented is the new kindred with autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 (16q-ADCA type III) associated with progressive hearing loss. By haplotype analysis, the critical interval was slightly narrowed to three megabase regions between GATA01 and D16S3095. Neuropathologic study of 16q-ADCA ty... |
2,336,877 | Neuropsychological function in nondemented carriers of presenilin-1 mutations. | Prospective and case-control studies have demonstrated that memory loss and executive dysfunction occur early in Alzheimer disease (AD).</AbstractText>To investigate these observations by the study of persons at risk for autosomal dominant forms of AD.</AbstractText>Neuropsychological and genetic tests were performed o... |
2,336,878 | GPs' opinions of their role in prenatal genetic services: a cross-sectional survey. | In the UK about 4.5% of the population carry cystic fibrosis, whilst in the inner city areas an even higher proportion carry one of the haemoglobin disorders such as thalassaemia. Couples who both carry the same recessive disorder have a 1 in 4 risk of an affected child in every pregnancy.</AbstractText>To assess GPs' ... |
2,336,879 | Analysis of LRRK 2 G 2019 S and I 2020 T mutations in Parkinson's disease. | Mutations in the leucine-rich repeat kinase 2 (LRRK 2), encoding dardarin protein, have been demonstrated to be linked to autosomal dominant Parkinson's disease (PD). In the present study the entire exon 41 of LRRK 2 gene was evaluated in a series of 174 PD patients recruited from Polish population, aged at the time of... |
2,336,880 | Alpha-helical domain is essential for antimicrobial activity of high mobility group nucleosomal binding domain 2 (HMGN2). | To examine the antimicrobial spectrum and functional structure of high mobility group nucleosomal binding domain 2 (HMGN2).</AbstractText>OMIGA protein structure software was used to analyze the two-dimensional structure of HMGN2. Synthetic short peptides were generated for studying the relationship between function an... |
2,336,881 | Association of a -1997G-->T polymorphism of the collagen Ialpha1 gene with bone mineral density in postmenopausal Japanese women. | Genetic variants that affect collagen Ialpha1 metabolism may be important in the development of osteoporosis or osteoporotic fractures. A -1997G-->T polymorphism in the promoter of the collagen Ialpha1 gene (COL1A1) was shown to be associated with bone mineral density (BMD) for the lumbar spine in postmenopausal Spa... |
2,336,882 | A genetic approach to the child with sensorineural hearing loss. | This article presents an overview of current topics related to the genetics of hearing loss. The review focuses on the approach toward a child with a sensorineural hearing loss of unknown etiology and the incorporation of genetic testing into the workup. Nongenetic causes of hearing loss are reviewed, as they are impor... |
2,336,883 | Inherited thrombophilias and adverse pregnancy outcome: screening and management. | Inherited thrombophilias are a heterogenous group of conditions which have been implicated in a variety of pregnancy complications. Evidence is mounting that implicates these inherited disorders in a range of pregnancy outcomes, including recurrent miscarriage, late fetal loss, preeclampsia, abruptio placentae, and int... |
2,336,884 | New directions in cytogenetic and molecular testing of the neonate. | The development of new diagnostic, and hence therapeutic possibilities, has brought the realization that genetic disease is now an integral part of medical practice. Advances in cytogenetic and molecular testing have drastically improved the ability to diagnose with certainty many previously unrecognized conditions. Ho... |
2,336,885 | From genetics to genomics: using gene-based medicine to prevent disease and promote health in children. | The remarkable achievements of the Human Genome Project promise great opportunities for disease prediction, treatment, and prevention. In this paper, we discuss the continuum of genetic variation as medical practice begins to shift focus from the study of single genes (genetics) to the study of the entire genome (genom... |
2,336,886 | [Molecular bases of dystrophinopathies]. | Duchenne muscular dystrophy (DMD) is inherited in an X-linked recessive pattern and occurs at an incidence of 1 in 3500 male births, which means that it is a so-called "orphan" or rare disease (frequency < 1/2000). Yet it is one of the most frequent myopathies and is observed in all populations. We review here the s... |
2,336,887 | Testing differential gene expression in functional groups. Goeman's global test versus an ANCOVA approach. | Single genes are not, in general, the primary focus of gene expression experiments. The researcher might be more interested in relevant pathways, functional sets, or genomic regions consisting of several genes. Efficient statistical tools to handle this task are of interest to research of biology and medicine.</Abstrac... |
2,336,888 | Multiplicity issues in microarray experiments. | Discussion of different error concepts relevant to microarray experiments. Review of some commonly used multiple testing procedures. Comparison of different approaches as applied to gene expression data.</AbstractText>This article focuses on familywise error rate (FWER) and false discovery rate (FDR) controlling proced... |
2,336,889 | Preimplantation genetic diagnosis of Canavan disease. | Canavan disease is an autosomal recessive disorder which is relatively common in Ashkenazi Jews. It is characterized by developmental delay, severe hypotonia and early death, and is caused by a deficiency of aspartoacylase which is encoded by the ASPA gene. In Ashkenazi Jews, one major mutation (E285A) and one minor mu... |
2,336,890 | Attitudes about genetics in underserved, culturally diverse populations. | New medical discoveries regarding genetic susceptibility to common chronic diseases, and the decoding of the human genome have increased public attention to genetics. What information is understood and what attitudes exist towards genetics and genetic research have not been well examined in underserved, culturally dive... |
2,336,891 | Attitudes and misconceptions about predictive genetic testing for cancer risk. | To describe awareness, knowledge, and attitudes about genetic testing for cancer risk among the general public.</AbstractText>Thirty-eight adults participated in focus groups in West Philadelphia, Pennsylvania. Participants' beliefs about what genetic testing is ranged from 'dianetics' to an accurate description of DNA... |
2,336,892 | The influence of HER2 genotypes as molecular markers in ovarian cancer outcome. | A relevant clinical problem in the treatment of ovarian cancer (OC) is the development of resistance to chemotherapy, frequently due to genetic variations in enzymes and receptors. Changes in the HER2 receptor have been associated with breast and ovarian cancers. The role of a polymorphism in the HER2 gene in the clini... |
2,336,893 | Factors increasing local recurrence in breast-conserving surgery. | From 20-year follow-up results of two pioneering randomized controlled trials demonstrating equal survival after mastectomy and breast-conservation therapy, recent high-quality, evidence-based clinical practice recommendations have been made. Breast-conservation therapy undoubtedly represents substantial progress for a... |
2,336,894 | Rare missense variants in ATP1A2 in families with clustering of common forms of migraine. | Migraine is a recurrent neurovascular disease. Its two most common forms-migraine without aura (MO) and migraine with aura (MA)-both show familial clustering and a complex pattern of inheritance. Familial hemiplegic migraine (FHM) is a rare monogenic subform caused by mutations in the calcium channel gene CACNA1A or th... |
2,336,895 | Gametophytic selection in Arabidopsis thaliana supports the selective model of intron length reduction. | Why do highly expressed genes have small introns? This is an important issue, not least because it provides a testing ground to compare selectionist and neutralist models of genome evolution. Some argue that small introns are selectively favoured to reduce the costs of transcription. Alternatively, large introns might ... |
2,336,896 | Genetic variation of Polish endangered Biłgoraj horses and two common horse breeds in microsatellite loci. | Genetic variation of endangered Biłgoraj horses and two common Polish horse breeds was compared with the use of 12 microsatellite loci (AHT4, AHT5, ASB2, HMS2, HMS3, HMS6, HMS7, HTG4, HTG6, HTG7, HTG10, VHL20). Lower allelic diversity was detected in all investigated populations in comparison to other studies. La... |
2,336,897 | The evolutionary dynamics of endogenous retroviruses. | Endogenous retroviruses (ERVs) are vertically transmitted intragenomic elements derived from integrated retroviruses. ERVs can proliferate within the genome of their host until they either acquire inactivating mutations or are lost by recombinational deletion. We present a model that unifies current knowledge of ERV bi... |
2,336,898 | Risk of selecting de novo drug-resistance mutations during structured treatment interruptions in patients with chronic HIV infection. | Structured treatment interruption (STI) may allow viral replication in the presence of decreased plasma drug levels, with risk of selection of resistance mutations.</AbstractText>For patients recruited for an STI study, genotypic resistance testing was performed at baseline (before receipt of any treatment), immediatel... |
2,336,899 | [Rapid onset of visual recovery following acute visual loss due to leber's hereditary optic neuropathy]. | Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder affecting the optic nerves in which the typical clinical presentation is subacute, painless, sequential visual loss in young adult males. Patients with LHON who have atypical clinical features may be initially misdiagnosed.</AbstractText>An 8... |
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