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2,338,300 | Screening for an inherited susceptibility to colorectal cancer. | The principal Mendelian disorders predisposing to colorectal cancer are familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). FAP is caused by mutations in the adenomatous polyposis coli (APC) gene. HNPCC is caused by a mutation in one of at least five mismatch repair genes. It is ... |
2,338,301 | The BsmI vitamin D receptor gene polymorphism is associated with ulcerative colitis in Jewish Ashkenazi patients. | Susceptibility to inflammatory bowel disease (IBD) has a strong genetic component. The vitamin D receptor (VDR) gene maps to a region on chromosome 12 shown to be associated with IBD in some studies. In this case-control study we determined the association between the BsmI VDR gene polymorphism and IBD in patients with... |
2,338,302 | Screening of 12 SNPs of CYP3A4 in a Chinese population using oligonucleotide microarray. | Human cytochrome P450 3A4 (CYP34A) plays an important role in the metabolism of many endo- and xenomaterials. It also exhibits a substantial interindividual variation in enzymatic activity. It has been shown that the mutant alleles of CYP3A4 encoding inactive/decreased enzymes are largely caused by single nucleotide po... |
2,338,303 | Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain. | In Spain, 85% of patients with genetic hemochromatosis (GH) are homozygous for the C282Y mutation of the HFE gene. H63D and S65C mutations of HFE may also play some role in the disease. The aim of this study was to establish the prevalence of C282Y, H63D, and S65C mutations of the HFE gene in newborns in Catalonia, Spa... |
2,338,304 | Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. | Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by variable clinical manifestations including branchial fistulae, preauricular pits, ear malformations, hearing impairment, and renal anomalies. BOR is caused by mutations in the genes EYA1 and SIX1. A Danish BOR family with five affected... |
2,338,305 | The TDI-FP assay in human Y chromosome SNP haplotyping. | One of the many commercial technologies for genotyping single nucleotide polymorphisms (SNPs) is template direct dye-terminator incorporation with fluorescence-polarization (TDI-FP assay). It is a single-base extension assay followed by reading the fluorescence polarization values in an appropriate instrument. We have ... |
2,338,306 | Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR. | The molecular basis of Angelman syndrome and Prader-Willi syndrome is well established, and genetic testing for these disorders is clinically available. Imprinting abnormalities account for up to 4% of patients with Angelman and Prader-Willi syndromes. Deletions of the imprinting center region are the molecular abnorma... |
2,338,307 | A combined allele-specific PCR and RFLP assay to detect the 35delG mutation in the Connexin 26 gene. | Mutations in the Connexin-26 (specified GJB2) gene have been shown to be a major cause of nonsyndromic recessive deafness (NSRD), and a single mutation 35delG in the GJB2 gene accounts for the majority of cases of NSRD. For diagnostic analyses and for scientific studies of large numbers of patients, fast and economic a... |
2,338,308 | Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis. | We describe the development and implementation of a neurofibromatosis type 2 (NF2) mutation scanning service based on novel techniques. All 17 exons of the NF2 gene are amplified in four polymerase chain reaction (PCR) reactions, using the meta-PCR technique to link the NF2 exons into chimeric concatamers. The meta-PCR... |
2,338,309 | Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. | Mutation detection in the DMD gene defective in Duchenne (DMD) and Becker muscular dystrophies (BMD) is complicated by the presence of 79 exons. The majority of recognized mutations are, however, copy number changes of individual exons, which traditionally have been identified by three common multiplex polymerase chain... |
2,338,310 | BRCA1 and BRCA2 in 2005. | Extract: In 1994, Mark Skolnick and his colleagues at Myriad Genetics in Salt Lake City announced that they had identified the BRCA1 (BReast CAncer 1) gene. This effectively put an end to a five-year competition that had been raging among several research groups in North America and Europe -- ultimately it was a privat... |
2,338,311 | Recombinant insulin-like growth factor-1 as a therapy for IGF-1 deficiency in renal failure. | Renal disease in children disrupts the growth hormone (GH) and insulin-like growth factor (IGF) axis and causes growth failure. Although GH therapy stimulates growth in these children, their short stature is likely due to a form of IGF-1 deficiency (IGFD) rather than GH deficiency. Recent experimental data have caused ... |
2,338,312 | A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets. | The identification of intragenic rearrangements is important for a comprehensive understanding of mutations that occur in some clinically important genes. Single nucleotide polymorphism haplotypes obtained from clinical sequence data have been used to identify patients at high risk for rearrangement mutations. Applicat... |
2,338,313 | Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model. | Many inherited diseases involve large genes with many different mutations. Identifying a wide spectrum of mutations requires an efficient gene-scanning method. By differentiating thermodynamic stability and mobility of heteroduplexes from heterozygous samples, temperature gradient capillary electrophoresis (TGCE) was u... |
2,338,314 | Genotoxicity testing of some organophosphate insecticides in the Drosophila wing spot test. | In this study, different concentrations of some organophosphate insecticides (methyl parathion, azamethiphos, dichlorvos and diazinon) have been evaluated for genotoxicity in the wing somatic mutation and recombination test (SMART) of Drosophila melanogaster. Third-instar larvae trans-heterozygous for two genetic marke... |
2,338,315 | A common LRRK2 mutation in idiopathic Parkinson's disease. | Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been shown to cause autosomal dominant Parkinson's disease. Few mutations in this gene have been identified. We investigated the frequency of a common heterozygous mutation, 2877510 g-->A, which produces a glycine to serine aminoacid substitution at cod... |
2,338,316 | Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. | Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause some forms of autosomal dominant Parkinson's disease. We measured the frequency of a novel mutation (Gly2019 ser) in familial Parkinson's disease by screening genomic DNA of patients and controls. Of 767 affected individuals from 358 multiplex families, 3... |
2,338,317 | Genetic susceptibility screening in schools: attitudes of the school community towards hereditary haemochromatosis. | Carrier screening to provide reproductive options has been offered to students in the school setting for a number of years; however, genetic susceptibility screening for disease predisposition has not been introduced to the school community. Experience has shown that the success of a population-based programme relies o... |
2,338,318 | Approaches to the analysis of cell signaling networks and their application in drug discovery. | The ability to predict the safety and efficacy of novel drugs prior to clinical testing is a key goal in pharmaceutical drug discovery. Gaining a mechanistic understanding of the complex cell signaling networks (CSNs) underlying disease processes promises to help reduce the number of clinical failures by identifying po... |
2,338,319 | Rare diseases provide rare insights into DNA repair pathways, TFIIH, aging and cancer center. | The study of rare human diseases has been instrumental in the development of our understanding of human DNA repair processes. This meeting focused on three disorders of DNA repair and transcription: Cockayne syndrome (CS), xeroderma pigmentosum (XP) and trichothiodystrophy (TTD). For the first time, clinicians, basic r... |
2,338,320 | General public's knowledge, interest and information needs related to genetic cancer: an exploratory study. | Single-group interviews were conducted with 49 people to get an idea of what and how the general public thinks about genetic cancer. Understanding what people think and need is crucial for adequate public health communication about genetic issues. Group discussions revealed that people believed that the vulnerability f... |
2,338,321 | Molecular decomposition of complex clinical phenotypes using biologically structured analysis of microarray data. | Today, the characterization of clinical phenotypes by gene-expression patterns is widely used in clinical research. If the investigated phenotype is complex from the molecular point of view, new challenges arise and these have not been addressed systematically. For instance, the same clinical phenotype can be caused by... |
2,338,322 | Molecular pathogenesis of oligodendroglial tumors. | Based on their histopathological appearances, most diffusely infiltrative gliomas can be classified either as astrocytic tumors (As), pure oligodendroglial tumors (Os) or mixed oligoastrocytic tumors (OAs). The latter two may be grouped together as oligodendroglial tumors (OTs). The distinction between As and OTs is im... |
2,338,323 | Genome screen in the French EGEA study: detection of linked regions shared or not shared by allergic rhinitis and asthma. | In the sample of 295 French EGEA families with at least one asthmatic subject, a genome screen was conducted to identify potential linkage regions specific either to allergic rhinitis (AR) or to asthma as well as those shared by the two diseases. Two binary rhinitis phenotypes based on (1) diagnosis (ARbin1) and (2) sy... |
2,338,324 | Testing the hypothesis of recent population expansions in nematode parasites of human-associated hosts. | It has been predicted that parasites of human-associated organisms (eg humans, domestic pets, farm animals, agricultural and silvicultural plants) are more likely to show rapid recent population expansions than are parasites of other hosts. Here, we directly test the generality of this demographic prediction for specie... |
2,338,325 | The association between acute fatty liver of pregnancy and fatty acid oxidation disorders. | Acute fatty liver of pregnancy is a relatively rare but potentially fatal liver disorder of late pregnancy. Recent advances in molecular diagnostic procedures provide evidence of a genetic basis for this condition and a link to offspring disorders in fatty acid oxidation. This relationship implies the need for genetic ... |
2,338,326 | The genetic role in autosomal dominant polycystic kidney disease and nephrology clinical practice. | The science of genetics is able to provide clinicians with early information on the inheritance of autosomal dominant polycystic kidney disease (ADPKD). It is also possible that nephrology clinicians will be able to promote early patient education and provide interventions to improve patient care. Mutations in PKD1 and... |
2,338,327 | Pathogenesis of high altitude pulmonary edema: does alveolar epithelial lining fluid vascular endothelial growth factor exacerbate capillary leak? | Vascular endothelial growth factor (VEGF) is a potent mediator of capillary leak if it gains access to its receptors on the capillary endothelium. We have observed that there are high levels of VEGF compartmentalized in the alveolar epithelial lining fluid of normal humans at levels 500-fold greater than plasma. The po... |
2,338,328 | The spectrum of thyroid abnormalities in individuals with 18q deletions. | Chromosome 18q deletions (18q-) are survivable autosomal deletions, having an estimated incidence of one in 40,000 live births. Our long-term goals were to 1) comprehensively define the endocrine phenotype, 2) determine the natural history, and 3) identify key genes leading to particular phenotypes. This report specifi... |
2,338,329 | SNPs and haplotypes in the S100B gene reveal association with schizophrenia. | The S100B gene locates in 21q22.3 and produces neurotrophin mainly in astrocytes of CNS which can act as an extensive marker of glial cell integrity. The synaptic destabilization hypothesis (GGF/SD) suggests that the functional deficiency of growth factors like S100B is involved in the etiology of schizophrenia and the... |
2,338,330 | Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family. | We report here the characterization of a Japanese family with maternally transmitted nonsyndromic hearing loss. Fourteen of 21 matrilineal relatives in this family exhibited early or late-onset/progressive but noncongenital hearing impairment with a wide range of severity, ranging from severe to normal hearing. The age... |
2,338,331 | Australian data and meta-analysis lend support for alpha-synuclein (NACP-Rep1) as a risk factor for Parkinson's disease. | It remains unclear whether genetic variants in SNCA (the alpha-synuclein gene) alter risk for sporadic Parkinson's disease (PD). The polymorphic mixed sequence repeat (NACP-Rep1) in the promoter region of SNCA has been previously examined as a potential susceptibility factor for PD with conflicting results. We report g... |
2,338,332 | Frequency of factor V leiden mutation. | To determine the frequency of factor V leiden mutation.</AbstractText>Observational study.</AbstractText>One-year, January 2001 to December 2001 at the Armed Forces Institute of Pathology, Rawalpindi, Pakistan.</AbstractText>Two hundred subjects each of apparently healthy and unrelated Punjabi and Pathan origins were i... |
2,338,333 | Predictability of preimplantation genetic diagnosis of aneuploidy and translocations on prospective attempts. | The aim of this study was to determine if the outcomes of aneuploidy and translocation testing by preimplantation genetic diagnosis (PGD) at the 8-cell stage have a predictive value for new genetic diagnosis cycles. In total, 83 cycles (39 patients) undergoing PGD of translocations and 378 cycles (176 patients) of aneu... |
2,338,334 | Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. | Diagnostic molecular genetic testing for multiple endocrine neoplasia type 1 (MEN1) has been available since the identification of the MEN1 gene in 1997. Mutation screening of the MEN1 gene has been recommended for patients who meet clinical criteria for MEN1 (at least two of the following: parathyroid hyperplasia, pan... |
2,338,335 | The phylogeny of Chinese indigenous pig breeds inferred from microsatellite markers. | A genetic study of 32 local Chinese, three foreign pig breeds [Duroc (DU), Landrace and Yorkshire], and two types of wild boar (Hainan and Dongbei wild boar) based on 34 microsatellite loci was carried out to clarify the phylogeny of Chinese indigenous pig breeds. The allele frequencies, effective numbers of alleles, a... |
2,338,336 | Intrauterine environmental and genetic influences on the association between birthweight and cardiovascular risk factors: studies in twins as a means of testing the fetal origins hypothesis. | Evidence has accumulated that low birthweight is associated with several risk factors for cardiovascular disease. However, it is not known whether or not these associations are due to a programmed response to intrauterine malnutrition or genetic factors influencing both birthweight and cardiovascular risk factors. Twin... |
2,338,337 | [Genetic diagnostics using linkage analysis--when and why?]. | Prenatal diagnosis in certain genetic diseases can be achieved by direct DNA testing if the population at risk has a limited number of relatively common mutations, or if the gene being tested is small. In the case of other genetic diseases, this possibility is unfeasible. The use of polymorphic markers very close to a ... |
2,338,338 | A population-based assessment of the clustering of breast cancer in families eligible for testing of BRCA1 and BRCA2 mutations. | The prevalence of families eligible for BRCA1/2 mutation testing in the population burden of breast cancer was analysed and the aggregation of breast cancer in these families was explored.</AbstractText>The families of the Swedish Family-Cancer Database with at least three generations (N=944 723) were classified accord... |
2,338,339 | Neurological aspects of the Angelman syndrome. | Angelman syndrome (AS) has emerged as an important neurogenetic syndrome due to its relatively high prevalence and easier confirmation of the diagnosis by improved genetic testing. In infancy, nonspecific clinical features of AS pose diagnostic challenges to the neurologist and these include any combination of microcep... |
2,338,340 | Pharmacogenetics: policy needs for personal prescribing. | Pharmacogenetics involves genetic testing of individual patients to guide drug treatment. Proponents argue that pharmacogenetics will achieve major gains in drug safety and efficacy, and revolutionise marketing. Pharmacogenetics also raises several policy concerns, including the need for sound information for clinical ... |
2,338,341 | Development of a human acute myeloid leukaemia screening panel and consequent identification of novel gene mutation in FLT3 and CCND3. | A study was undertaken to develop an acute myeloid leukaemia (AML) screening panel to uncover novel recurring gene mutations. Analysis was performed on six genes known to be mutated in AML (RUNX1, FLT3, KIT, CEBPA, PTPN11 and NRAS) and an additional two candidate genes (CCND3 and FES) in a panel of 175 primary human AM... |
2,338,342 | The hamartomatous polyposis syndromes: a clinical and molecular review. | Inherited forms of gastrointestinal cancer have been a major focus of study and advancement over the past decade. Familial adenomatous polyposis and hereditary nonpolyposis colon cancer are the two most common heritable colon cancer syndromes. Inherited polyposis syndromes are characterized by the dominant type of poly... |
2,338,343 | A polymorphism in the TNF-alpha promoter gene is associated with pediatric onset and colonic location of Crohn's disease. | Studies suggest that pediatric onset of Crohn's disease (CD) may demonstrate more frequent upper intestinal and colonic location and in male gender, in comparison to adults. Variability in age of onset (AOO) and location of disease have not been adequately explained to date. NOD2/CARD15 is highly expressed in the ileum... |
2,338,344 | Identification of residues that contribute to receptor activation through the analysis of compensatory mutations in the G protein-coupled alpha-factor receptor. | The alpha-factor receptor (Ste2p) stimulates mating of the yeast Saccharomyces cerevisiae. Ste2p belongs to the large family of G protein-coupled receptors that are characterized by seven transmembrane alpha-helices. Receptor activation is thought to involve changes in the packing of the transmembrane helix bundle. To ... |
2,338,345 | Genetic testing: practical, ethical, and counseling considerations. | Genetic testing is becoming a much more common practice in medicine today. This presents a unique set of challenges for medical professionals in virtually all specialties. The practical aspects of determining which test to order, and in interpreting the result accurately in the context of the family history, can be dif... |
2,338,346 | [Paternity analysis in deficiency cases with related putative fathers: simulation of a deficiency analysis in 27 families]. | During the last few years, the number of privately ordered paternity investigations has increased considerably. Probably due to financial reasons in more and more cases only the putative father and the child are investigated. Additionally, very often only one method, such as STR analysis, is employed. This raises the q... |
2,338,347 | Genetic dissection of stress response pathways in vivo. | A number of lines of evidence suggest that alterations in forebrain glucocorticoid receptor (GR)-mediated regulation of the hypothalamic-pituitary-adrenal (HPA) axis may be involved in the etiology of depression. The level of expression of GR in the hippocampus is highly correlated with HPA axis activity, and a number ... |
2,338,348 | Testing for parentage and kinship. | Parentage analyses are of interest to workers in health care, law enforcement, immigration and other fields. This review describes recent applications, technical advances, and quality improvements.</AbstractText>Mutations at short tandem repeat sequence loci confound interpretations of genetic data used to assess all b... |
2,338,349 | From genomic advances to public health benefits: the unbearable lightness of being stuck. | Genetic determinants of common human diseases are still poorly understood. Due to large investments, many small successes have been made and the research field is rapidly expanding. However, genetic susceptibility variants showing repeatable associations with common diseases are usually of small effect. They are theref... |
2,338,350 | GJB2 mutations: passage through Iran. | Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in m... |
2,338,351 | Analogues of virus resistance genes map to QTLs for resistance to sharka disease in Prunus davidiana. | Plum pox virus (PPV), the causative agent of sharka disease in Prunoideae, is one of the most serious problems affecting stone fruit production in Europe and America. Resistance to PPV was previously described in a Prunus davidiana clone, P1908, and introduced into peach (Prunus persica) genotypes. Genetic resistance t... |
2,338,352 | Familial adenomatous polyposis: genetics and epidemiology. | Familial adenomatous polyposis (FAP) is a rare genetic disease characterised by the development of hundreds to thousands of adenomatous polyps along the colon-rectum leading to cancer at a young age, if left untreated. In 1991, the gene responsible for the vast majority of FAP cases, the adenomatous polyposis coli (APC... |
2,338,353 | A modified bootscan algorithm for automated identification of recombinant sequences and recombination breakpoints. | We have developed a modified BOOTSCAN algorithm that may be used to screen nucleotide sequence alignments for evidence of recombination without prior identification of nonrecombinant reference sequences. The algorithm is fast and includes a Bonferroni corrected statistical test of recombination to circumvent the multip... |
2,338,354 | Mutation rate at commonly used forensic STR loci: paternity testing experience. | Paternity tests are carried out by the analysis of hypervariable short tandem repeat DNA loci. These microsatellite sequences mutate at a higher rate than that of bulk DNA. The occurrence of germline mutations at STR loci posses problems in interpretation of resulting genetic profiles. We recently analyzed 59-159 paren... |
2,338,355 | A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. | To characterise the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with the Arg844His mutation in RIM1.</AbstractText>Eight members of a four generation, non-consanguineous British family were examined clinically and underwent electrophysiological testing, automated dark adapted perimetry, dar... |
2,338,356 | Heterozygosity for p53 (Trp53+/-) accelerates epithelial tumor formation in fanconi anemia complementation group D2 (Fancd2) knockout mice. | Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive bone marrow failure and an increased susceptibility to cancer. FA is genetically heterogeneous, consisting of at least 11 complementation groups, FA-A through L, including FA-D1 (BRCA2) and D2. We have previously reported an increased in... |
2,338,357 | Differential contribution of the three Aph1 genes to gamma-secretase activity in vivo. | Gamma-secretase is the protease responsible for amyloid beta peptide release and is needed for Notch, N-Cadherin, and possibly other signaling pathways. The protease complex consists of at least four subunits, i.e., Presenilin, Aph1, Pen2, and Nicastrin. Two different genes encode Aph1A and Aph1B in man. A duplication ... |
2,338,358 | Sequential FISH analysis using competitive displacement of labelled peptide nucleic acid probes for eight chromosomes in human blastomeres. | The aim was to introduce a new strategy based on peptide nucleic acid (PNA) probes and competitive displacement for using fluorescence in-situ hybridization (FISH) analysis on human blastomeres.</AbstractText>Sequential FISH analysis with PNA probes and competitive displacement was performed using three different probe... |
2,338,359 | Maternal uniparental disomy chromosome 14: case report and literature review. | Uniparental disomy is a genetic cause of disease implicated in a wide variety of neurologic disorders. A recently identified condition is maternal uniparental disomy for chromosome 14 (mUPD14) syndrome. A child with hypotonia and developmental delay was found to have mUPD14 after identification of a balanced karyotypic... |
2,338,360 | Re-evaluating a test of the heterogeneity explanation for mortality plateaus. | [Drapeau, M.D., Gass, E.K., Simison, M.D., Mueller, L.D., Rose, M.R., 2000. Testing the heterogeneity theory of late-life mortality plateaus by using cohorts of Drosophila melanogaster, Experimental Gerontology, 35 71-84.] tested, in populations of Drosophila melanogaster, a prediction of the heterogeneity explanation ... |
2,338,361 | Genetic variation in femur extrinsic strength in 29 different inbred strains of mice is dependent on variations in femur cross-sectional geometry and bone density. | The femurs from groups of mice from 29 different inbred strains were characterized to study the genetic variations in bone parameters. For these analyses, we used peripheral quantitative computed tomography to assess bone size and density in addition to three-point bend testing to assess bone mechanical properties. Hig... |
2,338,362 | Systemic analysis and zygosity determination of the RHD gene in a D-negative Chinese Han population reveals a novel D-negative RHD gene. | The aim of this study was to systemically analyse the genetic background of D negativity in a Chinese Han population.</AbstractText>DNA of 74 D-negative samples was analysed by using an RHD multiplex polymerase chain reaction (MPX PCR) for the presence of RHD and by PCR-restriction fragment length polymorphism (PCR-RFL... |
2,338,363 | Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings. | Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, microphthalmia, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997). We d... |
2,338,364 | Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping. | To establish the genotype of cultured cells from a cohort of amniotic fluid and chorionic villus samples, and compare this genotype with that obtained from uncultured material from the same sample, in order to assess the frequency and significance of maternal cell contamination of prenatal samples.</AbstractText>Quanti... |
2,338,365 | MAPK p38 alpha is dispensable for lymphocyte development and proliferation. | Signals mediated by the p38alpha MAPK have been implicated in many processes required for the development and effector functions of innate and adaptive immune responses. As mice deficient in p38alpha exhibit embryonic lethality, most analyses of p38alpha function in lymphocytes have relied on the use of pharmacologic i... |
2,338,366 | Identification of new dinucleotide-repeat polymorphisms in factor VIII gene using fluorescent PCR. | Haemophilia A is an X-linked inherited bleeding disorder. Linkage diagnosis using polymorphic markers in the factor VIII gene is used to archive the carrier detection and prenatal diagnosis. The objective of this study was to establish the allele frequency and heterozygosity rate (HR) of two new intragenic markers (Int... |
2,338,367 | Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation. | Autosomal dominant lateral temporal lobe epilepsy (ADLTLE) is a rare familial epilepsy with onset in adolescence or early adulthood, associated with mutations of LGI1 in most families. We describe the clinical, neuropsychological, and molecular genetic study of a new ADLTLE Italian family.</AbstractText>A four-generati... |
2,338,368 | ApoE epsilon4 allele and disease duration affect verbal learning in mild temporal lobe epilepsy. | To clarify the possible role of other factors including the ApoE epsilon4 allele for memory decline in temporal lobe epilepsy (TLE).</AbstractText>We conducted a neuropsychological and molecular study in 138 consecutive patients (78 female patients; mean age, 50.2 years, SD +/- 17.9; range, 14 to 87 years) with mild no... |
2,338,369 | Inherited susceptibility to colorectal cancer. | The principal Mendelian disorders predisposing to colorectal cancer are familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). FAP is due to mutations in the APC gene. HNPCC is due to a mutation in one of at least five mismatch repair genes. Identification of individuals with these ... |
2,338,370 | Setting research priorities for arthritis: the environmental perspective. | Recent enthusiasm for genetic advances in prevention is out of keeping with the etiology of most common diseases of the industrialized world, including the major inflammatory arthritides. These conditions have a genetically "complex" causation, involving many genes, and strong influences of the environment, acting on o... |
2,338,371 | Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer. | <AbstractText Label="AIMS/HYPOTHESIS" NlmCategory="OBJECTIVE">Mutations in hepatic nuclear factor 1alpha cause a monogenic form of diabetes, maturity onset diabetes of the young type 3 (MODY3). Our aim was (1) to assess the uptake of genetic testing for MODY3 and to determine factors affecting it, and (2) to compare at... |
2,338,372 | Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees. | Mutation of HNF-1beta gene has been reported in early onset diabetes or MODY families and this gene has been defined as MODY5 gene. The aim of our study was to examine whether HNF-1beta mutation contribute to early onset or multiple affected diabetes pedigrees in Chinese. Molecular scanning of HNF-1beta gene promoter r... |
2,338,373 | Studies on cryoprotectant toxicity to zebrafish (Danio rerio) oocytes. | Cryopreservation of fish germ cells is an important measure in conservation of fish genetic material. Although investigations on cryopreservation of fish sperm and embryos have been carried out extensively, cryopreservation of fish oocytes has not been studied systematically. In the present study the toxicity of cryopr... |
2,338,374 | Topological insulators inhibit diffusion of transcription-induced positive supercoils in the chromosome of Escherichia coli. | The double helical nature of DNA implies that progression of transcription machinery that cannot rotate easily around the DNA axis creates waves of positive supercoils ahead of it and negative supercoils behind it. Using topological reporters that detect local variations in DNA supercoiling, we have characterized the d... |
2,338,375 | [Genetics and allergies: consequences for the practitioner?]. | Atopic disorders (asthma, hay fever, atopic dermatitis) may develop on the basis of a genetic predisposition towards environmental factors. These complex genetic conditions do not follow Mendelian inheritance patterns. Rather, the genetic predisposition for atopic diseases is based on a combination of changes affecting... |
2,338,376 | [How can we recognize allergies in childhood?]. | There is an increase in the prevalence of atopic disorders such as atopic dermatitis, allergic rhinitis/rhinoconjunctivitis. Apart from a positive family history, environmental and genetic factors play a major role in their development. The measures of choice for the diagnosis of allergic conditions is the history (per... |
2,338,377 | Hemoglobinopathies in the Christmas Island population. | Christmas Island is a remote Australian territory 2,400 km north of Perth. Health care is administered from Perth. The population is predominantly Chinese, with some Malay, Indian and European. As hemoglobinopathies are known to be common amongst these ethnic groups, a study was performed to determine their prevalence ... |
2,338,378 | A novel approach to rapid determination of betaS-globin haplotypes: sequencing of the Agamma-IVS-II region. | beta-Globin gene cluster haplotypes were originally determined by restriction endonuclease mapping with Southern blots of polymorphic sites around the gene cluster. Over the years, haplotyping has been found to be useful, not only in population genetics but also in predicting the severity of hemoglobinopathies such as ... |
2,338,379 | Association testing in a linked region using large pedigrees. | This report describes computer implementation of a scheme for joint linkage and association analysis. The model implemented in the computer package Mendel estimates both recombination and linkage-disequilibrium parameters and conducts likelihood-ratio tests for (1) linkage alone, (2) linkage and association simultaneou... |
2,338,380 | General aspects and specific issues of informed consent on breast cancer treatments. | Informed consent (IC) is the process by which a patient can make choices about his/her health care; therefore it is considered to be a voluntary authorization given by the patient to the physician. To ensure the patient's right to self-determination, what can the physicians do? When treating breast cancer, there are se... |
2,338,381 | Dynamic model based algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays. | A high density of single nucleotide polymorphism (SNP) coverage on the genome is desirable and often an essential requirement for population genetics studies. Region-specific or chromosome-specific linkage studies also benefit from the availability of as many high quality SNPs as possible. The availability of millions ... |
2,338,382 | Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. | Despite the identification of mutations in the connexin 26 (GJB2) gene as the most common cause of recessive nonsyndromic hearing loss, the pattern of hearing impairment with these mutations remains inconsistent. Recently a deletion encompassing the GJB6 gene was identified and hypothesized to also contribute to hearin... |
2,338,383 | Expanding the three Rs to meet new challenges in humane animal experimentation. | The Three Rs are the main principles used by Animal Ethics Committees in the governance of animal experimentation, but they appear not to cover some ethical issues that arise today. These include: a) claims that certain species should be exempted on principle from harmful research; b) increased emphasis on enhancing qu... |
2,338,384 | Drug-resistant HIV infection among drug-naive patients in Israel. | In Israel, <0.06% of the general population is infected with human immunodeficiency virus (HIV), with a much higher prevalence among specific groups. These groups are distinguished demographically by risk behavior category and by virus subtype. We investigated transmission of drug resistance within groups to assess ... |
2,338,385 | Inducible clindamycin resistance in Staphylococci: should clinicians and microbiologists be concerned? | The increasing incidence of a variety of infections due to Staphylococcus aureus--and, especially, the expanding role of community-associated methicillin-resistant S. aureus (MRSA)--has led to emphasis on the need for safe and effective agents to treat both systemic and localized staphylococcal infections. Unlike most ... |
2,338,386 | MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. | Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. Using the novel multiplex ligation-dependent probe amplification (MLPA) method we performed retrospective and prospective analyses in a total of 193 individuals.... |
2,338,387 | Utilization of human liver microsomes to explain individual differences in paclitaxel metabolism by CYP2C8 and CYP3A4. | Paclitaxel is widely used for treatment of malignant tumors. Paclitaxel is metabolized by CYP2C8 and CYP3A4, and these enzymes are known to differ between individuals, although the details have not been clarified. Recent progress in pharmacogenetics has shown that genetic polymorphisms of metabolic enzymes are related ... |
2,338,388 | Mutagenicity testing with transgenic mice. Part I: Comparison with the mouse bone marrow micronucleus test. | As part of a larger literature study on transgenic animals in mutagenicity testing, test results from the transgenic mutagenicity assays (lacI model; commercially available as the Big Blue(R) mouse, and the lacZ model; commercially available as the Mutatrade markMouse), were compared with the results on the same substa... |
2,338,389 | The minimum number of clones necessary to sequence in order to obtain the maximum information about hepatitis C virus quasispecies: a comparison of subjects with and without liver cancer. | Most studies of hepatitis C virus (HCV) quasispecies have reported the results of sequencing only three to five clones per sample. The possibility that sequencing so few clones might not provide a representative picture of the quasispecies present in a sample has never been evaluated. The present study was conducted to... |
2,338,390 | Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohorts. | A DNA variant, rs734232, altering a RUNX1 binding site was recently reported as susceptibility allele at PSORS2 (17q25) in cohorts of psoriasis patients from the US. A testing of this variant in psoriasis patients from Germany did not confirm this association in 300 trios nor in two case-control studies with 281 patien... |
2,338,391 | [Genetic counseling and testing for families with Alzheimer's disease]. | With the identification of the genes responsible for autosomal dominant early-onset familial Alzheimer's disease (FAD genes), there is a considerable interest in the application of this genetic information in medical practice through genetic testing and counseling. Pathogenic mutations in the PSEN1 and PSEN2 genes enco... |
2,338,392 | Testing for acanthocytosis A prospective reader-blinded study in movement disorder patients. | The presence of acanthocytosis in peripheral blood smears remains the hallmark of the clinical diagnosis of most neuroacanthocytosis syndromes, such as chorea-acanthocytosis (ChAc) and McLeod syndrome. Genetic analyses and/or specific laboratory tests are available only for a minority of these disorders. Testing for ac... |
2,338,393 | LGI1 gene mutation screening in sporadic partial epilepsy with auditory features. | Partial epilepsy with auditory features occasionally segregates in families as an autosomal dominant trait. In some families mutations in the leucine-rich glioma inactivated (LGI1) gene have been identified. Sporadic cases might harbour either denovo or low-penetrant LGI1 mutations, which will substantially alter the f... |
2,338,394 | Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-based Japanese samples. | Basic information on the association between lifestyle factors and candidate genes is valuable for genetic-environmental study. We screened the association of habitual smoking or drinking with polymorphism in 40 candidate genes for a total of 153 single nucleotide polymorphisms (SNPs) using a sample of 339 middle-aged,... |
2,338,395 | An expanded evaluation of the relationship of four alleles to the level of response to alcohol and the alcoholism risk. | Alcoholism is a complex, genetically influenced disorder the cause of which may be better understood through the study of genetically influenced phenotypes that mediate the risk. One such intermediate phenotype is the low level of response (LR) to alcohol. This project used a case-control approach to search for genes t... |
2,338,396 | Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele. | Neural tube defects (NTDs) are a group of widely varying congenital malformations resulting from incomplete or improper fusion of the neural tube during embryonic development. NTDs are traditionally classified by the presence or absence of a layer of skin covering the spinal defect. Although a genetic component has bee... |
2,338,397 | Genetic susceptibility testing versus family history-based risk assessment: Impact on perceived risk of Alzheimer disease. | We examined how an Alzheimer disease (AD) family history assessment as compared to a risk assessment incorporating the absence of a disease-associated susceptibility allele affected risk perception among adult children with a family history of AD.</AbstractText>The REVEAL study is a clinical trial in which adult childr... |
2,338,398 | Outcomes from intensive training in genetic cancer risk counseling for clinicians. | Genetic cancer risk assessment is an emerging interdisciplinary practice that requires knowledge of genetics and oncology and specialized patient and family counseling skills. There is a growing need for cancer risk assessment practitioners, but most clinicians have inadequate cross-disciplinary training. An interdisci... |
2,338,399 | An evaluation of BRCA1 and BRCA2 founder mutations penetrance estimates for breast cancer among Ashkenazi Jewish women. | Three founder mutations in BRCA1 or BRCA2 genes increase breast cancer risk among Ashkenazi Jewish women. Reported estimates of the magnitude of this risk vary widely. We describe an integrated approach for assessing the plausibility of these estimates.</AbstractText>Our approach integrates four epidemiologic parameter... |
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