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2,339,800 | Identification of two mutations for ataxia telangiectasia among the Druze community. | Ataxia telangiectasia (AT) is a rare autosomal recessive disease characterized by progressive cerebellar ataxia, immunodeficiency, susceptibility to lymphoreticular malignancies and cancer predisposition, hypersensitivity to ionic radiation and chromosomal instability. In this study, we report a founder effect of AT wi... |
2,339,801 | Enhanced insulin secretion and cholesterol metabolism in congenic strains of the spontaneously diabetic (Type 2) Goto Kakizaki rat are controlled by independent genetic loci in rat chromosome 8. | <AbstractText Label="AIMS/HYPOTHESIS" NlmCategory="OBJECTIVE">Genetic investigations in the spontaneously diabetic (Type 2) Goto Kakizaki (GK) rat have identified quantitative trait loci (QTL) for diabetes-related phenotypes. The aims of this study were to refine the chromosomal mapping of a QTL ( Nidd/gk5) identified ... |
2,339,802 | Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease. | A positional cloning effort in French Canadian families with Paget's disease of bone (PDB) resulted in the identification of a mutation in the sequestosome1 (SQSTM1) gene in a subset of both familial and sporadic PDB cases. This was confirmed in samples of mainly United Kingdom (UK) origin. In this study, we performed ... |
2,339,803 | MICA intron 1 sequences of conserved extended HLA haplotypes: implications for sequencing-based typing. | The human major histocompatibility complex (MHC) class I chain-related gene A (MICA) has a high degree of genetic diversity. Several methods have been used in MICA typing. Recent studies reported different results for the same reference cell lines typed by different methods. By searching the GenBank, we found an indel ... |
2,339,804 | Engineering RENTA, a DNA prime-MVA boost HIV vaccine tailored for Eastern and Central Africa. | For the development of human immunodeficiency virus type 1 (HIV-1) vaccines, traditional approaches inducing virus-neutralizing antibodies have so far failed. Thus the effort is now focused on elicitation of cellular immunity. We are currently testing in clinical trials in the United Kingdom and East Africa a T-cell va... |
2,339,805 | Mapping complex disease loci in whole-genome association studies. | Identification of the genetic polymorphisms that contribute to susceptibility for common diseases such as type 2 diabetes and schizophrenia will aid in the development of diagnostics and therapeutics. Previous studies have focused on the technique of genetic linkage, but new technologies and experimental resources make... |
2,339,806 | Genetically defined mouse models that mimic natural aspects of human prostate cancer development. | This review is focused on mouse models for prostate cancer that have been designed on the basis of genetic alterations that are frequently found in human prostate cancer. It begins with an analysis of the similarities and differences in the gross and microscopic anatomy of the mouse and human prostate glands, and exten... |
2,339,807 | Outpatient clinic for genetic counseling and gene testing of retinoblastoma. | We report on the genetic counseling and gene testing of patients with retinoblastoma who visited the National Cancer Center Hospital, Tokyo, from April 1997 through September 2003. During this period, 73 probands visited the clinic, and gene testing was performed in 51 individuals. Germline mutations of the RBI gene we... |
2,339,808 | Isolation, characterization and beneficial effects of rice associated plant growth promoting bacteria from Zanzibar soils. | This study was undertaken to isolate and characterize plant growth promoting bacteria (PGPB) occurring in four soils of Zanzibar, Tanzania as well as to evaluate their potential use as biofertilizers for rice. A total of 12 PGPB strains were isolated from rice and studied for growth characteristics, carbon/nitrogen sou... |
2,339,809 | Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence. | The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, seizures and visual loss secondary to retinal dystrophy. The juvenile type is of special interest to the ophthalmologist as visual lo... |
2,339,810 | Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion. | Germ-line mutations in the BRCA1 gene cause hereditary predisposition to breast and ovarian cancer. BRCA1 and BRCA2 mutations account for about 40% of high-risk families. Mutation-screening methods generally focus on genomic DNA and are usually PCR based; they enable the detection of sequence alterations such as point ... |
2,339,811 | Correlations between fitness and heterozygosity at allozyme and microsatellite loci in the Atlantic salmon, Salmo salar L. | The relationship between heterozygosity at genetic markers (six allozyme and eight microsatellite loci), and fluctuating asymmetry (FA), length and weight was investigated in two samples of Atlantic salmon (Salmo salar L.) with different timings of first active feeding (early (EA) and late (LA) salmon). This trait had ... |
2,339,812 | SCE analysis in G2 lymphocyte prematurely condensed chromosomes after exposure to atrazine: the non-dose-dependent increase in homologous recombinational events does not support its genotoxic mode of action. | Several studies have been carried out to evaluate the mutagenic and carcinogenic potential of atrazine, the most prevalent of triazine herbicides classified as a "possible human carcinogen". The majority of these studies have been negative but positive responses have been also reported including mammary tumors in femal... |
2,339,813 | Heritable translocations induced by dermal exposure of male mice to acrylamide. | Acrylamide (AA) is an important industrial chemical used mainly in the production of polymers. It can be absorbed through the skin. AA was shown to be a germ cell clastogen that entails a genetic risk for exposed workers. The genetic risk calculation was based on mouse heritable translocation test data obtained after a... |
2,339,814 | A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. | To identify the genetic defect associated with autosomal recessive congenital cataract in four Arab families from Israel.</AbstractText>Genotyping was performed using microsatellite markers spaced at approximately 10 cM intervals. Two-point lod scores were calculated using MLINK of the LINKAGE program package. Mutation... |
2,339,815 | How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency? | The allopurinol test aims to distinguish carriers and noncarriers for ornithine transcarbamylase (OTC) deficiency. We have evaluated the reliability of the test in at-risk females of known genotype. Results based on urine orotidine and/or orotic acid measurement were compared in terms of sensitivity and specificity. Re... |
2,339,816 | Lung tumorigenicity in A/J and rasH2 transgenic mice following mainstream tobacco smoke inhalation. | Hypothesizing that their respective genetic backgrounds would confer an increased sensitivity to lung tumorigenesis, the plausibility of selected rodent models for the inhalation testing of mainstream tobacco smoke (MTS) was evaluated. Strain A/J and rasH2 transgenic (Tg) mice were exposed to MTS from Kentucky 1R4F res... |
2,339,817 | Predictors of participation in psychosocial telephone counseling following genetic testing for BRCA1 and BRCA2 mutations. | Although adjunctive educational and psychosocial programs are now being developed for BRCA1 and BRCA2 (BRCA1/2) mutation carriers, limited information is available about whether mutation carriers will want to receive such programs or about the characteristics of individuals who participate. The goals of the present stu... |
2,339,818 | High-throughput association testing on DNA pools to identify genetic variants that confer susceptibility to acute myeloid leukemia. | We have evaluated the use of allele-specific PCR (AS PCR) on DNA pools as a tool for screening inherited genetic variants that may be associated with risk of adult acute myeloid leukemia (AML). Two DNA pools were constructed, one of 444 AML cases, and another of 823 matched controls. The pools were validated using indi... |
2,339,819 | Factors predicting prostate specific antigen testing among first-degree relatives of prostate cancer patients. | First-degree relatives (FDRs) of prostate cancer patients are known to be at increased risk for the disease, yet relatively little is known about their screening behaviors. The current lack of consensus about the value of prostate cancer screening underscores the importance of examining why some men at increased risk p... |
2,339,820 | Fertility intentions following testing for a BRCA1 gene mutation. | To test whether fertility intentions differed among persons who tested positive, tested negative, or did not know their genetic status for a mutation of the BRCA1 gene.</AbstractText>Participants were members of a large Utah-based kindred with an identified mutation at the BRCA1 locus. Participants received genetic cou... |
2,339,821 | Linkage disequilibrium between HLA class II region and autoimmune hepatitis in pediatric patients. | <AbstractText Label="BACKGROUND/AIMS" NlmCategory="OBJECTIVE">Susceptibility HLA class II alleles associated with autoimmune hepatitis (AIH) were only described in case-control studies.</AbstractText>The transmission/disequilibrium test was used in 50 simplex families with AIH, to determine if affected offspring receiv... |
2,339,822 | The contribution of farm animals to human health. | Farm animals and their products have a longstanding and successful history of providing significant contributions to human nutrition, clothing, facilitation of labour, research, development and medicine and have thus been essential in improving life expectancy and human health. With the advent of transgenic technologie... |
2,339,823 | NOD2/CARD15: relevance in clinical practice. | So far, the relevance of NOD2/CARD15 genotyping for clinical practice is modest. The current data almost unanimously show that NOD2/CARD15 mutations in Crohn's disease are associated with small-bowel involvement. More studies are needed to determine whether NOD2/CARD15 mutations are also associated with a fibrostenotic... |
2,339,824 | Genetic influence on variability in human acute experimental pain sensitivity associated with gender, ethnicity and psychological temperament. | While a variety of cultural, psychological and physiological factors contribute to variability in both clinical and experimental contexts, the role of genetic factors in human pain sensitivity is increasingly recognized as an important element. This study was performed to evaluate genetic influences on variability in h... |
2,339,825 | Diagnosis and management of medullary thyroid carcinoma. | Successful treatment of MTC depends heavily on early diagnosis and treatment. Often, this is not possible for sporadic MTC; however, genetic testing for hereditary MTC makes this possible if genetic carriers have surgery before C cells undergo malignant transformation. All patients who have MTC should be tested for RET... |
2,339,826 | Development of a highly efficient system for assessing recombinant gene expression in plant cell suspensions via Agrobacterium tumefaciens transformation. | A transient gene-expression system was developed and used to characterize promoter strength, to verify suitability of bacterial gene modifications for expression in plant cells, and to express active antibody molecules. The system is based on suspension tobacco cells transformed by Agrobacterium in a transient way. Con... |
2,339,827 | Sperm DNA damage and its clinical relevance in assessing reproductive outcome. | The routine examination of semen, which assesses sperm concentration, percentage motility and morphology, does not identify subtle defects in sperm chromatin architecture. The focus on the genomic integrity of the male gamete has intensified recently due to the growing concern that genetic diseases may be transmitted v... |
2,339,828 | [Mental retardation]. | This paper describes recent advances in the neurobiology of mental retardation, emphasizing new diagnostic resources provided by cytogenetics, molecular testing, and neuroimaging.</AbstractText>MEDLINE (January 2000 through October 2003), using the following key words: mental retardation, developmental disability, chil... |
2,339,829 | Methylation assay by nucleotide incorporation: a quantitative assay for regional CpG methylation density. | Although the aberrant methylation in CpG islands is of great interest as a causative role in human malignancies, it has been very difficult to accurately determine methylation density. Here we report a novel microplate-based quantitative methylation assay, designated MANIC, for a region containing a number of CpG sites... |
2,339,830 | Natural settings trials--improving the introduction of clinical genetic tests. | Approaches to genetic testing differ in the research setting and the clinical setting. More data are needed to develop approaches that will best facilitate the use of new genetic tests in the clinical setting, especially settings where genetic testing has not been widely used, such as in primary care. Furthermore, data... |
2,339,831 | Evidence for ecology's role in speciation. | A principal challenge in testing the role of natural selection in speciation is to connect the build-up of reproductive isolation between populations to divergence of ecologically important traits. Demonstrations of 'parallel speciation', or assortative mating by selective environment, link ecology and isolation, but t... |
2,339,832 | Genetic and phenotype changes following in vitro interactions between Helicobacter pylori strains. | The purpose of the present paper was to determine whether in vitro interaction between different Helicobacter pylori strains leads to changes in antibiotic susceptibility, cagA, vacAM2 and DNA fingerprint patterns.</AbstractText>Three H. pylori strains with known antibiotic susceptibility, cagA, vacAM2 status and polym... |
2,339,833 | [Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene]. | Autosomal dominant oculopharyngeal muscular dystrophy (OPMD), with late onset due to ptosis and/or dysphagia, is caused by short (GCG)8-13 triplet-repeat expansions in the polyadenylation binding protein 2 (PABP2) gene, which is localized in chromosome 14q11. The severity of the dominant OPMD as well as the number of e... |
2,339,834 | In silico mapping of quantitative trait loci in maize. | Quantitative trait loci (QTL) are most often detected through designed mapping experiments. An alternative approach is in silico mapping, whereby genes are detected using existing phenotypic and genomic databases. We explored the usefulness of in silico mapping via a mixed-model approach in maize (Zea mays L.). Specifi... |
2,339,835 | The allelic variant of LAR gene promoter -127 bp T-->A is associated with reduced risk of obesity and other features related to insulin resistance. | Insulin resistance, which is pathogenic for type 2 diabetes (T2D), is under the control of largely unknown genetic determinants. LAR, a protein-tyrosine phosphatase which inhibits insulin signalling, is overexpressed in animal and human models of insulin resistance. We studied the entire sequence of the LAR gene by SSC... |
2,339,836 | Cancer genetics services: a systematic review of the economic evidence and issues. | This paper systematically reviews the published economic research upon cancer genetics services for families at risk of having familial breast, ovarian or colorectal cancer. A structured search was made of 15 electronic databases. The search identified 1030 papers, of which 31 fulfilled the inclusion criteria, two were... |
2,339,837 | [Diagnosis and management of asymptomatic MEN 2 gene carriers]. | RET genetic testing affords valid clinical strategies in the diagnosis and management of MEN 2. For at risk family members, the test provides accurate diagnosis of gene carriers and best chance of cure of medullary thyroid carcinoma by prophylactic total thyroidectomy. The test results, however, may have medical, psych... |
2,339,838 | Linkage disequilibrium mapping via cladistic analysis of single-nucleotide polymorphism haplotypes. | We present a novel approach to disease-gene mapping via cladistic analysis of single-nucleotide polymorphism (SNP) haplotypes obtained from large-scale, population-based association studies, applicable to whole-genome screens, candidate-gene studies, or fine-scale mapping. Clades of haplotypes are tested for associatio... |
2,339,839 | Genomic approaches to antibacterial discovery. | This chapter describes two key strategies for the discovery of new antibacterial agents and illustrates the critical role played by genomics in each. The first approach is genomic target-based screening. Comparative genomics and bioinformatics are used to identify novel, selective antibacterial targets of the appropria... |
2,339,840 | A population-based study of morbidity and mortality in mannose-binding lectin deficiency. | Reduced levels of wild-type mannose-binding lectin (MBL) may increase susceptibility for infection, other common diseases, and death. We investigated associations between MBL deficiency and risk of infection, other common diseases, and death during 24, 24, and 8 yr of follow-up, respectively. We genotyped 9,245 individ... |
2,339,841 | Unexplained hypereosinophilia and the need for cytogenetic and molecular genetic analyses. | Idiopathic hypereosinophilic syndrome (HES) is a diagnosis made after the exclusion of other causes of eosinophilia. However, differentiation of idiopathic HES from eosinophilic leukemia is sometimes difficult. In some cases, these diagnoses can be differentiated by cytogenetic or molecular findings, as illustrated in ... |
2,339,842 | Context-specific memory and apolipoprotein E (ApoE) epsilon 4: cognitive evidence from the NIMH prospective study of risk for Alzheimer's disease. | The aim of the study was to determine whether the epsilon 4 allele of the apolipoprotein E (ApoE) gene was associated primarily with context-specific memory among individuals at genetic risk for developing Alzheimer's disease. The effect of ApoE status on comprehensive neuropsychological results was examined in 176 hea... |
2,339,843 | Impact of candidate sire number and sire relatedness on DNA polymorphism-based measures of exclusion probability and probability of unambiguous parentage. | Genetic paternity testing can provide sire identity data for offspring when females have been exposed to multiple males. However, correct paternity assignment can be influenced by factors determined in the laboratory and by size and genetic composition of breeding groups. In the present study, DNA samples from 26 commi... |
2,339,844 | Verification of selective DNA pooling methodology through identification and estimation of the DGAT1 effect. | The discovery of markers linked to genes that are responsible for traits of interest to the dairy industry might prove useful because they could aid in selection and breeding decisions. We have developed a selective DNA pooling methodology to allow us to efficiently screen the bovine genome in order to find genes respo... |
2,339,845 | Equine laminitis: increased transcription of matrix metalloproteinase-2 (MMP-2) occurs during the developmental phase. | The dysadhesion and destruction of lamellar basement membrane of laminitis may be due to increased lamellar metalloproteinase activity. Characterising lamellar metalloproteinase-2 (MMP-2) and locating it in lamellar tissues may help determine if laminitis pathology is associated with increased MMP-2 transcription.</Abs... |
2,339,846 | Denaturing high-performance liquid chromatography (DHPLC) as a reliable high-throughput prescreening method for aberrant promoter methylation in cancer. | Aberrant promoter hypermethylation of CpG dinucleotides is a frequent and significant mechanism of tumor suppressor gene (TSG) silencing in cancer. As increasing numbers of downregulated putative TSGs are emerging from large-scale expression profiling studies, high-throughput techniques are needed to screen for hyperme... |
2,339,847 | Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.<Pagination><StartPage>582</StartPage><EndPage>589</EndPage><MedlinePgn>582-9</MedlinePgn></Pagination><Abstract><AbstractText>EYA1 mutations cause branchio-oto-renal (BOR) syndrome. These mutations include single nucleotide tran... | EYA1 mutations cause branchio-oto-renal (BOR) syndrome. These mutations include single nucleotide transitions and transversions, small duplications and deletions, and complex genomic rearrangements. The last cannot be detected by coding sequence analysis of EYA1. We sought to refine the clinical diagnosis of BOR syndro... |
2,339,848 | Risk and protective effects of the APOE gene towards Alzheimer's disease in the Kungsholmen project: variation by age and sex. | The risk effect of APOE epsilon 4 allele for Alzheimer's disease is acknowledged, whereas the putative protective effect of epsilon 2 allele remains in debate.</AbstractText>To investigate whether those inconsistent findings may be attributable to differences in age and sex composition of the study populations.</Abstra... |
2,339,849 | A mixture model for estimating the local false discovery rate in DNA microarray analysis. | Statistical methods based on controlling the false discovery rate (FDR) or positive false discovery rate (pFDR) are now well established in identifying differentially expressed genes in DNA microarray. Several authors have recently raised the important issue that FDR or pFDR may give misleading inference when specific ... |
2,339,850 | Gene-expression profiling of the early stages of MOG-induced EAE proves EAE-resistance as an active process. | Experimental autoimmune encephalomyelitis (EAE) induced by myelin oligodendrocyte glycoprotein (MOG) is a well-established animal model of multiple sclerosis (MS) in rodents. It reflects the wide spectrum of disease pathology and serves as a valuable tool for studying the pathogenesis and for testing new therapies of M... |
2,339,851 | Accommodating risk: responses to BRCA1/2 genetic testing of women who have had cancer. | The relationship between risk awareness and anxiety has been the subject of extensive theoretical debate and empirical research. Previous studies of women with a family history of hereditary breast and ovarian cancer suggest that both healthy at-risk women and former cancer patients report increased anxiety upon learni... |
2,339,852 | Labelfree fully electronic nucleic acid detection system based on a field-effect transistor device. | The labelfree detection of nucleic acid sequences is one of the modern attempts to develop quick, cheap and miniaturised hand-held devices for the future genetic testing in biotechnology and medical diagnostics. We present an approach to detect the hybridisation of DNA sequences using electrolyte-oxide-semiconductor fi... |
2,339,853 | A Drosophila temperature-sensitive seizure mutant in phosphoglycerate kinase disrupts ATP generation and alters synaptic function. | A novel paralytic mutant, nubian, was identified in a behavioral screen for conditional temperature-sensitive seizure mutants in Drosophila melanogaster. nubian mutants display reduced lifespan, abnormal motor behavior, altered synaptic structure, and defective neurotransmitter release. The nubian mutant disrupts phosp... |
2,339,854 | A cytogeneticist's perspective on genomic microarrays. | The identification of cytogenetic imbalance is an important component of clinical genetics. About 1 in 154 newborns has a chromosome abnormality. Conventional cytogenetic analysis has enabled the identification of microscopic alterations of the chromosomes. The development of fluorescence in situ hybridization (FISH) a... |
2,339,855 | Prevalence of alleles associated with HIV resistance in Russia. | Genetic polymorphisms of CCR5, CCR2, and SDF1 genes have been associated with resistance during human immunodeficiency virus type 1 (HIV-1) infection and disease progression. In the present report, we studied the frequency and co-occurrence of CCR5Delta32, CCR5-59029A/G, CCR2-64I, and SDF1-3'A allelic variants among HI... |
2,339,856 | Comparison of the validity of preimplantation genetic diagnosis for embryo chromosomal anomalies by fluorescence in situ hybridization on one or two blastomeres. | Is it necessary to analyze two blastomeres in preimplantation genetic diagnosis (PGD) by fluorescence in situ hybridization (FISH) or is one blastomere enough, as suggested by some teams? We analyzed the sensitivity (Se), specificity (Sp), positive predictive value (PPV), negative predictive value (NPV), false positive... |
2,339,857 | Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever. | Familial Mediterranean fever (FMF) is an autosomal recessive inflammatory disorder predominantly affecting people living in or originating from areas around the Mediterranean Sea. It is caused by a number of mutations within the MEFV gene, which differently affect the severity of the disease phenotype. Because patients... |
2,339,858 | Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes. | Mutations in the X chromosome hypoxanthine-guanine phosphoribosyl transferase (HPRT) gene are responsible for Lesch-Nyhan syndrome and related diseases in humans. Because the gene is on the X chromosome, males are affected and females in the families are at risk of being carriers of the mutation. Because there are so m... |
2,339,859 | Diagnostic test for Y chromosome microdeletion screening in male infertility. | Despite the current lack of understanding the mechanism of deleterious effects of Y chromosome microdeletions and their prognostic influence on male subfertility, the Y chromosome microdeletion test is widely used in the diagnostic evaluation of male subfertility. However, currently used diagnostic schemes have not bee... |
2,339,860 | Racial and ethnic variations in knowledge and attitudes about genetic testing. | This study was designed to shed light on whether differences in utilization of genetic testing by African-Americans, Latinos, and non-Hispanic Whites are due primarily to different preferences, or whether they instead reflect other values and beliefs or differential access. It explores the values, attitudes, and belief... |
2,339,861 | Non-uptake of predictive genetic testing for BRCA1/2 among relatives of known carriers: attributes, cancer worry, and barriers to testing in a multicenter clinical cohort. | BRCA1/2 test decliners/deferrers have received almost no attention in the literature and this is the first study of this population in the United Kingdom. The aim of this multicenter study is to examine the attributes of a group of individuals offered predictive genetic testing for breast/ovarian cancer predisposition ... |
2,339,862 | Diagnostic genetic testing for hereditary breast and ovarian cancer in cancer patients: women's looking back on the pre-test period and a psychological evaluation. | The aim of this retrospective, exploratory study was to gain insight into how cancer patients who had a diagnostic genetic test for hereditary breast and/or ovarian cancer looked back on the pre-test period and to gain insight into the psychological impact of the genetic test result. Data were collected by semistructur... |
2,339,863 | Impact of genetic testing for breast-ovarian cancer susceptibility. | Previously, we have reported a clinical trial in which any woman in a defined geographic region who had a qualifying family history and who was referred by her physician or who was identified through a regional cancer registry was offered free genetic counseling, BRCA testing, and recommendations based on test results.... |
2,339,864 | Genetic equilibrium despite habitat fragmentation in an Afrotropical bird. | We examined the effects of habitat fragmentation of the white-starred robin Pogonocichla stellata metapopulation in the Taita Hills archipelago, a hotspot for biodiversity which was fragmented approximately 40 years ago. Using seven microsatellite markers, we analysed the robin's genetic structure and tested for equili... |
2,339,865 | Past and current gene flow in the selfing, wind-dispersed species Mycelis muralis in western Europe. | The distribution of genetic diversity in Mycelis muralis, or wall lettuce, was investigated at a European scale using 12 microsatellite markers to infer historical and contemporary forces from genetic patterns. Mycelis muralis has the potential for long-distance seed dispersal by wind, is mainly self-pollinated, and ha... |
2,339,866 | Tumour necrosis factor receptor superfamily member 6 gene mutation detection by denaturing high-performance liquid chromatography. | Denaturing high-performance liquid chromatography (DHPLC) was evaluated as a tool for diagnostic screening of polymorphisms in the tumour necrosis factor receptor superfamily member 6 (TNFRSF6) also known as CD95, Apo-1 or Fas gene. Exons 1-9 of the TNFRSF6 gene were amplified from genomic DNA of 38 individuals, of whi... |
2,339,867 | The dark phase improves genetic discrimination for some high throughput mouse behavioral phenotyping. | Dark-phase testing has previously been shown by others to improve the outcome of some 'classical' behavior test situations. However, the importance of such ethological correctness and the effect of the light/dark cycle on high throughput behavioral testing situations such as 'mutant vs. wild type' and 'screening', are ... |
2,339,868 | 'I don't feel like a diabetic any more': the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing. | Hepatocyte nuclear factor-1alpha (HNF-1alpha) maturity onset diabetes of the young (MODY) is the commonest cause of monogenic diabetes but is frequently misdiagnosed as type 1 diabetes. The availability of genetic testing in MODY has improved diagnosis. Sulphonylurea sensitivity in HNF-1alpha patients means that those ... |
2,339,869 | [Hemochromatosis: the most common of rare diseases]. | Familial (hereditary) haemochromatosis (HH) is an iron storage disorder characterized by an increased intestinal absorption of iron and its accumulation in numerous tissues. The disease generates an iron overload with tissue damages also seen in haematologic disturbances (with dyserythropoiesis and haemolysis) and hepa... |
2,339,870 | Not all maps are equal: GIS and spatial analysis in epidemiology. | Recently, Geographical Information System (GIS) has emerged as an innovative and important component of many projects in public health and epidemiology. One of the most useful functions of GIS in epidemiology continues to be its utility in basic mapping. GIS may also involve more sophisticated spatial analysis of disea... |
2,339,871 | Two independent RB1-inactivating mutations in peripheral blood DNA of a hereditary retinoblastoma patient. | We report the presence of a hemizygous inactivating germ-line RB1 mutation (a recurrent g.78250C-->T transition, resulting in a stop codon in exon 17) in peripheral blood DNA from a patient with hereditary bilateral retinoblastoma. Hemizygosity was established by sequencing that showed no traces of the wild-type C n... |
2,339,872 | Estimating the survival benefits gained from providing national cancer genetic services to women with a family history of breast cancer. | The aim of this paper is to compare a service offering genetic testing and presymptomatic surveillance to women at increased risk of developing breast cancer with its predecessor of no service at all in terms of survival and quality-adjusted survival (QALYs) by means of a Markov cohort chain simulation model. Genetic a... |
2,339,873 | BRCA1/2 predictive testing: a study of uptake in two centres. | Differences in reported uptake of genetic testing for mutations in BRCA1 and BRCA2 can largely be accounted for by different methodologies and by studying research vs nonresearch families. In our joint study of 75 nonresearch families from two UK centres in which at least 3 years had elapsed since the initial proband h... |
2,339,874 | Use of human-derived liver cell lines for the detection of environmental and dietary genotoxicants; current state of knowledge. | This article gives an overview of the results of genotoxicity tests, which have been conducted within the last 5 years with the human liver cell line HepG2. It is an update of an earlier review from 1998 (by Knasmüller et al.). In addition, a number of publications are discussed which are relevant for the use of h... |
2,339,875 | DNA-based carrier screening in the Ashkenazi Jewish population. | Several relatively rare genetic diseases are found at greater frequencies in Ashkenazi Jewish populations. Most of these conditions are untreatable and shorten life expectancy. Genetic screening using molecular detection of a few common mutations for each of these diseases facilitates their prevention by identification... |
2,339,876 | Candidate genetic polymorphisms for asthma in Chinese schoolchildren from Hong Kong. | Polymorphisms in several genes have been associated with asthma, atopy and bronchial hyperresponsiveness in white and Japanese populations. In this study we tested for associations of 11 polymorphisms with wheeze and asthma in 10-year-old Chinese schoolchildren.</AbstractText>The subjects were 107 children who had whee... |
2,339,877 | Survey of embryonic stem cell line source strains in the water maze reveals superior reversal learning of 129S6/SvEvTac mice. | The availability of pluripotent embryonic stem (ES) cells for gene targeting has resulted in laboratory mice becoming important animal models of human neurological disease. Inbred strains of mice differ in many behavioural phenotypes, such that the same gene mutation can appear to have different phenotypic effects when... |
2,339,878 | Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues. | The Fragile X (FRAXA) syndrome is the most common cause of familial (monogenic) mental retardation and is widespread in human populations. This syndrome is characterised by an unusual mode of transmission for an X-linked disease. In affected families, one frequently finds clinically normal transmitting males, whose dau... |
2,339,879 | Genetic testing in endocrinology: lessons learned from experience with multiple endocrine neoplasia type 2 (MEN2). | Multiple endocrine neoplasia type 2 (MEN2) is a syndrome characterized by medullary thyroid carcinoma (MTC), unilateral or bilateral pheochromocytoma and hyperparathyroidism. Familial MTC (FMTC) is a subvariant of MEN2 in which affected individuals develop MTC without other manifestations of MEN2. The identification of... |
2,339,880 | Integration of genetics into medical practice. | It has been a century since the first human genetic disorders were recognized, but only recently have there been any prospects that the genetic approach would become integral to medical practice. Throughout most of the 20th century, medical genetics has focused on rare monogenic and chromosomal disorders. There were ma... |
2,339,881 | Four-color multiplex 5' nuclease assay for the simultaneous detection of the factor V Leiden and the prothrombin G20210A mutations. | We developed a real-time multiplex four-color assay for the simultaneous detection of the factor V Leiden (FVL) and prothrombin (PT) G20210A mutations in one closed tube using a single thermocycling protocol. The assay combines the power of multiplex PCR with the specificity provided by allele-specific oligonucleotide ... |
2,339,882 | [Genetics of hypophosphatasia]. | Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bone ... |
2,339,883 | Primary aldosteronism--careful investigation is essential and rewarding. | Once considered rare, primary aldosteronism (PAL) is now regarded as the commonest potentially curable and specifically treatable form of hypertension. At Greenslopes Hospital Hypertension Unit (GHHU), the decision in 1991 to screen all (and not just hypokalemic or resistant) hypertensives by aldosterone/renin ratio (A... |
2,339,884 | Communicating risk in prenatal genetic testing. | Prenatal testing for Down syndrome and neural tube defects has become routine, and testing for other genetic conditions is becoming commonplace. Counseling about these tests involves a discussion of risk information, so pregnant women and their partners can use the information effectively when they make choices about t... |
2,339,885 | Genetic testing for breast and ovarian cancer susceptibility: a family experience. | The purpose of this article is to provide an overview of current knowledge concerning genetic testing for breast and ovarian cancer susceptibility. This overview includes 1) a brief history of genetic testing for breast and ovarian cancer susceptibility, 2) a review of factors that midwives and other health care provid... |
2,339,886 | Bayesian class discovery in microarray datasets. | A novel approach to class discovery in gene expression datasets is presented. In the context of clinical diagnosis, the central goal of class discovery algorithms is to simultaneously find putative (sub-)types of diseases and to identify informative subsets of genes with disease-type specific expression profile. Contra... |
2,339,887 | Thalassemia screening among Royal Thai Army medical cadets. | Thalassemia, common in Thailand, varies from mild to severe anemia, resulting in work inefficiency, particularly during exertion. Therefore, it is important for military cadets to be screened. The objective of this study was to screen for thalassemia and hemoglobinopathies among Royal Thai Army medical cadets. We teste... |
2,339,888 | Colorectal cancer chemoprevention--an overview of the science. | The development and dissemination of sophisticated detection technologies have recently exposed the high prevalence of preinvasive colorectal neoplasia in the adult U.S. population. Although cancer screening and surveillance provide opportunities for risk stratification, they achieve risk reduction only when coupled wi... |
2,339,889 | Linkage analysis of a complex disease through use of admixed populations. | Linkage disequilibrium arising from the recent admixture of genetically distinct populations can be potentially useful in mapping genes for complex diseases. McKeigue has proposed a method that conditions on parental admixture to detect linkage. We show that this method tests for linkage only under specific assumptions... |
2,339,890 | [Complex craniofacial synostoses]. | Complex craniofacial synostosis is a group of rare genetic disorders characterized by premature closure of the sutures in the craniofacial skeleton and which to varying degrees affects the extremities.</AbstractText>On the basis of relevant literature, we present a review of syndromal craniofacial synostosis.</Abstract... |
2,339,891 | Health economics and genetic service development: a familial cancer genetic example. | Advances in genetics are allowing a greater number of clinical genetics services to be offered to individuals with family histories of particular diseases. It is important that such services are not allowed to proliferate before they have been properly evaluated in terms of both their clinical and cost-effectiveness. A... |
2,339,892 | BRCA1 testing with definitive results: a prospective study of psychological distress in a large clinic-based sample. | To examine the short-term psychological impact of receiving definite results concerning BRCA1 mutation status in a clinical setting.</AbstractText>A test was offered for consecutive sample of 395 women from 53 families with demonstrated BRCA1 mutations. The sample included 50 women with a personal history of cancer, an... |
2,339,893 | BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect. | The purpose of this study was to determine whether two mutations detected frequently in a population of breast and/or ovarian cancer families originating from the northeastern part of France could be due to a founder effect.</AbstractText>83 index cases of families ascertained to have a familial breast and/or ovarian c... |
2,339,894 | The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers. | Few mutations have been described in BRCA1 and BRCA2 in high-risk non-Ashkenazi Jews. In a Libyan family the 1100delAT BRCA1 mutation was detected and the 8765delAG BRCA2 mutation was previously described in two Jewish-Yemenite-families. In this study, the rate of these mutations in high-risk Jews of North African and ... |
2,339,895 | Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness. | Deafness is a complex disorder that is affected by a high number of genes and environmental factors. Recently, enormous progress has been made in nonsyndromic deafness research, with the identification of 90 loci and 33 nuclear and 2 mitochondrial genes involved (http://dnalab-www.uia.ac.be/dnalab/hhh/). Mutations in t... |
2,339,896 | ART in recurrent miscarriage: preimplantation genetic diagnosis/screening or surrogacy? | Recently, assisted reproductive techniques have been used to prevent further miscarriages in women with recurrent miscarriage. One approach uses either screening or diagnosis of embryonic chromosomes prior to embryo replacement [preimplantation genetic screening (PGS)/preimplantation genetic diagnosis (PGD)]. The secon... |
2,339,897 | Are you my mother? Bayesian phylogenetic inference of recombination among putative parental strains. | Reconstructing evolutionary relationships using Bayesian inference has become increasingly popular due to the ability of Bayesian inference to handle complex models of evolution. In this review we concentrate on inference of recombination events between strains of viruses when these events are sporadic, ie rare relativ... |
2,339,898 | Clinically validated benchmarking of normalisation techniques for two-colour oligonucleotide spotted microarray slides. | Acquisition of microarray data is prone to systematic errors. A correction, called normalisation, must be applied to the data before further analysis is performed. With many normalisation techniques published and in use, the best way of executing this correction remains an open question. In this study, a variety of sin... |
2,339,899 | Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients. | Niemann-Pick disease type C (NP-C) is an autosomal recessive lipid-storage disease that is characterized by progressive neurodegeneration and hepatosplenomegaly. Since identification of the NPC1 gene in 1997, a total of 120 disease-causing mutations have been reported. In this study, two novel mutations were identified... |
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