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2,338,500 | Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical Trials Group study. | Efavirenz is an effective antiretroviral agent, but central nervous system side effects occur commonly, and population (racial) differences in pharmacokinetics and response have been reported. Efavirenz is metabolized by cytochrome P4502B6 (CYP2B6). We investigated whether polymorphisms in CYP2B6, CYP3A4, CYP3A5, and M... |
2,338,501 | Safety and immunogenicity of adenovirus-vectored nasal and epicutaneous influenza vaccines in humans. | The increasing number and density of the human population, the emergence of lethal influenza strains, and the potential use of designer influenza virus as a bioweapon, collectively highlight a critical need for more rapid production of influenza vaccines and less invasive means of delivery. We have developed a nonrepli... |
2,338,502 | Populational genetic structure of free-living maned wolves (Chrysocyon brachyurus) determined by proteic markers. | Electrophoretic analysis of presumptive twenty gene loci products was conducted in hemolisates and plasma samples of twenty-eight maned wolves (Chrysocyon brachyurus) from an area in northeastern São Paulo State, Brazil. The area sampled was divided into three sub-areas, with the Mogi-Guaçu and Pardo rivers r... |
2,338,503 | Visualizing the laboratory mouse: capturing phenotype information. | A concerted effort to develop myriad new phenotypic alleles through mutagenesis programs presents new challenges for the biomedical community and for the informatics infrastructure needed to support this work. To handle and co-ordinate large programs of treatment, breeding, and sequential or longitudinal testing for a ... |
2,338,504 | Risk of wrist fracture in women is heritable and is influenced by genes that are largely independent of those influencing BMD. | Using a classical twin design study, we estimated the genetic contribution to liability of wrist fracture in women to be statistically and clinically significant. BMD is highly heritable, but statistical models showed very little overlap of shared genes between the two traits.</AbstractText>Studies have observed contra... |
2,338,505 | Improved statistical tests for differential gene expression by shrinking variance components estimates. | Combining information across genes in the statistical analysis of microarray data is desirable because of the relatively small number of data points obtained for each individual gene. Here we develop an estimator of the error variance that can borrow information across genes using the James-Stein shrinkage concept. A n... |
2,338,506 | Strategies and methods for research on sex differences in brain and behavior. | Female and male brains differ. Differences begin early during development due to a combination of genetic and hormonal events and continue throughout the lifespan of an individual. Although researchers from a myriad of disciplines are beginning to appreciate the importance of considering sex differences in the design a... |
2,338,507 | Genetic consequences of many generations of hybridization between divergent copepod populations. | Crosses between populations of the copepod Tigriopus californicus typically result in outbreeding depression. In this study, replicate hybrid populations were initiated with first generation backcross hybrids between two genetically distinct populations from California: Royal Palms (RP) and San Diego (SD). Reciprocal F... |
2,338,508 | On the estimation of genome-wide heterozygosity using molecular markers. | Coltman and Slate (2003) recently performed a meta-analysis on studies that investigated the association between genetic variation at microsatellite loci and phenotypic trait variation. One factor not explicitly addressed in their meta-analysis is the actual estimation of genome-wide heterozygosity via molecular marker... |
2,338,509 | Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. | Pallister-Hall syndrome (PHS) is a rare, single-gene, malformation syndrome that includes central polydactyly, hypothalamic hamartoma, bifid epiglottis, endocrine dysfunction, and other anomalies. The syndrome has variable clinical manifestations and is inherited in an autosomal dominant pattern. We sought to determine... |
2,338,510 | FMR1 alleles in Tasmania: a screening study of the special educational needs population. | The distribution of fragile X mental retardation-1 (FMR1) allele categories, classified by the number of CGG repeats, in the population of Tasmania was investigated in 1253 males with special educational needs (SEN). The frequencies of these FMR1 categories were compared with those seen in controls as represented by 57... |
2,338,511 | Assessing ethnicity in preconception counseling: genetics--what nurse practitioners need to know. | To define and discuss five genetic disorders--Tay-Sachs, sickle cell anemia, Canavan's disease, thalassemia, and cystic fibrosis (CF)--and to explain the importance of the nurse practitioner's (NP's) assessment of clients' ethnicity during preconception counseling, which should address these genetic conditions.</Abstra... |
2,338,512 | Identification of differentially regulated genes during elongation and early implantation in the ovine trophoblast using complementary DNA array screening. | Following hatching, pre-elongated conceptuses undergo elongation by intense proliferation, until implantation. We investigated the changes in gene expression associated with these physiological events using human cDNA arrays containing 2370 known genes. Comparison of pre-elongated, elongated, and implanting trophoblast... |
2,338,513 | Heritability of insulin secretion, peripheral and hepatic insulin action, and intracellular glucose partitioning in young and old Danish twins. | The etiology of type 2 diabetes is multifactorial, including genetic as well as pre- and postnatal factors that influence several different defects of glucose homeostasis, primarily in muscle, beta-cells, and liver. In the present twin study, we report heritability estimates (h(2)) for measures of insulin secretion, in... |
2,338,514 | Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation. | The background to this study began with the reporting of two Japanese kindreds with the S305N tau mutation. Although the pathological findings in the autopsied cases were well characterized, only limited ante-mortem data were presented. In this study, longitudinal characterization was carried out in two siblings of Eur... |
2,338,515 | Medical management of childhood hearing loss. | Hearing loss in children is common. Advances in the identification of infectious diseases at birth or in utero, genetic testing, and diagnostic imaging now permit many infants and children to be identified and treated sooner. Treatment and rehabilitation should be instituted early so that the effects of hearing loss on... |
2,338,516 | Genomewide scan for affective disorder susceptibility Loci in families of a northern Swedish isolated population. | We analyzed nine multigenerational families with ascertained affective spectrum disorders in northern Sweden's geographically isolated population of Vasterbotten. This northern Swedish population, which originated from a limited number of early settlers approximately 8,000 years ago, is genetically more homogeneous tha... |
2,338,517 | The strength of indecisiveness: oscillatory behavior for better cell fate determination. | Oscillatory behavior is very common in many cellular responses. Recently, two pathways involved in response to cell stress, the p53 and nuclear factor kappa B signaling pathways, have been found to show oscillatory behavior. At first sight, there would seem to be no reason for signaling pathways of this type to require... |
2,338,518 | Methodological aspects of the genetic dissection of gene expression. | Dissection of the genetics underlying gene expression utilizes techniques from microarray analyses as well as quantitative trait loci (QTL) mapping. Available QLT mapping methods are not tailored for the highly automated analyses required to deal with the thousand of gene transcripts encountered in the mapping of QTL a... |
2,338,519 | Human immunodeficiency virus type 1 clade B superinfection: evidence for differential immune containment of distinct clade B strains. | Sequential infection with different strains of human immunodeficiency virus type 1 (HIV-1) is a rarely identified phenomenon with important implications for immunopathogenesis and vaccine development. Here, we identify an individual whose good initial control of viremia was lost in association with reduced containment ... |
2,338,520 | Neutralizing antibodies elicited by immunization of monkeys with DNA plasmids and recombinant adenoviral vectors expressing human immunodeficiency virus type 1 proteins. | Immunization with recombinant serotype 5 adenoviral (rAd5) vectors or a combination of DNA plasmid priming and rAd5 boosting is known to elicit potent immune responses. However, little data exist regarding these immunization strategies and the development of anti-human immunodeficiency virus type 1 (HIV-1) neutralizing... |
2,338,521 | The current clinical value of genomic instability. | Clinical Oncologists have largely ignored the debate over genetic instability in human cancers. It is clear that genetic lesions themselves provide valuable information in the treatment of patients with cancer and those genetic lesions can be exploited successfully as therapeutic targets. Whether the mechanisms resulti... |
2,338,522 | MTHFR C677T gene mutation as a risk factor for arterial stroke: a hospital based study. | Elevated homocysteine level is an independent risk factor for ischemic stroke, thrombotic and cardiovascular diseases. The enzyme methylenetetrahydrofolate reductase (MTHFR) plays a crucial role in regulating the levels of homocysteine. A C677T mutation in this gene results in reduced activity. Sixty-nine patients with... |
2,338,523 | Optic neuritis, multiple sclerosis and human leukocyte antigen: results of a 4-year follow-up study. | In the present study the relation between human leukocyte antigen (HLA), optic neuritis (ON) and multiple sclerosis (MS) has been investigated in 56 Iranian patients (46 females and 10 males). HLA-A and -B typing by microlymphocytotoxicity method and HLA-DRB, DQA and DQB by polymerase chain reaction based on sequence s... |
2,338,524 | HLA class II allele typing using DNA obtained from human fingernail clipping material. | Obtaining deoxyribonucleic acid (DNA), is the starting point for most genetic analysis. Nail material constitutes a source of DNA of easy access. This communication reports DNA extraction from fresh nail clipping material, by a combined extraction method, and its use in the typing of HLA-class II genes. Nail clipping m... |
2,338,525 | The history of a nearctic colonization: molecular phylogenetics and biogeography of the Nearctic toads (Bufo). | Previous hypotheses of phylogenetic relationships among Nearctic toads (Bufonidae) and their congeners suggest contradictory biogeographic histories. These hypotheses argue that the Nearctic Bufo are: (1) a polyphyletic assemblage resulting from multiple colonizations from Africa; (2) a paraphyletic assemblage resultin... |
2,338,526 | Short- and long-term impact of receiving genetic mutation results in women at increased risk for hereditary breast cancer. | Forty-seven unaffected women from high-risk breast cancer families who had received results for hereditary breast/ovarian predisposition genes between 1 month and 5 years ago were interviewed regarding their experiences. Women responded to open-ended questions. The initial emotional turmoil reported by most was general... |
2,338,527 | Preimplantation genetic diagnosis for Niemann-Pick disease type B. | Acid sphingomyelinase (ASM) deficient Niemann-Pick disease (NPD) is an autosomal recessive disorder caused by mutations in the ASM gene (SMPD1). More than 70 different mutations have been reported in this gene. NPD type B is the most common type in Saudi Arabia with a frequency of 1:40 000 to 1:100 000. The phenotype o... |
2,338,528 | Genotoxicity testing of Plantago major extracts in somatic cells of Drosophila melanogaster. | Plantago major is used in many parts of the world for the treatment of diseases and to promote the healing of wounds. In the present study, the somatic mutation and recombination test (SMART) in Drosophila melanogaster was used to evaluate the genotoxic activity of an aqueous extract of P. major. The following Drosophi... |
2,338,529 | Examination of candidate genes in language disorder: a model of genetic association for treatment studies. | The purpose of this review is to provide a model for studying genetic association of response to intervention in child language disorders. In addition to a theoretical overview and review of different approaches to studying candidate genes, a specific methodology for completing this type of analysis is presented. The g... |
2,338,530 | Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21. | Asthma affects nearly 14 million people worldwide and has been steadily increasing in frequency for the past 50 years. Although environmental factors clearly influence the onset, progression, and severity of this disease, family and twin studies indicate that genetic variation also influences susceptibility. Linkage of... |
2,338,531 | [Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome]. | Pendred-syndrome is an autosomal recessive disease that is classically characterised by sensorineural hearing loss and enlargement of the thyroid gland. The gene SLC26A4/PDS for the pendred-syndrome has been localised by linkage analysis on chromosome 7q31. This protein is expressed in the inner ear, thyroid gland, kid... |
2,338,532 | [Medullary thyroid carcinoma: clinical and oncological features and treatment]. | Medullary carcinoma of the thyroid (MTC) may be sporadic or may occur on a hereditary basis. Hereditary MTC can occur either alone -- familial MTC (FMTC) -- or as the thyroid manifestation of multiple endocrine neoplasia type 2 (MEN 2) syndromes (MEN 2A and MEN 2B) or other forms. Germ-line mutations in RET cause MEN 2... |
2,338,533 | Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic. | Hereditary nonpolyposis colon cancer (HNPCC) is a Mendelian dominant syndrome of bowel, endometrial, and other cancers and results from germline mutations in mismatch repair (MMR) genes. HNPCC is now best diagnosed on molecular grounds using MMR mutation screening, aided by microsatellite instability (MSI) and immunohi... |
2,338,534 | Detection of C-erb B2 gene amplification in bilharzial associated bladder cancer using fluorescence in situ hybridization. | Gene amplifications are common events in different tumor types and may confer diagnostic, prognostic, or therapeutic information for patient management. Fluorescence in situ hybridization (FISH) represents a standard methodologic approach for testing for this genetic alteration, as it is rapid, reproducible and extreme... |
2,338,535 | Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy. | Nine patients with Duchenne or Becker muscular dystrophy were injected via the radialis muscle with a full-length human dystrophin plasmid, either once with 200 or 600 microg of DNA or twice, 2 weeks apart, with 600 microg of DNA. In the biopsies taken 3 weeks after the initial injection, the vector was detected at the... |
2,338,536 | Trisomy 3 may predict a poor response of gastric MALT lymphoma to Helicobacter pylori eradication therapy. | To investigate the relation of the response to Helicobacter pylori eradication therapy to the depth of tumor invasion and chromosome abnormalities in patients with mucosa-associated lymphoid tissue (MALT) lymphoma and to determine the clinical value of aneuploidy.</AbstractText>We studied 13 patients with localized gas... |
2,338,537 | Treatment of multi-focal colorectal carcinoma metastatic to the liver of immune-competent and syngeneic rats by hepatic artery infusion of oncolytic vesicular stomatitis virus. | Viruses that replicate selectively in cancer cells hold considerable promise as novel therapeutic agents for the treatment of malignancy. We report an orthotopic model of multi-focal colorectal cancer (CRC) metastases in the livers of syngeneic and immune-competent rats, which permitted rigorous testing of oncolytic vi... |
2,338,538 | Recognizing the clinical features of Trisomy 13 syndrome. | Recognition of the clinical features of Trisomy 13 syndrome, a common autosomal trisomy, provides the basis for diagnostic testing and counseling of families. This article provides a systematic guide to physical assessment and photographs to enhance recognition of this genetic disorder. The principles of numerical chro... |
2,338,539 | Rapid detection of VHL exon deletions using real-time quantitative PCR. | Various types of mutations exist that exert an effect on the normal function of a gene. Among these, exon/gene deletions often remain unnoticed in initial mutation screening. Until recently, no fast and efficient methods were available to detect this type of mutation. Molecular detection methods for gene copy number ch... |
2,338,540 | A polymorphism of the mu-opioid receptor gene (OPRM1) and sensitivity to the effects of alcohol in humans. | Recent research has implicated the endogenous opioid system in the development of alcohol use disorders. The A118G polymorphism of the OPRM1 gene has been shown to confer functional differences to mu-opioid receptors, such that the G variant binds beta-endorphin three times more strongly than the A variant. The goal of... |
2,338,541 | Upstream and coding region CYP2C9 polymorphisms: correlation with warfarin dose and metabolism. | To assess whether CYP2C9 alleles other than CYP2C9*2 and *3 are associated with a low-warfarin dose requirement and the relevance of upstream CYP2C9 polymorphisms to dose requirement and metabolism.</AbstractText>CYP2C9 exons, intron-exon boundaries and 3 kb of upstream sequence in 20 patients requiring <or= 1.5 mg ... |
2,338,542 | Multiple endocrine neoplasia syndrome: genetic basis for clinical management. | Multiple endocrine neoplasia (MEN) types 1 and 2 are rare hereditary cancer syndromes expressing a variety of mainly endocrine neoplasias. Improved understanding of the molecular and clinical genetics associated with these lesions will likely enhance the diagnosis and treatment of patients with these diseases.</Abstrac... |
2,338,543 | Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR. | Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of patients. Since most carriers have only one SMN1 gene copy, several SMN1 quantitative analyses have been used for the SMA carrier detection. We developed a reli... |
2,338,544 | Alpha-adducin Gly460Trp polymorphism and essential hypertension in Korea. | Previous studies have suggested that the Gly460Trp polymorphism of the alpha-adducin gene (ADD-1) is associated with salt sensitivity and primary hypertension. The results of linkage or association studies of ADD-1 of different populations are controversial. This study investigated the relationship between the Gly460Tr... |
2,338,545 | Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency. | Neonatal screening for steroid 21-hydroxylase (CYP21) deficiency is performed to identify congenital adrenal hyperplasia (CAH). The immunologic assay for 17alpha-hydroxyprogesterone (17-OHP) has a high rate of false positives. We assessed the potential for increasing the specificity for CAH by use of a second step invo... |
2,338,546 | The Wilms' tumor gene WT1 is a common marker of progenitor cells in fetal liver. | It is well known that the Wilms' tumor gene WT1 plays an important role in cell proliferation and differentiation, and in organ development. In this study, to examine the role of the WT1 gene in lineage determination, fetal liver cells from LacZ-transgenic mice, in which WT1 expression was marked by the expression of t... |
2,338,547 | Oligonucleotide array for detection of common severe determinants of alpha thalassemia. | A simple and an efficient oligonucleotide array was developed to identify common severe determinants of alpha (alpha) thalassemia. A total of 14 probes were designed to detect the most frequently three deletions (-alpha(3.7), -alpha(4.2), -(SEA)) and two non-deletions (alpha(Quong Sze), alpha(Constant Spring)). PCR pro... |
2,338,548 | A power law global error model for the identification of differentially expressed genes in microarray data. | High-density oligonucleotide microarray technology enables the discovery of genes that are transcriptionally modulated in different biological samples due to physiology, disease or intervention. Methods for the identification of these so-called "differentially expressed genes" (DEG) would largely benefit from a deeper ... |
2,338,549 | Full-field ERG, multifocal ERG and multifocal VEP in patients with retinitis pigmentosa and residual central visual fields. | To evaluate (with three different electrophysiological methods) the residual retinal function in a selected group of patients with retinitis pigmentosa and remaining small central visual fields.</AbstractText>Fourteen patients from several different genetic subgroups, who had been followed with visual acuity and visual... |
2,338,550 | Genetic alterations of phosphoinositide 3-kinase subunit genes in human glioblastomas. | Genetic alterations of PI3K (phosphoinositide 3-kinase) subunits have been documented in a number of tumor types, with increased PI3K activity linked to gene amplification and mutation of catalytic subunits, as well as mutations of regulatory subunits. Among high grade gliomas, activation of the PI3K-AKT signaling path... |
2,338,551 | Analyzing the process and content of genetic counseling in familial breast cancer consultations. | A detailed examination of the process of genetic counseling has been identified as a priority area for research by previous authors. This multicenter longitudinal study examined the process and content of genetic counseling in initial consultations with women from high-risk breast cancer families. One hundred and fifty... |
2,338,552 | The interface between the practice of medical genetics and human genetic research: what every genetic counselor needs to know. | Genetic counselors have historically used human genetic research as an advanced information resource for their patients. Most commonly, this has been via access to information provided by gene identification studies in advance of commercial testing. More recently genetic counselors have been participating in human gene... |
2,338,553 | The decision to test in women receiving genetic counseling for BRCA1 and BRCA2 mutations. | Functions of genetic counseling include provision of risk information and provision of support in an effort to assist with decision making. This study examines (1) the relationship among intentions to test, self-reported provision of blood sample, and receipt of test results; (2) the impact of genetic counseling on dis... |
2,338,554 | Decision making with uncertain information: learning from women in a high risk breast cancer clinic. | Patients and practitioners may believe that clinically validated laboratory tests provide definitive information. Genetic counselors know this is not always so, and the possibility of inconclusive genetic test results is often discussed in the pretest counseling session. This added discussion topic prolongs the process... |
2,338,555 | Family environments of women seeking BRCA1/BRCA2 genetic mutation testing: an exploratory analysis. | Although there is some understanding of the shared characteristics and predictors of psychological distress of women participating in hereditary breast and ovarian cancer registries, these same characteristics are only beginning to be identified in research on community women seeking genetic testing for BRCA1/BRCA2 gen... |
2,338,556 | Initiation of reflective frames in counseling for Huntingtons Disease predictive testing. | Genetic professionals and clients are likely to assign different meanings to the extended format of the counseling protocols for predictive testing. In order to facilitate informed, client-centered decisions about the possibility of predictive testing, counselors routinely use the question format to initiate what we ca... |
2,338,557 | Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. | These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselor... |
2,338,558 | Using overall allele-sharing to detect the presence of large-scale data errors and parameter misspecification in sib-pair linkage studies. | Data errors and marker allele frequency misspecification can lead to incorrect inference in linkage analysis. Here we demonstrate the effect of each on an allele-sharing statistic in a sample of sib pairs. In the context of relationship testing, we propose a new test that compares the sample genome-wide sib-pair allele... |
2,338,559 | The size of the chi-square test for the Hardy-Weinberg law. | Many scientific problems can be formulated in terms of a statistical model indexed by parameters, only some of which are of scientific interest and the other parameters, called nuisance parameters, are not of interest in themselves. For testing the Hardy-Weinberg law, a relation among genotype and allele probabilities ... |
2,338,560 | Inherited iron loading: genetic testing in diagnosis and management. | Elucidation of the molecular pathways of iron transport through cells and its control is leading to an understanding of genetic iron loading conditions. The general phenotype of haemochromatosis is iron accumulation in liver parenchymal cells, a raised serum transferrin saturation and ferritin concentration. Four types... |
2,338,561 | The use of subtelomeric probes to study mental retardation. | In this chapter, we focus on the genetic basis of mental retardation (MR), specifically the use of subtelomeric probes to provide new diagnoses in idiopathic MR. We discuss both the background to the clinical demand for diagnoses and the technological advances that culminated in the development of subtelomeric testing ... |
2,338,562 | [Hereditary neuropathy with liability to pressure palsy presenting with an acute inflammatory demyelinating polyneuropathy]. | Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy. It is usually caused by a 1.5 Mb deletion of the PMP22 gene (17p11.2).</AbstractText>We describe the c... |
2,338,563 | Power of microsatellite markers for fingerprinting and parentage analysis in Eucalyptus grandis breeding populations. | We report the genetic analysis of 192 unrelated individuals of an elite breeding population of Eucalyptus grandis (Hill ex Maiden) with a selected set of six highly polymorphic microsatellite markers developed for species of the genus Eucalyptus. A full characterization of this set of six loci was carried out generatin... |
2,338,564 | Major genes affecting ovulation rate in sheep. | Research conducted since 1980 in relation to inheritance patterns and DNA testing of major genes for prolificacy has shown that major genes have the potential to significantly increase the reproductive performance of sheep flocks throughout the world. Mutations that increase ovulation rate have been discovered in the B... |
2,338,565 | Integration of association statistics over genomic regions using Bayesian adaptive regression splines. | In the search for genetic determinants of complex disease, two approaches to association analysis are most often employed, testing single loci or testing a small group of loci jointly via haplotypes for their relationship to disease status. It is still debatable which of these approaches is more favourable, and under w... |
2,338,566 | Parent responses to participation in genetic screening for diabetes risk. | Screening for type 1 diabetes (T1DM) risk in newborns has little negative emotional impact on mothers. In this study, the impact on the mother and the father was evaluated both in the general population and in families with diabetes. All parents with a newborn in Skane, Sweden, were invited to a screening for T1DM risk... |
2,338,567 | [Analysis of polymorphism of ACTBP2 locus in Han population in Chengdu and triplexing of three STR loci]. | To obtain the polymorphism of ACTBP2 locus in Han Chinese in Chengdu and establish the triplexing of three STR loci (DHFRP2,FIBRA and ACTBP2).</AbstractText>Amp-FLP, PAGE and silver stain were used to analyze 147 individuals.</AbstractText>Twenty alleles and 86 genotypes were observed in ACTBP2. The discriminating powe... |
2,338,568 | [Diagnostic value of mitochondrial DNA analysis in chronic progressive external ophthalmoplegia (CPEO)]. | Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial cytopathy presenting with ptosis and external ophthalmoparesis. Mitochondrial disorders are characterized by a broad clinical spectrum and genetic background with marked genotype/phenotype variability. The routine diagnostic work-up usually includes... |
2,338,569 | Genomewide two-generation screens for recessive mutations by ES cell mutagenesis. | Forward genetic mutation screens in mice are typically begun by mutagenizing the germline of male mice with N-ethyl-N-nitrosourea (ENU). Genomewide recessive mutations transmitted by these males can be rendered homozygous after three generations of breeding, at which time phenotype screens can be performed. An alternat... |
2,338,570 | Complete mitochondrial genome sequences of the South american and the Australian lungfish: testing of the phylogenetic performance of mitochondrial data sets for phylogenetic problems in tetrapod relationships. | We determined the complete nucleotide sequences (16403 and 16572 base pairs, respectively) of the mitochondrial genomes of the South American lungfish, Lepidosiren paradoxa, and the Australian lungfish, Neoceratodus forsteri (Sarcopterygii, Dipnoi). The mitochondrial DNA sequences were established in an effort to resol... |
2,338,571 | Uptake of offer to receive genetic information about BRCA1 and BRCA2 mutations in an Australian population-based study. | Research on the utilization of genetic testing services for mutations in BRCA1 and BRCA2 has focused on women with a strong family history of breast and ovarian cancer. We conducted a population-based case-control-family study of Australian women diagnosed with invasive breast cancer before age 40 years, unselected for... |
2,338,572 | Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic Whites. | Data from several countries indicate that 1% to 2% of Ashkenazi Jews carry a pathogenic ancestral mutation of the tumor suppressor gene BRCA1. However, the prevalence of BRCA1 mutations among non-Ashkenazi Whites is uncertain. We estimated mutation carrier prevalence in U.S. non-Hispanic Whites, specific for Ashkenazi ... |
2,338,573 | Utilization of screening and preventive surgery among unaffected carriers of a BRCA1 or BRCA2 gene mutation. | Women who are carriers of BRCA gene mutations have an elevated lifetime risk of developing breast or ovarian cancer. Although a number of risk-reducing options are currently available to mutation carriers, uncertainty exists in terms of their efficacy. A systematic review of the literature was conducted to describe the... |
2,338,574 | Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. | It has recently been shown that loss-of-function mutations of the G protein-coupled receptor (GPR)54 lead to isolated hypogonadotropic hypogonadism (IHH) in mice and humans. Such mutations are thought to be rare, even within the clinical IHH population, and only a handful of alleles have been described, making further ... |
2,338,575 | Population consequences of fipronil and degradates to copepods at field concentrations: an integration of life cycle testing with leslie matrix population modeling. | The predominant data used in ecological risk assessment today are individual-based rather than population-based; yet environmental policies are usually designed to protect populations of threatened species or communities. Most current methods in ecotoxicology are limited by largely logistic/ technology-driven requireme... |
2,338,576 | Microarray genotyping resource to determine population stratification in genetic association studies of complex disease. | We have developed a robust microarray genotyping chip that will help advance studies in genetic epidemiology. In population-based genetic association studies of complex disease, there could be hidden genetic substructure in the study populations, resulting in false-positive associations. Such population stratification ... |
2,338,577 | Guthrie test samples: is the problem solved? | Most babies born in New Zealand have a blood sample taken shortly after birth for the purposes of certain screening tests. The samples are retained indefinitely. This paper considers whether such samples are the property of the child and whether the present changes in the Health (National Cervical Screening Programme) ... |
2,338,578 | Cytogeneticists' stories around the ethics and social consequences of their work: a New Zealand case study. | This paper is based on anthropological research in three New Zealand cytogenetics laboratories involving participant observation carried out over three months and interviews with sixteen cytogeneticists in order to elucidate the distinctive characteristics of their views on the social consequences of their work in pren... |
2,338,579 | APOE genotype, family history of dementia, and Alzheimer disease risk: a 6-year follow-up study. | Both family aggregation and apolipoprotein E (APOE) epsilon4 allele are well-known risk factors for dementia, but the relation between these two factors remains unclear.</AbstractText>To explore whether the risk of dementia and Alzheimer disease (AD) due to a positive family history is explained by APOE genotypes.</Abs... |
2,338,580 | A Leishmania major response locus identified by interval-specific congenic mapping of a T helper type 2 cell bias-controlling quantitative trait locus. | The propensity of naive CD4 T cells to become T helper (Th) type 2 cells correlates with susceptibility to infection by the protozoal parasite Leishmania major. Using genetic linkage analysis, we earlier identified Dice1 as a Th2 cell bias-controlling quantitative trait locus on chromosome 16. Using interval-specific c... |
2,338,581 | Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. | To find the mutation and polymorphism spectrum of TSC1 and TSC2 genes in patients affected with tuberous sclerosis complex from the Indian population.</AbstractText>All coding exons and promoter regions of both TSC genes were screened for mutations and polymorphisms in 24 TSC families using polymerase chain reaction-si... |
2,338,582 | Heterogeneity testing in meta-analysis of genome searches. | Genome searches for identifying susceptibility loci for the same complex disease often give inconclusive or inconsistent results. Genome Search Meta-analysis (GSMA) is an established non-parametric method to identify genetic regions that rank high on average in terms of linkage statistics (e.g., lod scores) across stud... |
2,338,583 | Confirmation of the HPCX prostate cancer predisposition locus in large Utah prostate cancer pedigrees. | Several genetic predisposition loci for prostate cancer have been identified through linkage analysis, and it is now generally recognized that no single gene is responsible for more than a small proportion of prostate cancers. However, published confirmations of these loci have been few, and failures to confirm have be... |
2,338,584 | Familial polyposis coli: clinical manifestations, evaluation, management and treatment. | Familial adenomatous polyposis (FAP) is an autosomal dominant, hereditary colon cancer syndrome that is characterized by the presence of innumerable adenomatous polyps in the colon and rectum. Gardner's syndrome is a variant of FAP, which in addition to the colonic polyps, also presents extracolonic manifestations, inc... |
2,338,585 | A model for GFR alpha 4 function and a potential modifying role in multiple endocrine neoplasia 2. | Mutations of the RET proto-oncogene are found in the majority of patients with the inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN 2). A minority of cases, however, have no detectable RET mutation and there is considerable phenotypic variation within and among MEN 2 families with the same RET mutatio... |
2,338,586 | Asymptomatic microhematuria: an indication of hereditary hemorrhagic telangiectasia? | Hereditary hemorrhagic telangiectasia (HHT) is a genetic angiodysplasia affecting multiple organs. Clinical manifestations include spontaneous and recurrent epistaxis, mucocutaneous telangiectases that bleed easily and arteriovenous malformations in many organs. Despite the anecdotal recommendations of some groups, to ... |
2,338,587 | Cost effectiveness of a new strategy to identify HNPCC patients. | Distinguishing hereditary non-polyposis colorectal cancer (HNPCC) from non-hereditary colorectal cancer (CRC) can increase the life expectancy of HNPCC patients and their close relatives.</AbstractText>To determine the effectiveness, efficiency, and feasibility of a new strategy for the detection of HNPCC, using simple... |
2,338,588 | In silico fine-mapping: narrowing disease-associated loci by intergenomics. | Genetic linkage and association studies define quantitative trait loci (QTLs) and susceptibility loci (SLs) that influence the phenotype of polygenic traits. A web-accessible application was created to identify intergenomic consensuses to fine map QTLs and SLs in silico and select particularly promising candidate genes... |
2,338,589 | Detection of aneuploidies by paralogous sequence quantification. | Chromosomal aneuploidies are a common cause of congenital disorders associated with cognitive impairment and multiple dysmorphic features. Pre-natal diagnosis of aneuploidies is most commonly performed by the karyotyping of fetal cells obtained by amniocentesis or chorionic villus sampling, but this method is labour in... |
2,338,590 | Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease. | To undertake a full genome-wide screen for Parkinson's disease susceptibility loci.</AbstractText>A genome-wide linkage study was undertaken in 227 affected sibling pairs from 199 pedigrees with Parkinson's disease. The pedigree sample consisted of 188 pedigrees from five European countries, and 11 from the USA. Indivi... |
2,338,591 | Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). | Subtelomeric rearrangements contribute to idiopathic mental retardation and human malformations, sometimes as distinct mental retardation syndromes. However, for most subtelomeric defects a characteristic clinical phenotype remains to be elucidated.</AbstractText>To screen for submicroscopic subtelomeric aberrations us... |
2,338,592 | Construction of a eukaryotic expression system of HSP65 gene from Mycobacterium tuberculosis, and anti-HSP65 IgG produced in mice. | The purpose of this study was to express the HSP65 gene of Mycobacterium tuberculosis in eukaryotic cells and study its primary immune effect in animals. The HSP65 gene was amplified from the H37Rv strain of M. tuberculosis by PCR and then inserted into the expression plasmid pcDNA3.1(-). The recombinant plasmid pcHSP6... |
2,338,593 | Molecular basis of intrinsic macrolide resistance in clinical isolates of Mycobacterium fortuitum. | Some clinical isolates of Mycobacterium fortuitum are naturally resistant to macrolides, e.g. clarithromycin. Thus, the aim of this study was to identify the gene(s) conferring this resistance.</AbstractText>M. fortuitum ATCC 6841T DNA libraries were screened for plasmids that complemented the macrolide-susceptible phe... |
2,338,594 | Endoscopic closure of fetal membrane defects: comparing iatrogenic versus spontaneous rupture cases. | Currently, physicians manage preterm premature rupture of membranes (PPROM) by expectant management or termination of the gestation. A therapy aimed at sealing membranes would be optimal to maintain the pregnancy and achieve a normal neonate. Our objective was to compare an endoscopic technique for intrauterine closure... |
2,338,595 | Screening of histone deacetylases (HDAC) expression in human prostate cancer reveals distinct class I HDAC profiles between epithelial and stromal cells. | Histone deacetylases (HDACs) represent a large family of enzymes identified as key regulators of nucleosomal histone acetylation, a major epigenetic event that controls eukaryotic gene transcription. Inappropriate deacetylation mediated by HDACs has been associated with profound alterations in cellular biology. We have... |
2,338,596 | Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene. | Hemophilia B is an X-linked recessive, bleeding disorder caused by mutations in the factor IX gene. A wide range of mutations, showing large molecular heterogeneity, has been described in hemophilia B patients. Our study was aimed at characterizing mutations in the factor IX gene in a cohort of North Indian hemophilia ... |
2,338,597 | Absence of de novo Y-chromosome microdeletions in male children conceived through intracytoplasmic sperm injection. | Molecular screening for Y-chromosome microdeletions in 96 Spanish male children conceived through intracytoplasmic sperm injection (ICSI) was conducted. No microdeletions were detected; these results support the notion that de novo Y-chromosome alterations are rare and unrelated to the ICSI technique itself. |
2,338,598 | Establishment of subrenal capsule xenografts of primary human ovarian tumors in SCID mice: potential models. | To evaluate subrenal capsule xenografting of primary ovarian tumor tissues in mice for development of new ovarian cancer models.</AbstractText>Pieces (1 x 3 x 3 mm) of ovarian tumor specimens from patients were meticulously grafted under renal capsules of female NOD/SCID mice within 2 h of surgical removal. Tumor types... |
2,338,599 | Genetic osteoarticular diseases under the molecular biology spotlight. | Major strides have been made recently in unraveling the genetic underpinnings of various bone and joint diseases. In many cases, progress in molecular biology has provided detailed knowledge in this area. An overview is given herein. |
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