Unnamed: 0 int64 0 2.34M | title stringlengths 5 21.5M | abst stringlengths 1 21.5M |
|---|---|---|
2,338,100 | Molecular cloning and characterization of the macaque sperm associated antigen 9 (SPAG9): an orthologue of human SPAG9 gene. | The present study was conducted to isolate macaque proteomic homologue of human SPAG9 (EMBL nomenclature human sperm associated antigen 9: hSPAG9; Shankar et al., 1998: Biochem Biophys Res Commun 243:561-565) in order to find out whether the macaque can provide a suitable model for examining its immunocontraception eff... |
2,338,101 | Role of pathology in the identification of hereditary diffuse gastric cancer: report of a Portuguese family. | Mutations in E-cadherin gene are the underlying genetic defect in approximately one-third of the hereditary diffuse gastric cancer (HDGC) families described to date. Positive family history of diffuse gastric cancer and early age of onset of gastric tumours are the clinical criteria currently used to qualify for HDGC. ... |
2,338,102 | Polymorphism screening in the cardiac K+ channel gene KCNA5. | Common deoxyribonucleic acid polymorphisms that modulate normal cardiac electrophysiologic characteristics have previously been identified in long QT syndrome disease genes. In this study we screened an additional gene encoding the cardiac potassium channel KCNA5 (underlying I(Kur)) in 3 ethnic groups and evaluated the... |
2,338,103 | Complete mutation screening and haplotype characterization of the BRCA1 gene in 61 familial breast cancer patients from Norway. | Mutations in the Breast-Cancer-1 (BRCA1) gene are the major cause of familial breast/ovarian cancer. Among familial breast cancer only, 15-20% have been suggested to have a deleterious mutation in BRCA1. A highly sensitive method (REF-SSCP) was applied to screen the open reading frame and the 5'UTRs of BRCA1 for mutati... |
2,338,104 | Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. | Two recent publications reported association of common polymorphisms in the P2 promoter of hepatocyte nuclear factor 4alpha (HNF4alpha) (the MODY1 gene) with risk for type 2 diabetes. We attempted to reproduce this putative association by genotyping 11 single nucleotide polymorphism (SNPs) spanning the HNF4alpha coding... |
2,338,105 | Jumping genes and AFLP maps: transforming lepidopteran color pattern genetics. | The color patterns on the wings of lepidopterans are among the most striking patterns in nature and have inspired diverse biological hypotheses such as the ecological role of aposomatic coloration, the evolution of mimicry, the role of human activities in industrial melanism, and the developmental basis of phenotypic p... |
2,338,106 | The I1307K APC mutation in a high-risk clinic setting: a follow-up study. | While the I1307K APC mutation clearly confers an increased lifetime risk for colorectal cancer, there is a paucity of data on the natural history of colonic neoplasia in symptomatic and asymptomatic mutation carriers. In this study, 51 Jewish I1307K APC mutation carriers were identified in a high-risk familial cancer c... |
2,338,107 | A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients. | Prenatal diagnosis (PND) is offered routinely as part of pregnancy care to a large number of women at increased risk of fetal anomalies. Despite an extraordinary growth in the use of PND and significant resource allocation, few studies have examined outcomes of PND counseling, and virtually no research has evaluated th... |
2,338,108 | Genetics of lupus nephritis. | Susceptibility to lupus nephritis is the end-result of complex interactions between polymorphic genetic factors involved in the regulation of immune responses. In humans, genome-wide screens and candidate-gene analyses led to the identification of several loci containing potential targets (FcgammaRIIa, PTPN22, PD-1, IL... |
2,338,109 | Place of preimplantation diagnosis in genetic practice. | Preimplantation genetic diagnosis (PGD) is currently one of the practical options available for couples at-risk to avoid the birth of children with genetic and chromosomal disorders. Despite its novelty, PGD has already become an alternative to traditional prenatal diagnosis, allowing establishing only unaffected pregn... |
2,338,110 | Screening for single gene genetic disease. | The screening and directed testing for genetic disease caused by single gene mutations is an expanding part of the overall scheme of prenatal care. In addition to reproductive choice, carrier screening and fetal diagnostic testing afford the important opportunity for preparation of the family and the delivery site for ... |
2,338,111 | Physical linkage of Tn3 and part of Tn1721 in a tetracycline and ampicillin resistance plasmid from Salmonella Typhimurium. | The complete nucleotide sequence of the 12 656 bp plasmid pFPTB1 from Salmonella enterica subsp. enterica serovar Typhimurium, which mediates resistance to tetracyclines and ampicillin, was determined. The plasmid was analysed for potential reading frames and structural features indicative of transposons and transposon... |
2,338,112 | Characterization of a Tn5382-like transposon containing the vanB2 gene cluster in a Clostridium strain isolated from human faeces. | During a hospital surveillance programme to detect VRE carriers, an anaerobic vancomycin-resistant bacterial strain CCRI-9842 containing a vanB gene was isolated from a human faecal specimen. In this study, we have characterized this strain and its vanB-containing element.</AbstractText>Strain CCRI-9842 was characteriz... |
2,338,113 | [Genetic analysis of 32 microsatellite loci in 13 families of Wuzhishan pig by multiplex PCR and gene scanning technique]. | Wuzhishan pig is one of the rare and endangered breeds in china. They have the following characteristics such as :light body weight and small size, early sexually maturity, high meat quality and genetic identification with 6 approximately 8 pares litter size,body weight of born 0.3 approximately 0.4 kg, 15 approximatel... |
2,338,114 | [Genetic polymorphism of D1S1612 and D18S535 in Chinese Han population of Beijing]. | To investigate the genetic polymorphism of D1S1612 and D18S535 in Han population of Beijing. Amp-FLP method was used. 9 alleles, 25 genotypes were observed for D1S1612 locus; and 9 alleles and 27 genotypes for D18S535 locus. All allele frequencies, heterozygosity (H), discrimination power (Dp), exclusion of paternity p... |
2,338,115 | Identification of HLA-B*5136 in the Chinese population. | We report here a new HLA-B*5136 allele identified by sequence-based typing in the Chinese population. The new B*5136 allele showed four nucleotides difference with B*5108 at exon 3, which are two point mutations at nucleotide positions 527 T-->A and 583 C-->T, and two substitutions at adjacent nucleotide position... |
2,338,116 | Identification of a new HLA-B*56 variant, B*5614. | In this report, the novel allele B*5614 is presented. The allele was identified in a Chinese individual by sequence-based typing. HLA-B*5614 differs from B*5608 by a single nucleotide at position 277G-->C in exon 2. This results in an amino acid change from Gly to Arg at codon 93. |
2,338,117 | A population-based cohort study of KIR genes and genotypes in relation to cervical intraepithelial neoplasia. | Natural killer (NK) cells are involved both in control of virus infections and in elimination of tumor cells. Killer immunoglobulin-like receptors (KIRs) either activate or inhibit NK cell-mediated cytolysis, protecting healthy cells from destruction while enabling killing of abnormal cells. To investigate whether KIR ... |
2,338,118 | No association of the codon 55 methionine to valine polymorphism in the SUMO4 gene with Graves' disease. | A functional polymorphism at codon 55 of the small ubiquitin-like modifier-4 (SUMO4) gene (methionine to valine; M55V) has recently been associated with type 1 diabetes mellitus (T1D). We aimed to establish whether this locus also contributes towards the genetic susceptibility to Graves' disease (GD) and autoimmune Add... |
2,338,119 | [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis]. | The neuronal ceroid lipofuscinoses (NCL) are worldwide the most common lysosomal storage disorders of childhood. Clinical features often include progressive visual impairment, seizures, psychomotor deterioration, dementia, and premature death. Most NCL cases are caused by mutations in the CLN1, CLN2 and CLN3 genes, whi... |
2,338,120 | Inheritance and QTL analysis of durable resistance to stripe and leaf rusts in an Australian cultivar, Triticum aestivum 'Cook'. | An F4-derived F6 recombinant inbred line population (n = 148) of a cross between the durable stripe (yellow) rust (caused by Puccinia striiformis) and leaf (brown) rust (caused by Puccinia triticina) resistant cultivar, Triticum aestivum 'Cook', and susceptible genotype Avocet-YrA was phenotyped at several locations in... |
2,338,121 | Polymorphisms of the HLA-B and HLA-DRB1 genes in Thai malaria patients. | The high degree of polymorphism of human leukocyte antigen (HLA) genes has been suggested to result from natural selection against susceptibility to a variety of infectious pathogens, including malaria. HLA molecules are considered to play a crucial role in the defense of the host against malarial infection, and differ... |
2,338,122 | 3,4-dihydroxyphenylalanine reverses the motor deficits in Pitx3-deficient aphakia mice: behavioral characterization of a novel genetic model of Parkinson's disease. | Parkinson's disease (PD) is a neurodegenerative disease characterized by a loss of dopaminergic neurons in the substantia nigra. There is a need for genetic animal models of PD for screening and in vivo testing of novel restorative therapeutic agents. Although current genetic models of PD produce behavioral impairment ... |
2,338,123 | The epsilon-sarcoglycan gene in myoclonic syndromes. | Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully defined. We screened 58 individuals with a range of myoclonic/dystonic syndromes for SGCE mutations. We found mutations (three of them novel) in six (21%) of the 29 p... |
2,338,124 | Health care policy issues as a result of the genetic revolution: implications for public health. | The genetic revolution has spawned 4 distinct issues of universal importance to health care policy and society: genetic privacy, regulation and standardization of genetic tests, gene patenting, and education. Adequate policy advancements for these 4 areas are lacking. Stringent controls must be placed on individual hea... |
2,338,125 | A new polymorphism in the type II deiodinase gene is associated with circulating thyroid hormone parameters. | Type II deiodinase (D2) is important in the regulation of local thyroid hormone bioactivity in certain tissues. D2 in skeletal muscle may also play a role in serum triiodothyronine (T(3)) production. In this study, we identified a polymorphism in the 5'-UTR of the D2 gene (D2-ORFa-Gly3Asp). We investigated the associat... |
2,338,126 | Formation and intracellular trafficking of lipoplexes and polyplexes. | Cationic lipid/DNA lipoplexes and cationic polymer/DNA polyplexes represent an attractive alternative to viral vectors for cell transfection in vitro and in vivo but still suffer from a relatively low efficiency. Optimization of their transfection efficiency may be attempted by using a trial and error approach consisti... |
2,338,127 | Managing familial risk in genetic testing. | Increasing numbers of people are seeking genetic testing and uncovering information that directly concerns their biological relatives as well as themselves. This familial quality of genetic information raises ethical quandaries for physicians, particularly related to their duty of confidentiality. In this article, the ... |
2,338,128 | Disclosure of genetic information obtained through research. | The rapid expansion of information and knowledge of genetics has implications for the question of whether, and under what circumstances, information discovered in the course of genetic research should be conveyed to research participants and/or their relatives. The aim of this paper is to propose an ethically defensibl... |
2,338,129 | Assessment of a decision aid to assist genetic testing research participants in the informed consent process. | Limited attention has been given to applying decision-making theories from psychology to the content and process of informed consent in genetic testing research. Data are presented from a study that developed and assessed a psychological theory-based decision aid as part of the informed consent process. This innovative... |
2,338,130 | Y chromosome microdeletions in infertile males from Andhra Pradesh, South India. | Studies on the frequency of Y chromosome microdeletions were carried out in 70 idiopathic infertile males with normal karyotypes. Genomic DNA was isolated from blood and PCR analysis was carried out with AZFa, AZFb, and AZFc STS markers SY 84, SY 87, SY 127, SY 254, and SY 158 to detect the deletions. In 9/70 (12.8%) s... |
2,338,131 | Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution. | Defensins constitute a primary mechanism in the innate immune system of humans and all mammals. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. In humans, four beta-defensins have been described so far, correspondi... |
2,338,132 | Evidence for association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus. | Nitric oxide (NO) is thought to be an important factor in the deterioration of renal function. A variable-number tandem 27-bp repeat in intron 4 of the endothelial cell nitric oxide synthase (NOS3) gene has been found to be associated with the plasma levels of NO metabolites. Two alleles are of varied frequencies in di... |
2,338,133 | An RT-PCR-based strategy to estimate full-length CYP2D6 mRNA copy number. | The goal of this study is to develop an analytical tool to assess cytochrome P450 2D6 (CYP2D6) levels in the form of full-length transcripts. CYP2D6 RNA in test samples was evaluated by co-amplification with an internal RNA control in a reverse-transcribed polymerase chain reaction (RT-PCR). The internal CYP2D6 RNA con... |
2,338,134 | Five-locus HLA typing of hematopoietic stem cell donor volunteers using PCR sequence specific primers. | We have developed a strategy for five-locus human leukocyte antigen (HLA) typing of hematopoeitic stem cell (HSC) donors using the polymerase chain reaction with sequence-specific primers (PCR-SSP). The PCR-SSP method is robust, reproducible, and accurate. New PCR-SSP mixtures can be added as required and all reactions... |
2,338,135 | Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum. | Pseudoxanthoma elasticum (PXE) is a hereditary disorder of connective tissue with skin, cardiovascular, and visual involvement. In familial cases, PXE usually segregates in an autosomal recessive fashion. The aim of this manuscript is to describe an efficient strategy for DNA diagnosis of PXE. The two most frequent mut... |
2,338,136 | X-linked Menkes disease: first documented report of germ-line mosaicism. | This work investigated a three-generation Menkes disease family, where germ-line mosaicism was suspected in the maternal grandmother of the index patient. She had given birth to 2 boys who died of suspected Menkes disease on the basis of clinical and photographic evidence. Biochemical analysis of the index patient conf... |
2,338,137 | Genetic polymorphism of MJD1 alleles and molecular analysis of SCA3 patients from Rio de Janeiro, Brazil. | Spinocerebellar ataxia type 3 is the most common form of autosomal dominant cerebellar ataxia. It is a severe progressive neurological disorder caused by an expansion of an exonic CAG repeat of the MJD1 gene. The repeated sequence is polymorphic among both normal individuals and patients. In general, expanded alleles a... |
2,338,138 | Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis. | We have screened 175 patients for molecular defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene using nondenaturing polyacrylamide gel electrophoresis (PAGE), denaturing gradient gel electrophoresis (DGGE), and sequencing. Six different mutations (F508del, G542X, 621+1G --> T, 2789+5G --&g... |
2,338,139 | Fanconi anemia: contribution of molecular analyses to the identification of bone marrow graft donors and the study of chimerism in grafted patients. | We report on the effectiveness of molecular studies regarding Fanconi anemia (FA) for a better selection of bone marrow graft donors and for post-transplant follow up. Ten unrelated FA patients and their families were analyzed by microsatellite markers. In 9 cases, the cytogenetic investigation of potential human leuko... |
2,338,140 | Frequency of HFE H63D, S65C, and C282Y mutations in patients with iron overload and controls from Toledo, Spain. | Hereditary hemochromatosis (HH) is an autosomal recessive disease caused by a defective iron absorption. C282Y is the most frequent HFE gene mutation causing HH in Northern European populations and their descendants. However, two other mutations, H63D and S65C, have been described as pathogenic changes. In this study, ... |
2,338,141 | Reliable and high-throughput mutation screening for beta-thalassemia by a single-base extension/fluorescence polarization assay. | beta-thalassemia is one of the most common inherited diseases with incidence varying between 3% and 10% in the high-prevalence regions of South China. The molecular defects are mostly due to single-nucleotide substitutions, minor insertions, and deletions in the beta-globin gene. Large-scale population genetic screenin... |
2,338,142 | Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques. | Large deletions in the APC (adenomatous polyposis coli) gene, causing familial adenomatous polyposis (FAP), cannot easily be detected by conventional mutation-detection techniques. Therefore, we have developed two independent quantitative methods for the detection of large deletions, encompassing one or more exons, of ... |
2,338,143 | Psychological impact of genetic testing for breast cancer susceptibility in women of Ashkenazi Jewish background: a prospective study. | The recognition that the prevalence of three founder mutations in the BRCA1 and BRCA2 genes is over 2% in Ashkenazi Jews has resulted in numerous epidemiological research studies of this ethno-religious group. To determine the effects of incorporating research into clinical practice, a psychological impact study of wom... |
2,338,144 | Variants of uncertain clinical significance as a result of BRCA1/2 testing: impact of an ambiguous breast cancer risk message. | The identification of an increasing number of variants of uncertain clinical significance (VUCS) in genetic testing for hereditary breast cancer poses serious problems for genetic counseling, because no data are available about the psychosocial impact of discussing such an unclear risk message. The current study is the... |
2,338,145 | Implications of the age range in a population-based BRCA1 testing program with eligibility based on family history of breast and ovarian cancer. | The current options available to BRCA1 mutation carriers can be classified as either cancer risk reduction or increased disease surveillance. Risk reduction might be preferable to young women. Increased surveillance might be more attractive to women when their cancer risk is highest. The aim of this report is to estima... |
2,338,146 | Accuracy of cancer family histories: comparison of two breast cancer syndromes. | Cancer risk programs rely on accurately reported family history information. This study compares the accuracy with which cancer sites and ages at diagnosis are reported by Li-Fraumeni syndrome (LFS) and hereditary breast-ovarian cancer syndrome (HBOCS) families undergoing genetic testing. We analyzed the accuracy of 19... |
2,338,147 | Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. | Fanconi anemia (FA) and Bloom syndrome (BS) are rare autosomal recessive genetic disorders manifesting in childhood, with a predisposition to cancer development in adolescence and adulthood. Both syndromes are relatively prevalent among the Ashkenazi Jewish population, and, in both syndromes, mutations specific to this... |
2,338,148 | Genetics of hereditary colorectal cancer. | Genetic factors can dramatically influence the risk of colorectal cancer, and the molecular bases of many hereditary colorectal cancer syndromes, including familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and hereditary nonpolyposis colorectal cancer (HNPCC) have been elucidated. Additional syndromes contin... |
2,338,149 | [Is the prostate cancer screening behaviour of men with familial predisposition predictable?]. | Little is known about the motives of German men to attend or refuse preventive checkups for prostate cancer. The aims of this study were to investigate if in men with familial predisposition screening behaviours are influenced by epidemiological or clinical parameters of prostate cancer of their affected relatives. 476... |
2,338,150 | A genome wide linkage disequilibrium screen in Parkinson's disease. | Whole genome screening is increasingly used to identify genetic risk factors for complex diseases. In this study, a genome wide linkage disequilibrium (LD) screen was performed in a cohort of Parkinson's disease (PD) patients from the UK (n = 195) using pooled DNA to facilitate efficient genotyping of 5546 microsatelli... |
2,338,151 | Candidate gene screening for posterior polymorphous dystrophy. | To perform candidate gene screening for posterior polymorphous corneal dystrophy (PPCD). The initial 3 genes chosen, ID1, BCL2L1, and VSX1, lie within the region on chromosome 20 to which the PPCD gene has been linked, and mutations in VSX1 have previously been identified in patients with PPCD.</AbstractText>DNA extrac... |
2,338,152 | Genetics and genetic testing: are GPs likely to attend training courses? | GPs must make difficult screening and diagnostic decisions regarding genetic testing for different cancers. Educational programs may improve knowledge and enable more appropriate referral.</AbstractText>A postal survey of all general practitioners (GPs) in Northern Ireland (N = 534; response rate = 49.4%) asked GPs if ... |
2,338,153 | Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins. | Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, we describe prenatal testing in a woman who previously had a child affected with Herlitz junctional epid... |
2,338,154 | Targeted therapies in breast cancer. | Targeted therapeutic agents in breast cancer are representing a larger proportion of new drugs entering clinical testing. Carcinogenesis is a multistep process characterized by genetic alterations that influence key cellular pathways involved in growth and development. Therefore, there are numerous opportunities for ph... |
2,338,155 | Risk assessment: controversies and management of moderate- to high-risk individuals. | With the current understanding of sporadic and familial breast cancer, it is now possible to identify individuals who have a moderate or high risk of breast cancer. For these individuals, it is useful to perform formal cancer risk assessment and develop an individualized risk reduction plan, including a tailored plan f... |
2,338,156 | Emphysema in alpha1-antitrypsin deficiency: does replacement therapy affect outcome? | Severe alpha(1)-antitrypsin (AAT) deficiency is an inherited disorder that leads to the development of emphysema in smokers at a relatively young age; most are disabled in their forties. Emphysema is caused by the protease-antiprotease imbalance when smoking-induced release of neutrophil elastase in the lung is inadequ... |
2,338,157 | Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases. | Neonatal-onset multisystem inflammatory disorder (NOMID) is a rare congenital disorder characterized by a neonatal-onset urticarial rash, arthropathy, recurrent fevers, and central nervous system disease. We report 3 cases in which patients presented with neonatal-onset urticarial eruption and other organ involvement o... |
2,338,158 | The molecular basis of individual differences in phenylthiocarbamide and propylthiouracil bitterness perception. | Individual differences in perception are ubiquitous within the chemical senses: taste, smell, and chemical somesthesis . A hypothesis of this fact states that polymorphisms in human sensory receptor genes could alter perception by coding for functionally distinct receptor types . We have previously reported evidence th... |
2,338,159 | Rapid screening of invertebrate predators for multiple prey DNA targets. | DNA-based techniques are providing valuable new approaches to tracking predator-prey interactions. The gut contents of invertebrate predators can be analysed using species-specific primers to amplify prey DNA to confirm trophic links. The problem is that each predator needs to be analysed with primers for the tens of p... |
2,338,160 | Large recursive partitioning analysis of complex disease pharmacogenetic studies. II. Statistical considerations. | Identifying genetic variations predictive of important phenotypes, such as disease susceptibility, drug efficacy, and adverse events, remains a challenging task. There are individual polymorphisms that can be tested one at a time, but there is the more difficult problem of the identification of combinations of polymorp... |
2,338,161 | Recent developments in the diagnosis and monitoring of HBV infection and role of the genetic variability of the S gene. | Recent developments in the laboratory diagnosis of hepatitis B virus infection include the optimization of key serologic markers, including hepatitis B virus surface antigen and antihepatitis B virus core antibody, as well as the development of automated nucleic acid amplification assays. There is still a lack of stand... |
2,338,162 | Diagnostic issues for adolescents and adults with ADHD. | Attention deficit hyperactivity disorder (ADHD) is a common childhood neuropsychiatric syndrome once thought to disappear with maturation. Current data indicate that ADHD remains "hidden" in many of the grown-ups who had it as children. Adult prevalence rates range from 1% to 6% of the population. Research suggests the... |
2,338,163 | Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? | Chromosome analysis is an important component to the diagnosis of congenital anomalies, developmental delay, and mental retardation. Routine chromosome analysis identifies aneuploidy and structural rearrangements greater than 5 Mb but cannot identify abnormalities of the telomeric regions or microdeletions reliably. Mo... |
2,338,164 | New ABCC6 gene mutations in German pseudoxanthoma elasticum patients. | Pseudoxanthoma elasticum (PXE; OMIM 177850 and 264800) is a rare heritable disorder of the connective tissue affecting the extracellular matrix of the skin, eyes, gastrointestinal system, and cardiovascular system. It has recently been found that mutations in the ABCC6 gene encoding the multidrug resistance-associated ... |
2,338,165 | Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes. | Myopia is a common complex eye disorder, with implications for blindness due to increased risk of retinal detachment, chorioretinal degeneration, premature cataracts, and glaucoma. A genomic interval of 2.2 centiMorgans (cM) was defined on chromosome band 18p11.31 using 7 families diagnosed with autosomal dominant high... |
2,338,166 | Preimplantation genetic diagnosis: the earliest form of prenatal diagnosis. | Preimplantation genetic diagnosis (PGD) can provide genetic information on embryos obtained through in vitro fertilization (IVF), allowing implantation of embryos identified as unaffected with a given genetic or chromosomal disorder. With the availability of increasingly sophisticated genetic testing, its use has advan... |
2,338,167 | The routine and the traumatic in prenatal genetic diagnosis: does clinical information inform patient decision-making? | With the increasing technical sophistication of medicine, clinicians' task of assuring patient informed consent is increasingly elusive. Taking the example of prenatal genetic testing, we examine efforts to communicate the complexities of genetic knowledge and risk calculation to patients. In this qualitative, descript... |
2,338,168 | A nonsynonymous polymorphism in the human fatty acid amide hydrolase gene did not associate with either methamphetamine dependence or schizophrenia. | Genetic contributions to the etiology of substance abuse and dependence are topics of major interest. Acute and chronic cannabis use can produce drug-induced psychosis resembling schizophrenia and worsen positive symptoms of schizophrenia. The endocannabinoid system is one of the most important neural signaling pathway... |
2,338,169 | Report of the First International Workshop on molecular blood group genotyping. | The use of molecular genetic technology for blood group typing is becoming routine procedure in many reference laboratories worldwide. A First International Workshop was organized on behalf of the International Society of Blood Transfusion (ISBT) and the International Council for Standardization in Haematology (ICSH). ... |
2,338,170 | Molecular correlates of emotional learning using genetically selected rat lines. | The genetic contributions to active avoidance learning in rodents have been well established, yet the molecular basis for genetically selected line differences remains poorly understood. To identify candidate genes influencing this active avoidance paradigm, we utilized the bidirectionally selected Syracuse high- and l... |
2,338,171 | Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper. | Spinal muscular atrophy (SMA) is a common, often fetal, autosomal recessively inherited disease leading to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal cord. The SMA-determining gene, called the survival of motor neuron gene (SMN), is present on 5q13 in two n... |
2,338,172 | Haplotype effects on human survival: logistic regression models applied to unphased genotype data. | Haplotype based linkage disequilibrium (LD) mapping exhibits higher power than the single locus approach because it makes use of the LD information contained in the flanking markers. New statistical methods have been proposed to help to infer haplotype effects on human diseases using multi-locus genotype data collected... |
2,338,173 | Toxicity of hexamethylenediamine. | Hexamethylendiamine (HMDA; CAS No. 124-09-4; 6055-52-3 for the dihydrochloride salt) is moderately toxic following acute doses/exposures with oral lethal doses in rats ranging from 750 to 1500 mg/kg. HMDA is extremely irritating to the skin and eyes and is not a sensitizer in guinea pigs. Repeated exposure inhalation s... |
2,338,174 | [Diagnosis and therapy of inheritable liver diseases: hemochromatisis, Wilson's disease and alpha-1-antitrypsin deficiency]. | The recent years have seen significant progress in the area of genetically determined liver diseases. For hereditary hemochromatosis, Wilson's disease and alpha-1 antitrypsin deficiency the underlying genetic defects have been described and well characterized. Although a direct relationship between genetic defect and d... |
2,338,175 | Recent findings from the National Institute of Nursing Research related to neonatal care. | This annotated bibliography from the National Institute of Nursing Research (NINR) presents recent findings on the management of high-risk pregnancy and on neonatal care from delivery trough long-term follow-up. By sharing this bibliography, we hope to increase the awareness of these valuable research findings within t... |
2,338,176 | Pheochromocytoma and functional paraganglioma syndrome: no longer the 10% tumor. | Pheochromocytomas and abdominal paragangliomas are catecholamine-producing tumors of the sympathetic nervous system, while head and neck paragangliomas are non-secreting tumors of parasympathetic origin. Recent developments in clinical and molecular research on these tumor forms have significantly clarified their genet... |
2,338,177 | Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. | Autoimmune disorders constitute a diverse group of phenotypes with overlapping features and a tendency toward familial aggregation. It is likely that common underlying genes are involved in these disorders. Until very recently, no specific alleles--aside from a few common human leukocyte antigen class II genes--had bee... |
2,338,178 | [Retinal angiomatosis]. | Retinal capillary hemangioblastomas occur sporadically or as one of the manifestations of VHL (von Hippel-Lindau syndrome). In the assessment of retinal hemangioblastomas it is necessary to know about VHL, an autosomal dominant disease, a multisystem familial tumour syndrome.</AbstractText>An overview of the diagnosis ... |
2,338,179 | Atypical molecular background of glioblastoma and meningioma developed in a patient with Li-Fraumeni syndrome. | We observed three neoplasms with completely different histologies: malignant fibrous histiocytoma (MFH), atypical meningioma (AM), and glioblastoma (GB), developing in a patient with Li-Fraumeni syndrome. By using a combined molecular approach we performed molecular characterization of all three tumours. Data obtained ... |
2,338,180 | Association studies of the adenosine A2a receptor (1976T > C) genetic polymorphism in Parkinson's disease and schizophrenia. | Given the implications with respect to the pathogenesis of dopaminergic dysfunction in schizophrenia and Parkinson's disease (PD), as well as the reciprocal antagonistic interactions between adenosine A2a receptor (A2aAR) and the dopamine D2 receptors, A2aAR may be a candidate gene conferring susceptibility to PD or sc... |
2,338,181 | [Screening for the G1528C mutation in long chain fatty acid oxidation enzyme in Han nationality in Beijing population]. | To explore the carrier rate of G1528C mutation in alpha-subunit gene of MTP in Chinese newborns.</AbstractText>1 200 cases of cord blood samples were taken in pregnant women with Han nationality in Chinese. PCR-RFLP analysis was conducted for detection of G1528C mutation.</AbstractText>No. G1528C mutations in LCHAD gen... |
2,338,182 | Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome. | Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed by excessive eating and gradual development of morbid obesity in later infancy or early childhood. Patients with PWS are often too young to manifest sufficient features or have atypical findings, making ... |
2,338,183 | Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification. | Spinal muscular atrophy(SMA), an autosomal recessive neuromuscular degeneration of the anterior horn cells of the spinal cord and brain stem, results in one of the most common diseases with muscle fatigue and atrophy. Most SMA cases including all the types are due to the homozygous deletion of at least exon 7 within th... |
2,338,184 | Development of a molecular screening test for hereditary hearing loss and genetic susceptibility to aminoglycoside toxicity for Chinese population. | To develop a molecular screening test for genetic defects on hearing loss related genes has significant impacts on early identification of hereditary hearing loss and genetic susceptibility to aminoglycoside ototoxicity. Early identification of pre-lingual hearing loss is very important for patient' s language developm... |
2,338,185 | [Screening for chromosomal abnormalities using nuchal translucency measurement with materal serum biochemistry markers in first trimester]. | To Investigate the performance of prenatal screening for chromosomal abnormalities in first trimester.</AbstractText>Maternal serum were collected from 2 739 pregnant women between 11 and 14 weeks gestation. Free beta human chorionic gonadotrophin(beta-hCG), pregnancy-associated plasma protein(PAPP-A) from materal seru... |
2,338,186 | Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE). | Infantile (INCL, NCL1) and late-infantile (LINCL, NCL2) neuronal ceroid lipofuscinoses have been found to result from genetic deficiency of genes CLN(1 ) and CLN(2), respectively. The application of molecular analyses can facilitate prenatal diagnosis for families affected by NCL1 or NCL2, in which the familial mutatio... |
2,338,187 | Singling-out point mutations. | LigAmp is a new technique for identifying point mutations in DNA and could be a new tool for diagnosing and managing diseases. |
2,338,188 | Sequence variants of IDE are associated with the extent of beta-amyloid deposition in the Alzheimer's disease brain. | Insulin degrading enzyme, encoded by IDE, plays a primary role in the degradation of amyloid beta-protein (A beta), the deposition of which in senile plaques is one of the defining hallmarks of Alzheimer's disease (AD). We recently identified haplotypes in a broad linkage disequilibrium (LD) block encompassing IDE that... |
2,338,189 | Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients. | The distribution of the Glu298Asp polymorphism in NOS3 gene was determined in 405 Italian patients with "probable" Alzheimer's disease (AD) compared with 253 age-matched controls. Total plasma homocysteine (tHcy) levels were evaluated in 97 patients and 23 controls, and were correlated with the Glu298Asp genotype. A si... |
2,338,190 | A note on generalized Genome Scan Meta-Analysis statistics. | Wise et al. introduced a rank-based statistical technique for meta-analysis of genome scans, the Genome Scan Meta-Analysis (GSMA) method. Levinson et al. recently described two generalizations of the GSMA statistic: (i) a weighted version of the GSMA statistic, so that different studies could be ascribed different weig... |
2,338,191 | Video assisted prophylactic thyroidectomy and central compartment nodes clearance in two RET gene mutation adult carriers. | Activating point mutations of RET gene have been demonstrated to be causative of the familial form of medullary thyroid cancer (MTC), both isolated (FMTC) and associated to other endocrine neoplasia [multiple endocrine neoplasia (MEN) 2A and 2B]. In RET gene mutation carriers, who are prone to developing MTC, prophylac... |
2,338,192 | Association analysis of transcripts from the bipolar susceptibility locus on chromosome 4q35, exclusion of a pathogenic role for eight positional candidate genes. | Bipolar affective disorder is a major psychiatric illness with a population prevalence of up to 1.6%. The disorder is genetically complex. To date, no specific gene or DNA sequence variation that predisposes to the disorder has been described, however several susceptibility loci have been proposed through genetic linka... |
2,338,193 | DNA mixtures: biostatistics for mixed stains with haplotypic genetic markers. | The conventional theory for interpreting forensic DNA evidence developed for the autosomal genetic markers is not applicable in the case of haplotypic markers, specifically for Y-STR based data. The reason is, that in contrast to the case of autosomal markers, single alleles found in the mixed stain cannot be assigned ... |
2,338,194 | Cell therapy in Huntington's disease. | Huntington's disease is an autosomal dominant genetic disease, which results in progressive neuronal degeneration in the neostriatum and neocortex, and associated functional impairments in motor, cognitive, and psychiatric domains. Although the genetic mutation is identified, involving an abnormal CAG expansion within ... |
2,338,195 | Translating therapies for Huntington's disease from genetic animal models to clinical trials. | Genetic animal models of inherited neurological diseases provide an opportunity to test potential treatments and explore their promise for translation to humans experiencing these diseases. Therapeutic trials conducted in mouse models of Huntington's disease have identified a growing number of potential therapies that ... |
2,338,196 | Huntington's disease genetics. | Huntington's disease (HD) is a dominantly transmitted neurodegenerative disorder with wide variation in onset age but with an average age at onset of 40 years. Children of HD gene carriers have a 50% chance of inheriting the disease. The characteristic symptoms of HD are involuntary choreiform movements, cognitive impa... |
2,338,197 | Genetics of Parkinson disease. | Parkinson disease (PD) is the second most common neurodegenerative disorder. Recent studies have consistently demonstrated that in some families, disease is attributable to a mutation in a single gene. To date, genetic analyses have detected linkage to six chromosomal regions and have identified three causative genes: ... |
2,338,198 | Neonatal screening by DNA microarray: spots and chips. | Newborn screening (NBS) is a public-health genetic screening programme aimed at early detection and treatment of pre-symptomatic children affected by specific disorders. It currently involves protein-based assays and PCR to confirm abnormal results. We propose that DNA microarray technology might be an improvement over... |
2,338,199 | Critical issues in the identification and management of patients with hereditary non-polyposis colorectal cancer. | Inherited defects of the DNA mismatch repair system are the underlying cause of the hereditary non-polyposis colorectal cancer (HNPCC) syndrome and are responsible for 3-4% of all cases of colorectal cancer. The HNPCC syndrome also carries the risk of development of additional malignancies such as endometrial, stomach,... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.