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2,338,600 | Screening for mutations in the WNT-4 gene in patients with 46,XX true hermaphroditism. | We investigated if eight SRY-negative 46,XX true hermaphrodites presented mutations in WNT-4, in blood leukocytes and/or gonadal tissue, as the cause of their disorder. We designed the sequences of the reverse primer of exon 1 and the primers of exons 2-5. Direct sequencing of all five exons demonstrated no mutant alle... |
2,338,601 | A rapid method for promoter exchange in Aspergillus nidulans using recombinant PCR. | Recombinant PCR has been used to generate linear fragments for promoter replacement by transformation in Aspergillus nidulans. A cassette vector carrying the pyr-4 non-homologous selectable marker and conditional promoter Pr-alcA was constructed for use as a template for PCR, and is suitable for testing the function of... |
2,338,602 | Genetic association studies: web-based resources for effective screening and assessment of candidate genes and pathways. | The increased availability of polymorphism resources for humans and high-throughput genotyping technologies account for the large number of genetic associations published every month. Resources that allow one to synthesise published data quickly and effectively are needed to keep up to date with such information. In ad... |
2,338,603 | Clinical aspects of preimplantation genetic diagnosis for single gene disorders combined with HLA typing. | Preimplantation genetic diagnosis (PGD) for single gene disorders combined with human leukocyte antigen (HLA) matching has recently emerged as a therapeutic tool for stem cell transplantation in couples bearing an affected offspring. There may exist, however, several patient- or cycle-specific limitations for certain c... |
2,338,604 | Men's values-based factors on prostate cancer risk genetic testing: a telephone survey. | While a definitive genetic test for Hereditary Prostate Cancer (HPC) is not yet available, future HPC risk testing may become available. Past survey data have shown high interest in HPC testing, but without an in-depth analysis of its underlying rationale to those considering it.</AbstractText>Telephone computer-assist... |
2,338,605 | The Depression Network (DeNT) Study: methodology and sociodemographic characteristics of the first 470 affected sibling pairs from a large multi-site linkage genetic study. | The Depression Network Study (DeNt) is a multicentre study designed to identify genes and/or loci linked to and/or associated with susceptibility to unipolar depression in Caucasian families. This study presents the method and socio-demographic details of the first 470 affected sibling pairs recruited from 8 different ... |
2,338,606 | Genetic determinants of folate status in Central Bohemia. | Although several genetic factors have been implicated as determinants of blood folate concentration in various populations, their effect on folate status in the Czech population has not yet been examined. We explored whether blood folate concentrations in healthy Czech population are associated with polymorphisms in 5,... |
2,338,607 | Molecular analysis of delta-aminolevulinic acid dehydratase (ALAD) gene polymorphism in a Turkish population. | delta-Aminolevulinic acid dehydratase (ALAD) is a cytosolic enzyme in the heme biosynthetic pathway. ALAD is a polymorphic enzyme showing marked ethnic group differences. In this study, ALAD polymorphism is studied in a Turkish population. Genomic DNA extracted from 230 individuals and polymerase chain reaction (PCR) c... |
2,338,608 | A functional truncated form of c-kit tyrosine kinase is produced specifically in the testis of the mouse but not the rat, pig, or human. | The complete nucleotide sequence of mouse-truncated mRNA of c-kit, tr-kit, has been determined using the CD1 strain. In this study, the nucleotide sequences of tr-kit from AKR/N, C57BL/6, and ICR strains of mice were determined and found to be identical, although many silent variations were found compared with the sequ... |
2,338,609 | Genetic susceptibility to psychiatric disorders. | Genetics contributes susceptibility to most psychiatric conditions and the understanding of these genetic factors is increasing rapidly. Because of such breakthroughs and their implications for patient care, professional nursing organizations support the incorporation of genetics into nursing curricula and the attainme... |
2,338,610 | Novel biodegradable polymers as gene carriers. | This study investigated two new biodegradable polymers as gene controlled-released coatings for gene transfer. Poly(ethylene glycol)-co-poly(D,L-lactic acid) (PELA) and poly(ethylene glycol)-co-poly(lactic acid)-co-poly(glycolic acid) random copolymer (PELGA) were synthesized and used as microspheres matrices with enca... |
2,338,611 | Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene. | Infantile spinal muscular atrophy (SMA) is a common autosomal recessive disease with a high demand for carrier testing. The disease is caused by homozygous deletions of the survival motor neuron (SMN)1 gene on chromosome 5q13 in more than 90% of cases. Meanwhile, several reliable quantitative methods for carrier detect... |
2,338,612 | Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. | Multiple osteochondromas (MO) is an autosomal dominant condition, caused by mutations in either the EXT1 or the EXT2 gene. The DNA of a cohort of 35 patients, clinically suspected to be affected with MO, was screened for mutations by a combination of direct sequence analysis and multiplex ligation-dependent probe ampli... |
2,338,613 | Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. | A variety of neutral serine proteases are important for the effector functions of immune cells. The neutrophil-derived serine proteases cathepsin G and neutrophil elastase are implicated in the host defense against invading bacterial and fungal pathogens. Likewise, the cytotoxic lymphocyte and NK cell granule-associate... |
2,338,614 | Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. | Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4)-isomerase (3betaHSD), a rare autosomal recessive disorder that affects both sexes, has a heterogeneous clinical presentation ranging from the severe salt-wasting to the non-salt-wasting forms and results from mutations in the HSD... |
2,338,615 | OLIN: optimized normalization, visualization and quality testing of two-channel microarray data. | Microarray data are generated in complex experiments and frequently compromised by a variety of systematic errors. Subsequent data normalization aims to correct these errors. Although several normalization methods have recently been proposed, they frequently fail to account for the variability of systematic errors with... |
2,338,616 | A novel method of cocaine delivery to fruit flies using a graphic arts airbrush. | The fruit fly Drosophila melanogaster is a model system for studying pathways regulating responses to cocaine. We describe a new method for delivering cocaine to Drosophila. Freebase cocaine dissolved in ethanol is sprayed onto cold-anaesthetized flies using a graphic arts airbrush modified to reproducibly control the ... |
2,338,617 | Simulated annealing of microarray data reduces noise and enables cross-experimental comparisons. | Microarrays are a powerful tool for assessing the genome-wide induction of a transcriptional response to internal or external stimuli, but are not considered quantitatively rigorous (i.e., the signal intensity of hybridized probe is normally used to quantify relative transcript abundance). Thus, it is difficult, if not... |
2,338,618 | Apolipoprotein E and cognitive performance: a meta-analysis.<Pagination><StartPage>592</StartPage><EndPage>600</EndPage><MedlinePgn>592-600</MedlinePgn></Pagination><Abstract><AbstractText>The epsilon4 allele of the apolipoprotein E (APOE) gene is a known risk factor for Alzheimer's disease and may also affect cognitiv... | The epsilon4 allele of the apolipoprotein E (APOE) gene is a known risk factor for Alzheimer's disease and may also affect cognitive performance in normal aging. Evidence of the presence and magnitude of epsilon4-related cognitive deficits was examined with a meta-analysis of the available literature. Thirty-eight stud... |
2,338,619 | Novel parkin mutations detected in patients with early-onset Parkinson's disease. | A multiethnic series of patients with early-onset Parkinson's disease (EOP) was studied to assess the frequency and nature of parkin/PARK2 gene mutations and to investigate phenotype-genotype relationships. Forty-six EOP probands with an onset age of < 45 years, and 14 affected relatives were ascertained from Italy,... |
2,338,620 | [Allele frequencies and species specificity of six short tandem repeat loci in Chinese population]. | To develop a set of new markers for forensic application, the authors have chosen 6 short tandem repeat(STR) loci to study the allele frequencies and species specificity in Chinese Han population in Chengdu.</AbstractText>One hundred and ten EDTA-blood samples were collected from the unrelated individuals in Chengdu ci... |
2,338,621 | Negative association between catechol-O-methyltransferase (COMT) gene Val158Met polymorphism and persistent tardive dyskinesia in schizophrenia. | Chronic administration of typical antipsychotic agents, which mainly act on the dopamine receptors, implicates a role of dopamine system on the susceptibility of tardive dyskinesia (TD). In the present study, the association between a functional Val158Met polymorphism of Catechol-O-methyltransferase (COMT) gene and TD ... |
2,338,622 | A micro costing of NHS cancer genetic services. | This paper presents the first full micro costing of a commonly used cancer genetic counselling and testing protocol used in the UK. Costs were estimated for the Cardiff clinic of the Cancer Genetics Service in Wales by issuing a questionnaire to all staff, conducting an audit of clinic rooms and equipment and obtaining... |
2,338,623 | DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings. | The proband was a Japanese woman with bullous congenital ichthyosiform erythroderma harboring a keratin 10 gene mutation M150T. DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma was successfully performed in her two consequent pregnancies using chorionic villus samples at 10 to 11 weeks' ges... |
2,338,624 | Ethical issues in psychiatric genetics. | As knowledge grows regarding the genetic bases of psychiatric disorders, a variety of ethical issues will need to be confronted. Current evidence suggests that the etiology of most psychiatric disorders rests on a combination of multiple genes and environmental factors. As tests for the genes involved become more easil... |
2,338,625 | Approaches to familial aggregation: hypothesis testing and estimation when families are selected through parent probands under a variant of single ascertainment. | Epidemiologic approaches to testing and estimating familial aggregation of a disease consist of comparing rates of disease in relatives of individuals with the disease (known as case probands) with rates of disease in relatives of individuals without the disease (known as control probands). Gold et al. (J Am Stat Ass 1... |
2,338,626 | Effects of genotype x environment interaction on genetic gain in breeding programs. | Genotype x environment interaction (G x E) is increasingly important, because breeding programs tend to be more internationally oriented. The aim of this theoretical study was to investigate the effects of G x E on genetic gain in sib-testing and progeny-testing schemes. Loss of genetic gain due to G x E was predicted ... |
2,338,627 | Ethanol preexposure increases ethanol self-administration in C57BL/6J and DBA/2J mice. | Genetic variables are thought to interact with environmental factors, such as alcohol exposure history, to produce individual differences in alcohol abuse and alcoholism. The objective of this study was to test the potential interaction between genetic predisposition to consume alcohol and alcohol pretreatment on subse... |
2,338,628 | Specificity of modified Drosophila mariner transposons in the identification of Leishmania genes. | Genetic manipulation of the protozoan Leishmania has led to a better understanding of the survival and development of these pathogens within their hosts. The association of the Leishmania genome sequencing information with the ability of transposons to introduce or destroy phenotypes allows a global perspective on the ... |
2,338,629 | Transcriptional mechanisms of hippocampal aging. | Aging related cognitive decline is an increasing health problem but affects only a subset of elderly humans. This research uses outbred young (Y) and aged rats. Behavioral characterization distinguishes aged rats with impaired spatial learning (AI) and aged rats with unimpaired learning ability (AU), mimicking the vari... |
2,338,630 | Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis. | Leber congenital amaurosis (LCA) is the most severe inherited retinopathy, with the earliest age of onset. Because this currently incurable disease is present from birth and is a relatively rare disorder, the development of animal models that closely resemble the phenotype in patients is especially important. Our previ... |
2,338,631 | Congenital spherocytosis with hereditary hemochromatosis without pathogenic mutations in the HFE gene. | We report a case of an 80-year-old woman with congenital spherocytosis who presented with massive iron overload. Iatrogenic iron overload could be ruled out. Familial history was suggestive of hereditary hemochromatosis; however, molecular genetic testing for the most common HFE mutations remained negative. The patient... |
2,338,632 | Population genetic structure of Anopheles gambiae mosquitoes on Lake Victoria islands, west Kenya. | Understanding the genetic structure of island Anopheles gambiae populations is important for the current tactics in mosquito control and for the proposed strategy using genetically-modified mosquitoes (GMM). Genetically-isolated mosquito populations on islands are a potential site for testing GMM. The objective of this... |
2,338,633 | [Genetic counseling in the Mental Health Research Center of the Russian Academy of Medical Sciences].<Pagination><StartPage>49</StartPage><EndPage>53</EndPage><MedlinePgn>49-53</MedlinePgn></Pagination><Abstract><AbstractText>Current concepts on the role of genetic factors in the development of schizophrenia and on the... | Current concepts on the role of genetic factors in the development of schizophrenia and on the relative risk for this disease and spectrum disorders are reviewed. An analysis of the results of genetic counseling of 120 subjects revealed that, comparing to other mental disorders, patients with schizophrenia or relatives... |
2,338,634 | HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene. | Hereditary angioneurotic edema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous and submucosal edema and is caused by the deficiency of the activated C1 esterase inhibitor protein (C1-INH or C1INH; approved gene symbol SERPING1). Published C1-INH mutations are represented in large un... |
2,338,635 | Testing predictions of the double-strand break repair model relating to crossing over in Mammalian cells. | In yeast, four-stranded, biparental "joint molecules" containing a pair of Holliday junctions are demonstrated intermediates in the repair of meiotic double-strand breaks (DSBs). Genetic and physical evidence suggests that when joint molecules are resolved by the cutting of each of the two Holliday junctions, crossover... |
2,338,636 | High throughput screening of genetic polymorphisms by matrix-assisted laser desorption ionization time-of-flight mass spectrometry. | In the post genomic era, the screening of many different genetic polymorphisms in large populations represents a major goal that will facilitate the understanding of individual genetic variability in the development of multi factor diseases and in drug response and toxicities. The increasing interest in these pathogene... |
2,338,637 | Microdissection techniques for molecular testing in surgical pathology. | To describe the techniques for microdissection of paraffin-embedded and frozen tissue sections for the use in molecular applications.</AbstractText>Original research papers and review papers and the authors' personal experiences.</AbstractText>Manual and laser-capture microdissection are described in detail, with speci... |
2,338,638 | The -omics era and its impact. | To review the advances in clinically useful molecular biologic techniques and to identify their applications, as presented at the 12th Annual William Beaumont Hospital DNA Symposium.</AbstractText>The 7 manuscripts submitted were reviewed and their major findings were compared with literature on the same or related top... |
2,338,639 | Animal models for studying respiratory syncytial virus infection and its long term effects on lung function. | Human respiratory syncytial virus (hRSV) infection causes a spectrum of illnesses ranging from mild infection to life-threatening bronchiolitis and respiratory failure. Human studies on the pathogenesis of RSV infection are invaluable, but animal models permit advances with the use of experimental strategies that would... |
2,338,640 | Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients. | Although the presence of multiple cases of melanoma on the same side of a family is the best predictor of germline CDKN2A mutation, other features (i.e. early age at onset) may be useful to identify carriers. We analysed the records of 682 hospital-based Ligurian melanoma patients. Of these, 238 cases (34 familial, 14 ... |
2,338,641 | High expression of cyclin B1 predicts a favorable outcome in patients with follicular lymphoma. | Substantial research has been dedicated to the study of the relationship between genetic mechanisms regulating cell functions in tumors and how those tumors respond to various treatment regimens. Because these mechanisms are still not well understood, we have chosen to study the genetic makeup of 57 tumor samples from ... |
2,338,642 | Chemotherapeutic deletion of CTG repeats in lymphoblast cells from DM1 patients. | Myotonic dystrophy type 1 (DM1) is caused by the expansion of a (CTG).(CAG) repeat in the DMPK gene on chromosome 19q13.3. At least 17 neurological diseases have similar genetic mutations, the expansion of DNA repeats. In most of these disorders, the disease severity is related to the length of the repeat expansion, an... |
2,338,643 | Computational method for discovery of estrogen responsive genes. | Estrogen has a profound impact on human physiology and affects numerous genes. The classical estrogen reaction is mediated by its receptors (ERs), which bind to the estrogen response elements (EREs) in target gene's promoter region. Due to tedious and expensive experiments, a limited number of human genes are functiona... |
2,338,644 | Pharmacogenomic genotyping methodologies. | "Personalized medicine" based on an individual's genetic makeup is slowly becoming a reality as pharmacogenomics moves from the research setting to the clinical laboratory. Concordance studies between genotype and phenotype have shown that inherited mutations in several key drug-metabolizing enzymes, such as cytochrome... |
2,338,645 | Associations between relationship support and psychological reactions of participants and partners to BRCA1 and BRCA2 testing in a clinic-based sample. | Despite the potential importance of communication about genetic testing between test participants and their significant others, little is known about social support and communication between women undergoing BRCA1 and BRCA2 testing and their partners.</AbstractText>The aims of this longitudinal study were to examine co... |
2,338,646 | DNA encapsulated magnesium and manganous phosphate nanoparticles: potential non-viral vectors for gene delivery. | Nanoparticles of Mg and Mn (II) phosphates encapsulating pDNA were prepared. The sizes of these DNA loaded particles in aqueous dispersion were about 100-130 nm diameter, and they aggregated with the progression of time. Although magnesium phosphate nanoparticles were crystalline, the manganous phosphate nanoparticles ... |
2,338,647 | Detecting changes in the relative expression of KRAS2 splice variants using polymerase colonies. | Because splice variants of a gene with multiple isoforms give rise to proteins with different functions, it seems plausible that changes in the expression levels of the splice variants could be a contributing factor to disease. In fact, recent examples in the literature clearly illustrate that altered expression levels... |
2,338,648 | Microsatellite analysis in FVB/N mice. | The purpose of the study reported here was to identify, by size, a set of microsatellite markers for use in diagnostic genetic monitoring of FVB/N mouse colonies. A large panel of microsatellite markers were chosen on the basis oftheir high degree of allelic variability. These markers were then tested for their ability... |
2,338,649 | Duty to warn of genetic harm in breach of patient confidentiality. | Harm caused by the failure of health professionals to warn an at-risk genetic relative of her or his risk is genetic harm. Genetic harm should be approached using the usual principles of negligence. When these principles are applied, it is shown that (a) genetic harm is foreseeable; (b) the salient features of vulnerab... |
2,338,650 | Genogroup I and II noroviruses detected in stool samples by real-time reverse transcription-PCR using highly degenerate universal primers. | Genogroup I noroviruses from five genetic clusters and genogroup II noroviruses from eight genetic clusters were detected in stool extracts using degenerate primers and single-tube, real-time reverse transcription-PCR (RT-PCR) with SYBR Green detection. Two degenerate primer sets, designated MON 431-433 and MON 432-434... |
2,338,651 | The person, the soul, and genetic engineering. | Argument about the ethical possibility of the therapeutic use of embryonic stem cells depends critically on the evaluation of the moral status of the very early embryo. Some assert that at the blastocyst stage it is only potentially human, not yet possessing the full ethical status of personhood, while others assert th... |
2,338,652 | Attitudes of healthcare professionals and parents regarding genetic testing for violent traits in childhood. | Although no genetic tests for violent behaviour are currently available, research is ongoing to isolate genes related to a propensity for violence. We explored the attitudes of parents and healthcare professionals toward behavioural genetic testing for violence.</AbstractText>The attitudes of healthcare professionals a... |
2,338,653 | Multiple spinal cavernous malformations with atypical phenotype after prior irradiation: case report. | This is the first reported case of histologically proven multiple spinal cavernous malformations (CMs) associated with previous irradiation. There are only two cases reported in the literature of solitary spinal CM after irradiation. In addition, the lesions in our patient had an atypical magnetic resonance imaging app... |
2,338,654 | Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients. | A newborn with ambiguous genitalia needs prompt evaluation to detect life-threatening conditions (e.g., salt-losing crisis in congenital adrenal hyperplasia [CAH]) and gender assignment. Sex assignment in these children continues to be a challenging diagnostic and therapeutic problem. We studied the causes and characte... |
2,338,655 | [Polymorphisms and species specificity of D2S2944 and D1S2134 loci in Chinese Han population in Chengdu]. | To obtain the data of polymorphism distribution of the two STR loci D2S2944, D1S2134 in Chinese Han population in Chengdu and evaluate their usefulness in the field of forensic science.</AbstractText>PCR, polyacrylamide gel electrophoresis (PAGE) and silver staining were used to analyze 120 unrelated individuals of Chi... |
2,338,656 | Ensuring the appropriate use of genetic tests. | Ensuring the correct use of genetic tests is an important challenge for health-policy makers. Many new genetic tests will identify susceptibility to common diseases or adverse drug responses. Some will lead to new prevention opportunities, but others will have minimal clinical value. Statutory regulation alone cannot g... |
2,338,657 | Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population. | Based on newborn screening data, the carrier frequency of congenital adrenal hyperplasia (CAH) in the general population has been estimated to be 1:55. The higher CAH frequency (particularly of milder forms of the disease) reported for certain populations including Yugoslavs (1.6%) relates to population genetic and hor... |
2,338,658 | Genetic testing has no place as a routine diagnostic test in sporadic and familial cases of Alzheimer's disease. | The challenges inherent in diagnosing and treating patients with Alzheimer's disease are increasing. Early diagnosis and modification of risk factors have received growing attention from the media in recent years. As a result, the general public, and patients and family members, are increasingly better informed about t... |
2,338,659 | Role of human-tissue transglutaminase IgG and anti-gliadin IgG antibodies in the diagnosis of coeliac disease in patients with selective immunoglobulin A deficiency. | Selective IgA deficiency is associated with coeliac disease, and studies have shown an increased prevalence of coeliac disease in these patients ranging from 0.71 to 30.7%, depending on the test used for screening.</AbstractText>To determine the sensitivity of IgG anti-gliadin-antibodies and of IgG human-tissue-transgl... |
2,338,660 | [Prostate cancer: Diagnosis and staging]. | The discovery and the use of serum prostate specific antigen (PSA) has considerably improved the diagnosis of prostate cancer during the past 20 years. Before PSA era, early diagnosis was only based on the digital rectal examination (DRE) of which the Limitations have been evidenced; over half of the tumours diagnosed ... |
2,338,661 | Mannose-binding lectin: laying the stepping stones from clinical research to personalized medicine. | As a key component of the complement system, mannose-binding lectin (MBL) is one of the linchpins of innate immunity. It is, therefore, not surprising that MBL2 genetic variants affecting the quantity and activity of the MBL protein in serum have been associated with increased susceptibility to infection and autoimmune... |
2,338,662 | [The case of a 86-years old woman first diagnosed with Huntington's disease]. | This is the rare case of a woman first diagnosed with Huntington's disease at the age of 86. She was first seen at our hospital in 1999 for evaluation of dementia. Prior to her hospitalization, she had been treated with Melperone for restlessness. There was no essential psychopathology other than mild dementia (MMSE 21... |
2,338,663 | [Genetic tau-variants in patients with frontotemporal dementia]. | [corrected] To evaluate tau-associated genetic polymorphisms in patients with sporadic frontotemporal dementia (FTD) and healthy control subjects.</AbstractText>Tau-gene sequence of 30 patients with FTD and 30 healthy controls was analysed by polymerase-chain-reaction (PCR). Subsequent sequencing was performed to ident... |
2,338,664 | [Neurobiology of violence: results of empirical and experimental studies of reactive violence]. | An overview on neurobiological findings of violence is given: We present 1. neurochemical findings, 2. genetical aspects, 3. neuroanatomical correlates and 4. a functional network of violence. Even if specific neurobiological findings have not been found, impulsive violence is closely linked to serotonergic function an... |
2,338,665 | Genetic testing in New Zealand: the role of the general practitioner. | The aim of the study commissioned by the National Health Committee (NHC) was to explore the current practice and training needs of general practitioners (GPs) in relation to genetic testing in New Zealand, and to gauge GPs' perceptions of access to genetic services for their patients.</AbstractText>A postal survey was ... |
2,338,666 | Methylenetetrahydrofolate reductase genotype affects risk of relapse after hematopoietic cell transplantation for chronic myelogenous leukemia. | Methylenetetrahydrofolate reductase (MTHFR) directs intracellular folate toward homocysteine metabolism and away from nucleotide synthesis. Two common MTHFR polymorphisms, C677T and A1298C, are associated with reduced enzyme activity. We evaluated the association of these polymorphisms with risk of relapse and bcr-abl ... |
2,338,667 | Initial experience with surgical treatment planning in the newly diagnosed breast cancer patient at high risk for BRCA-1 or BRCA-2 mutation. | Despite an abundance of information available for dealing with patients with BRCA-1 and BRCA-2 mutations, little guidance is available to assist the surgeon in dealing with the genetically high-risk patient recently diagnosed with breast cancer. A retrospective review was undertaken of 170 patients who underwent geneti... |
2,338,668 | Mutation analysis in F9 gene of 17 families with haemophilia B from Iran. | Seventeen haemophilia B families from Iran were investigated to determine the causative mutation. All the essential regions of the F9 gene were initially screened by conformational sensitive gel electrophoresis and exons with band shift were sequenced. Seven of the 15 mutations identified in these families were novel m... |
2,338,669 | Developmental validation of a single-tube amplification of the 13 CODIS STR loci, D2S1338, D19S433, and amelogenin: the AmpFlSTR Identifiler PCR Amplification Kit. | Analysis of length polymorphism at short tandem repeat (STR) loci utilizing the polymerase chain reaction (PCR) process has proven to be an ideal assay for human identification purposes. The short length of STR loci coupled with the amplification of target sequence through PCR allows for a robust, sensitive, and specif... |
2,338,670 | Molecular, clinical and political approaches to the problem of cleft lip and palate. | The oral facial complex in man appears to be exquisitively sensitive to genetic and environmental influences which is why clefts of the palate are the most common congenital birth anomaly. The development of the palate starts at about the 6th week of inter-uterine life and requires development of the palatal shelves fr... |
2,338,671 | Effect of environment on resistance to the European corn borer (Lepidoptera: Crambidae) in maize. | The European corn borer, Ostrinia nubilalis (Hübner) (Lepidoptera: Crambidae), is a major pest of maize, Zea mays L., in many temperate parts of the world. Genotype-by-environment interaction effects can make relative performance unpredictable and may hamper selection for resistance to European corn borer. The obj... |
2,338,672 | The impact of diagnostic error on testing genetic association in case-control studies. | In case-control studies, subjects in the case group may be recruited from suspected patients who are diagnosed positively with disease. While many statistical methods have been developed for measurement error or misclassification of exposure variables in epidemiological studies, no studies have been reported on the eff... |
2,338,673 | A method for meta-analysis of molecular association studies. | Although population-based molecular association studies are becoming increasingly popular, methodology for the meta-analysis of these studies has been neglected, particularly with regard to two issues: testing Hardy-Weinberg equilibrium (HWE), and pooling results in a manner that reflects a biological model of gene eff... |
2,338,674 | [Predicting human tumor-specific promoter using transcription factor binding sites]. | To predict human tumor-specific promoters using computer technology, three data sets of tumor-specific promoter sequences, transcription factor binding site sequences and non-tumor promoter sequences were collected, and the tumor-specific promoter sequences and non-tumor promoter sequences were analyzed for the compara... |
2,338,675 | Association analysis between a functional polymorphism in the monoamine oxidase A gene promoter and severe mood disorders. | Monoamine oxidase A (MAOA) has been suggested to be involved in human behaviour and physiology due to its key role in the metabolism of several different biological amines including the neurotransmitters serotonin, norepinephrin and dopamine.Recently, a 30 bp repeat in the MAOA gene promoter (uMAOA) has been demonstrat... |
2,338,676 | Psychiatric findings in four female carriers of Fabry disease. | Anderson-Fabry disease (AFD) is an X-linked recessive disorder of glycosphingolipid metabolism. Most female carriers are clinically symptomatic; however, psychiatric diagnoses have not been reported in this population. We describe four female carriers of AFD disease who met DSM-IV criteria for major depression. All cas... |
2,338,677 | Replicon system for Lassa virus. | Lassa virus is endemic to West Africa and causes hemorrhagic fever in humans. To facilitate the functional analysis of this virus, a replicon system was developed based on Lassa virus strain AV. Genomic and antigenomic minigenomes (MG) were constructed consisting of the intergenic region of S RNA and a reporter gene (R... |
2,338,678 | Serial SimCoal: a population genetics model for data from multiple populations and points in time. | We present Serial SimCoal, a program that models population genetic data from multiple time points, as with ancient DNA data. An extension of SIMCOAL, it also allows simultaneous modeling of complex demographic histories, and migration between multiple populations. Further, we incorporate a statistical package to calcu... |
2,338,679 | Two novel CAV3 gene mutations in Japanese families. | Caveolin-3 deficiency is a rare, autosomal dominant, muscle disorder caused by caveolin-3 gene (CAV3) mutations and consists of four clinical phenotypes: limb-girdle muscular dystrophy type 1C (LGMD-1C), rippling muscle disease, distal myopathy, and familial hyperCKemia. So far, only 13 mutations have been reported. We... |
2,338,680 | Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies. | Hereditary neuropathy with liability to pressure palsies arises as a result of defects at the chromosome 17p11.2-12 locus and in 84% of cases a 1.5 Mb deletion containing the PMP22 gene is detected by analysis that utilises polymorphic (CA)n repeat markers which flank this gene. We report the clinical and electrophysio... |
2,338,681 | Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. | Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are associated with a wide range of phenotypes, comprising central core disease and distinct subgroups of multi-minicore disease. We report muscle MRI findings of 11 patients from eight families with RYR1 mutations (n=9) or confirmed linkage to the RYR1 lo... |
2,338,682 | Magnetic resonance imaging of muscle in nemaline myopathy. | We report muscle MRI findings of 10 patients from 8 families with nemaline myopathy. Patients with involvement of the nebulin (NEB) gene showed a consistent pattern of selective muscle involvement corresponding to clinical severity. In mild cases, there was complete sparing of thigh muscles and selective involvement of... |
2,338,683 | Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity. | Butyrylcholinesterase (BCHE) deficiency is characterized by prolonged apnea after the use of certain muscle relaxants with the genetic defect lying in the BCHE gene.</AbstractText>Two Chinese patients with no serum BCHE activity were studied. The BCHE genes were screened for mutations by polymerase chain reaction and d... |
2,338,684 | Gene mutations in retinitis pigmentosa and their clinical implications. | Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases affecting about 1 in 3500 people worldwide. So far, there is no prevention or cure, with permanent visual loss or even blindness the ultimate consequence usually after midlife. The genetics of RP are complex. It can be sporadic, autosomal do... |
2,338,685 | Single-track sequencing for genotyping of multiple SNPs in the N-acetyltransferase 1 (NAT1) gene. | Fast, cheap and reliable methods are needed to identify large populations, which may be at risk in relation to environmental exposure. Polymorphisms in NAT1 (N-acetyl transferase) may be suitable markers to identify individuals at risk.</AbstractText>A strategy allowing to address simultaneously 24 various genetic vari... |
2,338,686 | Mouse models of diabetic nephropathy. | Mice provide an experimental model of unparalleled flexibility for studying mammalian diseases. Inbred strains of mice exhibit substantial differences in their susceptibility to the renal complications of diabetes. Much remains to be established regarding the course of diabetic nephropathy (DN) in mice as well as defin... |
2,338,687 | A new mixture model approach to analyzing allelic-loss data using Bayes factors. | Allelic-loss studies record data on the loss of genetic material in tumor tissue relative to normal tissue at various loci along the genome. As the deletion of a tumor suppressor gene can lead to tumor development, one objective of these studies is to determine which, if any, chromosome arms harbor tumor suppressor gen... |
2,338,688 | The use of pharmacokinetic and pharmacodynamic data in the assessment of drug safety in early drug development. | The pharmaceutical industry continues to look for ways to reduce drug candidate attrition throughout the drug discovery and development process. A significant cause of attrition is due to safety issues arising either as a result of animal toxicity testing or in the clinical programme itself. A factor in the assessment ... |
2,338,689 | Frequency of haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in Basra. | Basra, southern Iraq, was mapped for haemoglobinopathies and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Of 1064 couples aged 14-60 years recruited from the Public Health Laboratory, 49 had beta-thalassaemia trait, 69 had sickle-cell trait, 2 had haemoglobin D trait, 2 had haemoglobin C trait and 1 had high pe... |
2,338,690 | Testing the out-of-Florida hypothesis on the origin of cheating in the yucca-yucca moth mutualism. | Mutualistic interactions can be exploited by cheaters that take the rewards offered by mutualists without providing services in return. The evolution of cheater species from mutualist ancestors is thought to be possible under particular ecological conditions. Here we provide a test of the first explicit model of the tr... |
2,338,691 | Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. | Friedreich ataxia patients are homozygous for expanded GAA triplet-repeats containing 66 to 1,700 triplets. We report two patients with delayed-onset, hyperreflexia and gradually progressive disease. Both were heterozygous for large expansions and also carried alleles with 44 and 66 triplet-repeats, respectively. Due t... |
2,338,692 | Molecular screening and association analyses of the interleukin 6 receptor gene variants with type 2 diabetes, diabetic nephropathy, and insulin sensitivity. | IL-6 levels and polymorphisms have been implicated in type 2 diabetes mellitus (T2DM) and insulin resistance. The IL-6 receptor (IL-6R) comprises two subunits, IL-6R and gp130, of which IL-6R confers specificity to IL-6 action and is located in a region of replicated linkage to T2DM on chromosome 1q21. We screened this... |
2,338,693 | Variation in the interleukin-6 receptor gene associates with type 2 diabetes in Danish whites. | Interleukin-6 (IL-6) is a pleiotropic cytokine involved in the pathophysiology of various human diseases such as type 2 diabetes and obesity. IL-6 signals via a heterodimeric receptor complex consisting of a soluble IL-6 alpha-subunit (IL-6 receptor [IL6R]) and a signal transducing subunit (gp130). The IL6R gene maps t... |
2,338,694 | Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes.<Pagination><StartPage>3286</StartPage><EndPage>3291</EndPage><MedlinePgn>3286-91</MedlinePgn></Pagination><Abstract><AbstractText>There is still uncertainty concerning the joint action of the two established type 1 diabetes suscep... | There is still uncertainty concerning the joint action of the two established type 1 diabetes susceptibility loci, the HLA class II DQB1 and DRB1 genes (IDDM1) and the insulin gene (INS) promoter (IDDM2). Some previous studies reported independence, whereas others suggested heterogeneity in the relative effects of the ... |
2,338,695 | Nurses' views on their role in genetics. | To determine the views of nurses about their roles in genetics.</AbstractText>A descriptive study.</AbstractText>Two university hospitals in Ankara, Turkey.</AbstractText>From a population of 1,717 nurses, 313 were selected by using the stratified random sampling method. Two hundred seventy nurses agreed to participate... |
2,338,696 | Modified vaccinia virus Ankara as antigen delivery system: how can we best use its potential? | Safety-tested modified vaccinia virus Ankara (MVA) has been established as a potent vector system for the development of candidate recombinant vaccines. The versatility of the vector system was recently demonstrated by the rapid production of experimental MVA vaccines for immunization against severe acute respiratory s... |
2,338,697 | Laser Scanning Cytometry for selection of green fluorescent protein transgenic mice using small number of blood cells. | A Laser Scanning Cytometry-based method was developed for identification of transgenic mice expressing green fluorescent protein (GFP) using minute amounts of peripheral blood. The difference between the autofluorescence of cells not expressing GFP and the fluorescence of GFP expressing cells after excitation with Ar-i... |
2,338,698 | Nanoparticle based systemic gene therapy for lung cancer: molecular mechanisms and strategies to suppress nanoparticle-mediated inflammatory response. | Cancer gene therapy for the treatment of lung cancer has shown promise in the laboratory and in Phase I/II clinical trials. However, it is currently limited to treating localized tumors due to host-immunity against the gene delivery vector and the transgene. Therefore, there is a tremendous effort to develop and test a... |
2,338,699 | Predictors of cognitive appraisals following genetic testing for BRCA1 and BRCA2 mutations. | The objectives of this study were (1) to describe perceptions of stress and confidence following genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations and (2) to identify predictors of these processes. Participants were 130 high-risk women affected with cancer who received BRCA1/2 test results. Individual difference ... |
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