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2,336,700 | How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom. | Advances in genetic technology are increasing the availability of genetic tests, not only for rare single gene disorders, but also for common diseases such as breast and colo-rectal cancer. Before there can be widespread uptake of these tests, they must be evaluated to confirm the benefits of their use. But how should ... |
2,336,701 | Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program. | To explore the cost-effectiveness of school-based multi-disease genetic carrier screening.</AbstractText>Decision analysis of the cost-effectiveness of a school-based Tay-Sachs disease and cystic fibrosis genetic carrier screening program, relative to no screening. Data relating to ethnicity profile, test-accepting beh... |
2,336,702 | MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability. | Heritable alterations in CDKN2A account for a subset of familial melanoma cases although no robust method exists to identify those at risk of being a mutation carrier.</AbstractText>We set out to construct a model for estimating CDKN2A mutation carrier probability using a cohort of 116 consecutive familial cutaneous me... |
2,336,703 | Screening the SPO11 and EIF5A2 genes in a population of infertile men. | Populations of infertile and fertile men were screened for mutations in SPO11 and EIF5A2, two infertility candidate genes. Three heterozygous amino acid changes that might contribute to infertility were identified in the infertile group. |
2,336,704 | Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy. | To develop and validate a simple and reliable single-cell analysis protocol for the preimplantation genetic diagnosis (PGD) of spinal muscular atrophy (SMA).</AbstractText>Molecular tests based on specific enzymatic digestion have already been described for SMA diagnosis. We modified the amplified DNA fragments so as t... |
2,336,705 | Gene expression and apoptosis induction in p53-heterozygous irradiated mice. | The role of the p53-genetic background in the expression of genes involved in either cell cycle checkpoint activation or apoptosis was evaluated in p53+/+ and p53+/- mouse strains at both basal levels and after DNA-induced damage. The spleen, colon, kidneys, lungs and liver of both strains were harvested from untreated... |
2,336,706 | Loss of protein structure stability as a major causative factor in monogenic disease. | The most common cause of monogenic disease is a single base DNA variant resulting in an amino acid substitution. In a previous study, we observed that a high fraction of these substitutions appear to result in reduction of stability of the corresponding protein structure. We have now investigated this phenomenon more f... |
2,336,707 | Dissecting the attention deficit hyperactivity disorder (ADHD) phenotype: sustained attention, response variability and spatial attentional asymmetries in relation to dopamine transporter (DAT1) genotype. | ADHD is a childhood-onset behavioural disorder with a heterogeneous profile of neuropsychological impairment. Neuropsychological heterogeneity may, in part, reflect underlying genetic differences. Here we examined sustained attention, response variability and spatial attentional asymmetries in a sample of children and ... |
2,336,708 | Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis patients. | The clinical impact of PGD was evaluated through the analysis of the reproductive outcome before and after PGD in the same group of poor prognosis IVF patients, undergoing PGD for chromosomal abnormalities. Based on a series of 2359 PGD cycles, resulting in the establishment of 498 chromosomal abnormality-free clinical... |
2,336,709 | Overexpression of platelet-derived growth factor receptor alpha in breast cancer is associated with tumour progression. | Receptor tyrosine kinases have been extensively studied owing to their frequently abnormal activation in the development and progression of human cancers. Platelet-derived growth factor receptors (PDGFRs) are receptors with intrinsic tyrosine kinase activity that regulate several functions in normal cells and are widel... |
2,336,710 | Identification of unique reciprocal and non reciprocal cross packaging relationships between HIV-1, HIV-2 and SIV reveals an efficient SIV/HIV-2 lentiviral vector system with highly favourable features for in vivo testing and clinical usage. | Lentiviral vectors have shown immense promise as vehicles for gene delivery to non-dividing cells particularly to cells of the central nervous system (CNS). Improvements in the biosafety of viral vectors are paramount as lentiviral vectors move into human clinical trials. This study investigates the packaging relations... |
2,336,711 | The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing. | To assess the implications of a change in prenatal diagnosis policy from full karyotype analysis to rapid trisomy testing for women referred primarily for increased risk of Down's Syndrome.</AbstractText>Retrospective collection and review of data.</AbstractText>The four London Regional Genetics Centres.</AbstractText>... |
2,336,712 | [Menkes' disease: heterozygosity testing by quantitative real-time PCR and the dilemma of therapeutic support]. | Menkes' disease is a rare X-linked multisystemic lethal disorder of copper transport metabolism. Failure of synthesis of several copper enzymes explains most of the clinical features, which were characterised by neurodegenerative symptoms and connective tissue manifestations. Most cases are still prone to rapidly progr... |
2,336,713 | Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation. | Most colorectal cancers that have high levels of microsatellite instability (MSI-H) show loss of immunohistochemical expression of proteins that participate in the DNA mismatch repair process, most often involving MLH1 and MSH2. Less commonly, a third DNA mismatch repair protein, MSH6, may also be lost as the primary e... |
2,336,714 | Cognitive performance is highly sensitive to prior experience in mice with a learning and memory deficit: failure leads to more failure. | The impact of a previously successful or unsuccessful experience on the subsequent acquisition of a related task is not well understood. The nature of past experience may have even greater impact in individuals with learning deficits, as their cognitive processes can be easily disrupted. Mice with a targeted disruption... |
2,336,715 | A mouse model recapitulating molecular features of human mesothelioma. | Malignant mesothelioma has been linked to asbestos exposure and generally has a poor prognosis because it is often diagnosed in advanced stages and is refractory to conventional therapy. Human malignant mesotheliomas accumulate multiple somatic genetic alterations, including inactivation of the NF2 and CDKN2A/ARF tumor... |
2,336,716 | Genome-wide identification and testing of superior reference genes for transcript normalization in Arabidopsis. | Gene transcripts with invariant abundance during development and in the face of environmental stimuli are essential reference points for accurate gene expression analyses, such as RNA gel-blot analysis or quantitative reverse transcription-polymerase chain reaction (PCR). An exceptionally large set of data from Affymet... |
2,336,717 | Genetically characterized positive control cell lines derived from residual clinical blood samples. | Positive control materials for clinical diagnostic molecular genetic testing are in critically short supply. High-quality DNA that closely resembles DNA isolated from patient specimens can be obtained from Epstein-Barr virus (EBV)-transformed peripheral blood lymphocyte cell lines. Here we report the development of a p... |
2,336,718 | Clinical applications of whole-blood PCR with real-time instrumentation. | As the genetic basis of many human diseases is being discovered, there is increasing need for the detection of single-nucleotide polymorphisms/mutations in medical laboratories. We describe an innovative approach that combines PCR amplification directly on whole blood and real-time detection PCR technology (WB-RTD PCR)... |
2,336,719 | Forthcoming ethical issues in biological psychiatry. | Ethical issues in biological psychiatry are framed by (i) progress in the neurosciences, and (ii) a changing socio-cultural context. With regard to forthcoming neurotechniques to modify specifically defined brain functions by pharmacological substances with selective effects, by activating neuroplasticity including neu... |
2,336,720 | Increased levels of CSF phosphorylated tau in apolipoprotein E epsilon4 carriers with mild cognitive impairment. | We investigated the correlation between the apolipoprotein E varepsilon4 allele (apoE epsilon4) carrier status, a major risk factor of Alzheimer's disease (AD), and levels of tau protein phosphorylated at threonine 231 (P-tau(231P)) in cerebrospinal fluid (CSF) in predementia and clinical stages of AD and healthy contr... |
2,336,721 | Specialization of the entomopathogenic nematode Steinernema scapterisci with its mutualistic Xenorhabdus symbiont. | The level of specialization of the entomopathogenic nematode Steinernema scapterisci with its native Xenorhabdus symbiont was investigated by testing (1) the influence of non-native bacterial strains on nematode fitness within an insect-host (Galleria mellonella) and (2) specificity of the association between the nemat... |
2,336,722 | Characterization of the MacA-MacB efflux system in Neisseria gonorrhoeae. | A homologue of the MacA-MacB ABC transporter of Escherichia coli, which recognizes and exports macrolides, was identified in Neisseria gonorrhoeae. This study was undertaken to determine whether gonococci could use the MacA-MacB homologue to express decreased susceptibility to macrolides.</AbstractText>Techniques of DN... |
2,336,723 | Self-regulation and the behavioural response to DNA risk information: a theoretical analysis and framework for future research. | The few studies conducted to date suggest that DNA risk information may be less likely to achieve behaviour change than other types of health risk information. We draw upon self-regulation theory to explain and predict the characteristics of risk information that are more and less likely to motivate behaviour change. S... |
2,336,724 | [The use of DNA analysis for diagnostics of hereditary premature ovarian failure]. | Methods of DNA-analysis of 769G --> A mutations in INHalpha1 gene and CGG-repeats polymorphism in FMRI gene have been developed for creating test-systems for genetically caused forms of premature ovarian failure (POF) diagnostics. The frequency of 769G --> A mutation among women population in Ukraine was establis... |
2,336,725 | Pharmacogenetic testing in the clinical management of schizophrenia: a decision-analytic model. | Clinical application of pharmacogenetic testing has been proposed as a means of improving treatment outcomes in psychiatry. The identification of a putative genetic test for better clozapine response in schizophrenia offers an opportunity to evaluate the cost-effectiveness of such testing. The authors performed a cost-... |
2,336,726 | Comparison efficiency of the artificial intelligence methods for the diagnosis of Acid - base and anion gap disorders. | Diagnosis of the most complicated disorders in acid-base status and accompanying electrolyte balance creates a lot of troubles for practicing physicians. The purpose of our study was to create and compare: 1) an artificial neural network, 2) genetic program, 3) fuzzy-neural system that can diagnose acid-base disorders,... |
2,336,727 | Bioinformatics meets clinical informatics. | The field of bioinformatics has exploded over the past decade. Hopes have run high for the impact on preventive, diagnostic, and therapeutic capabilities of genomics and proteomics. As time has progressed, so has our understanding of this field. Although the mapping of the human genome will certainly have an impact on ... |
2,336,728 | A comparison study: applying segmentation to array CGH data for downstream analyses. | Array comparative genomic hybridization (CGH) allows detection and mapping of copy number of DNA segments. A challenge is to make inferences about the copy number structure of the genome. Several statistical methods have been proposed to determine genomic segments with different copy number levels. However, to date, no... |
2,336,729 | Association of the IL12RB1 promoter polymorphisms with increased risk of atopic dermatitis and other allergic phenotypes. | Atopic dermatitis (AD) is frequently associated with eosinophilia, highly elevated immunoglobulin E (IgE) levels and increased levels of T-helper 2-type (Th2) cytokines in skin lesions due to infiltrating T cells. Interleukin-12 (IL-12), in combination with interferon-gamma (IFN-gamma), inhibits IgE synthesis and Th2 c... |
2,336,730 | Molecular analysis in diagnostic procedure of hearing impairment in newborns. | To determine the proportion of newborns diagnosed with hearing impairment through the hearing impairment screening program in newborns, and the frequency of 35delG/GJB2 mutation as a cause of hearing impairment. The results of the study imply the integration of the mutation analysis in the neonatal screening program.</... |
2,336,731 | Isolation and characterization of an anti-recombinant erythropoietin single-chain antibody fragment using a phage display antibody library. | The production of a large amount of specific antibodies against erythropoietin (EPO) is necessary for both clinical treatment and doping control. However, the weak immunogenicity of EPO and the side effects of excessive injection make the conventional immunological protocol rather inefficient and time-consuming. In thi... |
2,336,732 | Genetic approaches for the identification of apoptotic components. | Jun amino-terminal kinase (JNK) mediates a physiological stress signal that leads to cell death. However, the role of the JNK pathway in intrinsic cell death execution mechanisms is largely unknown. In a genetic screen for dominant suppressors of Reaper (Rpr)-induced cell death, we identified Drosophila chromosomal reg... |
2,336,733 | A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations. | Referral-based studies indicate that a mutation (G2019S) in exon 41 of the LRRK2 gene might be a common cause of Parkinson disease (PD). The authors sequenced leucine-rich repeat kinase 2 (LRRK2) exons 31, 35, and 41 in 371 consecutively recruited patients with PD and found mutations in six (1.6%) subjects, including t... |
2,336,734 | LRRK2 mutations in Parkinson disease. | To determine the frequency of LRRK2 mutations in idiopathic Parkinson disease (PD), the authors studied 786 PD probands, 32 affected siblings, 1,044 unaffected siblings, and 278 unrelated controls. The authors designed allelic discrimination assays for nine LRRK2 mutations and identified these in six probands with PD, ... |
2,336,735 | LRRK2 gene in Parkinson disease: mutation analysis and case control association study. | In addition to the four well-confirmed genes linked to early-onset Parkinson disease (PD) (SNCA, PARKIN, DJ-1, and PINK1), mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have recently been identified in families with autosomal dominant late-onset PD.</AbstractText>To perform mutation analysis of LRRK2 in pr... |
2,336,736 | Analysis of chromosome 1 microsatellite markers and the FHM2-ATP1A2 gene mutations in migraine pedigrees. | The aims of the study were: (i) to extend our linkage analysis of chromosome 1q microsatellite markers in predominantly migraine with aura pedigrees and (ii) to test the novel FHM-2 ATP1A2 gene for involvement in these migraine affected pedigrees and a previous pedigree (MF14) showing evidence of linkage of markers to ... |
2,336,737 | HIV-1 subtypes in Spain: a retrospective analysis from 1995 to 2003. | To perform a retrospective analysis of all HIV-1 non-B variants circulating in Spain from 1995 to 2003 and extend their virological characterization.</AbstractText>Samples from a total of 396 HIV-infected subjects with epidemiological suspicion of being infected with non-B clades were analysed during the study period. ... |
2,336,738 | Fitness of Cry1A-resistant and -susceptible Helicoverpa armigera (Lepidoptera: Noctuidae) on transgenic cotton with reduced levels of Cry1Ac. | The performance of Helicoverpa armigera (Hübner) on 15-wk-old cotton plants was compared for a susceptible strain, a near-isogenic laboratory-selected strain, and F1 progeny of the two strains. Glasshouse experiments were conducted to test the three insect types on conventional plants and transgenic plants that pr... |
2,336,739 | Lisch nodules after trabeculectomy. | The development of Lisch nodules in an eye that had undergone trabeculectomy with mitomycin C is described. Complete ophthalmologic examinations and genetic testing of a 12-year-old boy were performed. Lisch nodules can develop after trabeculectomy without the systemic manifestations of neurofibromatosis type 1. |
2,336,740 | Molecular diagnostic testing for inherited thrombophilia using Invader. | Physicians in the United States and Europe began testing patients who had idiopathic thrombotic events for inherited risk factors in 1990s. The College of American Pathologists (CAP) offered proficiency testing for molecular genetic screening for thrombophilia in 1997. Today, a hypercoagulable workup including screenin... |
2,336,741 | Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon? | There has been controversy regarding whether BRCA1 germline mutations favor female births or whether the sex imbalances observed are attributable to ascertainment bias. Our aims were to compare the sex ratios among offspring of BRCA1-positive, BRCA2-positive, and BRCA-negative families undergoing genetic testing in cli... |
2,336,742 | G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population. | Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzymopathy among Southeast Asians. We studied G6PD mutations in 108 migrant Cambodian laborers in Chanthaburi province and cord blood samples from 107 Cambodian newborns at Buriram Hospital. Thirty-one (26.1%) of 119 Cambodian males and ... |
2,336,743 | Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. | Heat shock protein 27 (HSP27) belongs to a family of small heat shock proteins that play significant roles in the cellular stress response and are also involved in the control of protein-protein interactions as chaperons. Mutation in HSP27 has been identified as the cause of axonal Charcot-Marie-Tooth disease (CMT) and... |
2,336,744 | A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history. | The EphB2 gene was recently implicated as a prostate cancer (PC) tumour suppressor gene, with somatic inactivating mutations occurring in approximately 10% of sporadic tumours. We evaluated the contribution of EphB2 to inherited PC susceptibility in African Americans (AA) by screening the gene for germline polymorphism... |
2,336,745 | Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. | In order to assess the frequency of aneuploidy and mosaicism in embryos obtained from IVF patients aged <38 years, preimplantation genetic screening (PGS) was performed after biopsy of two blastomeres. Furthermore, the reliability of this diagnosis was assessed by performing reanalysis of the embryo on day 5.</Abstr... |
2,336,746 | Prognostic and therapeutic significance of myeloma genetics and gene expression profiling. | Molecular diagnostic tools and novel therapeutics now offer the potential for accurate prognostic and personalized treatment road maps for patients with multiple myeloma (MM). We will review the evidence and provide specific recommendations for routine clinical molecular genetic testing and use of such information to g... |
2,336,747 | GJB2 mutations and additional disabilities in a pediatric cochlear implant population. | Children with severe to profound sensorineural hearing loss due to GJB2 mutations have often been deemed good cochlear implant candidates. Studies on children with GJB2 mutations and cochlear implants have typically excluded children with additional disabilities.</AbstractText>To investigate the presence of additional ... |
2,336,748 | Cadaveric sperm induces intergeneric androgenesis in the fish, Hemigrammus caudovittatus. | Intergeneric androgenetic golden Buenos Aires tetra (BT), Hemigrammus caudovittatus was generated using sperm drawn from post-mortem males preserved at -20 degrees C for 10, 20, 30 and 40 days or fresh sperm to activate the UV-irradiated oocytes of black widow tetra (WT), Gymnocorymbus ternetzi. UV-irradiation (4.2 W/m... |
2,336,749 | [Microarray CGH: principle and use for constitutional disorders]. | Chips technology has allowed to miniaturize process making possible to realize in one step and using the same device a lot of chemical reactions. The application of this technology to molecular cytogenetics resulted in the development of comparative genomic hybridization (CGH) on microarrays technique. Using this techn... |
2,336,750 | A biogeographic pattern in sparrow bill morphology: parallel adaptation to tidal marshes. | The study of ecological convergence, the evolution of similar traits on multiple occasions in response to similar conditions, is a powerful method for developing and testing adaptive hypotheses. However, despite the great attention paid to geographic variation and the foraging ecology of birds, surprisingly few cases o... |
2,336,751 | Origin and rapid diversification of a tropical moss. | Molecular sequences rarely evolve at a constant rate. Yet, even in instances where a clock can be assumed or approximated for a particular set of sequences, fossils or clear patterns of vicariance are rarely available to calibrate the clock. Thus, obtaining absolute timing for diversification of natural lineages can pr... |
2,336,752 | Complete trisomy 1q with mosaic Y;1 translocation: a recurrent aneuploidy presenting diagnostic dilemmas. | We present a case of a liveborn male with complete trisomy 1q in mosaic form due to a de novo unbalanced translocation. There are seven previously documented cases of complete trisomy for 1q, which demonstrate that this is a lethal condition. All cases have similar phenotype including weights greater than 50th centile ... |
2,336,753 | A pilot study testing the genetic polymorphism of N-acetyltransferase 2 as a risk factor in lung cancer. | NAT2 as phase II enzyme is involved in the detoxification/activation of various drugs, environmental substances and carcinogenic compounds. A genotyping approach has been used to investigate NAT2 genotype with putative relevance in lung cancer in population of 110 Slovak-Caucasians patients and 167 non-malignant indivi... |
2,336,754 | The protistan origins of animals and fungi. | Recent molecular studies suggest that Opisthokonta, the eukaryotic supergroup including animals and fungi, should be expanded to include a diverse collection of primitively single-celled eukaryotes previously classified as Protozoa. These taxa include corallochytreans, nucleariids, ministeriids, choanoflagellates, and ... |
2,336,755 | XPD Lys751Gln polymorphism in the etiology and outcome of childhood acute myeloid leukemia: a Children's Oncology Group report. | Genetic polymorphisms result in interindividual variation in DNA repair capacity and may, in part, account for susceptibility of a cell to genotoxic agents and to malignancy. Polymorphisms in XPD, a member of the nucleotide excision repair pathway, have been associated with development of treatment-related acute myeloi... |
2,336,756 | An adaptable microvalving system for on-chip polymerase chain reactions. | On-chip genetic analysis systems are beginning to provide a viable alternative to conventional gene profiling and amplification devices, through minimal reagent use, high detection resolution, and the potential for high-throughput parallel testing of the genetic material, even from single cells. Despite the advantages,... |
2,336,757 | Characterization and subgrouping of Campylobacter concisus strains using protein profiles, conventional biochemical testing and antibiotic susceptibility. | To characterize and subgroup clinical strains of Campylobacter concisus isolated from patients with gastrointestinal disease.</AbstractText>A total of 109 C. concisus isolates from 98 patients obtained between June 1997 and December 1998 were analysed using protein profiles, conventional biochemical tube tests, ApiCamp... |
2,336,758 | N-ethyl-N-nitrosourea mutagenesis: boarding the mouse mutant express. | In the mouse, random mutagenesis with N-ethyl-N-nitrosourea (ENU) has been used since the 1970s in forward mutagenesis screens. However, only in the last decade has ENU mutagenesis been harnessed to generate a myriad of new mouse mutations in large-scale genetic screens and focused, smaller efforts. The development of ... |
2,336,759 | Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation. | Mutations in the glucocerebrosidase (GBA) gene have been recently identified as contributory to Parkinson disease (PD) in Ashkenazi Jews. In the present study, the clinical characteristics of Ashkenazi patients with PD with GBA mutations (n = 40) were compared to those of Ashkenazi patients with PD without any known GB... |
2,336,760 | Research and practice opportunities at the intersection of health education, health behavior, and genomics. | Researchers and practitioners in health behavior and health education (HBHE) can play a pivotal leadership role in the integration of genomic advances to improve the public's health. The purpose of this article is to outline research and practice opportunities at the intersection of genomics and HBHE. We begin this art... |
2,336,761 | Marketing genetic tests: empowerment or snake oil? | Genetic tests are currently being offered to the general public with little oversight and regulation as to which tests are allowed to be sold clinically and little control over the marketing and promotion of sales and use. This article provides discussion and data to indicate that the general public holds high opinions... |
2,336,762 | Contributions of public health to genetics education for health care professionals. | With growing knowledge about the role of genetics in health, genetics education for health care professionals has taken on increasing importance. Many efforts are under way to develop new genetics curricula. Although such efforts are primarily the responsibility of health professional schools and professional societies... |
2,336,763 | Enhanced counseling for women undergoing BRCA1/2 testing: impact on subsequent decision making about risk reduction behaviors. | The authors evaluated the impact of an enhanced counseling intervention, designed to promote well-informed decision making for follow-up risk reduction options for ovarian cancer, among high-risk women undergoing BRCA1/2 testing (N = 77). Following standard genetic counseling, participants received either an enhanced c... |
2,336,764 | Will genetic testing for complex diseases increase motivation to quit smoking? Anticipated reactions in a survey of smokers. | The aim of this study was to improve understanding of smokers' potential reactions to genetic testing for smoking-related diseases. One thousand twenty-four respondents completed a postal survey; 186 were smokers. Questions addressed anticipated psychological and behavioral reactions to genetic test results using hypot... |
2,336,765 | Assessment of an interactive computer-based patient prenatal genetic screening and testing education tool. | The Enhancing Patient Prenatal Education study tested the feasibility and educational impact of an interactive program for patient prenatal genetic screening and testing education. Patients at two private practices and one public health clinic participated (N = 207). The program collected knowledge and measures of anxi... |
2,336,766 | Management of the patient and family with neurofibromatosis 2: a consensus conference statement. | A consensus conference on neurofibromatosis 2 (NF2) was held in 2002 at the request of the United Kingdom (UK) Neurofibromatosis Association, with particular emphasis on vestibular schwannoma (VS) surgery. NF2 patients should be managed at specialty treatment centres, whose staff has extensive experience with the disea... |
2,336,767 | Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders. | The routine testing for pathologic mutation(s) in a patient's DNA has become the foundation of modern molecular genetic diagnosis. It is especially valuable when the phenotype shows genetic heterogeneity, and its importance will grow as treatments become genotype specific. However, the technology of mutation detection ... |
2,336,768 | Screening for new MTHFR polymorphisms and NTD risk. | The enzyme, 5,10-methylenetetrahydrofolate reductase (MTHFR) plays a key role in cellular folate metabolism. The A222V (677C->T) polymorphism is a confirmed neural tube defect (NTD) risk factor within Irish and other populations. To search for other unknown single nucleotide polymorphisms (SNPs) that might play a ro... |
2,336,769 | Microsatellite marker analysis as a typing system for Candida glabrata. | Candida glabrata is one of the most important causes of nosocomial fungal infection. We investigated, using a multiplex PCR, three polymorphic microsatellite markers, RPM2, MTI, and ERG3, in order to obtain a rapid genotyping method for C. glabrata. One set of primers was designed for each locus, and one primer of each... |
2,336,770 | Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the U.S. Preventive Services Task Force. | Clinically significant mutations of BRCA1 and BRCA2 genes are associated with increased susceptibility for breast and ovarian cancer. Although these mutations are uncommon, public interest in testing for them is growing.</AbstractText>To determine benefits and harms of screening for inherited breast and ovarian cancer ... |
2,336,771 | Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. | This statement summarizes the U.S. Preventive Services Task Force (USPSTF) recommendations on genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility, along with the supporting scientific evidence. The complete information on which this statement is based, including evidence table... |
2,336,772 | A new tool in the battle against Alzheimer's disease and aging: ex vivo gene therapy. | Alzheimer's disease (AD) is the most common cause of severe dementia in the aging population and is caused by a loss of many different neural systems throughout the brain associated with memory. Amongst the many neural systems affected, large cholinergic projection neurons that innervate large regions of cortex are par... |
2,336,773 | Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. | We report the clinicopathological, genetic, and immunohistochemical characterization of an atypical Turcot syndrome (TS) family with small bowel cancer. The tumor family history of a patient with cafè-au-lait spots (CALS) and early onset adenomas, duodenal cancer, and glioblastoma was positive for colonic adenoma ... |
2,336,774 | Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split. | Glucose-6-phosphate dehydrogenase (G6PD) deficiency protects from severe forms of malaria. It is interesting therefore to analyze the molecular basis underlying G6PD deficiency in regions such as the Mediterranean basin where malaria was present for a long time in history. Here we report on the genetic characterization... |
2,336,775 | The effect of polymorphisms in the enhancer of split gene complex on bristle number variation in a large wild-caught cohort of Drosophila melanogaster. | The Enhancer of split complex [E(spl)-C] in Drosophila encompasses a variety of functional elements controlling bristle patterning and on the basis of prior work is a strong candidate for harboring alleles having subtle effects on bristle number variation. Here we extend earlier studies identifying associations between... |
2,336,776 | Mutations in the Drosophila orthologs of the F-actin capping protein alpha- and beta-subunits cause actin accumulation and subsequent retinal degeneration. | The progression of several human neurodegenerative diseases is characterized by the appearance of intracellular inclusions or cytoskeletal abnormalities. An important question is whether these abnormalities actually contribute to the degenerative process or whether they are merely manifestations of cells that are alrea... |
2,336,777 | Keratins as susceptibility genes for end-stage liver disease. | <AbstractText Label="BACKGROUND & AIMS" NlmCategory="OBJECTIVE">Keratins 8 and 18 protect the liver from stress. Keratin 8 and 18 variants in 17 of 467 liver disease explants and 2 of 349 blood bank controls were previously reported in 5 analyzed exonic regions. We asked whether mutations were present in the remain... |
2,336,778 | Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients. | <AbstractText Label="BACKGROUND & AIMS" NlmCategory="OBJECTIVE">A significant proportion of Lynch syndrome cases are believed to be due to large genomic alterations in the mismatch repair genes hMLH1 and hMSH2. However, previous studies have not adequately identified the frequency and scope of such mutations, and r... |
2,336,779 | [Familial Mediterranean fever among the autoimmune diseases]. | During the first attacks of familial Mediterranean fever, each of the disease symptoms can suggest a series of disorders. When the disease is older, the recurrence of symptoms may simulate some systemic diseases, but mainly suggests familial Mediterranean fever, one of a group of hereditary autoinflammatory diseases. B... |
2,336,780 | Early environmental origins of neurodegenerative disease in later life. | Parkinson disease (PD) and Alzheimer disease (AD), the two most common neurodegenerative disorders in American adults, are of purely genetic origin in a minority of cases and appear in most instances to arise through interactions among genetic and environmental factors. In this article we hypothesize that environmental... |
2,336,781 | Rational design of a plasmid DNA vaccine capable of eliciting cell-mediated immune responses to multiple HIV antigens in mice. | Given the importance of the HIV-specific cell-mediated immune response in the early control and resolution of HIV infection and the observed correlation between pre-challenge vaccine elicited CTL responses and post challenge outcome in SHIV/rhesus macaque experiments, we sought to identify several candidate plasmid DNA... |
2,336,782 | Semi-synthetic mammalian gene regulatory networks. | In recent years gene network engineers have celebrated spectacular success: Genetic devices such as epigenetic toggle switches and oscillating networks have been engineered and pioneered a new ever-increasing scientific community known as synthetic biology. While synthetic biology was until recently restricted to netwo... |
2,336,783 | Telomerase-immortalized human fibroblasts retain UV-induced mutagenesis and p53-mediated DNA damage responses. | Immortalized cells frequently have disruptions of p53 activity and lack p53-dependent nucleotide excision repair (NER). We hypothesized that telomerase immortalization would not alter p53-mediated ultraviolet light (UV)-induced DNA damage responses. DNA repair proficient primary diploid human fibroblasts (GM00024) were... |
2,336,784 | Risk of breast cancer recurrence and contralateral breast cancer in relation to BRCA1 and BRCA2 mutation status following breast-conserving surgery and radiotherapy. | BRCA1 and BRCA2 germline mutations are associated with a strong risk of breast cancer, which may preclude breast-conserving treatment in carriers. This study examined whether mutation status influenced the rate of breast cancer recurrence following breast-conserving treatment. BRCA1 and BRCA2 genes were screened for ge... |
2,336,785 | [Extending preimplantation genetic diagnosis to HLA typing: the Paris experience]. | Preimplantation genetic diagnosis (PGD) consists in the genetic analysis of one or two cells. These cells (blastomeres) are sampled from embryos, obtained by in vitro fertilization, at the third day of development. Since 1998, the bioethical laws (1994) and their decrees restricted PGD practices in France, strictly to ... |
2,336,786 | ["Designer baby" changed to French for "double hope baby"]. | Scientific advances during the last decades regarding potential intervention on embryos arouse many questions in society to prepare the ground concerning the limits that should be set for these practices. For the first time in 1994, a parliamentary proceeding allowed the definition of a French model of bioethics throug... |
2,336,787 | [Preimplantation genetic diagnosis in order to choose a saviour sibling]. | Preimplantation genetic diagnosis with HLA matching in order to bring about the birth of a saviour sibling is not mere instrumentalisation of the future child, as long as the post natal test is used and the future child will be looked after with the same love and care as if he/she had not been selected as well for the ... |
2,336,788 | No association between monoamine oxidase A promoter polymorphism and personality traits in Japanese females. | Monoamine oxidase A (MAO-A) is an enzyme involved in the metabolism of monoamine neurotransmitters such as dopamine, serotonin, and noradrenaline in the brain. Previous studies have demonstrated a significant association between MAO-A gene polymorphism and personality traits in males. The purpose of the present study w... |
2,336,789 | Progress towards an HIV-1 subtype C vaccine. | Several scientific fields related to vaccine development have made significant advances in understanding how to design immunogens against selected infectious pathogens. In the case of human immunodeficiency virus type-1 (HIV-1), anti-retroviral (ARV) drugs have dramatically improved the health and extended the lives of... |
2,336,790 | Biochemical and cytochemical evaluation of heterozygote individuals with glucose-6-phosphate dehydrogenase deficiency. | The aim of this study was to diagnose heterozygous glucose-6-phosphate dehydrogenase (G6PD) deficient females by an inexpensive cytochemical G6PD staining method that is easy to perform, allowing diagnosis of G6PD deficiency without cumbersome genetic analysis. Three subject groups were included in the study. The first... |
2,336,791 | The T-box transcription factor SEA-1 is an autosomal element of the X:A signal that determines C. elegans sex. | Sex is determined in C. elegans by a chromosome-counting mechanism that tallies X chromosome dose relative to the sets of autosomes, the X:A ratio. A group of genes on X called X signal elements (XSEs) communicates X chromosome number by repressing the activity of the master sex-determination switch gene xol-1 in a dos... |
2,336,792 | ["Jaw drop" as an atypical manifestation of Kennedy's disease]. | Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is an inherited X-linked degenerative disorder characterised by slowly progressive proximal limb weakness, bulbar weakness, fasciculations, signs of androgen insensitivity and characteristic EMG findings. The disease is caused by a trinucleotide (CAG) rep... |
2,336,793 | A comparison of case-control and family-based association methods: the example of sickle-cell and malaria. | There has been much debate about the relative merits of population- and family-based strategies for testing genetic association, yet there is little empirical data that directly compare the two approaches. Here we compare case-control and transmission/disequilibrium test (TDT) study designs using a well-established gen... |
2,336,794 | Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies. | Hemoglobinopathies constitute a major health problem worldwide, with a high carrier frequency, particularly in certain regions where malaria has been endemic. These disorders are characterized by a vast clinical and hematological phenotypic heterogeneity. Over 1,200 different genetic alterations that affect the DNA seq... |
2,336,795 | Do-it-yourself diagnosis. | Despite apprehension and controversy, direct-to-consumer genetic tests are becoming more popular |
2,336,796 | We can change the future. | Is genetic testing a powerful tool for determining the health prospects of our children? |
2,336,797 | Auditory deficits associated with the frings mgr1 (mass1) mutation in mice. | The gene responsible for the audiogenic seizure (AGS) phenotype in Frings mice, which was identified and originally designated Mass1, is now referred to as Mgr1. Although the function of the gene product is not known, the expression pattern suggests a role in the developing CNS. Hearing impairment is often observed in ... |
2,336,798 | Functional genomics analysis of foliar condensed tannin and phenolic glycoside regulation in natural cottonwood hybrids. | Regulation of leaf condensed tannins (CT) and salicylate-derived phenolic glycosides (PG) in fast- and slow-growing cottonwood backcrosses was analyzed by metabolic profiling and cDNA microarray hybridization. Seven hybrid lines of Populus fremontii L. and P. angustifolia James exhibiting growth/CT-PG phenotypes rangin... |
2,336,799 | Sec15, a component of the exocyst, promotes notch signaling during the asymmetric division of Drosophila sensory organ precursors. | Asymmetric division of sensory organ precursors (SOPs) in Drosophila generates different cell types of the mature sensory organ. In a genetic screen designed to identify novel players in this process, we have isolated a mutation in Drosophila sec15, which encodes a component of the exocyst, an evolutionarily conserved ... |
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