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2,336,400 | Genetic predisposition to cancer. | Over recent decades a number of genes causing predisposition to cancer have been identified. Some of these cause rare autosomal dominant monogenic cancer predisposition syndromes. In the majority of families, the increased incidence of cancers is due to a multifactorial aetiology with a number of lower penetrance cance... |
2,336,401 | Pharmacogenetics of irinotecan: a promoter polymorphism of UGT1A1 gene and severe adverse reactions to irinotecan. | This review focuses on a pharmacogenetic association between genetic polymorphism of UGT1A1 gene and severe adverse reactions to irinotecan. Although many studies used pharmacokinetic parameters as surrogate measures for predicting clinical outcomes of irinotecan chemotherapy, they have not produced consistent evidence... |
2,336,402 | A genomewide screen for petite-negative yeast strains yields a new subunit of the i-AAA protease complex. | Unlike many other organisms, the yeast Saccharomyces cerevisiae can tolerate the loss of mitochondrial DNA (mtDNA). Although a few proteins have been identified that are required for yeast cell viability without mtDNA, the mechanism of mtDNA-independent growth is not completely understood. To probe the relationship bet... |
2,336,403 | mILD: a tool for constructing and analyzing matrices of pairwise phylogenetic character incongruence tests. | Pairwise comparisons of disagreement in phylogenetic datasets offer a powerful tool for isolating historical incongruence for closer analysis. Statistically significant phylogenetic character incongruence may reflect important differences in evolutionary history, such as horizontal gene transfer. Such testing can also ... |
2,336,404 | Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | This work describes an approach to characterize the clinical significance of genetic variants detected during the genetic testing of BRCA1 in patients from hereditary breast/ovarian cancer families. Results from transgenic mice and extensive clinical testing support the hypothesis that biallelic BRCA1 mutations result ... |
2,336,405 | Attack behaviors in mice: from factorial structure to quantitative trait loci mapping. | The emergence or non-emergence of attack behavior results from interaction between the genotype and the conditions under which the mice are tested. Inbred mice of the same strain reared or housed under conditions do not react the same way; reactions also vary according to the place selected for testing and the differen... |
2,336,406 | Proposed methods for testing and selecting the ERCC external RNA controls. | The External RNA Control Consortium (ERCC) is an ad-hoc group with approximately 70 members from private, public, and academic organizations. The group is developing a set of external RNA control transcripts that can be used to assess technical performance in gene expression assays. The ERCC is now initiating the Testi... |
2,336,407 | Multiple testing in the context of haplotype analysis revisited: application to case-control data. | We have lately presented a testing procedure for family data which accounts for the multiple testing problem that is induced by the enormous number of different marker combinations that can be analyzed in a set of tightly linked markers. Most methods of haplotype based association analysis already require simulations t... |
2,336,408 | Tests of association between quantitative traits and haplotypes in a reduced-dimensional space. | Candidate gene association tests are currently performed using several intragenic SNPs simultaneously, by testing SNP haplotype or genotype effects in multifactorial diseases or traits. The number of haplotypes drastically increases with an increase in the number of typed SNPs. As a result, large numbers of haplotypes ... |
2,336,409 | Clinical and ethical implications of genetic counselling in familial adenomatous polyposis. | The association of specific genetic disturbances with the development of hereditary cancer helps us to understand the risk of suffering from it, the possibility of an earlier diagnosis, and the treatment and prevention of this disease. Familial adenomatous polyposis (FAP) is a pre-neoplastic syndrome characterized by t... |
2,336,410 | Applying theological developments to bioethical issues such as genetic screening. | Catholic movements within the centre of Roman Catholic doctrine recently have discussed Trinitarian theology as applied to sciences, arts, economics, health and other social areas. We explore the possibilities Trinitarian theology offers to bioethical debate, concentrating particularly on genetic screening and testing.... |
2,336,411 | Characterization of newly established oral cancer cell lines derived from six squamous cell carcinoma and two mucoepidermoid carcinoma cells. | Since genetic abnormalities of human cancer are greatly geographically dependent, cultural and environmental backgrounds are thought to be closely related to the carcinogenic process. In the present study, eight human cell lines were established by culture from untreated carcinomas of the oral cancer, of which five wer... |
2,336,412 | Transmission of hepatitis C virus to several organ and tissue recipients from an antibody-negative donor. | Although hepatitis C virus (HCV) transmission through tissue transplantation has been rarely reported, a donor with undetected viremia may infect several recipients. A patient developed acute hepatitis C shortly after tissue transplantation. Ninety-one tissues or organs had been recovered from the donor.</AbstractText>... |
2,336,413 | Variant translocation with a deletion of derivative (9q) in a case of Philadelphia chromosome positive (Ph +) essential thrombocythemia (ET), a variant of chronic myelogenous leukemia (CML) with a poor prognosis. | Patients presenting with thrombocytosis require thorough clinical and laboratory evaluation to determine whether they suffer from essential thrombocythemia or another myeloproliferative disorder. This distinction becomes increasingly relevant as targeted agents become available to treat specific myeloproliferative dise... |
2,336,414 | A rapid, physiologic protocol for testing transcriptional effects of thyroid-disrupting agents in premetamorphic Xenopus tadpoles. | Increasing numbers of substances present in the environment are postulated to have endocrine-disrupting effects on vertebrate populations. However, data on disruption of thyroid signaling are fragmentary, particularly at the molecular level. Thyroid hormone (TH; triiodothyronine, T3) acts principally by modulating tran... |
2,336,415 | Testing assumptions for endophenotype studies in ADHD: reliability and validity of tasks in a general population sample. | Advances in both genetic and cognitive-experimental studies on attention deficit hyperactivity disorder (ADHD) have opened new opportunities for cognitive endophenotype research. In such genetic designs the focus is on individual differences in characteristics, associated with ADHD, that can be measured reliably over t... |
2,336,416 | Resistance to abomasal nematodes and individual genetic variability in reindeer. | Resistance to parasites is believed to have a widespread influence on demographic and adaptive processes. In systems where parasites impose a fitness cost on their host, heterozygotes may be selected because they are more resistant to parasites than homozygotes. Our objective was to assess the relationships between gen... |
2,336,417 | Intermediate phenotypes in schizophrenia: a selective review. | Studies aiming to identify susceptibility genes for schizophrenia and other complex psychiatric disorders are faced with the confounds of subjective clinical criteria, commonly occurring phenocopies, significant between-subject variability of candidate traits, and the likelihood of allelic and locus heterogeneity that ... |
2,336,418 | The role of genetic factors in maintaining health. | This article reviews the essential background information nurses need to help them understand how genetics influences health and ill-health. The typical human genetic make-up is described, along with an explanation of how changes to this can result in disease. The author also describes the characteristics of different ... |
2,336,419 | A new method for identifying informative genetic markers in selectively bred rats. | Microsatellite length polymorphisms are useful for the mapping of heritable traits in rats. Over 4000 such microsatellites have been characterized for 48 inbred rat strains and used successfully to map phenotypes that differ between strains. At present, however, it is difficult to use this microsatellite database for m... |
2,336,420 | Periconceptional clinics: a medical health care infrastructure of new genetics. | The necessary paradigm shift of medical prevention and health promotion from general prevention to specific genetic-oriented prevention require two crucial points: the selection of the optimal time for the primary prevention of birth defects and predictive genetic testing and the establishment of the appropriate health... |
2,336,421 | Expression of vascular endothelial growth factor (VEGF) and its receptors in thyroid carcinomas of follicular origin: a potential autocrine loop. | The aim of this study was to clarify the role of vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) pathways in thyroid tumourigenesis.</AbstractText>We examined VEGF, VEGFR-1 and VEGFR-2 expression on 34 papillary thyroid carcinomas (PTCs), 18 follicular thyroid carcinomas (FTCs), eight poorly differe... |
2,336,422 | Interest of adolescents in genetic testing for nicotine addiction susceptibility. | Genetic tests for nicotine addiction susceptibility may someday offer preventive medicine specialists new tools to reduce smoking among adolescents. This paper examines adolescents' interest in, and reasons behind interest in, such testing and correlates of interest.</AbstractText>The sample included 211 healthy patien... |
2,336,423 | [Genetic polymorphism analysis of 6 STR loci on the X chromosome in Xi'an Han population]. | To investigate the alleles and genotypes frequency of 6 short tandem repeat (STR) loci (DXS8378, DXS7132, DXS6789, DXS101, HPRTB and DXS7423) on the X chromosome in Han population.</AbstractText>The six X-chromosome STR loci were analyzed by PCR following polyacylamide gel electrophoresis and silver stain.</AbstractTex... |
2,336,424 | Fetal therapy and cytogenetic testing: prenatal detection of chromosome aberration during thoracocentesis for congenital chylothorax by karyotyping from pleural effusion fluid and review of the literature. | This report serves to emphasize the necessity of rapid cytogenetic testing during fetal therapy for congenital hydrothorax and to review the literature. A 31-year-old primigravid woman was noted to have bilateral fetal hydrothorax, polyhydramnios, and preterm labor at 32 weeks' gestation. Echo-guided thoracocentesis wa... |
2,336,425 | Incidence of the del35G/GJB2 mutation in Croatian newborns with hearing impairment. | The de135G mutation in the GJB2 gene is the most common cause of prelingual deafness. The mutation frequency has so far been estimated either by testing symptomatic children or adults, or by carrier testing of the general population. The purpose of our study was to establish the incidence of the del35G/GJB2 mutation in... |
2,336,426 | Mass spectrometry-based loss of heterozygosity analysis of single-nucleotide polymorphism loci in paraffin embedded tumors using the MassEXTEND assay: single-nucleotide polymorphism loss of heterozygosity analysis of the protein tyrosine phosphatase receptor type J in familial colorectal cancer. | As the number of identified single-nucleotide polymorphisms (SNPs) increases, high-throughput methods are required to characterize the informative loci in large patient series. We investigated the feasibility of MassEXTEND LOH analysis using Sequenom's MassArray RT software, a mass spectrometry method, as an alternativ... |
2,336,427 | Simultaneous genotyping of DRB1/3/4/5 loci by oligonucleotide microarray. | Matching of the HLA antigens for donor-recipient in transplantation, disease predisposition or protection, population studies, and forensic testing requires accurate but simple typing methods. Here, we describe a DNA-based tissue-typing assay that determines the haplotype of the DRB1/3/4/5 loci in hy-bridization of oli... |
2,336,428 | [Expression and activity determination of TNFR domain of osteoprotegerin in E.coli and corresponding antibody preparation]. | Osteoprotegerin (OPG) plays an important role in the regulation of bone resorption and remodeling. The TNFR domain of OPG, which is involved in the inhibition of formation and activity of osteoclasts, was amplified by PCR and inserted into multiple cloning site of PET-28a. The recombinant plasmid was transferred into E... |
2,336,429 | Development of an interactive computer-assisted instruction (ICAI) program for patient prenatal genetic screening and carrier testing for use in clinical settings. | Educating patients on prenatal genetic screening and carrier testing in a timely and effective manner is faced with barriers including, providers' limited knowledge, and little time available to spend discussing screening and testing during a visit. This paper describes the use of cognitive response interviews (CRI) an... |
2,336,430 | Development of real-time diagnostic assays specific for Mycoplasma mycoides subspecies mycoides Small Colony. | Rapid and specific detection of Mycoplasma mycoides subsp. mycoides Small Colony (M. mycoides SC) is important for the effective control of contagious bovine pleuropneumonia. Although the United States has been free of this disease for over 100 years, it is necessary to develop modern diagnostic assays that are sensiti... |
2,336,431 | Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. | Mutations in the PINK1 gene have been shown to cause autosomal recessive Parkinson's disease (PD) and/or early onset sporadic PD in Italy, Spain, North America, Ireland, and Asia. However, there are limited data on PINK1 mutations in sporadic early onset Asian PD patients. To determine the prevalence of PINK1 mutation ... |
2,336,432 | Mlh1-dependent suppression of specific mutations induced in vivo by the food-borne carcinogen 2-amino-1-methyl-6-phenylimidazo [4,5-b] pyridine (PhIP). | Disruption of the DNA mismatch repair (MMR) pathway results in elevated mutation rates, inappropriate survival of cells bearing DNA damage, and increased cancer risk. Relatively little is known about the potential impact of environmentally relevant carcinogens on cancer risk in individuals with MMR-deficiency. We deter... |
2,336,433 | Microsatellite analysis of pooled Schistosoma mansoni DNA: an approach for studies of parasite populations. | Human parasites are often distributed in metapopulations, which makes random sampling for genetic epidemiology difficult. The typical approach to sampling Schistosoma mansoni involves laboratory passage to obtain individual worms with small sample size and selection bias as a consequence. By contrast, the naturally poo... |
2,336,434 | Early B-cell Factor gene association with multiple sclerosis in the Spanish population. | The etiology of multiple sclerosis (MS) is at present not fully elucidated, although it is considered to result from the interaction of environmental and genetic susceptibility factors. In this work we aimed at testing the Early B-cell Factor (EBF1) gene as a functional and positional candidate risk factor for this neu... |
2,336,435 | Specificity and overlap in gene segment-defined antibody repertoires. | To date several studies have sought to catalog the full suite of antibodies that humans naturally produce against single antigens or other specificities (repertoire). Here we analyze the properties of all sequenced repertoires in order to better understand the specificity of antibody responses. Specifically, we ask whe... |
2,336,436 | Role of nucleic acid testing in cadaver organ donor screening: detection of hepatitis C virus RNA in seropositive and seronegative donors. | Hepatitis C virus (HCV) transmission by both seropositive and seronegative cadaver organ donors has been documented, yet nucleic acid testing is not routinely used to identify active infection in these donors prior to transplantation. Between November 2001 and February 2004, we screened 1445 cadaver organ donors for an... |
2,336,437 | Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis. | Molecular genetic testing involves DNA analysis using various methods for the purpose of diagnosing genetic disorders. In the prenatal DNA diagnostic setting, fetal DNA is usually tested for a specific single-gene disorder for which the fetal risk is 25% or more. In contrast, cytogenetic testing is often used to detect... |
2,336,438 | Genetic testing for hearing impairment. | For some patients, genetic testing can reveal the etiology of their hearing impairment, and can provide evidence for a medical diagnosis. However, a gap between fundamental genetic research on hereditary deafness and clinical otology emerges because of the steadily increasing number of discovered genes for hereditary h... |
2,336,439 | Utility and limitations of genetic testing and information. | This article introduces some of the issues involved in genetic testing and information, particularly the utility and limitations of such testing. Psychosocial and ethical issues that may arise in this area are also discussed. The aim of this article is to stimulate readers' awareness of and insight into these matters i... |
2,336,440 | MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients. | Familial Mediterranean fever (FMF) is an autosomal-recessive disorder characterized by recurrent attacks of fever, with abdominal, thoracic, or articular pain. FMF is particularly common in Mediterranean populations, while other populations are rarely affected. MEFV gene analysis provides the only objective diagnostic ... |
2,336,441 | Performance of the revised Bethesda guidelines for identification of colorectal carcinomas with a high level of microsatellite instability. | Criteria for microsatellite instability (MSI) testing to rule out hereditary nonpolyposis colorectal cancer were recently revised and include parameters such as age and specific histologic features that can be identified by the pathologist, triggering reflex MSI testing.</AbstractText>To review the performance of the r... |
2,336,442 | Testing for defective DNA mismatch repair in colorectal carcinoma: a practical guide. | Significant bench and clinical data have been generated during the last decade regarding DNA mismatch repair in colorectal carcinoma.</AbstractText>To review clinically relevant aspects of defective DNA mismatch repair in colorectal carcinoma and to suggest testing algorithms for identification of these tumors in the s... |
2,336,443 | Assessment of allied health graduates' preparation to integrate genetic knowledge and skills into clinical practice. | Allied health professionals are in a unique position to address the concerns of and provide information to clients with genetic disorders. This study assessed the preparation of recent graduates of allied health training programs to provide these services by determining their (1) professional practices, (2) confidence ... |
2,336,444 | Surveillance behavior and prophylactic surgery after predictive testing for hereditary breast/ovarian cancer. | This article describes breast or ovarian cancer surveillance practices and prophylactic surgery involving 34 carriers and 34 noncarriers of a BRCA1/2 mutation within the year after predictive testing. It also evaluates the effect of the predictive test result on cancer screening practices and provides insight into fact... |
2,336,445 | Multicapillary electrophoresis of unlabeled DNA fragments with high-sensitive laser-induced fluorescence detection by counter-current migration of intercalation dye. | Analysis of PCR fragments for applications, such as screening of nucleotide polymorphisms, detection of somatic mutations, or quantification of reverse-transcription PCR products, becomes central in clinical research as well as preventive testing, diagnostic screening, and pharmacogenomic genotyping. A variety of CE te... |
2,336,446 | Molecular evolution of evolutionary novelties: the vagina and uterus of therian mammals. | Innovations are an integral part of the evolutionary process if we accept the fact that more complex organisms derived from anatomically simple ones. All major taxa are distinguished not only by their closer genealogical relatedness relative to other species but also by the possession of novel anatomical and physiologi... |
2,336,447 | Interaction analysis between 5-HTTLPR and TNFA -238/-308 polymorphisms in schizophrenia. | This study investigated the potential interaction between the polymorphisms of serotonin transporter gene (SLC6A4, a 44 base pair insertion/deletion in the promoter region, 5-HTTLPR) and tumor necrosis factor-alpha gene (TNFA; -238G/A and -308G/A polymorphisms) on the development of schizophrenia, as well as the intera... |
2,336,448 | DBH*444G/A polymorphism of the dopamine-beta-hydroxylase gene is associated with alcoholism but not with severe alcohol withdrawal symptoms. | As the enzyme dopamine-beta-hydroxylase (DbetaH) converts dopamine to norepinephrine and both transmitters seem to be involved in the pathology of alcoholism and severe alcohol withdrawal symptoms, the gene encoding DbetaH (DBH) was applied to explore the genetic background of alcoholism and severe withdrawal symptoms.... |
2,336,449 | Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants. | As part of a recent high-density linkage disequilibrium (LD) study of chromosome 20, we obtained genotypes for approximately 30,000 SNPs at a density of 1 SNP/2 kb on four different population samples (47 CEPH founders; 91 UK unrelateds [unrelated white individuals of western European ancestry]; 97 African Americans; 4... |
2,336,450 | Ascertainment bias in studies of human genome-wide polymorphism. | Large-scale SNP genotyping studies rely on an initial assessment of nucleotide variation to identify sites in the DNA sequence that harbor variation among individuals. This "SNP discovery" sample may be quite variable in size and composition, and it has been well established that properties of the SNPs that are found a... |
2,336,451 | Expression of the mef(E) gene encoding the macrolide efflux pump protein increases in Streptococcus pneumoniae with increasing resistance to macrolides. | Active macrolide efflux is a major mechanism of macrolide resistance in Streptococcus pneumoniae in many parts of the world, especially North America. In Canada, this active macrolide efflux in S. pneumoniae is predominantly due to acquisition of the mef(E) gene. In the present study, we assessed the mef(E) gene sequen... |
2,336,452 | Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis. | Mutations in the alpha-actinin-4 gene (ACTN4) cause an autosomal dominant form of focal segmental glomerulosclerosis (FSGS). A mutational analysis was performed of ACTN4 in DNA from probands with a family history of FSGS as well as in individuals with nonfamilial FSGS. The possible contribution of noncoding variation i... |
2,336,453 | Mouse models in preclinical studies for pachyonychia congenita. | The similarities between the human and mouse genomes often allow researchers to make accurate predictions about the roles of their human counterparts. Because of the similar physiology between these two mammals, mice are used extensively in the laboratory to investigate the mechanisms of human diseases. Furthermore, mi... |
2,336,454 | Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis. | To determine the influence of HLA-B27 homozygosity and HLA-DRB1 alleles in the susceptibility to, and severity of, ankylosing spondylitis in a Finnish population.</AbstractText>673 individuals from 261 families with ankylosing spondylitis were genotyped for HLA-DRB1 alleles and HLA-B27 heterozygosity/homozygosity. The ... |
2,336,455 | Study of the role of functional variants of SLC22A4, RUNX1 and SUMO4 in systemic lupus erythematosus. | Functional polymorphisms of the solute carrier family 22, member 4 (SLC22A4), runt related transcription factor 1 (RUNX1) and small ubiquitin-like modifier 4 (SUMO4) genes have been shown to be associated with several autoimmune diseases.</AbstractText>To test the possible role of these variants in susceptibility to or... |
2,336,456 | Determinants of transcription initiation by archaeal RNA polymerase. | Transcription in Archaea is catalyzed by an RNA polymerase that is most similar to eukaryotic RNA polymerases both in subunit composition and in transcription initiation factor requirements. Recent studies on archaeal transcription in diverse members of this domain have contributed new details concerning the functions ... |
2,336,457 | Epigenetics of cervical cancer. An overview and therapeutic perspectives. | Cervical cancer remains one of the greatest killers of women worldwide. It is difficult to foresee a dramatic increase in cure rate even with the most optimal combination of cytotoxic drugs, surgery, and radiation; therefore, testing of molecular targeted therapies against this malignancy is highly desirable. A number ... |
2,336,458 | DNA extraction and analysis from processed coffee beans. | The authenticity of coffee is an important issue for both producers and consumers. Premium Arabica material is especially prone to being adulterated, and a number of different techniques have been employed to determine the quality of both roasted and instant coffee. Currently, assessment of coffee authenticity relies o... |
2,336,459 | Fragile X syndrome: diagnostic and carrier testing. | This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all pr... |
2,336,460 | Technical standards and guidelines: molecular genetic testing for ultra-rare disorders. | These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines sho... |
2,336,461 | Newborn blood spot screening and genetic services: a survey of Minnesota primary care physicians. | To (1) obtain guidance on the preferred content and format of quick reference newborn blood spot screening information from the Minnesota Department of Health; (2) determine primary care physicians' perceptions of the benefits of genetic services; and (3) determine primary care physicians' satisfaction with genetic cou... |
2,336,462 | Patient acceptability of genotypic testing for hemochromatosis in primary care. | Genetic screening can enable timely detection and treatment of hereditary hemochromatosis (HH). Little is known about patient acceptability of DNA testing as compared to conventional phenotypic testing.</AbstractText>Within the HEIRS Study, a large primary-care screening study of HH and iron overload, we randomly assig... |
2,336,463 | Comparison of genotypic and phenotypic strategies for population screening in hemochromatosis: assessment of anxiety, depression, and perception of health. | Hemochromatosis is a treatable disorder with a major genetic predisposition. It provides an example in which genotypic and phenotypic strategies for screening may be compared. We previously showed noninferiority of uptake of a genotypic population screening strategy for hemochromatosis compared with a phenotypic strate... |
2,336,464 | Developing a sustainable process to provide quality control materials for genetic testing. | To provide a summary of the outcomes of two working conferences organized by the Centers for Disease Control and Prevention (CDC), to develop recommendations for practical, sustainable mechanisms to make quality control (QC) materials available to the genetic testing community.</AbstractText>Participants were selected ... |
2,336,465 | Analysis of LRRK2 functional domains in nondominant Parkinson disease. | A comprehensive sequence analysis of 29 exons that code for the functional domains of LRRK2 in 160 nondominant Parkinson disease (PD) patients was performed. Novel variant screening in a further 470 sporadic PD patients and 630 controls revealed two novel variants (R1067Q and IVS33 + 6 T>A), which are likely to be p... |
2,336,466 | Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation. | The authors describe a family with autosomal dominant rippling muscle disease (RMD) and prominent early-onset toe walking. Molecular analysis revealed a novel heterozygous G > A transition at nucleotide position 136 in exon 2 of the caveolin-3 gene (CAV3). The role of Achilles tendon lengthening in more severe forms... |
2,336,467 | A review of juvenile polyposis syndrome. | Juvenile Polyposis Syndrome is an uncommon hamartomatous disorder with significant gastrointestinal malignant potential. Mutations in SMAD4 and BMPR1A, implicated in the Transforming Growth Factor beta pathway, have recently been characterized, and hold significance in the management of patients and at risk family memb... |
2,336,468 | Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. | Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including short stature, sparse hair, metaphyseal dysplasia, anemia, immune deficiency, and increased incidence of cancer. Molecular diagnosis of CHH has implications ... |
2,336,469 | Efficiency and power in genetic association studies. | We investigated selection and analysis of tag SNPs for genome-wide association studies by specifically examining the relationship between investment in genotyping and statistical power. Do pairwise or multimarker methods maximize efficiency and power? To what extent is power compromised when tags are selected from an i... |
2,336,470 | The patent is political: the consequences of patenting the BRCA genes in Britain. | The paper explores the attempt by an American biotechnology company, Myriad Genetics, to use its patent rights over the BRCA genes to transfer its technology of genetic testing for breast and ovarian cancer to Britain. It also investigates the responses of British scientists, health care professionals and patient advoc... |
2,336,471 | Balancing innovation and access to healthcare through the patent system--an Australian perspective. | This article examines the enforcement of gene and other research tool patents in Australia. An empirical analysis of patenting practices in the Australian medical biotechnology industry showed heightened concern about the impact of patents on research and diagnostic testing, but provided little evidence to support thes... |
2,336,472 | What are gene patents and why are people worried about them? | This article examines what it means to patent a gene. Numerous ethical concerns have been raised about the effects of such patents on clinical medical practice as well as on research and development. We describe what kinds of inventions are covered by human gene patents, give several examples and summarize the small bo... |
2,336,473 | Cobalt chloride administration in athletes: a new perspective in blood doping? | Blood doping is an illegal and unfair way of enhancing athletic performance by increasing the oxygen carrying capacity of the blood. Currently used methods usually involve stimulation of erythropoiesis. Gene therapy targeting the hypoxia inducible factor pathway may be an attractive alternative to traditional blood dop... |
2,336,474 | Markedly elevated neonatal immunoreactive trypsinogen levels in the absence of cystic fibrosis gene mutations is not an indication for further testing. | To investigate the immunoreactive trypsinogen (IRT) values above the usual 99th centile laboratory cut-off and determine the value of offering further testing to those infants with a markedly elevated IRT but no cystic fibrosis transmembrane regulator (CFTR) gene mutation identified by the screening programme.</Abstrac... |
2,336,475 | An empirical assessment of long-branch attraction artefacts in deep eukaryotic phylogenomics. | In the context of exponential growing molecular databases, it becomes increasingly easy to assemble large multigene data sets for phylogenomic studies. The expected increase of resolution due to the reduction of the sampling (stochastic) error is becoming a reality. However, the impact of systematic biases will also be... |
2,336,476 | Preliminary studies on the effect of moderate physical activity on blood levels of glutathione. | Molecular epidemiological approaches are being used to study how physical activity may protect against cancer. Prior epidemiological data suggest that physical activity protects against lung cancer; however, interpretation of these data is complicated by potential confounding by smoking. Glutathione (GSH) detoxifies ci... |
2,336,477 | Simultaneous detection of isoniazid, rifampin, and ethambutol resistance of Mycobacterium tuberculosis by a single multiplex allele-specific polymerase chain reaction (PCR) assay. | Prompt detection of drug resistance of Mycobacterium tuberculosis is essential for effective control of tuberculosis (TB). We developed a multiplex allele-specific polymerase chain reaction (MAS-PCR) that detects the most commonly observed isoniazid (INH), rifampin (RIF), and ethambutol resistance-associated mutations ... |
2,336,478 | Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant. | Deafness is a heterogeneous disorder showing different pattern of inheritance and involving a multitude of different genes. Mutations in the gene, GJB2 Gap junction type 1), encoding the gap junction protein connexin-26 on chromosome 13q11 may be responsible for up 50% of autosomal recessive nonsyndromic hearing loss c... |
2,336,479 | What influences participation in genetic carrier testing? Results from a discrete choice experiment. | This study explores factors that influence participation in genetic testing programs and the acceptance of multiple tests. Tay Sachs and cystic fibrosis are both genetically determined recessive disorders with differing severity, treatment availability, and prevalence in different population groups. We used a discrete ... |
2,336,480 | Reduced transcriptional activity in individuals with IL-18 gene variants detected from functional but not association study. | Genetic polymorphisms of IL-18 and its receptor were reported to be associated with elevated serum IgE levels, atopy, and/or asthma. However, conflicting results were observed in various association studies and functional activity of these polymorphisms remains unclear. A total of 393 unrelated subjects were involved i... |
2,336,481 | Genetic epidemiology and public health: hope, hype, and future prospects. | Genetic epidemiology is a rapidly expanding research field, but the implications of findings from such studies for individual or population health are unclear. The use of molecular genetic screening currently has some legitimacy in certain monogenic conditions, but no established value with respect to common complex di... |
2,336,482 | Tree disagreement: measuring and testing incongruence in phylogenies. | The branching patterns of phylogenetic trees often disagree even when they have been constructed using different portions of the same data. This phylogenetic discord (incongruence) can be explained by real differences in evolutionary process or history, but also may be due simply to random chance or sampling error. Tec... |
2,336,483 | First case report of X linked dystonia parkinsonism (XDP) or 'lubag' in Australia. | To present the first genetically supported case of X linked dystonia parkinsonism (XDP) or 'lubag' reported in an Australian hospital.</AbstractText>We performed PCR amplification of microsatellite markers in and around the previously described segregating region for the XDP haplotype.</AbstractText>Linkage was confirm... |
2,336,484 | A literature review of the psychological impact of genetic testing on breast cancer patients. | Easier access and increased awareness results in more referral for genetic testing for hereditary breast cancer in healthy at-risk women and breast cancer patients. To investigate the psychological impact of genetic testing on breast cancer patients, literature pertaining to this group was reviewed.</AbstractText>Medli... |
2,336,485 | [Bat lyssavirus in Thailand]. | A study of bat lyssavirus survey was done in Thailand from 2001 to 2003. A total of 932 bats of 11 species were captured in 8 provinces for blood collection and testing for neutralizing antibodies against rabies virus (RABV), Australian bat lyssavirus (ABLV) and broader panel of other lyssaviruses (Irkut, Aravan and Kh... |
2,336,486 | Familial influences on alcohol use in adolescent female twins: testing for genetic and environmental interactions. | Both genetic and common environmental influences contribute to twin associations for substance use; however, twin concordance rates may vary by environmental setting, indicating the presence of genetic-environmental interactions. The present study examined whether measures of family adaptability and cohesion may modera... |
2,336,487 | Haplotype interaction analysis of unlinked regions. | Genetically complex diseases are caused by interacting environmental factors and genes. As a consequence, statistical methods that consider multiple unlinked genomic regions simultaneously are desirable. Such consideration, however, may lead to a vast number of different high-dimensional tests whose appropriate analysi... |
2,336,488 | Spastin mutations in sporadic adult-onset upper motor neuron syndromes. | Mutation of the spastin gene is the single most common cause of pure hereditary spastic paraparesis. In patients with an unexplained sporadic upper motor neuron (UMN) syndrome, clinical distinction between primary lateral sclerosis and sporadic hereditary spastic paraparesis may be problematic. To investigate whether s... |
2,336,489 | Genotype-phenotype analysis in childhood-onset Crohn's disease: NOD2/CARD15 variants consistently predict phenotypic characteristics of severe disease. | The incidence of early-onset CD in Scotland is among the highest worldwide. Three single nucleotide polymorphisms (SNPs) R702W, G908R and Leu1007finsC in the NOD2/CARD15 gene predispose to adult CD. We investigated the contribution of these variants to disease susceptibility and phenotype in the Scottish early-onset IB... |
2,336,490 | Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction. | Deletions of Xq chromosome are reported for a number of familial conditions exhibiting premature ovarian failure (POF) and early menopause (EM).</AbstractText>We describe the inheritance of an interstitial deletion of the long arm of the X chromosome associated with either POF or EM in the same family. Cytogenetic stud... |
2,336,491 | Atopic dermatitis, extrinsic atopic dermatitis and the hygiene hypothesis: results from a cross-sectional study. | Atopic Dermatitis (AD), hayfever and asthma are commonly summarized as atopic diseases. The spatial distribution of AD differs from that of asthma and hayfever, suggesting that AD might follow a different risk pattern than these diseases. AD can be differentiated into an allergic extrinsic form (EAD) and a non-allergic... |
2,336,492 | Transmission of Campylobacter spp. to chickens during transport to slaughter. | To determine the prevalence of Campylobacter-contaminated transport crates and to determine whether contaminated crates represent a risk for contamination of chickens during transport to slaughter.</AbstractText>Samples were collected from cleaned transport crates before they were dispatched to the farms. Chicken group... |
2,336,493 | [Prophylactic surgery of mammary and ovarian carcinoma]. | New insights into the genetic basis of carcinogenesis have been obtained by modern molecular biological techniques. Several susceptibility genes are known. The hereditary breast and ovarian cancer syndrome (germline mutations in BRCA1 and BRCA2) and endometrial cancer in the context of the hereditary non-polyposis colo... |
2,336,494 | Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6. | Hereditary nonpolyposis colon cancer (HNPCC, Online Mendelian Inheritance in Man (OMIM) 114500) is an autosomal dominant disorder that is genetically heterogeneous because of underlying mutations in mismatch repair genes, primarily MLH1, MSH2, and MSH6. One challenge to correctly diagnosing HNPCC is that the large size... |
2,336,495 | A novel multiplexing, polymerase chain reaction-based assay for the analysis of chromosome 18q status in colorectal cancer. | Chromosome 18q allelic loss has been reported to have prognostic significance in stage II colorectal carcinoma. We have developed a fluorescent multiplex polymerase chain reaction assay to analyze five microsatellite markers (D18S55, D18S58, D18S61, D18S64, and D18S69) for allelic loss at the long arm of chromosome 18.... |
2,336,496 | Tumor microsatellite instability in early onset gastric cancer. | Gastric cancer (GC) remains a leading cause of cancer mortality worldwide. Genetic factors are implicated, including DNA mismatch repair (MMR) deficiency manifested as tumor microsatellite instability (MSI). However, a standardized panel of markers and a definition of low-versus-high level MSI in GC are lacking. We exa... |
2,336,497 | Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. | The SCN8A gene on chromosome 12q13 encodes the voltage gated sodium channel Na(v)1.6, which is widely expressed in neurons of the CNS and PNS. Mutations in the mouse ortholog of SCN8A result in ataxia and other movement disorders.</AbstractText>We screened the 26 coding exons of SCN8A in 151 patients with inherited or ... |
2,336,498 | Localization of a mutant p53 response element on the tissue inhibitor of metalloproteinase-3 promoter: mutant p53 activities are distinct from wild-type. | Missense mutations in the p53 gene have been observed in greater than 60% of all human tumors. Recent evidence indicates that some mutations in p53 arise as the cancer progresses from a benign tumor to a metastatic tumor and that these mutations in p53 actively contribute to the process of cancer progression. Previousl... |
2,336,499 | Assessing the power of tag SNPs in the mapping of quantitative trait loci (QTL) with extremal and random samples. | Recent studies have indicated that the human genome could be divided into regions with low haplotype diversity interspersed with regions of high haplotype diversity. In regions of low haplotype diversity, a small fraction of SNPs (tag SNPs) are sufficient to account for most of the haplotype diversity of the human geno... |
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