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2,339,400 | X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility. | The X-linked sex-determining region Y box 3 (SOX3) gene is expressed in the developing gonads and brain. Sox3-null mice developed according to genetic sex, but the hemizygous null males were hypogonadal, with extensive Sertoli cell vacuo-lization, loss of germ cells, and reduced sperm count. We hypothesized that SOX3 m... |
2,339,401 | ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. | Certain autosomal recessive disease conditions are more prevalent in individuals of Eastern European Jewish (Ashkenazi) descent. Previously, the American College of Obstetricians and Gynecologists recommended that individuals of Eastern European Jewish ancestry be offered carrier screening for Tay-Sachs disease, Canava... |
2,339,402 | New molecular targets for treatment of lymphoma. | In recent years, several molecular mechanisms involved in promoting cancer cell survival and growth have been identified. These discoveries helped in designing and testing novel drugs that target specific cellular pathways. In this review, we focus on new molecular targets that are being explored for the treatment of n... |
2,339,403 | Genetic comparison of breeding schemes based on semen importation and local breeding schemes: framework and application to Costa Rica.<Pagination><StartPage>1496</StartPage><EndPage>1505</EndPage><MedlinePgn>1496-505</MedlinePgn></Pagination><Abstract><AbstractText>Local breeding schemes for Holstein cattle of Costa Ri... | Local breeding schemes for Holstein cattle of Costa Rica were compared with the current practice based on continuous semen importation (SI) by deterministic simulation. Comparison was made on the basis of genetic response and correlation between breeding goals. A local breeding goal was defined on the basis of prevaili... |
2,339,404 | CUBIC: identification of regulatory binding sites through data clustering. | Transcription factor binding sites are short fragments in the upstream regions of genes, to which transcription factors bind to regulate the transcription of genes into mRNA. Computational identification of transcription factor binding sites remains an unsolved challenging problem though a great amount of effort has be... |
2,339,405 | Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. | Many sequence variants in predisposition genes are of uncertain clinical significance, and classification of these variants into high- or low-risk categories is an important problem in clinical genetics. Classification of such variants can be performed by direct epidemiological observations, including cosegregation wit... |
2,339,406 | A powerful strategy to account for multiple testing in the context of haplotype analysis. | Haplotypes--that is, linear arrangements of alleles on the same chromosome that were inherited as a unit--are expected to carry important information in the context of association fine mapping of complex diseases. In consideration of a set of tightly linked markers, there is an enormous number of different marker combi... |
2,339,407 | Open-nucleus breeding strategies compared with population-wide positive assortative mating: II. Unequal distribution of testing effort. | This study compares population-wide positive assortative mating (PAM) with open-nucleus breeding with an elite and main population when more effort is allocated to parents of the elite. A companion study showed that PAM is advantageous when testing effort is independent of parental value. In the present study,unbalance... |
2,339,408 | Differential qualitative responses to rivastigmine in APOE epsilon 4 carriers and noncarriers. | This retrospective analysis of two double-blind, placebo-controlled studies in patients with mild to moderately severe AD investigated the efficacy of rivastigmine 6-12 mg/day on cognitive outcomes in patients with or without the apolipoprotein (APOE) epsilon4 allele. APOE data were collected from patients who consente... |
2,339,409 | A novel intronic mutation, 2988G>A, with high predictivity for impaired function of cytochrome P450 2D6 in white subjects. | Individuals with the cytochrome P450 (CYP) 2D6 intermediate metabolizer (IM) phenotype have low residual enzyme activity and compose about 10% to 15% of white populations. Their identification is clinically relevant but remains unsatisfactory because of incomplete characterization of the major allele involved, termed C... |
2,339,410 | Evolutionary ethics: can values change. | The hypothesis that values change and evolve is examined by this paper. The discussion is based on a series of examples where, over a period of a few decades, new ethical issues have arisen and values have changed. From this analysis it is suggested that there are a series of core values around which most people would ... |
2,339,411 | Prenatal smoking and early childhood conduct problems: testing genetic and environmental explanations of the association. | Extensive evidence now supports a statistical association between prenatal smoking and increased risk for antisocial outcomes in offspring. Though this statistical link may signal a causal association, commentators have urged caution in interpreting findings because of the likelihood of confounding.</AbstractText>We us... |
2,339,412 | Polymorphism of estrogen metabolism genes and cataract. | Cataract is the leading cause of visual impairment in older adults in the world. Age-related lens opacities are common and are frequent causes of loss of vision. The incidence of cataract increases significantly with increasing age in women only. The onset coincides with estrogen deficiency that occurs after menopause.... |
2,339,413 | Screening of Y chromosome microdeletion which contains AZF regions in 71 Turkish azoospermic men. | Screening of Y chromosome microdeletion which contains AZF regions in 71 turkish azoospermic men: In 71 Turkish men Y chromosome microdeletions have been studied before intracytoplasmic sperm injection (ICSI). DNA samples were amplified with 18 STS primers of the azoospermia factor (AZF) region on the Y chromosome by u... |
2,339,414 | Genetic and epigenetic screening for gene alterations of the chromatin-remodeling factor, SMARCA4/BRG1, in lung tumors. | The SMARCA4/BRG1 gene product is a component of the SWI-SNF chromatin-remodeling complex and regulates gene expression by disrupting histone-DNA contacts in an ATP-dependent manner. Inactivating mutations of the SMARCA4 gene, on chromosome arm 19p, are present in several human cancer cell lines, including cell lines de... |
2,339,415 | SREBP-1a polymorphism influences the risk of Alzheimer's disease in carriers of the ApoE4 allele. | Sterol regulatory element-binding proteins (SREBPs) are transcription factors involved in cholesterol and fatty acid synthesis. Recently, a polymorphism in the 5'-region of the SREBP-1a gene has been described to be correlated with alterations in the plasma levels of cholesterol. Consequently the relationship between t... |
2,339,416 | Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. | Cryptic subtelomeric chromosome rearrangements account for 6% to 10% of idiopathic mental retardation. As cytogenetic and molecular techniques have become more sophisticated, the number of genetic syndromes attributed to these microdeletions has increased. To date, 64 patients have been described in the literature with... |
2,339,417 | BMPR-II heterozygous mice have mild pulmonary hypertension and an impaired pulmonary vascular remodeling response to prolonged hypoxia. | Heterozygous mutations of the bone morphogenetic protein type II receptor (BMPR-II) gene have been identified in patients with primary pulmonary hypertension. The mechanisms by which these mutations contribute to the pathogenesis of primary pulmonary hypertension are not fully elucidated. To assess the impact of a hete... |
2,339,418 | Physical network models. | We develop a new framework for inferring models of transcriptional regulation. The models, which we call physical network models, are annotated molecular interaction graphs. The attributes in the model correspond to verifiable properties of the underlying biological system such as the existence of protein-protein and p... |
2,339,419 | Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu. | To describe a patient with the Dejerine-Sottas' syndrome due to a de novo Ser72Leu amino acid substitution in the PMP22 protein and summarize the phenotype associated with this frequent mutation.</AbstractText>The proband has a medical history of early onset, severe, and progressive demyelinating neuropathy, accompanie... |
2,339,420 | Inherited forms of renal cell carcinoma. | It is estimated that up to 2% of renal cell cancer (RCC) clusters in families. Several forms of hereditary RCC have been characterized with specific clinical, histopathological, and genetic features. The most common of these is von Hippel-Lindau (VHL) disease caused by mutations in the VHL gene and predisposing to clea... |
2,339,421 | [Exposure and allergy to dust mites in general and working environment in Croatia]. | This paper gives a review of the most important impacts of exposure to dust mites in general and working environment on human health. The Institute for Medical Research and Occupational Health in Zagreb, Croatia, has been investigating the frequency and exposure levels of allergies to pyroglyphid and non-pyroglyphid mi... |
2,339,422 | [Current views on allergic diseases]. | Allergic diseases are an increasing health problem in the industrialised and developed countries especially in children and young adult persons. They are considered diseases of modern civilisation. The reported cumulative prevalence of allergic diseases in childhood of 25-30% includes allergic rhinoconjunctivitis, asth... |
2,339,423 | The presence of hereditary BRCA1 gene mutations in women with familial breast or ovarian cancer and the frequency of occurrence of these tumours in their relatives. | In 48 women with familial breast cancer as well as in 22 women with familial ovarian cancer, the presence of pathogenic mutations in BRCA1 gene were found in 35.4% and 54.6% of patients, respectively. From the patients with mutations we created two groups: the CaM--probands with breast cancer and CaOv--probands with ov... |
2,339,424 | Translating genetics leaflets into languages other than English: lessons from an assessment of Urdu materials. | Genetic counselors frequently counsel clients whose first language is not English, relying on interpreters and on supplementary translated written material. This paper highlights factors that counselors need to consider before using or commissioning translated leaflets. It is based on an assessment of leaflets translat... |
2,339,425 | Exploring the public understanding of basic genetic concepts. | It is predicted that the rapid acquisition of new genetic knowledge and related applications during the next decade will have significant implications for virtually all members of society. Currently, most people get exposed to information about genes and genetics only through stories publicized in the media. We sought ... |
2,339,426 | Patient satisfaction with cancer genetic counseling: a psychometric analysis of the Genetic Counseling Satisfaction Scale. | Satisfaction is an important patient reported outcome of genetic counseling, as it is one of the elements used by professional organizations and healthcare accrediting bodies to determine the quality of professional work. However, empirical research on patient satisfaction with genetic counseling has been limited, part... |
2,339,427 | Enhancing the readability of materials describing genetic risk for breast cancer. | The number of individuals contemplating genetic testing is increasing, but the current materials and overall subject matter remain complex and not easily understood by many. The goal of this project was to evaluate efforts to revise and increase the readability of an existing information packet describing genetic risk ... |
2,339,428 | Cancer genetics knowledge and beliefs and receipt of results in Ashkenazi Jewish individuals receiving counseling for BRCA1/2 mutations. | Genetic counseling for BRCA1 and BRCA2 mutations (mutations associated with increased risk of breast-ovarian cancer) endeavors to communicate information that will help individuals make informed decisions regarding genetic testing.</AbstractText>This repeated-measures study examined cancer genetics knowledge and belief... |
2,339,429 | Adenovirus expressing a bioluminescence reporter gene and cMAGI cell assay for the detection of HIV-1. | We report a fast, highly sensitive method for detecting and testing drug resistance of M-tropic and T-tropic laboratory and primary HIV-1 isolates. cMAGI cells are infected with an adenovirus vector harboring the luciferase reporter gene controlled by HIV-1 Tat-responsive element, TAR. HIV-1 Tat production by HIV-1 chr... |
2,339,430 | Primer design and marker clustering for multiplex SNP-IT primer extension genotyping assay using statistical modeling. | The optimization of the primer design is critical for the development of high-throughput SNP genotyping methods. Recently developed statistical models of the SNP-IT primer extension genotyping reaction allow further improvement of primer quality for the assay.</AbstractText>Here we describe how the statistical models c... |
2,339,431 | The Australian joint inquiry into the Protection of Human Genetic Information. | The Australian Law Reform Commission (ALRC) and the Australian Health Ethics Committee are currently engaged in an inquiry into the Protection of Human Genetic Information. In particular, the Attorney-General and the Minister for Health and Ageing have asked us to focus, in relation to human genetic information and tis... |
2,339,432 | Genome-wide discovery of loci influencing chemotherapy cytotoxicity. | Little is known about the heritability of chemotherapy activity or the identity of genes that may enable the individualization of cancer chemotherapy. Although numerous genes are likely to influence chemotherapy response, current candidate gene-based pharmacogenetics approaches require a priori knowledge and the select... |
2,339,433 | Divergence of conserved non-coding sequences: rate estimates and relative rate tests. | In many eukaryotic genomes only a small fraction of the DNA codes for proteins, but the non-protein coding DNA harbors important genetic elements directing the development and the physiology of the organisms, like promoters, enhancers, insulators, and micro-RNA genes. The molecular evolution of these genetic elements i... |
2,339,434 | Association of vitamin D receptor gene polymorphisms with childhood and adult asthma. | Vitamin D receptor (VDR) polymorphisms have been associated with several immune-related diseases, and VDR and vitamin D itself modulate T cell differentiation. VDR maps to chromosome 12q, near a region commonly linked to asthma. We evaluated VDR as part of a 12q positional candidate survey, and in response to observati... |
2,339,435 | Discovery of induced point mutations in maize genes by TILLING. | Going from a gene sequence to its function in the context of a whole organism requires a strategy for targeting mutations, referred to as reverse genetics. Reverse genetics is highly desirable in the modern genomics era; however, the most powerful methods are generally restricted to a few model organisms. Previously, w... |
2,339,436 | Outcome of five years of accelerated surveillance in patients at high risk for inherited breast/ovarian cancer: report of a phase II trial. | To assess the outcome of accelerated patient surveillance in patients at high risk for inherited breast or ovarian cancer.</AbstractText>Using stringent inclusion criteria, 57 high-risk patients (7 positive for BRCA1/2 mutations, 39 mutation negative, and 11 unaffected) were recruited from a genetic testing protocol fo... |
2,339,437 | [BRCA1 and BRCA2 have reached the clinical medicine. The 10-year old finding of the genetic mutation makes it now possible to prevent breast cancer]. | Increased knowledge of breast cancer genetics has improved the possibilities to predict the future risk of a woman to be diagnosed with breast cancer. In certain families, presymptomatic testing of breast cancer susceptibility genes may be offered, leading to an even more accurate individual risk prediction. As a resul... |
2,339,438 | Social contract theory and just decision making: lessons from genetic testing for the BRCA mutations. | Decisions about funding health services are crucial to controlling costs in health care insurance plans, yet they encounter serious challenges from intellectual property protection--e.g., patents--of health care services. Using Myriad Genetics' commercial genetic susceptibility test for hereditary breast cancer (BRCA t... |
2,339,439 | Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial. | As the availability of and demand for genetic testing for hereditary cancers increases in primary care and other clinical settings, alternative or adjunct educational methods to traditional genetic counseling will be needed.</AbstractText>To compare the effectiveness of a computer-based decision aid with standard genet... |
2,339,440 | Identifying the susceptibility gene(s) in a set of trait-linked genes using genotype data. | There are generally three steps to isolate a disease linkage-susceptibility gene: genome-wide scan, fine mapping, and, last, positional cloning. The last step is time consuming and involves intensive laboratory work. In some cases, fine mapping cannot proceed further on a set of markers because they are tightly linked.... |
2,339,441 | Ethical implications of predictive DNA testing for hereditary breast cancer. | Predictive medicine offers the possibility of detecting many common diseases that have a genetic basis, such as cancer; however, a genetic alteration might only indicate susceptibility to, not certainty of, disease. Whereas means for identifying a greater susceptibility to disease have been developed, effective interve... |
2,339,442 | Genetic medicine: the balance between science and morality. | This article explores the relationship between science and morality with respect to the major changes that genetic knowledge has induced in medicine, as well as in many other spheres of our lives. The following themes are treated: (i) the influence of genetic knowledge on the concepts of normalcy and diversity with res... |
2,339,443 | Awareness of breast cancer genetics and interest in predictive genetic testing: a survey of a southern Italian population. | Before starting a molecular screening program for breast cancer risk and in order to develop ad hoc educational strategies, a population survey in Apulia, Italy, was performed to gather information on women's awareness of breast cancer genetics and their attitude toward genetic testing for breast cancer risk.</Abstract... |
2,339,444 | Intensive radiologic surveillance: a focus on the psychological issues. | Although women who carry BRCA1 or BRCA2 mutations have up to an 85% lifetime risk of breast cancer, the majority choose to forego prophylactic mastectomy, which has been proven to markedly lower breast cancer mortality, and opt for lifelong intensive surveillance. Whether surveillance lowers breast cancer mortality in ... |
2,339,445 | Genetic testing and breast cancer: the women's point of view. | Breast cancer is the most common cancer among women in Western countries (130,000 cases per year in Europe) and accounts for 20-25% of all malignancies in European women. In the past few years medical journals have focused greater attention on the quality and quantity of information provided to consumers; there is a ge... |
2,339,446 | Decisions and outcomes of genetic testing for inherited breast cancer risk. | Since the discovery of breast cancer susceptibility genes and the availability of genetic testing, a substantial amount of research has been conducted to evaluate rates of genetic test acceptance and to understand the psychological and behavioral impact of BRCA1 and BRCA2 (BRCA1/2) genetic test results. This article ex... |
2,339,447 | External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3 years. | The European Molecular Genetics Quality Network (EMQN) was formed in order to improve external quality assessment for molecular genetic testing in Europe. From 1999 to 2002 it received funding from the European Union under the Standards, Measurement and Testing programme (contract no. SMT4-CT98-7515). Since then, its m... |
2,339,448 | Genetic alterations in hereditary breast cancer. | Genetic linkage studies have led to the identification of highly penetrant genes as the possible cause of inherited cancer risk in many cancer-prone families. Most women with a family history of breast/ovarian cancer have tumors characterized by alterations in particular genes, mainly BRCA1 and BRCA2, but also CHK2, AT... |
2,339,449 | Preliminary estimate for the second-trimester maternal serum screening detection rate of the 45,X karyotype using alpha-fetoprotein, unconjugated estriol and human chorionic gonadotropin. | To estimate the detection rate for 45,X pregnancies through second-trimester screening using maternal serum alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol.</AbstractText>Twenty-two cases of 45,X were ascertained through a cytogenetics database and an additional 51 cases were identified through... |
2,339,450 | The changing face of gastroschisis and omphalocele in southeast Georgia. | To document trends in the clinical characteristics of gastroschisis and omphalocele in southeast Georgia, USA, from 1994 to 2002.</AbstractText>All babies with an abdominal wall defect in a 19-county region were referred to one Perinatal Center for genetic counseling, level II ultrasound scans, pregnancy follow-up and ... |
2,339,451 | Ataxia-telangiectasia, an evolving phenotype. | Ataxia-telangiectasia (A-T) is a progressive neurodegenerative disorder, with onset in early childhood and a frequency of approximately 1 in 40,000 births in the United States. A-T is seen among all races and is most prominent among ethnic groups with a high frequency of consanguinity. The syndrome includes: progressiv... |
2,339,452 | Evaluation of DNA intercalation potential of pharmaceuticals and other chemicals by cell-based and three-dimensional computational approaches. | To what extent noncovalent chemical-DNA interactions, in particular weak nonbonded DNA intercalation, contribute to genotoxic responses in mammalian cells has not been fully elucidated. Moreover, with the exception of predominantly flat, multiple-fused-ring structures, our ability to predict intercalation ability of no... |
2,339,453 | Fate of the first polar bodies in mouse oocytes. | Both nuclear transfer and intracytoplasmic sperm injection (ICSI) practice necessitates studies on the spatial relationship between the MII spindle and the first polar bodies (FPB). Although recent observations have shown that the FPB position does not predict accurately the location of the meiotic spindle in metaphase... |
2,339,454 | Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example. | Recently, linkage disequilibrium analyses have been used to detect disease-causing loci based on the common disease-common variant hypothesis. To see what methods can effectively identify the genes, we have to apply them to the practical data obtained from the human population. We extensively performed linkage disequil... |
2,339,455 | Open-nucleus breeding strategies compared with population-wide positive assortative mating: I. Equal distribution of testing efforts. | Positive assortative mating (PAM) can enhance the additive genetic variance in a breeding population(BP). This increases the potential for gains in the production population (PP, selected subset of the BP) for recurrent selection programs in forest trees. The assortment of mates can be either: (1) by individual tree ra... |
2,339,456 | Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. | Among 367 subjects, the authors analyzed 167 patients with essential tremor, sporadic progressive cerebellar ataxia, multiple-system atrophy, and atypical parkinsonism and 200 healthy control subjects for FMR1 premutation alleles. None of the subjects carried alleles within the premutation range. These findings suggest... |
2,339,457 | DPB1 alleles are associated with type 1 diabetes susceptibility in multiple ethnic groups. | Genetic associations between type 1 diabetes and alleles at the HLA class II locus DPB1 have been previously reported. Observed associations could be due to variation in the DPB1 locus itself or to linkage disequilibrium (LD) between DPB1 alleles and other susceptibility loci. One measure of whether the association of ... |
2,339,458 | Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria. | Mutations in the gap junction protein beta 3 (GJB3) gene encoding Connexin 31 (Cx31) are known to cause autosomal inherited sensorineural deafness, erythrokeratodermia and neuropathy. The role of Cx31 mutations has not been described in familial cases of non-syndromic hearing impairment (NSHI) in central European popul... |
2,339,459 | Delayed non-matching to position performance in aged hybrid Fischer 344 x brown Norway rats: a longitudinal study. | In this study, the effects of aging on the performance in a delayed non-matching to position (DNMTP) task were investigated longitudinally in hybrid Fischer 344 x Brown Norway rats. The rats were first trained to perform the task. Subsequently, their performance was assessed monthly from 28 to 34 months of age. The mea... |
2,339,460 | Non-invasive screening of fragile X syndrome A using urine and hair roots. | The diagnosis of fragile X A syndrome (FRAXA) during childhood depends largely on DNA-based diagnostic tests due to the lack of the specific clinical features. To determine a non-invasive screening method for fragile X syndrome, we studied the method of DNA-based diagnosis using urine or hair roots instead of routinely... |
2,339,461 | Analysis of childhood absence epilepsy using haplotype-based haplotype relative risk and transmission disequilibrium test. | The authors performed haplotype-based haplotype relative risk (HHRR) and transmission disequilibrium test (TDT) analysis of childhood absence epilepsy in 30 trios families, using gene typing technology based on microsatellite polymorphic marker. The five microsatellite DNA markers (D8S554, D8S1753, D8S534, D8S1100, D8S... |
2,339,462 | Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands. | Autism, a childhood neuropsychiatric disorder with a strong genetic component, is currently the focus of considerable attention within the field of human genetics as well many other medical-related disciplines. A recent study has implicated two X-chromosomal neuroligin genes, NLGN3 and NLGN4, as having an etiological r... |
2,339,463 | Lack of association between 5HT2A receptor gene haplotype, bipolar disorder and its clinical subtypes in a West European sample. | Bipolar affective disorder (BPAD) is a complex psychiatric disorder with a major genetic contribution. Abnormalities in serotonergic function have been implicated in its aetiology. The 5HT2A receptor (5HT2AR) gene is a strong candidate gene for involvement in BPAD, but previous association studies have reported conflic... |
2,339,464 | Assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenic patients. | A hemizygous deletion of the q11 band on chromosome 22 occurs in 1 of every 5,950 live births (0.017%). The deletion is mediated by low copy repeats (LCRs) flanking this locus. Presence of the deletion is associated with variable phenotypic expression, which can include distinctive facial dysmorphologies, congenital he... |
2,339,465 | Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a Chinese population. | Haploinsufficiency for or mutation in at least one gene from the velocardiofacial syndrome (VCFS) region at chromosome 22q11 is implicated in psychosis. Linkage disequilibrium mapping of the region in patients identified a segment containing two genes, proline dehydrogenase (PRODH) and DGCR6, as candidates [Liu et al.,... |
2,339,466 | [Integrated population genetic and medical genetic study of two raions of the Tver oblast]. | An integrated medical genetic an population genetic study has been performed in two raions (administrative districts) of the Tver oblast (region) of Russia: the Udomlya raion located in the zone affected by the Kalininskaya Nuclear Power Plant and the Ostashkov raion, which served as a control district. No significant ... |
2,339,467 | The future of association studies: gene-based analysis and replication. | Historically, association tests were limited to single variants, so that the allele was considered the basic unit for association testing. As marker density increases and indirect approaches are used to assess association through linkage disequilibrium, association is now frequently considered at the haplotypic level. ... |
2,339,468 | Gastrointestinal polyps and polyp syndromes in adolescents. | Although gastrointestinal polyps are more common in the first decade of life than during adolescence, underlying genetic polyposis syndromes are more likely in adolescents. In the past decade, the discovery of gene defects associated with polyposis syndromes has improved classification of these disorders, assisted in t... |
2,339,469 | Amelogenesis imperfecta in a new animal model--a mutation in chromosome 5 (human 4q21). | Candidate genes for amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are located on 4q21 in humans. We tested our hypothesis that mutations in the portion of mouse chromosome 5 corresponding to human chromosome 4q21 would cause enamel and dentin abnormalities. Male C3H mice were injected with ethylnitros... |
2,339,470 | Effects of the Enterococcus faecalis hypR gene encoding a new transcriptional regulator on oxidative stress response and intracellular survival within macrophages. | In order to identify regulators of the oxidative stress response in Enterococcus faecalis, an important human pathogen, several genes annotated as coding for transcriptional regulators were inactivated by insertional mutagenesis. One mutant, affected in the ef2958 locus (designated hypR [hydrogen peroxide regulator]), ... |
2,339,471 | C-reactive protein genotypes affect baseline, but not exercise training-induced changes, in C-reactive protein levels. | The goal of this study is to determine whether C-reactive protein (CRP) gene variants affect baseline and training-induced changes in plasma CRP levels.</AbstractText>Sixty-three sedentary men and women aged 50 to 75 years old underwent baseline testing (Vomax, body composition, CRP levels). They repeated these tests a... |
2,339,472 | Testing for microevolution in body size in three blue tit populations. | Quantifying the genetic variation and selection acting on phenotypes is a prerequisite for understanding microevolutionary processes. Surprisingly, long-term comparisons across conspecific populations exposed to different environments are still lacking, hampering evolutionary studies of population differentiation in na... |
2,339,473 | Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene. | Knockout mice lacking both copies of the hepatocyte nuclear factor 1 (HNF1) gene have altered serum levels of amino acids and generalized aminoaciduria. The aim of our study was to test whether alterations in serum amino acid levels were found in patients with mutations in the hepatocyte nuclear factor-1 alpha (HNF-1al... |
2,339,474 | Informed consent when taking genetic decisions. | Developments in genetics with diagnostic, pre-symptomatic and predictive testing involve significant changes in the decision-making process, because of the complexity of genetic information and the difficulty related to understanding the causes and mechanism of genetic diseases, ethical, psychological and social implic... |
2,339,475 | Clonal lymphocytes in persons without known chronic lymphocytic leukemia (CLL): implications of recent findings in family members of CLL patients. | Several genetic abnormalities have been characterized in chronic lymphocytic leukemia (CLL) but these are predominantly secondary events and the initiating phenomena in the etiology of the disease are yet to be established. Studies of inherited susceptibility have identified the early oncogenic events in both familial ... |
2,339,476 | Adenovirus hexon T-cell epitope is recognized by most adults and is restricted by HLA DP4, the most common class II allele. | The immunogenicity of adenovirus (Ad) vectors is enhanced by virus-specific memory immune responses present in most individuals as a result of past exposure to these ubiquitous pathogens. We previously identified the first human T-cell epitope from the major capsid protein hexon, H910-924, and found that it is highly c... |
2,339,477 | Hsp90: an emerging target for breast cancer therapy. | Rapidly evolving insights into the specific molecular genetic abnormalities that drive the growth and metastasis of breast cancer have led to the development of targeted therapeutics that do not rely on the generalized disruption of DNA metabolism and cell division for activity. Of particular interest are inhibitors of... |
2,339,478 | Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene. | Genotyping of genetic polymorphisms is widely used in clinical molecular laboratories to confirm or predict diseases due to single locus mutations. In contrast, very few molecular methods determine the phase or haplotype of two or more mutations that are kilobases apart. In this report, we describe a new method for hap... |
2,339,479 | Test of linkage and/or association between the estrogen receptor alpha gene with bone mineral density in Caucasian nuclear families. | Extensive studies have been performed on the association between the estrogen receptor alpha (ER-alpha) gene and bone mineral density (BMD). Despite considerable efforts, the studies using limited markers and relatively small sample size have yielded largely inconsistent results. In this study, 1873 Caucasian subjects ... |
2,339,480 | Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency. | We report a family in which the normal pattern of X-linked inheritance of hemophilia B (Factor IX deficiency) is complicated by mosaicism in the proband's maternal grandfather. The proband, an infant with severe Factor IX deficiency, was initially thought to be a sporadic case. Testing of other family members identifie... |
2,339,481 | Efficient computation of significance levels for multiple associations in large studies of correlated data, including genomewide association studies. | Large exploratory studies, including candidate-gene-association testing, genomewide linkage-disequilibrium scans, and array-expression experiments, are becoming increasingly common. A serious problem for such studies is that statistical power is compromised by the need to control the false-positive rate for a large fam... |
2,339,482 | Testing small clutch size models with Daphnia. | Life-history theory predicts that for small clutches, variance in egg size (between individuals) should decrease in a predictable invariant manner as clutch size increases. To test this, we studied Daphnia magna at 350 different food treatments and recorded the number of eggs and the volume of each egg for their first ... |
2,339,483 | Parallel evolution and inheritance of quantitative traits. | Parallel phenotypic evolution, the independent evolution of the same trait in closely related lineages, is interesting because it tells us about the contribution of natural selection to phenotypic evolution. Haldane and others have proposed that parallel evolution also results from a second process, the similarly biase... |
2,339,484 | Multimedia messages in genetics: design, development, and evaluation of a computer-based instructional resource for secondary school students in a Tay Sachs disease carrier screening program. | Tay Sachs disease is a recessively inherited neurodegenerative disorder, for which carrier screening programs exist worldwide. Education for those offered a screening test is essential in facilitating informed decision-making. In Melbourne, Australia, we have designed, developed, and evaluated a computer-based instruct... |
2,339,485 | Genetic information leaflets: influencing attitudes towards genetic testing. | This article explores how a "neutral" genetics information leaflet influenced people's attitudes to be more positive toward predictive genetic testing. This is of concern, given the desire within clinical genetics and population based testing to provide information that informs choice without directing toward, or again... |
2,339,486 | Genetic testing for alpha1-antitrypsin deficiency. | The Alpha Coded Testing Study investigated the risks, benefits, and psychological impact of home genetic testing for alpha1-antitrypsin deficiency.</AbstractText>In the study, 996 adult individuals requested and returned a home-administered, confidential, fingerstick blood test.</AbstractText>Individuals highly rated t... |
2,339,487 | Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial. | Alzheimer's disease, for which one form of the apolipoprotein E (APOE) genotype is a risk factor, provides a paradigm in which to examine response to susceptibility testing for common, complex diseases. This study's main purposes were to estimate interest in such testing and to examine demographic predictors of study p... |
2,339,488 | Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians. | Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a relatively common, underdiagnosed autosomal-dominant disorder of arteriovenous malformations and telangiectases. DNA testing for hereditary hemorrhagic telangiectasia has recently become available in North America, making presymptomatic screening a... |
2,339,489 | Oncogenes and tumor suppressor genes in breast cancer: potential diagnostic and therapeutic applications. | Carcinogenesis is a multistep process characterized by genetic alterations that influence key cellular pathways involved in growth and development. Oncogenes refer to those genes whose alterations cause gain-of-function effects, while tumor suppressor genes cause loss-of-function effects that contribute to the malignan... |
2,339,490 | Hereditary pancreatitis in a family of Aboriginal descent. | Hereditary pancreatitis is an autosomal dominant condition characterized by recurrent episodes of acute pancreatitis, usually starting in childhood. We present a family who was ascertained when an 11-year-old girl presented with an episode of acute pancreatitis. Her father and other family members had also had recurren... |
2,339,491 | Genetic diversity in German draught horse breeds compared with a group of primitive, riding and wild horses by means of microsatellite DNA markers. | We compared the genetic diversity and distance among six German draught horse breeds to wild (Przewalski's Horse), primitive (Icelandic Horse, Sorraia Horse, Exmoor Pony) or riding horse breeds (Hanoverian Warmblood, Arabian) by means of genotypic information from 30 microsatellite loci. The draught horse breeds includ... |
2,339,492 | Down syndrome with an unusual etiology: case report and review. | To present the genetic etiology of an unusual case of Down syndrome, arising from translocation of chromosome 21 to chromosome 9; to discuss advanced genetic diagnostic techniques, focusing on how pinpointing a specific genetic mistake can influence treatment and outcome; and to review the role of the nurse practitione... |
2,339,493 | [Cancer genetic counseling as it pertains to gynaecologic oncology: general considerations in hereditary tumors]. | One of the most remarkable discoveries during the last two decades is that cancer is a genetic disease, which develops in a stepwise fashion including many gene mutations. The nature of hereditary tumours has also been elucidated, with recognised inherited germline gene mutations predisposing cancer development. These ... |
2,339,494 | Pharmacogenomics in breast cancer: current trends and future directions. | Pharmacogenomics is the study of genetic variations between individuals to predict the risk of toxic side effects and the probability that a patient will respond to single- or multidrug chemotherapy. Breast cancer remains one of the most common cancers among women worldwide and is second only to lung cancer in cancer-r... |
2,339,495 | Survey of colorectal cancer screening practices in a large Canadian urban centre. | Colorectal carcinoma (CRC) is an ideal tumour for population-based screening policies. Screening guidelines are based on differing levels of evidence and opinion. The objective of this study was to determine current CRC screening practices in Alberta.</AbstractText>A questionnaire was mailed to all family physicians, g... |
2,339,496 | Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. | To re-examine the potential clinical indications for subtelomeric FISH testing and to provide additional cases to the growing literature on subtelomeric abnormalities and their genotype-phenotype correlations, we present a single center case series of 13 patients with chromosomal abnormalities detected by subtelomeric ... |
2,339,497 | Breast cancer genetics: unsolved questions and open perspectives in an expanding clinical practice. | Breast cancer is the most common cause of cancer death in the United Kingdom, with a lifetime risk of one in nine in women. Only 5-10% of all cancers is thought to be due to strongly penetrant inherited predisposing genes, such as BRCA1 and BRCA2. However, other less penetrant genes, including some autosomal recessive ... |
2,339,498 | Adult height distribution in subjects born small for gestational age. | The aim of the study was to investigate the post-natal growth of subjects born small for gestational age (SGA) by describing adult height distribution and by testing the effects of parental, neonatal and pregnancy-related parameters on the risk for adult short stature. The study population was made of adults selected o... |
2,339,499 | Reconstructing phylogeny by quadratically approximated maximum likelihood. | Maximum likelihood (ML) for phylogenetic inference from sequence data remains a method of choice, but has computational limitations. In particular, it cannot be applied for a global search through all potential trees when the number of taxa is large, and hence a heuristic restriction in the search space is required. In... |
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