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2,338,400 | Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implications. | Mutations in BRCA1 or BRCA2 genes increase breast cancer risk. Assuring reliability of information about these mutations is increasingly important to the health care community; mutation testing is becoming more widespread. We describe a methodology for assessing such information.</AbstractText>Our approach integrates f... |
2,338,401 | Telegenetics in Maine: Successful clinical and educational service delivery model developed from a 3-year pilot project. | The goal of this 3-year pilot project was to increase accessibility to genetics educational and clinical services in Maine.</AbstractText>Southern Maine Genetics Services, Foundation for Blood Research in collaboration with Maine Telemedicine Services established telemedicine capacity to link with rural health care cen... |
2,338,402 | Obstacles and opportunities in meta-analysis of genetic association studies. | Genetic association studies have the potential to advance our understanding of genotype-phenotype relationships, especially for common, complex diseases where other approaches, such as linkage, are less powerful. Unfortunately, many reported studies are not replicated or corroborated. This lack of reproducibility has m... |
2,338,403 | MLH1 and MSH2 promote the symmetry of double-strand break repair events at the HIS4 hotspot in Saccharomyces cerevisiae. | Double-strand breaks (DSBs) initiate meiotic recombination. The DSB repair model predicts that both genetic markers spanning the DSB should be included in heteroduplex DNA and be detectable as non-Mendelian segregations (NMS). In experiments testing this, a significant fraction of events do not conform to this predicti... |
2,338,404 | A model for the Neurospora circadian clock. | Circadian clocks are important biological oscillators that generally involve two feedback loops. Here, we propose a new model for the Neurospora crassa circadian clock. First, we model its main negative feedback loop, including only experimentally well-documented reactions, the transcriptional activation of frequency (... |
2,338,405 | A family-based study of the association between the G72/G30 genes and schizophrenia in the Chinese population. | Studies have shown a strong positive association between schizophrenia and G72/G30, demonstrated by both individual markers and haplotypes. A further functional study also supports the role of G72 in the etiology of schizophrenia. In this study, we have replicated these results of transmission/disequilibrium testing (T... |
2,338,406 | Prodromal interventions for schizophrenia vulnerability: the risks of being "at risk". | Given the morbidity and difficulty of treating psychotic disorders, including schizophrenia, there has been a move toward identifying and treating adolescents and young adults who appear to be clinically at risk or "prodromal" to psychosis. The field now has greater specificity in identification, with rates of 40-50% c... |
2,338,407 | Development and validation of a Breast Cancer Genetic Counseling Knowledge Questionnaire. | Women who undergo genetic counseling concerning their increased risk of developing breast cancer confront large quantities of complex information in a short period of time. Clinical reports have suggested that many women may not retain what they learned during counseling. A validated questionnaire to measure their know... |
2,338,408 | Differential behavioral responses to nicotine in Lewis and Fischer-344 rats. | Individual and strain variability in the effects of nicotine suggests the involvement of a genetic component in nicotinic cholinergic receptor (nAChR) function, which may help explain nicotine's variable behavioral and pharmacological effects in different individuals. The present study evaluated differential responses ... |
2,338,409 | Protocatechuate 4,5-dioxygenase from Comamonas testosteroni T-2: biochemical and molecular properties of a new subgroup within class III of extradiol dioxygenases. | Comamonas testosteroni T-2 degraded at least eight aromatic compounds via protocatechuate (PCA), whose extradiol ring cleavage to 2-hydroxy-4-carboxymuconate semialdehyde (HCMS) was catalysed by PCA 4,5-dioxygenase (PmdAB). This inducible, heteromultimeric enzyme was purified. It contained two subunits, alpha (PmdA) an... |
2,338,410 | Application of RAPD and SCAR markers for purity testing of F1 hybrid seed in chili pepper (Capsicum annuum). | A simpler and better method for purity testing of hybrid pepper seed was developed. The simplest method for extracting genomic DNA, the NaOH method, was chosen. Two RAPD markers identifying male and female parents were also developed, and the PCR products of male- and female-specific RAPD markers were cloned and sequen... |
2,338,411 | ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease. | Recent epidemiological, biological and genetic data indicate a relationship between cholesterol and Alzheimer's disease (AD) including the association of polymorphisms of ABCA1 (a gene that is known to participate in cholesterol and phospholipid transport) with AD prevalence. Based on these data, we postulated that gen... |
2,338,412 | Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation. | Huntington's disease (HD) is an inherited neurodegenerative disorder triggered by an expanded polyglutamine tract in huntingtin that is thought to confer a new conformational property on this large protein. The propensity of small amino-terminal fragments with mutant, but not wild-type, glutamine tracts to self-aggrega... |
2,338,413 | Atopy, asthma, and experimental approaches based on the linear model of T cell maturation. | The linear model of maturation of IFN-gamma-producing cells from a proliferative pool of type 2 cytokine-producing T cells represents a fundamental shift in interpreting how changes in cytokine production by T cell populations are regulated. A major tenet of this model is antigen-independent, bystander proliferation of... |
2,338,414 | The problems with risk selection; scientific and psychosocial aspects. | Between 9,000 and 18,000 new cases of breast cancer per year in the United States are associated with a genetically defined predisposition. Mutations in BRCA1 and 2 account for greater than 60% of inherited breast cancer. Mutations in additional undiscovered high and low penetrance genes may account for the other 40% o... |
2,338,415 | Can animal models help us select specific compounds for cancer prevention trials? | Animal models provide unparalleled mechanistic insights into cancer development and potential opportunity for cancer prevention. Nevertheless, species differ markedly with regard to dietary exposures, cancer development, drug effects, and toxicity thresholds; therefore, testing in a single animal system may not predict... |
2,338,416 | Genetics and prevention of oesophageal adenocarcinoma. | Gastric cancer has been declining for more than half a century, whereas the incidence of oesophageal cancer is increasing rapidly. The histopathological subtype is also changing with a predominance of oesophageal adenocarcinoma compared with squamous carcinoma. The reasons for these epidemiological changes are not clea... |
2,338,417 | Application of genetics to the prevention of colorectal cancer. | A first-degree relative of an individual with colorectal cancer is on average at about a twofold increased risk. This could not occur without there being strong underlying risk factors that are correlated in relatives. About 90% of colorectal cases occur in people who are above median familial/genetic risk, so there is... |
2,338,418 | Lifestyle and medical approaches to cancer prevention. | Cancer risk can be reduced by adopting a healthy lifestyle and by medical means. Tobacco control is central to public policies for cancer prevention. Overweight and obesity in the United States may contribute to 20% of cancer deaths in women and 14% in men. Cancer prevention strategies have progressed from a predominan... |
2,338,419 | [Differential diagnosis of a polyhydramnion in hyperprostaglandin E syndrome: a case report]. | A polyhydramnion is diagnosed in 0.4 to 3.3 % of all pregnancies. The most common causes of increased amniotic fluid include maternal diabetes mellitus, fetal malformations and chromosomal aberrations, twin-to-twin transfusion syndrome, rhesus incompatibility syndrome, and congenital infections. After exclusion of othe... |
2,338,420 | Liver-specific expression of interferon gamma following adenoviral gene transfer controls hepatitis B virus replication in mice. | Interferons control viral replication and the growth of some malignant tumors. Since systemic application may cause severe adverse effects, tissue-specific expression is an attractive alternative. Liver-directed interferon gene therapy offers promising applications such as chronic viral hepatitis B or C or hepatocellul... |
2,338,421 | Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. | Autism is a neurobehavioral spectrum of phenotypes characterized by deficits in the development of language and social relationships and patterns of repetitive, rigid and compulsive behaviors. Twin and family studies point to a significant genetic etiology, and several groups have performed genomic linkage screens to i... |
2,338,422 | A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3. | Dissecting complex diseases in underlying distinct traits and studying these for their genetic basis might enhance the power as well as the specificity, of detection of disease genes. These phenotypes are known as intermediate phenotypes.</AbstractText>We were interested in the atopic basis of asthma, and used the sens... |
2,338,423 | Clinical description and mode of inheritance of idiopathic epilepsy in English springer spaniels. | To determine clinical characteristics and mode of inheritance of idiopathic epilepsy (IE) in English Springer Spaniels.</AbstractText>Original study.</AbstractText>45 dogs with IE and 74 siblings and their respective parents.</AbstractText>IE was diagnosed on the basis of age at the time of seizure onset and results of... |
2,338,424 | [Corneal transplantation--immunological mechanisms of rejection episode]. | Organ transplantation including cornea is often only the one method of treatment in case of their irreversible destruction. The genetic difference between donor and graft recipient makes the immunological system recognizes foreign antigens and triggers off a rejection episode. This article reviews corneal graft rejecti... |
2,338,425 | Beta-thalassaemia carrier detection by ELISA: a simple screening strategy for developing countries. | The frequency of beta-thalassaemia in India ranges from 3.5% to 15% in the general population and of the 100,000 children born with thalassaemia major in the world, 10,000 are in India alone. Affected children do not die immediately, but treatment by regular transfusion is costly and leads to iron overload and death. T... |
2,338,426 | Rapid simulation of P values for product methods and multiple-testing adjustment in association studies. | A major aim of association studies is the identification of polymorphisms (usually SNPs) associated with a trait. Tests of association may be based on individual SNPs or on sets of neighboring SNPs, by use of (for example) a product P value method or Hotelling's T test. Linkage disequilibrium, the nonindependence of SN... |
2,338,427 | Ferritinopathy: diagnosis by muscle or nerve biopsy, with a note on other nuclear inclusion body diseases. | Ferritinopathy (neuroferritinopathy) has recently been identified as an autosomal dominant, multisystem disease, mainly affecting the central nervous system. It is caused by mutations in exon 4 of the ferritin light chain gene on chromosome 19. Its fine structural hallmarks are granular nuclear inclusions in neurons, o... |
2,338,428 | Extremely high interleukin-6 blood levels and outcome in the critically ill are associated with tumor necrosis factor- and interleukin-1-related gene polymorphisms. | To determine the allelic frequencies of interleukin (IL)-6-, IL-1-, and tumor necrosis factor-alpha (TNF)-related gene polymorphisms in critically ill patients with extremely high IL-6 blood level and to examine the genetic effects on their clinical courses.</AbstractText>Population-based association study.</AbstractTe... |
2,338,429 | A functional single-nucleotide polymorphism of the G-CSF receptor gene predisposes individuals to high-risk myelodysplastic syndrome. | The granulocyte colony-stimulating factor receptor (G-CSF-R) transmits signals for proliferation and differentiation of myeloid progenitor cells. Here we report on the identification of a rare single nucleotide polymorphism within its intracellular domain (G-CSF-R_Glu785Lys). Screening a cohort of 116 patients with pri... |
2,338,430 | Invasive genetic diagnosis in multiple pregnancies. | Chromosomal anomalies and mendelian diseases are more frequent in multiple gestations than in singletons. Prenatal diagnosis is recommended in multiple pregnancies whenever indicated. Invasive testing using amniocentesis or chorionic villus sampling can be performed safely. Chorionic villus sampling has a significant a... |
2,338,431 | Rational approach to genetic testing of cystic fibrosis (CF) in infertile men. | Male infertility as a result of isolated congenital bilateral absence of the vas deferens (CBAVD) is one primary genital form of cystic fibrosis (CF) and occurs in 1-2% of infertile men. Assisted fertilization in patients with CBAVD increases the risk of transmitting mutations in the CF gene. We developed a rational ap... |
2,338,432 | Accounting for coalescent stochasticity in testing phylogeographical hypotheses: modelling Pleistocene population structure in the Idaho giant salamander Dicamptodon aterrimus. | Several theoretical studies have demonstrated the importance of accounting for coalescent stochasticity in phylogeographical studies, however, there are few empirical examples that do so in the context of explicit hypothesis testing. Here, we provide an example from the Idaho giant salamander (Dicamptodon aterrimus) us... |
2,338,433 | Genetic variability in natural populations of Arabidopsis thaliana in northern Europe. | Ten populations of the model plant Arabidopsis thaliana were collected along a north-south gradient in Norway and screened for microsatellite polymorphisms in 25 loci and variability in quantitative traits. Overall, the average levels of genetic diversity were found to be relatively high in these populations, compared ... |
2,338,434 | Characterization of genotype-phenotype relationships and stratification by the CARD15 variant genotype for inflammatory bowel disease susceptibility loci using multiple short tandem repeat genetic markers. | The classification of ulcerative colitis (UC), Crohn disease (CD), and indeterminate colitis (IC) as forms of inflammatory bowel disease (IBD) is based on clinical, radiological, and histological criteria. The genetic basis of IBD is well founded, and susceptibility loci have been identified on several different chromo... |
2,338,435 | Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. | Fanconi anemia (FA) is an autosomal recessive disorder that is defined by cellular hypersensitivity to DNA cross-linking agents, and is characterized clinically by developmental abnormalities, progressive bone-marrow failure, and predisposition to leukemia and solid tumors. There is extensive genetic heterogeneity, wit... |
2,338,436 | Alphavirus replicon particles containing the gene for HER2/neu inhibit breast cancer growth and tumorigenesis. | Overexpression of the HER2/neu gene in breast cancer is associated with an increased incidence of metastatic disease and with a poor prognosis. Although passive immunotherapy with the humanized monoclonal antibody trastuzumab (Herceptin) has shown some effect, a vaccine capable of inducing T-cell and humoral immunity c... |
2,338,437 | Rare variant of apolipoprotein E (Arg136 -->Ser) in two normolipidemic individuals. | Through the analysis of the common apolipoprotein (apo) E gene polymorphism in large Caucasian population study with the PCR and subsequent restriction analysis, we have identified carriers of mutant allele Arg136-->Ser. Both of them (71-years-old female and her 43-years-old son) have normal lipid parameters. We sug... |
2,338,438 | Under the skin: On the impartial treatment of genetic and environmental hypotheses of racial differences. | Environmental and genetic explanations have been given for Black-White racial differences in intelligence and other traits. In science, viable, alternative hypotheses are ideally given equal Bayesian prior weights; but this has not been true in the study of racial differences. This article advocates testing environment... |
2,338,439 | CD3 delta immunodeficiency. | The review describes advances in understanding the role of the CD3 delta subunit in human T-cell development as deduced from a recently described human immunodeficiency. The review also compares CD3 delta deficiency with other human CD3 subunit deficiencies and with corresponding animal models.</AbstractText>In describ... |
2,338,440 | [The application of transgenic plant in evaluating the genotoxicity of environmental contaminants]. | Environmental contaminants are powerful mutagenic factors for organisms. Several testing materials and methods have been used to assess the genotoxicity of environmental factors. Transgenic plants testing system can not only evaluate the level of genotoxicity, but also provide information on the genetic effects at mole... |
2,338,441 | [Research progress of methods of SSR primers development]. | SSRs is one of molecular markers technology based on DNA length polymorphism and an efficient tool for population genetic studies and primary genetic linkage maps construction. Because of a special primer marker, It's necessary to know a species DNA sequence in order to design primers for PCR testing. That is to say, t... |
2,338,442 | [Genetic polymorphism of 4 microsatellites DNA in 3 goat populations and relationship with heterosis]. | Gene frequency, polymorphism information contents, number of effective alleles, heterozygosity and genetic distances were studied in Boer goat, Taihang goat and Hebei dairy goat using four microsatellite markers (OarFCB11, OarAE101, McM218, McM38). The crossing effects on Hebei dairy goat and Taihang goat with Boer goa... |
2,338,443 | [Genetic polymorphisms of 6 Y-chromosome specific STR loci in the southern Chinese Han population and its application in forensic science]. | To study the genetic polymorphisms of six Y-chromosome specific STR loci in the southern Chinese Han population and apply it in forensic science, six Y-STR loci were amplified by multiple PCR and the PCR products were detected by using ABI Prism 377 Sequencer. The haplotype frequencies at 6 Y-STR loci were determined i... |
2,338,444 | Selection of twenty-four highly informative SNP markers for human identification and paternity analysis in Koreans. | A number of DNA marker types suitable for human identification and parentage testing have been developed, of which single nucleotide polymorphisms (SNPs) merit attention as they are abundant, genetically stable, and amenable to high-throughput automated analysis. In this regard, 24 highly informative SNP markers repres... |
2,338,445 | Paternity analysis in special fatherless cases without direct testing of alleged father. | The ability to establish the biological father, in which the father of a person is not available, named "reverse paternity determination", is based on the determination of STR alleles in mother and her child, other children and brothers of the alleged father, and deduction of genetic constitution of the father by the b... |
2,338,446 | Genetic study of 11 Y-STRs in the populations of Reggio Calabria, Catanzaro, Cosenza (Calabria--South of Italy). | The ability to identify male-specific DNA renders Y-chromosomal STR systems an invaluable help in cases of rape, other sexual assault as well as in kinship testing. The "PowerPlex Y System" is a recent kit by Promega, that co-amplifies the repeat regions of 11 Y-STRs loci. In the present study, we analyzed the allelic ... |
2,338,447 | Increased T2 signal in the middle cerebellar peduncles on MRI is not specific for fragile X premutation syndrome. | The fragile X premutation tremor/ataxia syndrome (FXTAS) is a recently described adult-onset neurodegenerative disorder, in which ataxia, tremor, cognitive decline, parkinsonism, neuropathy and autonomic dysfunction occur in various combinations. It is reported to display a characteristic MRI appearance, with increased... |
2,338,448 | Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. | In this report we describe the first two US patients with congenital disorder of glycosylation type Ig (CDG-Ig). Both patients presented with symptoms indicating CDG, including developmental delay, hypotonia and failure to thrive, and tested positive for deficient glycosylation of transferrin. Labeling of the patients'... |
2,338,449 | Family-based association study of the 5-HT transporter gene and schizophrenia. | The gene coding for the 5-HT transporter (5-HTT) is considered as a candidate gene for schizophrenia, because this transporter plays a key role in serotonin neurotransmission. Previous genetic studies focusing on this gene yielded conflicting results, presumably because of stratification biases linked to the case-contr... |
2,338,450 | Let them fly or light them up: matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectrometry and fluorescence in situ hybridization (FISH). | This review focuses on clinical bacteriology and by and large does not cover the detection of fungi, viruses or parasites. It discusses two completely different but complementary approaches that may either supplement or replace classic culture-based bacteriology. The latter view may appear provocative in the light of t... |
2,338,451 | Application of molecular genetic methods in macrolide, lincosamide and streptogramin resistance diagnostics and in detection of drug-resistant Mycobacterium tuberculosis. | Antimicrobial susceptibility testing has traditionally been based on measurements of minimal inhibitory concentrations of antimicrobials. Molecular genetic studies on antimicrobial resistance have produced a great deal of genetic information which can be used for diagnosis of antimicrobial resistance determinants. Bact... |
2,338,452 | Genetic methods for detection of antimicrobial resistance. | Accurate and rapid diagnostic methods are needed to guide antimicrobial therapy and infection control interventions. Advances in real-time PCR have provided a user-friendly, rapid and reproducible testing platform catalysing an increased use of genetic assays as part of a wider strategy to minimize the development and ... |
2,338,453 | Molecular genetic methods for diagnosis and characterisation of Chlamydia trachomatis and Neisseria gonorrhoeae: impact on epidemiological surveillance and interventions. | One of the mainstays in the prevention of Chlamydia trachomatis and Neisseria gonorrhoeae infections is the availability of laboratory diagnostics with high sensitivity and specificity. Assays for diagnosis of C. trachomatis include cell culture and nucleic acid amplification tests (NAATs). The major target sequences f... |
2,338,454 | Molecular genetic methods in the diagnosis of lower respiratory tract infections. | Molecular diagnostic techniques, such as PCR, have become useful tools for the rapid etiological diagnosis of lower respiratory tract infections. Nucleic acid amplification tests (NAATs) have been evaluated for detecting most respiratory pathogens, and commercial assays are available for some pathogens. However, standa... |
2,338,455 | Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration. | Beta thalassemia is an autosomal recessive disorder characterized by reduced (beta(+)) or absent (beta(0)) beta-globin chain synthesis. In Lebanon it is the most predominant genetic defect. In this study we investigated the religious and geographic distribution of the beta-thalassemia mutations identified in Lebanon, a... |
2,338,456 | Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population. | We screened the whole coding region of the cystic fibrosis transmembrane regulator (CFTR) gene in 371 unrelated cystic fibrosis (CF) patients from three regions of southern Italy. Forty-three mutations detected 91.5% of CF mutated chromosomes by denaturing gradient gel electrophoresis analysis, and three intragenic CFT... |
2,338,457 | [Results from 10 years of preimplantation-genetic diagnostics in The Netherlands]. | To report the data from couples who were referred for preimplantation-genetic diagnostics (PGD) and treatment due to a significantly increased risk of offspring with a serious genetic disorder.</AbstractText>Descriptive, prospective.</AbstractText>Data were collected from couples that underwent PGD in the period 1993/'... |
2,338,458 | [Preimplantation genetic screening for numerical chromosomal abnormalities in embryos from women of 35 years of age and older; first results in The Netherlands]. | To assess the results of preimplantation genetic screening (PGS) for numerical chromosomal abnormalities in embryos from women of 35 years of age and older.</AbstractText>Prospective, descriptive.</AbstractText>Women who were at least 35 years received standard IVF/ICSI treatment including ovarian hyperstimulation, aft... |
2,338,459 | Follistatin-related protein gene (FRP) is expressed in the synovial tissues of rheumatoid arthritis, but its polymorphisms are not associated with genetic susceptibility. | To examine the expression level and function of follistatin-related protein gene (FRP, also referred to as FSTL1) in rheumatoid arthritis (RA), and possible association of its polymorphisms with genetic susceptibility to RA.</AbstractText>FRP mRNA expression levels in the synovial tissues from 10 patients with RA and 5... |
2,338,460 | Changing demographics of advanced maternal age (AMA) and the impact on the predicted incidence of Down syndrome in the United States: Implications for prenatal screening and genetic counseling. | This study documents the changes in the percentages of advanced maternal age (AMA) pregnancies in the United States and in Washington State, underlying demographic factors, the impact on the predicted incidence of Down syndrome, and its impact on Down syndrome screening. Data on births in the United States from 1933 to... |
2,338,461 | New simple tests for age-at-onset anticipation: application to panic disorder. | Recently, testing for anticipation has received renewed interest. It is well known that standard statistical methods are inappropriate for this purpose due to problems of sampling bias. Few statistical tests have been proposed for comparing mean age of onset in affected parents with mean age of onset in affected childr... |
2,338,462 | Analysis of single-locus tests to detect gene/disease associations. | A goal of association analysis is to determine whether variation in a particular candidate region or gene is associated with liability to complex disease. To evaluate such candidates, ubiquitous Single Nucleotide Polymorphisms (SNPs) are useful. It is critical, however, to select a set of SNPs that are in substantial l... |
2,338,463 | Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype. | If carrier women could be identified in time and take appropriate measures, fragile X syndrome (FXS) can be prevented. Wide screening of women to be or in their early pregnancy was considered a good approach to identify carriers without misdetection. Nevertheless, we argued against the cost-effectiveness of implementin... |
2,338,464 | Hereditary cancer predisposition syndromes. | Cancer genetics is increasingly becoming integrated into the practice of modern medical oncology. The ability to distinguish a growing proportion of the 5% to 10% of all cancers that develop in individuals who have inherited a genetic mutation conferring heightened susceptibility to specific cancers may permit targeted... |
2,338,465 | Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism. | In testicular descent to the scrotum, a multistep process, many anatomical and hormonal factors play a role. Cryptorchidism occurs in about 1-2% of males and may cause secondary degeneration of the testes. Animal models have shown that abnormalities, in the calcitonin gene-related peptide (CgRP) activity, could be rele... |
2,338,466 | No association between 12 dopaminergic genes and schizophrenia in a large Dutch sample. | It has been suggested that genes involved in dopamine neurotransmission contribute to the pathogenesis of schizophrenia. However, reported associations of the disorder with genetic markers in dopaminergic genes have yielded inconsistent results. Possible explanations are differences in phenotyping, genetic heterogeneit... |
2,338,467 | mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers. | Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease caused by mitochondrial DNA (mtDNA) mutations. In this study, the mtDNA/nuclear DNA ratio was evaluated in 11 LHON patients with the 14484 mutation, 13 asymptomatic carriers and 18 non-carrier relatives as controls, to reveal possible relation... |
2,338,468 | New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. | To clarify the genotype-phenotype correlation and elucidate the role of digenic inheritance in cystinuria.</AbstractText>164 probands from the International Cystinuria Consortium were screened for mutations in SLC3A1 (type A) and SLC7A9 (type B) and classified on the basis of urine excretion of cystine and dibasic amin... |
2,338,469 | [Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene]. | To investigate the relationship between complex 1311 mutation of C-->T in exon 11 and 93 T-->C in intron 11 of G6PD gene and the G6PD deficiency.</AbstractText>Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 an... |
2,338,470 | Aggressive periodontitis with supernumerary teeth: a retrospective study. | There are four key studies in the periodontology literature reporting the correlation between supernumerary teeth and aggressive periodontitis. The aim of this study is to detect such a relationship.</AbstractText>Patients with supernumerary teeth were identified retrospectively from their orthopantomographs and were i... |
2,338,471 | BRCA1/2 testing in hereditary breast and ovarian cancer families II: impact on relationships. | Members of hereditary breast and ovarian cancer (HBOC) families often express concern during genetic counseling about the impact of BRCA1/2 testing on close relatives. Yet whether there are likely to be adverse effects of either the decision to undergo genetic testing or the results of testing on family relationships i... |
2,338,472 | Stool screening for colorectal cancer: molecular approaches. | Assay of molecular markers in stool represents a promising noninvasive approach to screen colorectal cancer. Given that neoplasms exfoliate abundantly into the lumen and that DNA recovered from stool can be assayed with sensitive techniques, there is a strong biologic rationale to pursue this emerging technology. A cha... |
2,338,473 | Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. | Mutations in the SH2D1A gene have been described in most patients with the clinical syndrome of X-linked lymphoproliferative disease (XLP). The diagnosis of XLP is still difficult given its clinical heterogeneity and the lack of a readily available rapid diagnostic laboratory test, particularly in patients without a fa... |
2,338,474 | No association was found between a functional SNP in ZDHHC8 and schizophrenia in a Japanese case-control population. | ZDHHC8 is a new and attractive candidate for a schizophrenia-susceptibility factor. First, several lines of linkage studies showed that 22q11, on which ZDHHC8 is located, is a "hot" region. Second, fine linkage disequilibrium mapping revealed a significant association around ZDHHC8. Moreover, a very recent study report... |
2,338,475 | [A probability analysis for HLA matching in adult stem cell transplantation treating nervous genetic diseases]. | The aim of this study was to investigate the clinical feasibility of adult stem cell transplantation for lethal mono-gene inherited disease, Duchenne muscular dystrophy (DMD). A total of 30 blood samples from DMD patients were genotyped with HLA-A,-B and -DR alleles by means of polymerase chain reaction-reverse sequenc... |
2,338,476 | [CALM-AF10 fusion transcripts in primary leukemia with t(10;11) and in vitro chemotherapy sensitivity of leukemic cells with t(10;11)]. | In order to determine the involvement of CALM-AF10 fusion transcripted in primary leukaemias with t(10;11) and its chemotherapy sensitivity in vitro, the AF10-CALM fusion transcripts were detected by reverse transcription-polymerase chain reaction (RT-PCR), and the chemotherapy sensitivity testing in vitro was undergon... |
2,338,477 | Migraine and cerebral white matter lesions: when to suspect cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). | Patients with migraine are at an increased risk for white matter lesions, typically multiple, small, punctate hyperintensities in the deep or periventricular white matter, best observed on magnetic resonance imaging utilizing T2-weighted or FLAIR sequences. The underlying pathogenesis of white matter lesions in migrain... |
2,338,478 | Management of patients with hereditary medullary thyroid carcinoma. | The heredity of medullary thyroid carcinoma within MEN2 syndrome is caused by heterozygous germline mutations in the RET proto-oncogene. Since MEN2-associated mutations involve only hot spots, the molecular genetic analysis of the RET proto-oncogene constitutes the perfect tool for the diagnosis of MEN2, being thus con... |
2,338,479 | Transcription-based prediction of response to IFNbeta using supervised computational methods. | Changes in cellular functions in response to drug therapy are mediated by specific transcriptional profiles resulting from the induction or repression in the activity of a number of genes, thereby modifying the preexisting gene activity pattern of the drug-targeted cell(s). Recombinant human interferon beta (rIFNbeta) ... |
2,338,480 | Regeneration of the pancreatic beta cell. | Type 1 diabetes is the result of an autoimmune attack against the insulin-producing beta cells of the endocrine pancreas. Current treatment for patients with type 1 diabetes typically involves a rigorous and invasive regimen of testing blood glucose levels many times a day along with subcutaneous injections of recombin... |
2,338,481 | Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. | We describe 2 sisters diagnosed initially with paroxysmal kinesigenic choreoathetosis, a condition characterized by brief episodes of spasms precipitated by sudden movement. However, subsequent testing showed hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone levels consistent with pseudohypoparathyroidi... |
2,338,482 | Loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression. | Dysregulation of central serotonin neurotransmission has been widely suspected as an important contributor to major depression. Here, we identify a (G1463A) single nucleotide polymorphism (SNP) in the rate-limiting enzyme of neuronal serotonin synthesis, human tryptophan hydroxylase-2 (hTPH2). The functional SNP in hTP... |
2,338,483 | Nasopharyngeal aerobic bacterial flora and Staphylococcus aureus nasal carriage in deaf children. | Effectively communicating the promise of new technologies can be challenging, particularly when the science is not yet fully developed and its application is not well defined and understood. Toxicogenomics meshes toxicology with genomic technology (study of the entire expanse of genetic information in an organism) and ... |
2,338,484 | Survey of HNPCC Management Analysis of Responses from 18 International Cancer Centres. | Eighteen international cancer centres responded to a questionnaire designed to determine clinic practices regarding the management of Hereditary Non-Polyposis Colorectal Cancer (HNPCC). Areas covered include definition, clinical intakes, pre-genetic testing for microsatellite instability (MSI) or expression of mismatch... |
2,338,485 | Patient perspective on the value of genetic counselling for familial pancreas cancer. | To assess patient views regarding the value of genetic counselling for familial pancreas cancer in the absence of predictive genetic testing.</AbstractText>At-risk adults with three or more relatives with pancreas cancer received genetic counselling prior to research screening via endoscopic ultrasound. Questionnaires ... |
2,338,486 | Clinical outcome of hereditary breast cancer in the lithuanian population. | Breast cancer family history has been known to be one of the main cancer risk factors. Members of high-risk families should be given recommendations which may improve prophylaxis, early diagnosis and treatment. Detection of high-risk families is possible by identification of mutations in cancer susceptibility genes lik... |
2,338,487 | A phase I vaccination study with tyrosinase in patients with stage II melanoma using recombinant modified vaccinia virus Ankara (MVA-hTyr). | A significant percentage of patients with stage II melanomas suffer a relapse after surgery and therefore need the development of adjuvant therapies. In the study reported here, safety and immunological response were analyzed after vaccination in an adjuvant setting with recombinant modified vaccinia virus Ankara carry... |
2,338,488 | Association analysis of the dopamine D3 receptor gene ser9gly and brain-derived neurotrophic factor gene val66met polymorphisms with antipsychotic-induced persistent tardive dyskinesia and clinical expression in Chinese schizophrenic patients. | The association between the dopamine D3 receptor (DRD3) ser9gly genetic polymorphism and tardive dyskinesia (TD), a serious adverse motor disorder after long-term antipsychotic treatment, has been studied extensively in recent years. However, the existence of inconsistent reports makes the role of the DRD3 ser9gly poly... |
2,338,489 | Analysis of oligonucleotide array experiments with repeated measures using mixed models. | Two or more factor mixed factorial experiments are becoming increasingly common in microarray data analysis. In this case study, the two factors are presence (Patients with Alzheimer's disease) or absence (Control) of the disease, and brain regions including olfactory bulb (OB) or cerebellum (CER). In the design consid... |
2,338,490 | Polymorphism profile of nine short tandem repeat Loci in the Han chinese. | Nine short tandem repeat (STR) markers (D3S1358, VWA, FGA, THO1, TPOX, CSFIPO, D5S818, D13S317, and D7S820) and a sex-identification marker (Amelogenin locus) were amplified with multiplex PCR and were genotyped with a four-color fluorescence method in samples from 174 unrelated Han individuals in North China. The alle... |
2,338,491 | Clinical signs, underlying cause, and outcome in cats with seizures: 17 cases (1997-2002). | To determine clinical signs, results of diagnostic testing, underlying cause, and outcome in cats with seizures.</AbstractText>Retrospective study.</AbstractText>17 cats with seizures.</AbstractText>Only those cats in which an underlying metabolic abnormality causing the seizures had been identified, diagnostic imaging... |
2,338,492 | [Analysis of the function of liver development using medaka, Oryzias latipes].<Pagination><StartPage>1454</StartPage><EndPage>1458</EndPage><MedlinePgn>1454-8</MedlinePgn></Pagination><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Watanabe</LastName><ForeName>Tomomi</ForeName><Initials>T</Initials><Affiliatio... | Stoddard solvent (white spirit/mineral spirit) is the most widely used solvent in the paint industry. It is used as a dry cleaning agent; as an extraction, cleaning, and degreasing solvent; and as a solvent in aerosols, paints, wood preservatives, asphalt products, lacquers, and varnishes. Stoddard solvent IIC was nomi... |
2,338,493 | Ehlers-Danlos syndrome, classical type: case management. | As the field of genetics expands, there will be more need for health care professionals to possess basic knowledge of genetic conditions and patterns of inheritance to assist their patients and to make the proper referrals. Ehlers-Danlos syndrome (EDS) is a group of genetic connective tissue disorders that affects appr... |
2,338,494 | HLA-B27 typing: evaluation of an allele-specific PCR melting assay and two flow cytometric antigen assays. | Human leukocyte antigen B27 (HLA-B27) is a major histocompatibility complex class 1 molecule that is strongly associated with the disease ankylosing spondylitis. Testing for HLA-B27 is of diagnostic value because 90% of patients with ankylosing spondylitis have the B27 antigen. Two commonly used HLA-B27 flow cytometric... |
2,338,495 | Community involvement in developing policies for genetic testing: assessing the interests and experiences of individuals affected by genetic conditions. | Because the introduction of genetic testing into clinical medicine and public health creates concerns for the welfare of individuals affected with genetic conditions, those individuals should have a role in policy decisions about testing. Mechanisms for promoting participation range from membership on advisory committe... |
2,338,496 | Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy. | Of the more than 40 genetically defined dominantly inherited hearing loss syndromes, only a few are associated with bilateral vestibulopathy. No genetic mutations have been identified in families with bilateral vestibulopathy and normal hearing.</AbstractText>To perform a genome-wide scan for linkage in four families w... |
2,338,497 | Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives. | To analyse the gene encoding the CD40 ligand (CD40L) in 11 Australian patients from 10 unrelated families with the X linked hyper-IgM (XHIM) phenotype.</AbstractText>The CD40L gene was screened for mutations using direct sequencing of exon specific polymerase chain reaction (PCR) products.</AbstractText>Ten mutations w... |
2,338,498 | Efficacy of screening the intermediate cluster region of the bcl2 gene in follicular lymphomas by PCR. | The t(14;18) translocation is a common finding in nodal follicular B cell lymphomas and diffuse large B cell lymphomas, and results in the overexpression of the antiapoptotic bcl2 protein. This chromosome rearrangement can be detected by the polymerase chain reaction (PCR), with most breakpoints in the bcl2 gene occurr... |
2,338,499 | Allergies in immigrants. | We studied the influence of environmental factors on allergy disease in immigrants that came to Israel during the last 20 years from A) Ethiopia and B) former Soviet Union. Immigrants who came from Ethiopia had no allergies upon arrival; they suffered from severe parasitic infections and had extremely elevated IgE leve... |
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