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2,337,000 | Recent developments in genomewide association scans: a workshop summary and review. | With the imminent availability of ultra-high-volume genotyping platforms (on the order of 100,000-1,000,000 genotypes per sample) at a manageable cost, there is growing interest in the possibility of conducting genomewide association studies for a variety of diseases but, so far, little consensus on methods to design a... |
2,337,001 | ERBB2 in pediatric cancer: innocent until proven guilty. | Adult oncologists and their research colleagues have "led the charge" in the war on cancer. Their efforts have generated effective new chemotherapies that target cancer causing molecular alterations. It is hoped that these successes will be repeated within the pediatric oncology community. Testing whether molecular tar... |
2,337,002 | Association mapping of kernel size and milling quality in wheat (Triticum aestivum L.) cultivars. | Association mapping is a method for detection of gene effects based on linkage disequilibrium (LD) that complements QTL analysis in the development of tools for molecular plant breeding. In this study, association mapping was performed on a selected sample of 95 cultivars of soft winter wheat. Population structure was ... |
2,337,003 | A genetic screen targeting the tumor necrosis factor/Eiger signaling pathway: identification of Drosophila TAB2 as a functionally conserved component. | Signaling by tumor necrosis factors (TNFs) plays a prominent role in mammalian development and disease. To fully understand this complex signaling pathway it is important to identify all regulators and transduction components. A single TNF family member, Eiger, is encoded in the Drosophila genome, offering the possibil... |
2,337,004 | Information, understanding and the benign order of everyday life in genetic counselling. | Genetic counselling as a medical encounter is characterised by the centrality of the provision of information. Much of the counselling session is filled by information delivery about the symptoms, the prognosis and the transmission of the disease, the risks involved and the possibilities for genetic testing. The presen... |
2,337,005 | Promoter-dependent disruption of genes: simple, rapid, and specific PCR-based method with application to three different yeast. | PCR product-based gene disruption has greatly accelerated molecular analysis of Saccharomyces cerevisiae. This approach involves amplification of a marker gene (e.g., URA3) including its flanking regulatory (promoter and polyadenylation) regions using primers that include at their 5' ends about 50 bases of homology to ... |
2,337,006 | Reexploring the possible roles of some genes associated with nasopharyngeal carcinoma using microarray-based detection. | In gene expression profiling, nasopharyngeal carcinoma (NPC) 5-8F cells differ from 6-10B cells in terms of their high tumorigenicity and metastatic ability. Differentially expressed genes from the two cell types were analyzed by combining with MILANO (the automatic custom annotation of microarray results which is base... |
2,337,007 | Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix. | Correlated multiple testing is widely performed in genetic research, particularly in multilocus analyses of complex diseases. Failure to control appropriately for the effect of multiple testing will either result in a flood of false-positive claims or in true hits being overlooked. Cheverud proposed the idea of adjusti... |
2,337,008 | Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies. | Fluorescence in situ hybridization (FISH) analyses were performed on supernumerary marker chromosomes (SMCs) detected in 43,273 prenatal diagnoses over a period of 11 years, 1993-2003. A total of 42 pregnancies with SMC were identified, indicating a prevalence of one in 1032. A total of 15 SMCs were endowed with detect... |
2,337,009 | Methanol-dependent gene expression demonstrates that methyl-coenzyme M reductase is essential in Methanosarcina acetivorans C2A and allows isolation of mutants with defects in regulation of the methanol utilization pathway. | Methanosarcina acetivorans C2A is able to convert several substrates to methane via at least four distinct methanogenic pathways. A common step in each of these pathways is the reduction of methyl-coenzyme M (CoM) to methane catalyzed by methyl-CoM reductase (MCR). Because this enzyme is used in each of the known pathw... |
2,337,010 | Failure to find association between TRAR4 and schizophrenia in the Chinese Han population. | The TRAR4 gene locates in SCZD5 (MIM 603175), which a number of studies have linked with schizophrenia. One recent study suggested that three TRAR4 variants (M1: rs4305745, P=0.0014; M2: rs6903874, P=0.0026; M3: rs6937506, P=0.0052) in the 3'-UTR were associated with schizophrenia. To replicate these findings, we condu... |
2,337,011 | Linkage analyses of chromosomal region 18p11-q12 in dyslexia. | Dyslexia is characterized as a significant impairment in reading and spelling ability that cannot be explained by low intelligence, low school attendance or deficits in sensory acuity. It is known to be a hereditary disorder that affects about 5% of school aged children, making it the most common of childhood learning ... |
2,337,012 | [Indirect cystic fibrosis carrier detection in two Chilean families by analysis of DNA polymorphisms closely linked to the CFTR gene]. | Molecular genetic analysis is the only method that allows accurate detection of Cystic Fibrosis (CF) carriers. Nevertheless, its application is restricted to those families in which the affected child holds known mutations. Since most Chilean CF patients already studied are heterozygous and carry a mutation not yet cha... |
2,337,013 | Genomewide cDNA microarray screening of genes related to benefits and toxicities of platinum-based chemotherapy in patients with advanced lung cancer. | The authors conducted a study using cDNA microarray analysis to determine whether expression levels of genes in tumors were correlated with the outcome of chemotherapy. Forty-seven patients were studied, and all except 3 received platinum-based chemotherapy. The expression levels of 1176 genes in transbronchial biopsy ... |
2,337,014 | Narrative review: screening for colorectal cancer in patients with a first-degree relative with colonic neoplasia. | Many patients and providers are aware that colorectal cancer (CRC) "runs in families." A patient with 1 first-degree relative with CRC has approximately twice the personal risk for CRC as a similar person without this family history. Colorectal cancer is the third most common type of cancer in the United States. When p... |
2,337,015 | Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. | To identify germ line CDH1 mutations in hereditary diffuse gastric cancer (HDGC) families and develop guidelines for management of at risk individuals.</AbstractText>We ascertained 31 HDGC previously unreported families, including 10 isolated early-onset diffuse gastric cancer (DGC) cases. Screening for CDH1 germ line ... |
2,337,016 | Machine learning approaches for phenotype-genotype mapping: predicting heterozygous mutations in the CYP21B gene from steroid profiles. | Non-linear relations between multiple biochemical parameters are the basis for the diagnosis of many diseases. Traditional linear analytical methods are not reliable predictors. Novel nonlinear techniques are increasingly used to improve the diagnostic accuracy of automated data interpretation. This has been exemplifie... |
2,337,017 | The new look of behavioral genetics in developmental psychopathology: gene-environment interplay in antisocial behaviors. | This article reviews behavioral-genetic research to show how it can help address questions of causation in developmental psychopathology. The article focuses on studies of antisocial behavior, because these have been leading the way in investigating environmental as well as genetic influences on psychopathology. First,... |
2,337,018 | Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. | Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we have described 12 SLC... |
2,337,019 | The effect of genotyping error in sib-pair genomewide linkage scans depends crucially upon the method of analysis. | In genomewide linkage scans for complex diseases involving many loci with small genetic effects, it may be the case that no loci reach conventional statistical significance. A complementary method of evaluating linkage results, locus counting, may provide evidence for the existence of a number of genetic loci in these ... |
2,337,020 | Glucose-6-phosphate dehydrogenase deficiency and Southeast Asian ovalocytosis in asymptomatic Plasmodium carriers in Sumba island, Indonesia. | Glucose-6-phosphate dehydrogenase (G6PD) deficiency and Southeast Asian ovalocytosis (SAO) caused by a 27-bp deletion in the band 3 gene (Band3Delta 27) are well-documented genetic traits resistant to malarial diseases; however, relationships between these traits and asymptomatic malaria infection hitherto had not been... |
2,337,021 | Avoiding versus seeking: the relationship of information seeking to avoidance, blunting, coping, dissonance, and related concepts. | How have theorists and empirical researchers treated the human tendency to avoid discomforting information?</AbstractText>A historical review (1890-2004) of theory literature in communication and information studies, coupled with searches of recent studies on uptake of genetic testing and on coping strategies of cancer... |
2,337,022 | Neurexophilin 3 is highly localized in cortical and cerebellar regions and is functionally important for sensorimotor gating and motor coordination. | Neurexophilin 3 (Nxph3) is a specific ligand of synaptic alpha-neurexins that are essential for efficient neurotransmitter release. Previous biochemical work demonstrated that Nxph3 interacts with an extracellular domain of alpha-neurexins in a tight complex; however, no information is available on the localization or ... |
2,337,023 | Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients. | Hereditary hemochromatosis (HH) is a common cause of primary iron overload induced by genetic impairment of iron metabolism. More than 80% of HH patients in populations of European origin are homozygotes for a single mutation C282Y, or compound heterozygotes for C282Y and H63D mutations in the HFE gene. However, in the... |
2,337,024 | In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. | Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period with a phenotype including alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset of cases Hirschsprung disease and later tumors of neural crest origin. Study of genes related to the autono... |
2,337,025 | Association analysis of brain-derived neurotrophic factor (BDNF) gene 196 A/G polymorphism with Alzheimer's disease (AD) in mainland Chinese. | A functional polymorphism in the coding region of brain-derived neurotrophic factor (BDNF) gene (196 A/G, Met66Val) has recently been reported to be associated with Alzheimer's disease (AD) and with an overrepresentation of G allele in AD patients, but different results have also been presented. We conducted a case-con... |
2,337,026 | Base composition analysis of human mitochondrial DNA using electrospray ionization mass spectrometry: a novel tool for the identification and differentiation of humans. | In traditional approaches, mitochondrial DNA (mtDNA) variation is exploited for forensic identity testing by sequencing the two hypervariable regions of the human mtDNA control region. To reduce time and labor, single nucleotide polymorphism (SNP) assays are being sought to possibly replace sequencing. However, most SN... |
2,337,027 | Association of HLA DQB1 0602 in sarcoidosis patients with small fiber neuropathy. | Sarcoidosis has been reported to be associated with the HLA genes, in particular DQB1.</AbstractText>High resolution DQB 1 of 103 sarcoidosis patients was obtained by sequence-based typing; low resolution HLA-A/B/DRB 1 typing was performed by serological and molecular methods. Small fiber neuropathy (SFN) was establish... |
2,337,028 | The implications of electronic health records for personalized medicine. | The emerging concept of an electronic health record (EHR) targeted at a patient centric, cross-institutional and longitudinal information entity (possibly spanning the individuals lifetime) has great promise for personalized medicine. In fact, it is probably the only vehicle through which we may truly realize the perso... |
2,337,029 | Human immunodeficiency virus type 1 env clones from acute and early subtype B infections for standardized assessments of vaccine-elicited neutralizing antibodies. | Induction of broadly cross-reactive neutralizing antibodies is a high priority for AIDS vaccine development but one that has proven difficult to be achieved. While most immunogens generate antibodies that neutralize a subset of T-cell-line-adapted strains of human immunodeficiency virus type 1 (HIV-1), none so far have... |
2,337,030 | Genotoxicity testing of four textile dyes in two crosses of Drosophila using wing somatic mutation and recombination test. | In this study, four textile dyes, namely Astrazon Yellow, Red, Blue, and Black, were tested for their genotoxic effects in the wing cells of Drosophila melanogaster. Two crosses were used, the standard cross (ST) and the improved high-bioactivation cross (HB), the latter being characterized by increased sensitivity to ... |
2,337,031 | The canine telomerase catalytic subunit (dogTERT): characterisation of the gene promoter and identification of proximal core sequences necessary for specific transcriptional activity in canine telomerase positive cell lines. | Telomerase biology is complicated by studies that show that telomere expression and telomere biology differs between species, and that existing animal models do not closely resemble the human situation. We have previously reported a description of telomere/telomerase biology in the dog and have suggested this as an alt... |
2,337,032 | Investigating the specificity of real-time PCR assays using synthetic oligonucleotides. | Potato spindle tuber viroid (PSTVd) causes damaging diseases of solanaceous crops and is a quarantine pathogen in the European Union. Previously a one-tube real-time RT-PCR assay based on TaqMan chemistry was developed and shown to be ideally suited to PSTVd detection. However, since it was impossible to trace infected... |
2,337,033 | Monophyly of primary photosynthetic eukaryotes: green plants, red algae, and glaucophytes. | Between 1 and 1.5 billion years ago, eukaryotic organisms acquired the ability to convert light into chemical energy through endosymbiosis with a Cyanobacterium (e.g.,). This event gave rise to "primary" plastids, which are present in green plants, red algae, and glaucophytes ("Plantae" sensu Cavalier-Smith). The widel... |
2,337,034 | Coral gardens: paternity and drug testing on the reef. | An international team has used molecular genetics and chemical tagging to trace how baby clownfish travel from their mother's nest through the ocean to the anemone they will live on. More than one out of five juveniles came from nests that were only meters away, despite spending over a week drifting in ocean currents. ... |
2,337,035 | Strong selection against hybrids at a hybrid zone in the Ensatina ring species complex and its evolutionary implications. | The analysis of interactions between lineages at varying levels of genetic divergence can provide insights into the process of speciation through the accumulation of incompatible mutations. Ring species, and especially the Ensatina eschscholtzii system exemplify this approach. The plethodontid salamanders E. eschscholt... |
2,337,036 | Genealogical footprints of speciation processes in wild tomatoes: demography and evidence for historical gene flow. | Multilocus studies assessing patterns of nucleotide polymorphism within and among closely related species provide access to genealogical information bearing on demographic and geographic aspects of their speciation history. However, the technical difficulties in obtaining sufficient sequence data have severely limited ... |
2,337,037 | Prenatal diagnosis of spinal muscular atrophy: Indian scenario. | To study the psychosocial issues associated with prenatal diagnosis of SMA in India and the use of SMN1 copy number analysis for carrier detection prior to offering prenatal diagnosis.</AbstractText>Homozygous deletion of SMN1 gene was done by PCR-RFLP. Copy number analysis of SMN1 gene was performed by quantitative PC... |
2,337,038 | ATM polymorphism and hereditary nonpolyposis colorectal cancer (HNPCC) age of onset (United States). | We examined a G-to-A single nucleotide polymorphism of the ATM gene, to determine if it influences hereditary non-polyposis colorectal cancer (HNPCC) age of onset. HNPCC is caused by mutations in mismatch repair genes, especially hMLH1 and hMSH2. ATM germline mutations have been associated with breast and digestive can... |
2,337,039 | Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. | Age at menarche is a strong and consistent predictor of breast cancer risk in the general population, but has not been well studied in women with a family history of breast cancer. We conducted this study to examine whether the presence of a deleterious BRCA1 or BRCA2 mutation influences age at menarche and to investig... |
2,337,040 | Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations. | Cystic fibrosis (CF), which is due to mutations in the cystic fibrosis transmembrane conductance regulator gene, is a common life-shortening disease. Although CF occurs with the highest incidence in Caucasians, it also occurs in other ethnicities with variable frequency. Recent national guidelines suggest that all coup... |
2,337,041 | Experience and strategy for the molecular testing of Duchenne muscular dystrophy. | Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophies (DMD and BMD). Approximately two-thirds of the affected patients have large deletions or duplications. Using the multiplex polymerase chain reaction and Southern blotting techniques, the detection of these larger mutations is relat... |
2,337,042 | Association of chronic fatigue syndrome with human leucocyte antigen class II alleles. | A genetic component to the development of chronic fatigue syndrome (CFS) has been proposed, and a possible association between human leucocyte antigen (HLA) class II antigens and chronic fatigue immune dysfunction has been shown in some, but not all, studies.</AbstractText>To investigate the role of HLA class II antige... |
2,337,043 | The involvement of the aspartate triad of the active center in all catalytic activities of multisubunit RNA polymerase. | Three conserved aspartate residues in the largest subunit of multisubunit RNA polymerases (RNAPs) coordinate two Mg2+ ions involved in the catalysis of phosphodiester bond synthesis. A structural model based on the stereochemistry of nucleotidyl transfer reaction as well as recent crystallographic data predict that the... |
2,337,044 | Quantifying mixed populations of drug-resistant human immunodeficiency virus type 1. | In order to survive prolonged treatment with antiretroviral nucleoside analogs, the human immunodeficiency virus type 1 (HIV-1) is selectively forced to acquire mutations in the reverse transcriptase (RT) gene. Some of these mutations are more common than others and have become markers for antiretroviral resistance. Fo... |
2,337,045 | Animal breeding and disease. | Single-locus disorders in domesticated animals were among the first Mendelian traits to be documented after the rediscovery of Mendelism, and to be included in early linkage maps. The use of linkage maps and (increasingly) comparative genomics has been central to the identification of the causative gene for single-locu... |
2,337,046 | Estimation of effective population sizes from data on genetic markers. | The effective population size (Ne) is an important parameter in ecology, evolutionary biology and conservation biology. It is, however, notoriously difficult to estimate, mainly because of the highly stochastic nature of the processes of inbreeding and genetic drift for which Ne is usually defined and measured, and bec... |
2,337,047 | Differential expression of genes at stages when regeneration can and cannot occur after injury to immature mammalian spinal cord. | Comprehensive screens were made for genes that change their expression during a brief critical period in development when neonatal mammalian central nervous system (CNS) loses its capacity to regenerate. In newly born opossums older than 12 days regeneration ceases to occur in the cervical spinal cord. It continues for... |
2,337,048 | Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening. | Factors that are predictive of carrying BRCA1 and BRCA2 germline mutations in patients with breast carcinoma are awaited widely. The genetically homogeneous Sardinian population may be useful for defining the role of such genetic alterations further through a clinical evaluation program.</AbstractText>One hundred two o... |
2,337,049 | Novel and established markers of cobalamin deficiency: complementary or exclusive diagnostic strategies. | New developments in diagnostic markers and a better understanding of the limitations of traditional diagnostic strategies have allowed diagnosis of earlier stages and atypical forms of cobalamin deficiency. Still, there are no generally accepted guidelines for the definition, diagnosis, treatment, and follow-up of coba... |
2,337,050 | Women's attitudes toward testing for fragile X carrier status: a qualitative analysis. | Fragile X syndrome (FXS) is primarily due to a repeat expansion mutation found in the FMR1 X-linked gene. We have conducted a qualitative analysis of responses from women concerning their attitudes toward testing for carrier status of the fragile X mutation among reproductive-age women. We obtained responses from focus... |
2,337,051 | Policy recommendations for carrier testing and predictive testing in childhood: a distinction that makes a real difference. | The genetic testing of children raises many ethical concerns. This paper examines how five position statements from Canada, UK and USA, which present guidelines for good practice in this area produce different recommendations for carrier testing and predictive testing. We find that the genetic information generated thr... |
2,337,052 | Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. | These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published in 2000) have been revised, replacing a stratified pre- and full mut... |
2,337,053 | Hangover susceptibility in relation to aldehyde dehydrogenase-2 genotype, alcohol flushing, and mean corpuscular volume in Japanese workers. | A study of Asian-American students suggested a positive association between inactive ALDH2*2 and susceptibility to hangover. A biomarker for moderate-to-heavy drinking in persons with inactive aldehyde dehydrogenase-2 (ALDH2) is increased mean corpuscular volume (MCV).</AbstractText>Associations between hangover and AL... |
2,337,054 | A statistical model for HIV-1 sequence classification using the subtype analyser (STAR). | HIV-1 antiretroviral drug resistance testing produces large amounts of HIV-1 protease and reverse transcriptase sequences. These provide an excellent resource to study the incidence, spread and clinical significance of HIV-1 subtypes. We have produced a program, Subtype Analyser (STAR) that rapidly and accurately subty... |
2,337,055 | MBL2 polymorphisms screening in a regional Italian CF Center. | We performed MBL2 genotyping in 47 CF patients-cared of at the regional CF Centre of Trieste-trying to establish a correlation within allelic variants of MBL2 and modification of patients' clinical outcome. FEV1 values were significantly lowered and a significantly earlier age at onset of Pseudomonas aeruginosa colonis... |
2,337,056 | Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives. | A retrospective case series of 53 female patients with incontinentia pigmenti (IP) including 28 secondary cases (female relatives of probands) was reviewed and compared with other series in an attempt to estimate more accurately the true disease burden of patients with IP. We found that, while the frequency of the firs... |
2,337,057 | Decision making and decision support for hereditary breast-ovarian cancer susceptibility. | Genetic testing for disease susceptibility has the potential to revolutionize health care by allowing for individually tailored disease prevention strategies. To achieve this promise, patients and physicians must use the information obtained through genetic testing to make medical decisions that are consistent with pat... |
2,337,058 | [Genetic counseling]. | The emergence of molecular genetics into a routine medical service is demanding a paradigm shift in medical practice. An adequate reformation of its discipline and technology is required in every field of medical service including nursing. In 2000, the JFCR hospital founded a Familial Cancer Center to provide genetic c... |
2,337,059 | [The state of the art of hereditary cancer studies]. | During the last two decades, many genes responsible for hereditary cancer syndromes have been isolated. Based on the accumulating genetic information, genetic testing for both patients and the relatives is carried out in hospitals and clinics, and the clinical significance has been investigated. In addition to the gene... |
2,337,060 | [Gene testing of hereditary cancer on comprehensive gene medical examination support system]. | It has been estimated that genetic factors or a combination of genetic and environmental factors play a role in the development of 10-15% of all cancers. A genetic cause of hereditary cancer has been identified in more than 40 diseases till now. For preventing this cancer, gene testing is essential because it has no de... |
2,337,061 | [Clinical genetics for hereditary cancers: from the viewpoint of physicians working at a hospital specialized in cancer]. | In our daily practice, we provide clinical genetic consultation for patients at risk for hereditary cancers. The clinical characteristics of hereditary cancer syndromes in adults differ from those of hereditary diseases in children, although both involve genetic disease. One major difference is the difficulty in diagno... |
2,337,062 | [Genetic medicine in the university hospital]. | The importance of genetic medicine is growing along with the development of genome science. Especially for hereditary cancer syndromes, genetic counseling and genetic tests are becoming an essential part of the medical service for those diseases. However, in Japan, there is a shortage of clinical geneticists who are fa... |
2,337,063 | [Knowledge, attitude and behavior about the inherited predisposition to cancer. A survery of a population without any history of cancer in central Tunisia]. | The genetic bases of inherited predisposition to cancer are now established. The aim of our study is to value the knowledge, attitude and behavior of the general population about the inherited predisposition to cancer. Our study involved a population of 200 individuals. Without any history of cancer. The mean age of ou... |
2,337,064 | Couples at risk: HIV-1 concordance and discordance among sexual partners receiving voluntary counseling and testing in Uganda. | To determine correlates of HIV-1 concordance for couples receiving voluntary HIV counseling and testing.</AbstractText>Cross-sectional study of couples receiving voluntary HIV counseling and testing in Kampala, Uganda.</AbstractText>An interview and physical examination were conducted for 49 HIV-1-concordant (both part... |
2,337,065 | Familial Alzheimer disease: decreases in CSF Abeta42 levels precede cognitive decline. | CSF amyloid beta-peptide 42 (Abeta42) levels in presymptomatic subjects with pathogenic mutations in the PS1 gene are significantly lower than in an age-matched control group. Consequently, in these subjects, there is a window of opportunity estimated as at least 4 to 12 years to evaluate the ability of any putative pr... |
2,337,066 | New calcium channel mutations predict aberrant RNA splicing in episodic ataxia. | Episodic ataxia type 2 (EA2) is an autosomal dominant channelopathy characterized by paroxysmal cerebellar ataxia. Previous studies suggest that most EA2 cases are associated with mutations in the alpha1A subunit of the P/Q-type voltage-gated calcium channel gene CACNA1A. In a UK national study, the authors analyzed 15... |
2,337,067 | Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. | Axonal neuropathy linked to the CMT2A locus was originally associated with a mutation in the KIF1B gene. However, mutations in this gene have not been described associated with any other CMT2A families. Recently, mutations in the MFN2 gene, encoding the mitochondrial GTPase mitofusin 2 (Mfn2), have been identified as c... |
2,337,068 | Polymorphisms in the promoter region of the alpha1A-adrenoceptor gene are associated with schizophrenia/schizoaffective disorder in a Spanish isolate population. | Animal models have implicated the alpha(1)-adrenergic subtypes in cognitive functions relevant to schizophrenia, but no consensus exists with regard to the status of noradrenergic receptor populations in psychiatric patients. We focused on one alpha(1)-adrenergic subtype, the alpha(1A)-adrenergic receptor, and proposed... |
2,337,069 | CXCR3 polymorphisms associated with risk of asthma. | The chemokine (C-X-C motif) receptor 3 (CXCR3) gene, on chromosome Xq13, is known to have critical roles in inflammatory and immune responses. In an effort to discover polymorphisms have been implicated in asthma, we investigated the genetic polymorphisms in CXCR3 to evaluate it as a potential candidate gene for a host... |
2,337,070 | Allele epsilon 4 of APOE is a stronger predictor of Alzheimer risk in Sicily than in continental South Italy. | The genotype of apolipoprotein E was examined in 173 sporadic Alzheimer's disease (AD) patients, 132 with late onset (LOAD) and 41 with early onset (EOAD), and in 174 healthy matched controls from Sicily. Despite a low frequency of the epsilon 4 allele (6.3%, 95% CI: 4.2--9.4) in controls, epsilon 4 allele was a strong... |
2,337,071 | Custom zinc-finger nucleases for use in human cells. | Genome engineering through homologous recombination (HR) is a powerful instrument for studying biological pathways or creating treatment options for genetic disorders. In mammalian cells HR is rare but the creation of targeted DNA double-strand breaks stimulates HR significantly. Here, we present a method to generate, ... |
2,337,072 | Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. | HFE-associated hereditary haemochromatosis is a recessive, iron-overload disorder that affects about one in 200 north Europeans and that can be easily prevented. However, genetic screening for this disease is controversial, and so we assessed whether such screening was suitable for communities. Cheek-brush screening fo... |
2,337,073 | Polymorphisms of myelin-associated glycoprotein gene are associated with schizophrenia in the Chinese Han population. | Results of gene expression microarray and quantitative PCR studies have suggested abnormalities in the expression of myelin-related genes including myelin-associated glycoprotein (MAG) in schizophrenic patients. Research provides strong evidence for oligodendrocyte dysfunction in schizophrenics. In order to further ass... |
2,337,074 | Human p53 tumor suppressor gene (TP53) and schizophrenia: case-control and family studies. | The human p53 tumor suppressor gene (TP53) is considered as a candidate susceptibility gene for schizophrenia because of its functions in neurodevelopment. To test for an association between TP53 and schizophrenia, both the case-control study and the transmission disequilibrium test (TDT) were performed on genotype dat... |
2,337,075 | P-selectin glycoprotein ligand-1 variable number of tandem repeats (VNTR) polymorphism in patients with multiple sclerosis. | P-selectin glycoprotein ligand-1 (PSGL-1) is an important adhesion molecule involved in lymphocyte recruitment into the brain, which represents a crucial step in the pathogenesis of multiple sclerosis (MS). Three hundred twenty-one MS patients and 342 controls were genotyped for the presence of a polymorphism in the PS... |
2,337,076 | Pfeiffer syndrome: systemic and ocular implications. | In 1964, Pfeiffer described a three-generation family in which eight individuals had a syndrome consisting of craniosynostosis, broad thumbs and great toes, and partial syndactyly of the hands and feet. Pfeiffer syndrome affects males and females equally, and is most commonly a result of de novo mutations, but can be i... |
2,337,077 | Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa. | To determine the presence and frequency of mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa (ADRP), and to characterize the clinical characteristics of patients with the Lys238Arg mutation in the IMPDH1 gene.</AbstractText>Case reports and results of DNA analysis.</Abstract... |
2,337,078 | [Advances in the studies on the molecular and genetic aspects of epilepsy]. | Epilepsy is one of the most common and debilitating neurological diseases that affects more than 40 million people worldwide. Genetic factors contribute to the pathogenesis of epilepsy. Molecular genetic studies have identified 15 disease-causing genes for epilepsy. The majority of the genes encode ion channels, includ... |
2,337,079 | [Disease gene identification: opportunities and challenges]. | The recent achievements of the Human Genome Project make it increasingly feasible to determine the genetic basis of human diseases, especially complex traits. Genomics will provide powerful means to discover hereditary elements that interact with environmental factors leading to diseases. However, the expected transfor... |
2,337,080 | NMD microarray analysis for rapid genome-wide screen of mutated genes in cancer. | Gene mutations play a critical role in cancer development and progression, and their identification offers possibilities for accurate diagnostics and therapeutic targeting. Finding genes undergoing mutations is challenging and slow, even in the post-genomic era. A new approach was recently developed by Noensie and Diet... |
2,337,081 | The association between knowledge and attitudes about genetic testing for cancer risk in the United States. | Attitudes about genetic testing are likely to be an important determinant of uptake of predictive genetic tests among the general public. Several prior studies have suggested that positive attitudes about genetic testing may be inversely related to knowledge about genetic testing. We conducted a random-digit-dialing (R... |
2,337,082 | Screening the metallothionein III gene in sporadic amyotrophic lateral sclerosis. | Metallothioneins are proteins involved in antioxidant defence, essential metal homoeostasis and heavy metal detoxification, all mechanisms implicated in sporadic amyotrophic lateral sclerosis (SALS). We therefore looked for changes in the gene for nervous system-specific metallothionein III (MT3) that might explain sus... |
2,337,083 | Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum? | Among the motor neuron diseases, three share the clinical features of prominent upper motor neuron signs--amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS) and the hereditary spastic paraplegias (HSP). While genetic testing can assist in the identification of several variants of the latter, in the re... |
2,337,084 | Characterization of a population of monozygotic twins with asthma. | Asthma is a complex inflammatory lung disease that results from allergic and nonallergic environmental exposures in genetically susceptible individuals. The interrelationship and impact of environmental and genetic determinants on the development of asthma is still unclear. Monozygotic twins (MZT) have been considered ... |
2,337,085 | Treatment of low bone mass in premenopausal women: when may it be appropriate? | The diagnosis and treatment of osteoporosis in postmenopausal women has been well defined. Criteria for making a diagnosis using bone density testing has been established and widely disseminated. However, the definition established by the World Health Organization for osteoporosis cannot be used for other populations s... |
2,337,086 | Diagnosis and management of fragile X syndrome. | To complement the 2005 Annual Clinical Focus on medical genomics, AFP will be publishing a series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disorders and understand the kind of care the... |
2,337,087 | Huntington disease: a nursing perspective.<Pagination><StartPage>167</StartPage><EndPage>173</EndPage><MedlinePgn>167-72, quiz 173</MedlinePgn></Pagination><Abstract><AbstractText>Huntington disease is a serious neurogenetic disease that affects the physical, cognitive, and psychiatric health of the patient, and has a ... | Huntington disease is a serious neurogenetic disease that affects the physical, cognitive, and psychiatric health of the patient, and has a significant impact on the social life of the family. Nurses play a vital role as health care providers and advocates for the patient with Huntington disease.</Abstract><AuthorList ... |
2,337,088 | [Neurofibromatosis: the most frequent hereditary tumor predisposition syndrome]. | With an incidence of one in 3000 to 4000 individuals, neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases and very likely the most frequent disorder with increased cancer risk. Approximately fifty percent of all patients are familial cases and the remaining half consists of spor... |
2,337,089 | [Cystic fibrosis--the most frequent life-shortening autosomal recessive disease]. | Cystic Fibrosis (CF) is one of the most frequent genetic diseases in the white populations of Europe and North America. Its clinical manifestations are highly variable, ranging from a characteristic life-shortening pathology of the lungs and the pancreas in classical CF to symptoms mainly restricted to male sterility i... |
2,337,090 | [Genetic causes of mental retardation]. | Mental retardation (MR) is defined as congenital or early onset lifelong impairment of cognitive and adaptive functioning (IQ < 70). It effects approximately 3% of the Western population. The causes are heterogenous. Numerical or structural chromosome abnormalities are responsible for 10-20% of the mild cases (MMR) ... |
2,337,091 | [Genetic counselling]. | 'Genetic counselling is the process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing and transmitting it and of the ways in which this may be prevented or ameliorated.' The genetic counsellor will discuss the genet... |
2,337,092 | Chemical genetics and genomics and drug discovery. Highlights from the Society for Medicines Research symposium held Thursday March 10, 2005, in London, United Kingdom. | The SMR Symposium Chemical Genetics and Genomics: What Are They and Are They Helping Drug Discovery was held on March 10, 2005 at the National Heart and Lung Institute, Imperial College London. The conference program brought together an international line up of speakers representing academia, biotechnology and large ph... |
2,337,093 | Gene delivery to human sweat glands: a model for cystic fibrosis gene therapy. | Gene therapy vectors are mostly studied in cultured cells, rodents, and sometimes in non-human primates, but it is useful to test them in human tissue prior to clinical trials. In this study, we investigated the possibility of using human sweat glands as a model for testing cystic fibrosis (CF) gene therapy vectors. Hu... |
2,337,094 | Targeting gonadotropin receptor genes: reproductive biology, aging, and related health implications. | This review highlights observations gleaned from recent reports on the deletion of FSH and LH receptors in mice. Gonadal differentiation does not depend on the presence of gonadotropin receptors but development is affected to varying degrees in both sexes. In both knockouts the null females are infertile with severely ... |
2,337,095 | Genetic services for familial cancer patients: a follow-up survey of National Cancer Institute Cancer Centers. | Anecdotal reports suggest that the volume of services offered to individuals concerned with hereditary cancer risk has increased substantially in recent years. As a follow-up to our 1993 survey, we sought to determine how the scope and volume of genetic services has changed between 1993 and 2002.</AbstractText>We surve... |
2,337,096 | Congruence, consensus, and the comparative phylogeography of codistributed species in California. | Comparative phylogeography has emerged as a means of understanding the spatial patterns of genetic divergence of codistributed species. However, researchers are often frustrated because of the lack of appropriate statistical tests to assess concordancy of multiple phylogeographic trees. We develop a method for testing ... |
2,337,097 | Genetic diversity in german and European populations: looking for substructures and genetic patterns. | A classical case-control study is a powerful and cost-efficient approach to detect association of genetic markers with complex disease phenotypes. However, only a small fraction of significant association results has been replicated by other studies. Undetected genetic substructures in the population may be one of the ... |
2,337,098 | KORA-gen--resource for population genetics, controls and a broad spectrum of disease phenotypes. | KORA-gen is a resource for genetic epidemiological research, based on the KORA platform (Cooperative Health Research in the Region of Augsburg). Biosamples and phenotypic characteristics as well as environmental parameters of 18,000 adults from Augsburg and the surrounding counties are available. The age range of the p... |
2,337,099 | Deletion and duplication screening in the DMD gene using MLPA. | We have designed a multiplex ligation-dependent probe amplification (MLPA) assay to simultaneously screen all 79 DMD gene exons for deletions and duplications in Duchenne and Becker muscular dystrophy (DMD/BMD) patients. We validated the assay by screening 123 unrelated patients from Serbia and Montenegro already scree... |
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