Unnamed: 0 int64 0 2.34M | title stringlengths 5 21.5M | abst stringlengths 1 21.5M |
|---|---|---|
2,338,800 | Neurosurgical delivery of chemotherapeutics, targeted toxins, genetic and viral therapies in neuro-oncology. | Local delivery of biologic agents, such as gene and viruses, has been tested preclinically with encouraging success, and in some instances clinical trials have also been performed. In addition, the positive pressure infusion of various therapeutic agents is undergoing human testing and approval has already been granted... |
2,338,801 | [Thrombophilia]. | A survey on definitions, epidemiology, clinical manifestations of congenital thrombophilias and clinical relevant acquired thrombophilias is given. Diagnostic and therapeutical strategies are presented. |
2,338,802 | Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. | Despite being the second most frequent type of polymorphism in the genome, diallelic insertion-deletion polymorphisms (indels) have received far less attention in the study of sequence variation. In this report, we describe an approach that can detect indels in the heterozygous state and can comprehensively identify in... |
2,338,803 | Testing the status-dependent ESS model: population variation in fighter expression in the mite Sancassania berlesei. | The conditional evolutionarily stable strategy (ESS) with status-dependent tactics is the most commonly invoked ESS for alternative reproductive tactics within the sexes. Support for this model has recently been criticized as apparent rather than real. We address key predictions of the status-dependent ESS in three pop... |
2,338,804 | [Analysis of the IT15 gene in Huntington's disease families]. | Direct molecular genetic testing carried out in 59 Huntington's disease patients belonging to 46 families from Bashkortostan revealed the (CAG)n repeat expansion in exon 1 of the IT15 gene in 57 of them. By use of this analysis the disease status was not confirmed in two patients with atypical form of the disease and n... |
2,338,805 | DHPLC is superior to SSCP in screening p53 mutations in esophageal cancer tissues. | Mutations of the p53 tumor-suppressor gene universally occur on exons 5-8 in human cancer. We analyzed these mutations in esophageal cancer tissue from 207 patients in China using 2 methods, single-strand conformation polymorphism (SSCP), one of the most frequently used methods, and the recently developed denaturing hi... |
2,338,806 | Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. | Fanconi anemia (FA) is a rare autosomal recessive disorder of hematopoiesis, with at least 11 complementation groups. FANCA, a gene for group A, accounts for the majority of FA patients. Previous studies of FANCA mutations revealed high allelic heterogeneity, frequent occurrence of large deletions, and interpopulation ... |
2,338,807 | Testing for clonal propagation. | The conceptual basis for testing clonal propagation is reconsidered with the result that two steps need to be distinguished clearly: (1) specification of the characteristics of multilocus genotype frequencies that result from sexual reproduction together with the kinds of deviations from these characteristics that are ... |
2,338,808 | Phylogeographic evidence for the existence of an ancient biogeographic barrier: the Isthmus of Kra Seaway. | Biogeographic boundaries are characterised by distinct faunal and floral assemblages restricted on either side, but patterns among groups of taxa often vary and may not be discrete. Historical biogeography as a consequence, while providing crucial insights into the relationship between biological diversity and earth hi... |
2,338,809 | Genetic testing in hereditary melanoma. | Advances in our understanding of molecular genetics bring about unique challenges in our ability to practice molecular medicine. With the availability of commercial testing for various genetic cancer syndromes, including hereditary melanoma, specific issues regarding its use and limitations require attention before ful... |
2,338,810 | Intragenomic variation of the rDNA internal transcribed spacers in sponges (Phylum Porifera): implications for phylogenetic studies. | The internal transcribed spacer regions (ITS1 and ITS2) of the tandemly repeated nuclear ribosomal DNA clusters are frequently used as markers for fine scale analyses in diverse animals. In certain taxa, ITS is nearly exclusively used for population level or inter-specific studies, despite the frequent presence of dive... |
2,338,811 | Detecting phylogenetic incongruence using BIONJ: an improvement of the ILD test. | The problem of testing for congruence between phylogenetic data has long been debated among phylogeneticists, but reaches a critical point with the availability of large amount of biological sequences. Notably in prokaryotes, where the amount of lateral transfers is believed to be important, the inference of phylogenie... |
2,338,812 | Delivery of a vector encoding mouse hyaluronan synthase 2 via a crosslinked hyaluronan film. | We have developed a crosslinked hyaluronic acid (HA) film with DNA incorporated within its structure and have characterized this system for its efficacy in sustained transferring of a vector encoding mouse hyaluronan synthase 2 (Has2). Analysis of the DNA release kinetics indicated that the HA films degraded when treat... |
2,338,813 | Nipah virus glycoprotein: production in baculovirus and application in diagnosis. | A method for serological diagnosis of Nipah virus (NiV) is described. DNA encoding truncated G protein of NiV was cloned into the pFastBac HT vector, and the fusion protein to His-tag was expressed in insect cells by recombinant baculovirus. The resulting His-G recombinant fusion protein was purified by affinity chroma... |
2,338,814 | Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia. | Hereditary haemorrhagic telangiectasia (HHT) is a rare disorder with one per 6000-10,000 affected individuals in the general Caucasian population. HHT is genetically heterogeneous, involving at least two loci HHT1 mapping to chromosome 9q34.1 and HHT2 mapping to chromosome 12q31. The loci have been identified as endogl... |
2,338,815 | Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability. | Usher syndrome type III is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of vestibular dysfunction and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form ... |
2,338,816 | Health motivation and emotional vigilance in genetic testing for prostate cancer risk. | Actual uptake of genetic testing for cancer susceptibility is generally lower than 50%, despite a high initial interest above 80%. As population-based genetic testing for cancer susceptibility becomes more widespread, there will be an increasing need to understand the relationship of patient-affective factors to test i... |
2,338,817 | Psychological impact of genetic testing for hereditary non-polyposis colorectal cancer. | The psychological impact of predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC) was assessed in 114 individuals (32 carriers and 82 non-carriers) attending familial cancer clinics, using mailed self-administered questionnaires prior to, 2 weeks, 4 months and 12 months after carrier status ... |
2,338,818 | Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease. | A 20-year-old North American patient developed rapidly progressive cognitive decline and pronounced ataxia, a phenotype compatible with prion disease. No structural changes were found in the PRNP gene, which excludes genetic prion disease, but the patient's PRNP codon 129 Met/Met genotype is known to predispose to vari... |
2,338,819 | [Families at risk of colon cancer II. Hereditary nonpolyposis colorectal carcinoma]. | Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease characterised by almost inevitable development of colorectal carcinoma and/or endometrium and other defined malignancies in affected individuals. HNPCC is caused by a germline mutation in a mismatch repair genes (MMR). The pur... |
2,338,820 | Myotonic dystrophy presenting as new-onset hand weakness and recurrent pneumonia in a patient with paraplegia: a case report. | We describe a previously independent T11 paraplegic patient who had delayed-onset hand weakness and recurrent pneumonia caused by myotonic dystrophy. A man in his late thirties suffered a thoracic spinal cord injury (SCI) from a gunshot wound at the age of 17 years, with resultant T11 American Spinal Injury Association... |
2,338,821 | Genetics of colorectal cancer. | Colorectal cancer (CRC) is the second leading cause of cancer-related mortality in the United States. As such, it assumes a significant role in both health policy decision-making and scientific research. CRC has been a model for investigating the molecular genetics of cancer development and progression; this is in part... |
2,338,822 | Multidrug-resistant tuberculosis. | Multidrug-resistant tuberculosis (MDR-TB) caused by Mycobacterium tuberculosis resistant to both isoniazid and rifampicin with or without resistance to other drugs is among the most worrisome elements of the pandemic of antibiotic resistance. Globally, about three per cent of all newly diagnosed patients have MDR-TB. T... |
2,338,823 | Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans. | Familial cancer clustering, without obvious heritability, poses a major challenge for current cancer risk assessment and management. Reliable determination of familial risks for cancer is important for clinical genetic counselling, but medically verified data on familial risks for many malignancies have been limited. H... |
2,338,824 | A polymer library approach to suicide gene therapy for cancer. | Optimal gene therapy for cancer must (i) deliver DNA to tumor cells with high efficiency, (ii) induce minimal toxicity, and (iii) avoid gene expression in healthy tissues. To this end, we generated a library of >500 degradable, poly(beta-amino esters) for potential use as nonviral DNA vectors. Using high-throughput ... |
2,338,825 | Inherited cancer in children: practical/ethical problems and challenges. | Over recent years significant molecular advances have led to a better understanding of the genetics of both syndromic and non-syndromic paediatric cancers. In addition many hereditary cancer predisposition syndromes are now recognised, some of which have implications for children in affected families. Improvements in g... |
2,338,826 | [Active screening for genetic pathology in newborns. II. Genetic counseling and prenatal diagnosis in high risk families].<Pagination><StartPage>32</StartPage><EndPage>35</EndPage><MedlinePgn>32-5</MedlinePgn></Pagination><Abstract><AbstractText>Active screening for genetic pathology over a period of 12 years (1990-200... | Active screening for genetic pathology over a period of 12 years (1990-2001) involved examination of 29629 newborns at the Clinic of Obstetrics and Gynaecology. Congenital anomalies were detected in 1244 cases (live-, stillbirths and terminated pregnancies) which gives an average incidence rate of 42.0 per 1000 among t... |
2,338,827 | Nesidioblastosis: an old term and a new understanding. | Nesidioblastosis is a clinically, pathologically, and genetically heterogeneous disease. Differences between well described forms in neonates with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) and rare forms in adults are described. Histopathologic criteria include hypertrophic islets occasionally showing ... |
2,338,828 | Hereditary breast cancer in Jews. | A family history of breast cancer poses higher risks for Jewish versus non-Jewish women, particularly for early-onset breast cancer. This appears to be due in large part to the high prevalence (2.5%) of three BRCA1 and BRCA2 founder mutations in Ashkenazi Jews. About 4 to 8% of non-Jewish male breast cancer cases versu... |
2,338,829 | Fanconi anemia in Ashkenazi Jews. | Fanconi anemia (FA) should be included among the genetic diseases that occur at high frequency in the Ashkenazi Jewish population. FA exhibits extensive genetic heterogeneity; there are currently 11 complementation groups reported, and 8 (i.e., FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, and FANCL) genes h... |
2,338,830 | Inflammatory bowel disease in Ashkenazi Jews: implications for familial colorectal cancer. | Inflammatory bowel disease (IBD) has a multifactorial etiology and includes ulcerative colitis (UC) and Crohn's disease (CD). Powerful epidemiologic and genetic studies have provided ample evidence that a subset of both CD and UC are attributable to a likely primary genetic etiology. This is evidenced by the recent ide... |
2,338,831 | A636P testing in Ashkenazi Jews. | Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited colorectal cancer syndrome attributable to mutations in one of several DNA mismatch repair genes, most commonly MLH1 and MSH2 . In certain populations, founder mutations account for a substantial portion of HNPCC. In this report we s... |
2,338,832 | Trends in colorectal cancer incidence and mortality in the Israeli Jewish ethnic populations. | Ashkenazi Jews, as compared to non-European Jews and non-Jews, are at increased risk for colorectal cancer (CRC), this is attributed to genetic susceptibility and/or lifestyle.</AbstractText>To follow Israeli long-term trends in CRC incidence and mortality and their associations with ethnicity.</AbstractText>All Israel... |
2,338,833 | Ashkenazi Jewish genetic disorders. | The frequency of several genes responsible for 'single-gene' disorders and disease predispositions is higher among Ashkenazi Jews than among Sephardi Jews and non-Jews. The disparity is most likely the result of founder effect and genetic drift, rather than heterozygote advantage. The more common Mendelian Ashkenazi Je... |
2,338,834 | Medullary thyroid carcinoma: nationwide Japanese survey of 634 cases in 1996 and 271 cases in 2002. | Medullary thyroid carcinoma (MTC) occurs sporadically or as an inherited disease, with the latter occurring in the form of multiple endocrine neoplasia (MEN) type 2A, MEN type 2B, or familial non-MEN medullary carcinoma (FMTC). MTC is inherited as an autosomal dominant trait and is associated with germline mutations of... |
2,338,835 | Population structure in Pseudoroegneria spicata (Poaceae: Triticeae) modeled by Bayesian clustering of AFLP genotypes. | Pseudoroegneria spicata (Poaceae: Triticeae) is an abundant, allogamous species widely adapted to the temperate, semiarid steppe and open woodland regions of western North America. Amplified fragment length polymorphism (AFLP), model-based Bayesian clustering, and other methods of hypothesis testing were used to invest... |
2,338,836 | Systematic screening and identification of antigens recognized by monoclonal antibodies raised against the developing lateral olfactory tract. | During development, olfactory bulb axons navigate a complex microenvironment composed of myriad molecules to construct a bundle called the lateral olfactory tract. The axons themselves also express thousands of different molecules. In the present study, we produced and characterized six monoclonal antibodies that label... |
2,338,837 | Chronic and recurrent otitis media: a genome scan for susceptibility loci. | Otitis media (OM) is the most common childhood disease. Almost all children experience at least one episode, but morbidity is greatest in children who experience chronic/recurrent OM (COME/ROM). There is mounting evidence that COME/ROM clusters in families and exhibits substantial heritability. Subjects who had tympano... |
2,338,838 | Comparison of microsatellites versus single-nucleotide polymorphisms in a genome linkage screen for prostate cancer-susceptibility Loci. | Prostate cancer is one of the most common cancers among men and has long been recognized to occur in familial clusters. Brothers and sons of affected men have a 2-3-fold increased risk of developing prostate cancer. However, identification of genetic susceptibility loci for prostate cancer has been extremely difficult.... |
2,338,839 | Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. | The authors examined the relationship between cholesterol metabolism and suicidality in carriers of Smith-Lemli-Opitz syndrome and their families. This population has a partial deficiency in 7-dehydrocholesterol reductase (DHCR7), the enzyme that catalyzes the last step in cholesterol biosynthesis.</AbstractText>Suicid... |
2,338,840 | Effect of two- and three-locus linkage disequilibrium on the power to detect marker/phenotype associations. | There has been much recent interest in describing the patterns of linkage disequilibrium (LD) along a chromosome. Most empirical studies that have examined this issue have concentrated on LD between collections of pairs of markers and have not considered the joint effect of a group of markers beyond these pairwise conn... |
2,338,841 | Mutation rate and predicted phenotypic target sizes in ethylnitrosourea-treated mice. | Chemical mutagenesis of the mouse is ongoing in several centers around the world, with varying estimates of mutation rate and number of sites mutable to phenotype. To address these questions, we sequenced approximately 9.6 Mb of DNA from G1 progeny of ethylnitrosourea-treated mice in a large, broad-spectrum screen. We ... |
2,338,842 | Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | Congenital adrenal hyperplasias (CAH) are inherited defects of cortisol biosynthesis. More than 90% of CAH are caused by 21-hydroxylase deficiency (21-OHD), found in 1:10 000 to 1:15 000 live births. Females with 'classical' 21-OHD, being exposed to excess androgens prenatally, are born with virilized external genitali... |
2,338,843 | Lateralised brain function in anurans: comparison to lateralisation in other vertebrates. | In recent years researchers have begun to investigate lateralisation of behaviour in amphibians. Given the mounting evidence of lateralisation in birds and mammals, and even reptiles, over the past two or more decades, it is not surprising that amphibians have attracted attention in this context. In particular, the evi... |
2,338,844 | Molecular targets for neuroprotection. | Amyotrophic lateral sclerosis (ALS) is a fatal paralytic neurodegenerative disorder. Experimental models of ALS such as the transgenic rodents expressing mutant superoxide dimutase-1 are playing a pivotal role in our understanding of ALS pathogenesis, and in our testing of new therapeutic interventions aimed at protect... |
2,338,845 | Positionally cloned susceptibility genes in allergy and asthma. | After several years of research to find asthma-susceptibility genes using genome-wide linkage scans and refined genetic mapping methods, four highly interesting candidate genes have recently been reported. Each of these genes represents a different functional class, and might point to a new pathway in the pathogenesis ... |
2,338,846 | Recent advances in the management of the child who has hemophilia. | This article discusses recent advances in the management of the child who has hemophilia. |
2,338,847 | Glucocorticoid receptor polymorphisms and post-traumatic stress disorder. | Post-traumatic stress disorder (PTSD) is reported in some studies to be associated with increased glucocorticoid (GC) sensitivity. Two common glucocorticoid receptor (GR) polymorphisms (N363S and BclI) appear to contribute to the population variance in GC sensitivity. There is some evidence that there may be a genetic ... |
2,338,848 | Development of a D-FISH method to detect DEK/CAN fusion resulting from t(6;9)(p23;q34) in patients with acute myelogenous leukemia. | The t(6;9)(p23;q34)-DEK/CAN fusion occurs with an incidence of 1-5% in adult patients with acute myelogenous leukemia (AML) and tends to have an unfavorable prognosis at diagnosis. Due to the subtle appearance of this chromosome rearrangement, both initial detection and minimal residual disease (MRD) tracking by conven... |
2,338,849 | Update on newborn screening for cystic fibrosis. | Cystic fibrosis (CF) is the most common lethal genetic disorder in the United States to be identified in childhood. In November 2003 the US Cystic Fibrosis Foundation and the Centers for Disease Control and Prevention convened an expert panel to review the indications for CF newborn screening. In this review we discuss... |
2,338,850 | Enhancement of Ad-p53 therapy with docetaxel in head and neck cancer. | The objective of this project was to determine the mechanisms in which docetaxel enhances Ad-p53 tumor suppressive effects in head and neck cancer.</AbstractText>In advanced head and neck squamous cell carcinoma (HNSCC), the 5-year survival rate is less than 40%. Because patients with advanced HNSCC have a high rate of... |
2,338,851 | HyPhy: hypothesis testing using phylogenies. | The HyPhypackage is designed to provide a flexible and unified platform for carrying out likelihood-based analyses on multiple alignments of molecular sequence data, with the emphasis on studies of rates and patterns of sequence evolution.</AbstractText>http://www.hyphy.org</AbstractText>muse@stat.ncsu.edu</AbstractTex... |
2,338,852 | Colonic crypt changes during adenoma development in familial adenomatous polyposis: immunohistochemical evidence for expansion of the crypt base cell population. | Familial adenomatous polyposis patients, who have a germline APC mutation, develop adenomas in normal-appearing colonic mucosa, and in the process usually acquire a mutation in the other APC allele as well. Nonetheless, the cellular mechanisms that link these initiating genetic changes with the earliest tissue changes ... |
2,338,853 | A phase I open-label, dose-escalation, multi-institutional trial of injection with an E1B-Attenuated adenovirus, ONYX-015, into the peritumoral region of recurrent malignant gliomas, in the adjuvant setting. | ONYX-015 is an oncolytic virus untested as a treatment for malignant glioma. The NABTT CNS Consortium conducted a dose-escalation trial of intracerebral injections of ONYX-015. Cohorts of six patients at each dose level received doses of vector from 10(7) plaque-forming units (pfu) to 10(10) pfu into a total of 10 site... |
2,338,854 | Gene therapy of the hemophilias. | Development of hemophilia gene therapy depends on testing gene transfer vectors in hemophilic and nonhemophilic animals. Available animal models include factor VIII or factor IX knockout mice as well as dogs with spontaneous hemophilia A or B. Large animals (particularly dogs) more closely replicate the requirements fo... |
2,338,855 | Immunotherapeutic strategies for hepatocellular carcinoma. | There is a continuing need for innovative, alternative therapies for hepatocellular carcinoma (HCC). Immunotherapy for cancer is attractive because of the exquisite specificity of the immune response. Activation of an HCC-specific response can be accomplished by strategies targeting tumor-associated self-antigens (for ... |
2,338,856 | Characterization of a closed femur fracture model in mice. | The goal of this study was to develop and characterize a closed femur fracture model for mice that can be used for the molecular and genetic analysis of fracture healing.</AbstractText>Longitudinal time study of species-specific fracture healing.</AbstractText>A protocol was developed for creating reproducible, closed ... |
2,338,857 | Quantitative PCR detection of t(14;18) bcl-2/JH fusion sequences in follicular lymphoma patients: comparison of peripheral blood and bone marrow aspirate samples. | In patients with follicular lymphoma (FL), it is unresolved whether peripheral blood (PB) can replace bone marrow (BM) aspirate samples for detection of bcl-2/JH fusion sequences that result from the t(14;18)(q32;q21). We compare here the results of quantitative polymerase chain reaction (q-PCR) analysis for bcl-2/JH i... |
2,338,858 | Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms. | The development of simple and rapid methods for the detection of the common genetic mutations associated with cystic fibrosis (CF) requires access to positive-control samples including the 5/7/9T variants of intron 8. We used PCR and a simple multiplex bead-array assay to identify 5/7/9T control samples from 29 commerc... |
2,338,859 | Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound. | Tremendous progress has been made in our understanding of the molecular basis of hearing and hearing loss. Through recent advances, we have begun to understand the fascinating biology of the auditory system and unveiled new molecular mechanisms of hearing impairment. Changes in the diagnostic impact of genetic testing ... |
2,338,860 | Breast cancer surveillance in women with hereditary risk due to BRCA1 or BRCA2 mutations. | Women with germline mutations in BRCA1 or BRCA2 are known to be at substantially elevated risk for breast cancer. With increasing acceptance of genetic testing, significant numbers of mutation carriers are being identified, but evidence-based guidelines for the management of women at hereditary risk are lacking. This a... |
2,338,861 | Multivariate search for differentially expressed gene combinations. | To identify differentially expressed genes, it is standard practice to test a two-sample hypothesis for each gene with a proper adjustment for multiple testing. Such tests are essentially univariate and disregard the multidimensional structure of microarray data. A more general two-sample hypothesis is formulated in te... |
2,338,862 | [Should we support large-scale screening for genetic haemochromatosis in France?]. | Genetic hemochromatosis meets the principal World Health Organization criteria for diseases warranting systematic population screening. Indeed, it is a frequent, late-onset, severe disease that is easy to diagnose and cure. However, its penetrance is much lower than thought prior to the discovery of the HFE1 gene, whos... |
2,338,863 | Lack of association of birth size with polymorphisms of two imprinted genes, IGF2R and GRB10. | Little is known about the determinants of birth size variability among individuals. Maternal and nutritional factors have been studied, but familial clustering suggests genetic factors as well. As a first step in testing this hypothesis, we examined common sequence variants in IGF2R and GRB10, two genes involved in the... |
2,338,864 | The prevalence of celiac disease among family members of celiac disease patients. | Celiac disease (CD) is more common in certain risk groups. Family members of known celiac patients represent the most important group. Serological screening enables us to detect patients before they develop serious complications. HLA typing has also proven to be a valuable diagnostic tool, especially in excluding the d... |
2,338,865 | Separate and interacting effects within the catechol-O-methyltransferase (COMT) are associated with schizophrenia. | Several lines of evidence have implicated the catechol-O-methyltransferase (COMT) gene as a candidate for schizophrenia (SZ) susceptibility, not only because it encodes a key dopamine catabolic enzyme but also because it maps to the velocardiofacial syndrome region of chromosome 22q11 which has long been associated wit... |
2,338,866 | Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort. | This multi-centre UK study assesses the impact of predictive testing for breast and ovarian cancer predisposition genes (BRCA1/2) in the clinical context. In the year following predictive testing, 261 adults (59 male) from nine UK genetics centres participated; 91 gene mutation carriers and 170 noncarriers. Self-report... |
2,338,867 | Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family. | The authors report a family in which two affected first cousins had a severe demyelinating Charcot-Marie-Tooth disease (CMT) phenotype. One had related parents, and there were no other affected relatives, suggesting an autosomal recessive mode of inheritance. Molecular studies showed that a de novo duplication in 17p11... |
2,338,868 | Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. | Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Bra... |
2,338,869 | The -1021C->T DBH gene variant is not associated with epilepsy or antiepileptic drug response. | Dopamine beta-hydroxylase (DBH) catalyzes the conversion of dopamine to norepinephrine (NE). Animal studies show that genes in the NE pathway are candidates for susceptibility to epilepsy and antiepileptic drug (AED) response. The authors genotyped the -1021C-->T major functional polymorphism in the DBH gene in 675 ... |
2,338,870 | PINK1 (PARK6) associated Parkinson disease in Ireland. | Mutations in the PINK1 gene have recently been shown to cause autosomal recessive Parkinson disease (PD). The authors assessed the prevalence of PINK1 gene mutations in 290 well-characterized early- and late-onset PD patients from Ireland. In a 51-year-old PD patient with a family history of PD, the authors identified ... |
2,338,871 | PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations. | The authors performed linkage analysis in 39 families with autosomal recessive early-onset PD (AR-EOPD) negative for parkin and DJ-1 mutations. Eight families including three Japanese, two Taiwanese, one Turkish, one Israeli, and one Philippine showed evidence of linkage with PARK6 with multipoint log of the odds (lod)... |
2,338,872 | APOE epsilon4 and cognitive decline in older stroke patients with early cognitive impairment. | Dementia is common post stroke, but the potential role of early cognitive impairment and APOE epsilon4 as risk factors is unclear.</AbstractText>Stroke survivors older than 75 years without dementia at 3 months post stroke received a detailed neuropsychological evaluation at 3 and 15 months post stroke, which included ... |
2,338,873 | Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population. | Hepatocyte nuclear factor (HNF)-4alpha is part of a transcription factor network that is key for the development and function of the beta-cell. Rare mutations in the HNF4alpha gene cause maturity-onset diabetes of the young. A number of type 2 diabetes linkage studies have found evidence of linkage to 20q12-13.1 where ... |
2,338,874 | Emergence of multidrug-resistant Salmonella enterica serovar typhi in Korea. | A chloramphenicol-resistant strain of Salmonella enterica serovar Typhi was first noted in Korea in 1992, when a resistant isolate was detected in a returned traveler. Continued isolation of multidrug-resistant (MDR) strains thereafter in other settings prompted a retrospective analysis of laboratory records and phenot... |
2,338,875 | The effect of mutation on Rhodococcus equi virulence plasmid gene expression and mouse virulence. | An 81 kb virulence plasmid containing a pathogenicity island (PI) plays a crucial role in the pathogenesis of Rhodococcus equi pneumonia in foals but its specific function in virulence and regulation of plasmid-encoded virulence genes is unclear. Using a LacZ selection marker developed for R. equi in this study, in com... |
2,338,876 | The 118 A > G polymorphism in the human mu-opioid receptor gene may increase morphine requirements in patients with pain caused by malignant disease. | Dispositions for genes encoding opioid receptors may explain some variability in morphine efficacy. Experimental studies show that morphine and morphine-6-glucuronide are less effective in individuals carrying variant alleles caused by the 118 A > G polymorphism in the mu-opioid receptor gene (OPRM1). The purpose of... |
2,338,877 | Clinical management where medicine meets management. Array of hope. | Routine use of genetic profiling for managing some cancers could soon be a reality. Its wider application in cancer care will require substantial public investment in research and development, IT and setting up a service infrastructure. The first commercial test kits for breast cancer prognosis have already been launch... |
2,338,878 | Data partitions and complex models in Bayesian analysis: the phylogeny of Gymnophthalmid lizards. | Phylogenetic studies incorporating multiple loci, and multiple genomes, are becoming increasingly common. Coincident with this trend in genetic sampling, model-based likelihood techniques including Bayesian phylogenetic methods continue to gain popularity. Few studies, however, have examined model fit and sensitivity t... |
2,338,879 | Testing the phylogenetic position of a parasitic plant (Cuscuta, Convolvulaceae, asteridae): Bayesian inference and the parametric bootstrap on data drawn from three genomes. | Previous findings on structural rearrangements in the chloroplast genome of Cuscuta (dodder), the only parasitic genus in the morning-glory family, Convolvulaceae, were attributed to its parasitic life style, but without proper comparison to related nonparasitic members of the family. Before molecular evolutionary ques... |
2,338,880 | Toxicogenomic approach to endocrine disrupters: identification of a transcript profile characteristic of chemicals with estrogenic activity. | Public concerns have been raised in recent years over the possible adverse effects that may result from exposure to chemicals in the environment that have the potential to interfere with the normal function of the endocrine system in wildlife and humans ("endocrine disrupters"). Regulations have been established that r... |
2,338,881 | Gene delivery: intelligent but just at the beginning. | Gene therapy is used to treat genetic disorders, which may be achieved both ex vivo and in vivo. Gene-delivery systems usually include a carrier system which both protects the gene expression plasmid and allows its extracellular and intracellular trafficking. Viruses are used in most of the clinical trials today; howev... |
2,338,882 | His tag effect on solubility of human proteins produced in Escherichia coli: a comparison between four expression vectors. | We have compared four different vectors for expression of proteins with N- or C-terminal hexahistidine (His6) tags in Escherichia coli by testing these on 20 human proteins. We looked at a total recombinant protein production levels per gram dry cell weight, solubility of the target proteins, and yield of soluble and t... |
2,338,883 | A rapid and efficient transformation protocol for the grass Brachypodium distachyon. | A fast and efficient microprojectile bombardment-mediated transformation protocol is reported for the grass species Brachypodium distachyon, a proposed alternative model plant to Oryza sativa for functional genomics in grasses. Embryogenic calli derived from immature embryos were transformed by a construct containing t... |
2,338,884 | MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. | This overview covers the group of disorders that presents radiographically as multiple epiphyseal dysplasia (MED). The disorders include "classic MED" (Ribbing and Fairbank types): MED that is caused by mutations in the cartilage oligomeric matrix protein (COMP), type IX collagen, and matrilin 3 genes (MATN3); and MED ... |
2,338,885 | [Congenital hearing loss. Molecular genetic diagnosis of connexin genes and genetic counselling]. | About 50% of congenital non-syndromic hearing impairment is caused by genetic factors. Research on the genetics of deafness has revealed a vast number of relevant genes. Mutations in the GJB2 gene have been shown to be the most common in several populations.</AbstractText>Mutation analysis of the genes for connexin 26,... |
2,338,886 | Osteogenesis imperfecta presenting as simultaneous bilateral tibial tubercle avulsion fractures in a child: a case report. | This is a case report of a unique presentation of a mild form of osteogenesis imperfecta (OI) (type IA) in a 9-year-old African-American boy who presented with simultaneous bilateral tibial tubercle avulsion fractures. The boy presented to the authors' emergency room complaining of acute bilateral knee pain. He could n... |
2,338,887 | Genotyping technologies: application to biotransformation enzyme genetic polymorphism screening. | Pharmacogenomics encompasses several major areas: the study of polymorphic variations in drug response and disease susceptibility, identification of the effects of drugs/xenobiotics at the genomic level, and genotype/phenotype associations. The most common type of human genetic variations is single-nucleotide polymorph... |
2,338,888 | Haplotypic association of DDAH1 with susceptibility to pre-eclampsia. | Association between pre-eclampsia (PEE1) and the dimethylarginine dimethylaminohydrolase (DDAH) 1 and 2 genes, which play a role in the regulation of nitric oxide synthesis and release, was studied. In a case-control study design single nucleotide polymorphisms (SNPs) were determined at eight sites in the DDAH1 gene an... |
2,338,889 | Mutational spectrum of p53 mutations in primary breast and ovarian tumors. | Breast and ovarian cancers, like other cancers, occur due to genetic damage. Research aimed to determine the specific genes involved in the development of breast and ovarian cancers will help to understand how normal breast and ovarian epithelial cells escape regulation of proliferation, apoptosis and senescence. It wa... |
2,338,890 | [Socio-psychological and ecological aspects within the system of nuclear radiation risk mitigation]. | The authors bring into light several aspects of nuclear radiation risks, i.e. physical safety of nuclear technologies and ecology, place of operator within the nuclear radiation safety system (proficiency, protective culture, safety guides) and consider approaches to the human factor quantification within the system of... |
2,338,891 | [Clinical and molecular genetic findings in isolated sporadic Duane syndrome]. | Duane retraction syndrome (DURS) accounts for 1 - 4 % of all cases of strabismus. Approximately 90 % of the cases are sporadic with a preponderance for females and the left eye. Many associated ocular and systemic findings have been described. Recently, mutations of SALL4 have been found in patients with autosomal-domi... |
2,338,892 | [Accuracy of videokeratographic quantitative criteria for detection of keratoconus suspects in families with keratoconus]. | We statistically assessed the videokeratographic data obtained from families with keratoconus in order to determine reliable criteria for detecting keratoconus suspects.</AbstractText>Fourteen keratoconus patients from 12 families were enlisted. We investigated 55 relatives (110 eyes). Standard videokeratographic data ... |
2,338,893 | A novel single nucleotide polymorphism (SNP) of the CYP2C19 gene in a Japanese subject with lowered capacity of mephobarbital 4'-hydroxylation. | We sequenced all nine exons and exon-intron junctions of the cytochrome P450 2C19 (CYP2C19) gene from a Japanese subject with a lowered capacity of CYP2C19-mediated 4'-hydroxylation after an oral administration of mephobarbital. We found a novel single nucleotide polymorphism (SNP) of CYP2C19 gene as follows: SNP, 0401... |
2,338,894 | Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. | Approximately 14% of genetic mutations in patients with ataxia-telangiectsia (A-T) are single-nucleotide changes that result in primary premature termination codons (PTCs), either UAA, UAG, or UGA. The purpose of this study was to explore a potential therapeutic approach for this subset of patients by using aminoglycos... |
2,338,895 | DEMSIM: a discrete event based mechanistic simulation platform for gene expression and regulation dynamics. | In this paper, a discrete event based mechanistic simulation platform DEMSIM is developed for testing and validating putative regulatory interactions. The proposed framework models the main processes in gene expression, which are transcription, translation and decay processes, as stand-alone modules while superimposing... |
2,338,896 | Altered molecular pathways in gliomas: an overview of clinically relevant issues. | Primary central nervous system (CNS) tumors constitute a small fraction of the overall incidence of human cancer, but they represent a major source of cancer-related morbidity and mortality. The most common CNS tumor subtype in adults, high-grade astrocytoma, confers a dismal prognosis with a median survival of only 1 ... |
2,338,897 | Molecular evolution and phylogenetic utility of the petD group II intron: a case study in basal angiosperms. | Sequences of spacers and group I introns in plant chloroplast genomes have recently been shown to be very effective in phylogenetic reconstruction at higher taxonomic levels and not only for inferring relationships among species. Group II introns, being more frequent in those genomes than group I introns, may be furthe... |
2,338,898 | [Mono- and dizygotic twins in forensic paternity testing in practice at the Department of Forensic Medicine (Silesian Academy of Medicine, Katowice) in the years 1996-2003]. | Giving an opinion on disputable paternity, concerning monozygotic twins in practice at the Department of Forensic Medicine (Silesian Academy of Medicine, Katowice) demonstrated their ideal agreement according to examined genetic markers possible. Even the mutation, which was revealed using the RFLP-VNTR method was the ... |
2,338,899 | [Rare, out-ladder alleles at the STR loci in the population of Upper Silesia].<Pagination><StartPage>101</StartPage><EndPage>106</EndPage><MedlinePgn>101-6</MedlinePgn></Pagination><Abstract><AbstractText>Among individuals (participants of paternity testing) from the Upper Silesia region rare, out-ladder alleles in fou... | Among individuals (participants of paternity testing) from the Upper Silesia region rare, out-ladder alleles in four STRs (routinely used in paternity testing) were found. There are alleles: VWA*12 and 21, CSF1PO*16, D13S317*6 and TPOX*5 with the following frequency: 0.0006 and 0.0006, 0.0005, 0.0006 and 0.0005.</Abstr... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.