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2,337,200 | A genetic screen in zebrafish identifies the mutants vps18, nf2 and foie gras as models of liver disease. | Hepatomegaly is a sign of many liver disorders. To identify zebrafish mutants to serve as models for hepatic pathologies, we screened for hepatomegaly at day 5 of embryogenesis in 297 zebrafish lines bearing mutations in genes that are essential for embryonic development. Seven mutants were identified, and three have p... |
2,337,201 | Oxidative stress as a multiple effector in Fanconi anaemia clinical phenotype. | Fanconi anaemia (FA) is a genetic disease characterised by bone marrow failure with excess risk of myelogenous leukaemia and solid tumours. A widely accepted notion in FA research invokes a deficiency of response to DNA damage as the fundamental basis of the 'crosslinker sensitivity' observed in this disorder. However,... |
2,337,202 | Partners of mutation-carriers for Huntington's disease: forgotten persons? | This study focuses on psychological distress and coping strategies in partners of tested persons 5 years after predictive testing for Huntington's disease. A total of 16 carrier-couples and 17 noncarrier-couples participated in the study. Self-report questionnaires were used, assessing depression level, anxiety, intrus... |
2,337,203 | Increasing rates of nasal carriage of methicillin-resistant Staphylococcus aureus in healthy children. | Prior studies, including one from our institution performed in 2001, suggest that nasal colonization with methicillin-resistant Staphylococcus aureus (MRSA) occurs infrequently in the healthy pediatric population (0.2-2.2%). However, infections caused by community-associated MRSA have increased remarkably in recent yea... |
2,337,204 | A genetic screen identifies putative targets and binding partners of CREB-binding protein in the developing Drosophila eye. | Drosophila CREB-binding protein (dCBP) is a very large multidomain protein, which belongs to the CBP/p300 family of proteins that were first identified by their ability to bind the CREB transcription factor and the adenoviral protein E1. Since then CBP has been shown to bind to >100 additional proteins and functions... |
2,337,205 | Increased power of microarray analysis by use of an algorithm based on a multivariate procedure. | The power of microarray analyses to detect differential gene expression strongly depends on the statistical and bioinformatical approaches used for data analysis. Moreover, the simultaneous testing of tens of thousands of genes for differential expression raises the 'multiple testing problem', increasing the probabilit... |
2,337,206 | No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population. | Autism is a child-onset pervasive developmental disorder, with a significant role of genetic factors in its development. Genome-wide linkage studies have suggested a 7q region as a susceptibility locus for autism. We investigated several single nucleotide polymorphisms (SNPs) of Forkhead Box P2 (FOXP2) and Protein-Tyro... |
2,337,207 | Orphan transcripts in Arabidopsis thaliana: identification of several hundred previously unrecognized genes. | Expressed sequence tags (ESTs) represent a huge resource for the discovery of previously unknown genetic information and functional genome assignment. In this study we screened a collection of 178 292 ESTs from Arabidopsis thaliana by testing them against previously annotated genes of the Arabidopsis genome. We identif... |
2,337,208 | Analysis of the polymorphic prion protein gene codon 129 in idiopathic Parkinson's disease. | Idiopathic Parkinson's disease (IPD) is a neurodegenerative disorder of unknown aetiology. Histopathological similarities between IPD and Creutzfeldt-Jakob prion disease (CJD) have been suggested. Homozygosity at polymorphic prion protein gene codon 129 (PRNP129) is a risk factor for developing CJD. Therefore we invest... |
2,337,209 | Association of the dopamine transporter gene with alcoholism. | It was investigated whether the allele A9 of the dopamine transporter gene (DAT1; SLC6A3) is associated with alcoholism, delirium tremens (DT), alcohol withdrawal seizures (AWS), or the daily alcohol intake.</AbstractText>A group of 102 healthy subjects and 216 alcoholics, including 97 patients with a history of mild w... |
2,337,210 | The gene family of ABC transporters--novel mutations, new phenotypes. | Members of the ABC (ATP-binding cassette) superfamily of genes encode transmembrane proteins that are involved in the transport of a variety of substrates both in and out of the cells, in addition to across intracellular membranes. Recently, mutations in two ABC-transporter genes, ABCC6 and ABCA12, have been demonstrat... |
2,337,211 | Commentary on Vrabelova et al. | The paper by Vrabelova et al. reflects a comprehensive genetic approach in characterizing genetically patients with Wilson disease (WD). They studied mutations within ATP7B-the gene encoding the defective WD protein ATPase 7B-in 227 WD patients from 200 unrelated Czech and Slovak families, which represents a very large... |
2,337,212 | HIV-1 Protease and reverse-transcriptase mutations: correlations with antiretroviral therapy in subtype B isolates and implications for drug-resistance surveillance. | Background. It is important, for drug-resistance surveillance, to identify human immunodeficiency virus type 1 (HIV-1) strains that have undergone antiretroviral drug selection.Methods. We compared the prevalence of protease and reverse-transcriptase (RT) mutations in HIV-1 sequences from persons with and without previ... |
2,337,213 | [Triploidy: prompt diagnosis based on typical clinical signs in a live-born extremely low birth-weight infant]. | A child with complete triploidy is rarely born alive. However, owing to the advances in perinatal medicine even extremely immature preterm infants receive full support in the delivery room and are admitted to the neonatal ICU. Consequently, the clinician may also have to consider the diagnosis of triploidy when faced w... |
2,337,214 | Strategies for the engineered phytoremediation of toxic element pollution: mercury and arsenic. | Plants have many natural properties that make them ideally suited to clean up polluted soil, water, and air, in a process called phytoremediation. We are in the early stages of testing genetic engineering-based phytoremediation strategies for elemental pollutants like mercury and arsenic using the model plant Arabidops... |
2,337,215 | Use of SSR markers to complement tests of distinctiveness, uniformity, and stability (DUS) of pepper (Capsicum annuum L.) varieties. | This study was carried out to assess the potential of SSR markers for variety identification by comparing SSR markers and morphological traits in tests of distinctiveness, uniformity, and stability (DUS) of pepper (Capsicum annuum L.) varieties. Twenty-seven SSR markers were polymorphic in 66 pepper varieties, revealin... |
2,337,216 | Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population. | Previous data have shown an association between DNA sequence variants in the IRF6 gene and an increased risk of non-syndromic cleft lip with or without cleft palate (CL/P) in some populations.</AbstractText>To investigate Thai CL/P patients and relative for a 820G-->A polymorphism.</AbstractText>192 CL/P Thai patien... |
2,337,217 | Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. | Börjeson-Forssman-Lehmann syndrome (BFLS; MIM 301900) is an infrequently described X linked disorder caused by mutations in PHF6, a novel zinc finger gene of unknown function.</AbstractText>To present the results of mutation screening in individuals referred for PHF6 testing and discuss the value of prior X-inacti... |
2,337,218 | Molecular epidemiology of simian immunodeficiency virus SIVsm in U.S. primate centers unravels the origin of SIVmac and SIVstm. | Retrospective molecular epidemiology was performed on samples from four sooty mangabey (SM) colonies in the United States to characterize simian immunodeficiency virus SIVsm diversity in SMs and to trace virus circulation among different primate centers (PCs) over the past 30 years. The following SIVsm sequences were c... |
2,337,219 | Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia. | To analyze the mutational spectrum of steroid 21-hydroxylase (CYP21) and the genotype- phenotype correlation in patients with congenital adrenal hyperplasia (CAH) registered in the Middle European Society for Pediatric Endocrinology CAH database, and to design a reliable and rational approach for CYP21 mutation detecti... |
2,337,220 | Beware of multiple comparisons: a study of symptoms associated with mutations of the HFE hemochromatosis gene. | Studies involving a large number of comparisons have a high likelihood of finding statistically significant associations by chance alone (Type 1 error). Genetic association studies are particularly prone to this pitfall. We tested the effect of multiple comparisons in a study of symptoms among subjects genotyped for mu... |
2,337,221 | An intronic variant in the TP53 gene in a Brazilian woman with breast cancer. | We screened the TP53 gene for mutational status in 40 breast tumor cases by polymerase chain reaction, single-strand conformational polymorphism, and gene sequencing. Many mutations of this gene have been described in specific databases. In our study, a new T-->C point mutation was identified in intron 6 at position... |
2,337,222 | Expression of Rac3 in human brain tumors. | Rac3 may play an important role in tumor growth but little is known about its expression and mutation in human tumor tissues. We examined the expression of Rac3 using RT-PCR and mutation of the Rac3 gene by DNA sequencing. Overexpression of the Rac3 gene occurred in 19% (5/26) of brain tumors; 3 of 9 (33%) meningiomas,... |
2,337,223 | A genetic screen in Caenorhabditis elegans for dopamine neuron insensitivity to 6-hydroxydopamine identifies dopamine transporter mutants impacting transporter biosynthesis and trafficking. | The presynaptic dopamine (DA) transporter (DAT) is a major determinant of synaptic DA inactivation, an important target for psychostimulants including cocaine and amphetamine, and a mediator of DA neuron vulnerability to the neurotoxins 6-hydroxydopamine (6-OHDA) and 1-methyl-4-phenylpyridinium ion. To exploit genetic ... |
2,337,224 | BRCA patients and clinical collectives: new configurations of action in cancer genetics practices. | Since the late 1980s, in France and in a number of other countries, cancer genetics testing has become a clinical reality, particularly for hereditary breast and ovarian cancer. BRCA tests allowing for the assessment of an increased cancer risk among patients and their healthy relatives are now being routinely performe... |
2,337,225 | Architectures of genetic medicine: comparing genetic testing for breast cancer in the USA and the UK. | This paper compares the development of genetic testing for breast cancer (BRCA testing) in the USA and the UK. It argues that national political cultures played an important role in how these genetic testing technologies were shaped, and that the shapes of these technologies had important implications for the users of ... |
2,337,226 | Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer patients. | Hereditary nonpolyposis colon cancer is caused by mutations in DNA mismatch repair genes, predominantly MLH1 and MSH2. Classic MLH1 mutations cause an approximately 20-fold increase in colorectal cancer susceptibility. Recently, we identified a hypomorphic allele, MLH1 D132H , which impairs, but does not completely eli... |
2,337,227 | [Survival factors in the treatment of hereditary retinal degeneration]. | Hereditary retinal degeneration is characterized by apoptotic photoreceptor loss, a process governed by intricate molecular interplay and initiated when proapoptotic signals predominate in the individual cell. Identification of molecules involved and their actions has paved the way for testing the ones with anti-apopto... |
2,337,228 | The paraphilic and hypersexual disorders: an overview. | In this article, the first of a two-part series, the authors present reasons for considering the paraphilic and hypersexual disorders together and provide an overview of these disorders. The DSM-IV diagnostic criteria for paraphilias are reviewed, and proposed criteria for hypersexual disorders are presented. The quest... |
2,337,229 | Mre 11 p nuclease activity is dispensable for telomeric rapid deletion. | Telomeric rapid deletion (TRD) is an intrachromatid recombination process that truncates over-elongated telomeres to the genetically determined average telomere length. We have proposed that TRD is initiated by invasion of the 3' G-rich overhang into centromere-proximal telomere sequence, forming an intermediate that l... |
2,337,230 | New models and molecular markers in evaluation of developmental toxicity. | Mammalian and non-mammalian embryos and embryonic stem cells may be used as models in mechanistic studies and in testing embryotoxicity of compounds. In addition to conventional culture methods, genetic modifications and use of molecular markers offer significant advantages in mechanistic studies as well as in developi... |
2,337,231 | Endoscopic management of familial colonic neoplasia. | Heredity plays an important causative role in a large percentage of colorectal cancers. Clinical recognition of the hereditary polyposis syndromes, hereditary nonpolyposis colorectal cancer, and common familial colorectal cancer is essential because screening, surveillance, and treatment among affected individuals and ... |
2,337,232 | Challenges and opportunities for pathogen detection using DNA microarrays. | DNA microarrays offer the potential for simultaneous detection of many pathogens that are of interest to homeland security, public health, medicine, and veterinary diagnostics. These tools are best suited for detecting the presence or absence of genetic sequences characteristic of specific pathogens, but microarrays ar... |
2,337,233 | Testing for ecological and genetic Allee effects in the invasive shrub Senna didymobotrya (Fabaceae). | For an introduced plant species to become invasive, it must be able to reproduce even in initially small populations. We tested for Allee effects (reduced reproductive performance of individuals in small populations) in the nonclonal, buzz-pollinated shrub Senna didymobotrya in its invasive range in South Africa. The s... |
2,337,234 | Clinical implications of the breast cancer susceptibility genes BRCA1 and BRCA2. | Genetic testing for BRCA1 and BRCA2 mutations has become an important part of the practice of medical oncology and clinical genetics over the past decade. Increasing numbers of women are requesting a genetic test so that they may better understand their personal risks of breast and ovarian cancer, and so that they may ... |
2,337,235 | Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies. | The majority of cases of Charcot-Marie-Tooth type 1A (CMT1A) and of hereditary neuropathy with a liability to pressure palsies (HNPP) are the result of heterozygosity for the duplication or deletion of peripheral myelin protein 22 gene (PMP22) on 17p11.2. Southern blots, pulsed-field gel electrophoresis (PFGE), fluores... |
2,337,236 | [The Paris experience in preimplantation genetic diagnosis: evaluation after the first births]. | To report the birth of the first thirteen infants conceived after preimplantation genetic diagnosis (PGD) within the medical assistance federation of Paris.</AbstractText>Fifty-nine couples were enrolled between January 2000 and July 2001. They had a total of 71 oocyte pick-up cycles. The collected oocytes were insemin... |
2,337,237 | 21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease. | Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations in genes encoding the enzymes involved in one of the various steps of adrenal steroid synthesis. Steroid 21-hydroxylase deficiency (21-OHD) is responsible for over 95% of the 5 forms of CAH, and results due to enzymati... |
2,337,238 | [Contribution of genetic testing after diagnosis of hypocalcemia]. | Serum calcium is a fine-tuned biological value. In recent years, fundamental research and study of molecular anomalies causing certain hereditary diseases of phosphocalcium metabolism have greatly contributed to our knowledge of the factors involved in this regulation, from the embryogenesis of the parathyroid glands t... |
2,337,239 | Lessons from genes mutated in multiple endocrine neoplasia (MEN) syndromes. | Multiple endocrine neoplasia (MEN) types 1 and 2 syndromes are rare hereditary cancer syndromes expressing a variety of endocrine and non-endocrine neoplasias and lesions. The improving of both molecular and clinical genetics knowledge helps health care providers in the whole spectrum of the clinical managements of MEN... |
2,337,240 | Investigation of genetic heterogeneity in Mycobacterium tuberculosis isolates from tuberculosis patients using DNA fingerprinting. | DNA fingerprinting of Mycobacterium tuberculosis (MTB) based on IS6110 has been shown to be a powerful epidemiologic tool. Restriction enzyme analysis (REA) is a fingerprinting technique, which is used for differentiation and investigation of genetic diversity among mycobacterial species.</AbstractText>To investigating... |
2,337,241 | Insulin-like growth factor II and binding proteins 1 and 3 from second trimester human amniotic fluid are associated with infant birth weight. | The developing fetus begins to swallow amniotic fluid (AF) early in gestation, a process that results in ingestion of numerous growth factors. Our objectives were 2-fold: 1) to assess the concentration and distribution of insulin-like growth factor II (IGF II) and its binding proteins (BP) 1 and 3 in 2nd trimester amni... |
2,337,242 | Screening of an endothelial cDNA library identifies the C-terminal region of Nedd5 as a novel autoantigen in systemic lupus erythematosus with psychiatric manifestations. | Anti-endothelial-cell antibodies are associated with psychiatric manifestations in systemic lupus erythematosus (SLE). Our primary aim in this study was to seek and characterize molecules that behave as endothelial autoantigens in SLE patients with psychiatric manifestations. By screening a cDNA library from human umbi... |
2,337,243 | Amino-acid substitution in the disordered loop of blood group B-glycosyltransferase enzyme causes weak B phenotype. | Few studies have investigated the reaction kinetics and interactions with nucleotide donor and acceptor substrates of mutant human ABO glycosyltransferases. Previous work identified a B(w) allele featuring a 556G>A polymorphism giving rise to a weak B phenotype. This polymorphism is predicted to cause a M186V amino-... |
2,337,244 | Characterization of the alloreactive helper T-cell response to the platelet membrane glycoprotein IIIa (integrin-beta3) in human platelet antigen-1a alloimmunized human platelet antigen-1b1b women. | The aims were to characterize the helper T-cell response to platelet (PLT) glycoprotein (GP) IIIa, which stimulates the alloimmune antibody response to human PLT antigen (HPA)-1a, to identify immunodominant epitopes and to examine the HLA Class II associations.</AbstractText>Peripheral blood mononuclear cells (PBMNCs) ... |
2,337,245 | Screening of Chlamydia trachomatis urogenital infections among the male and female population of the Republic of Macedonia. | Noninvasive urine screening for Chlamydia trachomatis infections offers a valuable public health tool, that could be of vast importance in Chlamydia control programs.</AbstractText>The goal was to determine the prevalence of C. trachomatis infections among a sexually active population, to define the epidemiological fac... |
2,337,246 | Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease. | We previously reported a linkage region on chromosome 1p (LOD = 3.41) for genes controlling age at onset (AAO) in Parkinson disease (PD). This region overlaps with the previously reported PARK10 locus. To identify the gene(s) associated with AAO and risk of PD in this region, we first applied a genomic convergence appr... |
2,337,247 | [A case of attenuated familial adenomatous polyposis coli (AFAP)]. | We describe an asymptomatic female patient who was diagnosed with multiple tubular and tubulovillous adenomas in the right-sided colon on routine colonoscopy at the age of 59 years. Genetic testing identified a germline truncating mutation at codon 405 (R405X) of the adenomatous polyposis coli (APC) gene. This mutation... |
2,337,248 | A phenotype without spasticity in sacsin-related ataxia. | The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid r... |
2,337,249 | CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. | CACNA1A encodes CaV2.1, the pore-forming subunit of P/Q-type voltage-gated calcium channel complexes. Mutations in CACNA1A cause a wide range of neurologic disturbances variably associated with cerebellar degeneration. Functional studies to date focus on electrophysiologic defects that do not adequately explain the phe... |
2,337,250 | MRS of oligodendroglial tumors: correlation with histopathology and genetic subtypes. | Oligodendroglial neoplasms with combined loss of chromosomes 1p and 19q may have a good prognosis and respond to procarbazine-lomustine (CCNU)-vincristine (PCV) chemotherapy.</AbstractText>To determine whether single voxel magnetic resonance spectroscopy (SV-MRS) obtained through routine clinical practice distinguishes... |
2,337,251 | Selective chromosome analysis in couples with two or more miscarriages: case-control study. | To identify additional factors, such as maternal age or factors related to previous reproductive outcome or family history, and the corresponding probability of carrying a chromosome abnormality in couples with two or more miscarriages.</AbstractText>Nested case-control study.</AbstractText>Six centres for clinical gen... |
2,337,252 | [Development of EST (Expressed Sequence Tags) Marker in Chinese Cabbage and its Transferability to Repeseed.]. | 28 pairs of primers were designed according to the expressed sequence tags in Chinese cabbage. After testing on the annealing temperature and the concentration of primer, dNTP and MgCl2, a suitable PCR system was established. Under the condition of reaction system developed, primers designed specific to ESTs were scree... |
2,337,253 | Genetic and antigenic characterization of the surface lipoprotein P48 of Mycoplasma bovis. | The presence of a membrane lipoprotein homologous to the P48 of Mycoplasma agalactiae was investigated in different Mycoplasma bovis isolates selected by geographical locations and biological properties. Its potential as a diagnostic tool was also discussed. The presence of a specific signal observed in all M. bovis fi... |
2,337,254 | Testing of amplified fragment length polymorphism (AFLP) technique as a tool for molecular epidemiology of Trichinella nativa. | A total of nine Trichinella nativa isolates were compared by amplified fragment length polymorphism (AFLP). Four hundred nanograms of genomic DNA from a pool of 10--20 larvae were digested using HindIII and MseI restriction endonucleases. Of the 16 primer combinations initially tested, Hind-C and Mse-C primers showed r... |
2,337,255 | Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases. | We previously reported a linkage region on chromosome 10q for age-at-onset (AAO) of Alzheimer (AD) and Parkinson (PD) diseases. Glutathione S-transferase, omega-1 (GSTO1) and the adjacent gene GSTO2, located in this linkage region, were then reported to associate with AAO of AD and PD. To examine whether GSTO1 and GSTO... |
2,337,256 | [Polymorphism of X-STR loci DXS7108 and DXS1196 in the Northern Polish population]. | This paper describes results of a population study of two X-linked STR microsatellite markers: DXS7108 and DXS1196. 298 samples of DNA of unrelated persons (male and female) from the Northern part of Poland were analyzed. DNA was isolated using a non-enzymatic method. After amplification PCR products were separated by ... |
2,337,257 | Origin of the Eumetazoa: testing ecological predictions of molecular clocks against the Proterozoic fossil record. | Molecular clocks have the potential to shed light on the timing of early metazoan divergences, but differing algorithms and calibration points yield conspicuously discordant results. We argue here that competing molecular clock hypotheses should be testable in the fossil record, on the principle that fundamentally new ... |
2,337,258 | Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women. | To evaluate the frequency and distribution of BRCA1 and BRCA2 mutations in a cohort of young women with breast cancer and to compare the distribution of mutations as a function of race.</AbstractText>After IRB approved informed consent, 170 white women and 30 African American women with known breast cancer diagnosed at... |
2,337,259 | Inter-individual susceptibility to environmental toxicants--a current assessment. | Virtually all diseases have an environmental component. The two most important factors affecting your unique risk of an environmental disease (toxicity or cancer) are (a) your exposure to the environmental agent and (b) your genes. Epidemiologists have found ways to calculate inter-individual risk--if the exposure to e... |
2,337,260 | Differential immunogenicity of HLA mismatches in clinical transplantation. | Although HLA matching is beneficial in clinical transplantation, it is not feasible to select a completely HLA matched donor for every potential recipient because of the enormous polymorphism of the HLA system. As a consequence, the majority of the recipients will be transplanted with a mismatched donor organ or hemato... |
2,337,261 | Identification of a new allele, HLA-DRB1*1366*. | High-resolution polymerase chain reaction sequence-specific primer typing of the human leucocyte antigen (HLA)-DRB1 gene of an Italian patient candidate for bone marrow transplantation revealed a new allelic variant of HLA-DRB1*13. The sequence was named DRB1*1366, and comparison with previously described DRB1 alleles ... |
2,337,262 | The variation of the novel allele HLA-B*0739 suggests low alloreactivity when mismatched with HLA-B*0702. | We here report the identification of a new HLA-B*07 allele in a male Caucasian. The new allele was initially typed as B*0713 by sequence-specific primed PCR. Because of the infrequence of that allele, a sequencing-based typing was performed to confirm that result. This yielded the detection of the novel allele. It is c... |
2,337,263 | Four new HLA class I alleles in Cauacasoids. | Four new HLA classical class I alleles in the three loci are described in Caucasian individuals. A*3012 was first suspected by an abnormal serologic pattern that would be explained by the single amino acid substitution at the A30-specific Ser17. B*270505 differs from B*270502 in a silent substitution at an up to now co... |
2,337,264 | HLA genes in Portugal inferred from sequence-based typing: in the crossroad between Europe and Africa. | The human leukocyte antigen-A (HLA-A), -B and -DRB1 polymorphism was examined in the Portuguese population, discriminating between North, Centre and South inhabitants. All data were obtained at high-resolution level, using sequence-based typing. The most frequent allele at each locus was A* 020101 (26%), B* 440301 and ... |
2,337,265 | Cross-population analysis of the growth of long bones and the os coxae of three Early Medieval Austrian populations. | Inter-population variability in long-bone and pelvic-bone growth during the Early Medieval period is examined. The materials comprise four archaeological populations: two Slavonic (Gars-Thunau, Zwentendorf, Austria, 10th-century AD), one Avar (Zwölfaxing, Austria, 8th-century AD), and one Anglo-Saxon (Raunds, Engl... |
2,337,266 | Use of tissue recombination to predict phenotypes of transgenic mouse models of prostate carcinoma. | Transgenic mouse models of cancer represent a powerful approach for exploring disease processes and testing potential therapeutic interventions. Currently, it is difficult to predict if a specific genetic manipulation will result in a desirable phenotype. The present study tests the idea that tissue recombinants recapi... |
2,337,267 | Seven Lotus japonicus genes required for transcriptional reprogramming of the root during fungal and bacterial symbiosis. | A combined genetic and transcriptome analysis was performed to study the molecular basis of the arbuscular mycorrhiza (AM) symbiosis. By testing the AM phenotype of nodulation-impaired mutants and complementation analysis, we defined seven Lotus japonicus common symbiosis genes (SYMRK, CASTOR, POLLUX, SYM3, SYM6, SYM15... |
2,337,268 | Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. | To localize and identify the gene and mutations causing autosomal recessive retinitis pigmentosa in three consanguineous Pakistani families.</AbstractText>Blood samples were collected and DNA was extracted. A genome-wide scan was performed by using 382 polymorphic microsatellite markers on genomic DNA from affected and... |
2,337,269 | Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. | We report a novel 1 bp deletion (c.1834delC) in the MCT8 gene in a large Brazilian family with Allan-Herndon-Dudley syndrome (AHDS), an X linked condition characterised by severe mental retardation and neurological dysfunction. The c.1834delC segregates with the disease in this family and it was not present in 100 cont... |
2,337,270 | Staphylococcal tetracycline-MLSB resistance plasmid pSTE2 is the product of an RSA-mediated in vivo recombination. | The complete nucleotide sequence of the 6913 bp plasmid pSTE2 from Staphylococcus lentus, which mediates inducible resistance to tetracyclines, macrolides and lincosamides, was determined. The plasmid was analysed for potential reading frames and structural features to gain insight into its development from potential a... |
2,337,271 | Global gene mining and the pharmaceutical industry. | Worldwide efforts are ongoing in optimizing medical treatment by searching for the right medicine at the right dose for the individual. Metabolism is regulated by polymorphisms, which may be tested by relatively simple SNP analysis, however requiring DNA from the test individuals. Target genes for the efficiency of a g... |
2,337,272 | Possibilities and pitfalls for modern biotechnology in the development of African genetic toxicology. | Developing countries are currently going through a transitional phase facing the new challenges of globalization and its potential negative impact. Research policy should highlight the need to mobilize resources for human resource development, networking, improved research culture, information sharing, and pragmatic us... |
2,337,273 | Novel genes controlling ventral cord asymmetry and navigation of pioneer axons in C. elegans. | The ventral cord in C. elegans is the major longitudinal axon tract containing essential components of the motor circuit. In genetic screens using transgenic animals expressing neuron specific GFP reporters, we identified twelve genes required for the correct outgrowth of interneuron axons of the motor circuit. In muta... |
2,337,274 | Evaluation of the ability of a battery of three in vitro genotoxicity tests to discriminate rodent carcinogens and non-carcinogens I. Sensitivity, specificity and relative predictivity. | The performance of a battery of three of the most commonly used in vitro genotoxicity tests--Ames+mouse lymphoma assay (MLA)+in vitro micronucleus (MN) or chromosomal aberrations (CA) test--has been evaluated for its ability to discriminate rodent carcinogens and non-carcinogens, from a large database of over 700 chemi... |
2,337,275 | Association of the osteoprotegerin gene polymorphisms with bone mineral density in postmenopausal women. | Osteoprotegerin (OPG) is a recently discovered member of the tumour necrosis factor receptor superfamily. It plays a crucial role in the control of bone resorption and its gene could therefore be a good candidate gene for osteoporosis. The aim of our work was to find polymorphisms in the OPG gene and to investigate the... |
2,337,276 | Retroviral expression screening of oncogenes in natural killer cell leukemia. | Aggressive natural killer cell leukemia (ANKL) is an intractable malignancy that is characterized by the outgrowth of NK cells. To identify transforming genes in ANKL, we constructed a retroviral cDNA expression library from an ANKL cell line KHYG-1. Infection of 3T3 cells with recombinant retroviruses yielded 33 trans... |
2,337,277 | Hereditary breast cancer growth rates and its impact on screening policy. | Imaging is often performed yearly for the surveillance of BRCA1/2 mutation carriers and women at high familial breast cancer risk. Growth of cancers in carriers may be faster as these tumours are predominantly high grade. Quantitative data on tumour growth rates in these 2 groups are lacking. Here, we have examined 80 ... |
2,337,278 | Genetic data for the 13 CODIS STR loci in Singapore Chinese. | Allele frequencies for the 13 CODIS STR loci included in the AmpFISTR Profiler Plus and AmpFISTR Cofiler kits (Applied Biosystems, Foster City, USA) were determined in a sample of 209 unrelated Chinese in Singapore. The combined random match probability for the 13 loci is about 6.6 x10(-15) and the overall probability ... |
2,337,279 | [Developing and testing a method of in silico identification and characterization of meiotic DNA]. | A method of in silico search for specific repetitive DNA sequences related to the synaptonemal complex (meiDNA) in mammalian genomes was developed. A study of the distribution of these repeats over chromosomes revealed their scarcity on the Y chromosome and a decrease in recombination frequency in regions enriched in m... |
2,337,280 | The pharmacogenetics of asthma: an update. | Responses to the three major classes of asthma therapy, beta-agonists, leukotriene antagonists and inhaled corticosteroids, demonstrate wide inter-individual variability. Moreover, both asthma and the traits measured in response to asthma therapy, including forced expiratory volume at 1 s, are highly heritable. This in... |
2,337,281 | Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents. | The medical literature provides little information on manifestations of hereditary hemorrhagic telangiectasia (HHT) in children. The presented investigation was initiated to analyze early presenting symptoms in HHT, which should help to make the diagnosis at a young age and thus prevent potential complications from occ... |
2,337,282 | Assignment of sockeye salmon (Oncorhynchus nerka) to spawning sites using DNA markers. | Randomly amplified polymorphic DNA (RAPD) markers were used to assign individual adult sockeye salmon to their spawning sites using a genotype assignment test. Six primers were selected for use by screening bulked DNA samples for markers missing in fish from one or more of 5 sites in British Columbia or Alaska. Of 73 m... |
2,337,283 | Molecular biomarkers and adaptation to environmental stress in moon jelly (Aurelia spp.). | We describe a strategy that identifies molecular biomarkers and links the study of abiotic stress to evolutionary history. By utilizing the moon jellyfish Aurelia spp. as a model, we identified genes differentially regulated in response to the chemical stressor tributyltin by means of complementary DNA subtraction anal... |
2,337,284 | Specific detection of Flt3 point mutations by highly sensitive real-time polymerase chain reaction in acute myeloid leukemia. | Among activating class III receptor tyrosine kinase (Flt3) mutations, internal tandem duplications of Flt3 (Flt3-ITD) are detected in about 25% of patients with acute myeloid leukemia (AML). In contrast, mutations within the tyrosine kinase domain of Flt3 (Flt3-TKD mutations) are less frequent (approximately 7%), and t... |
2,337,285 | Environmental versus genetic risk factors for irritable bowel syndrome: clinical and therapeutic implications. | The pathogenesis of irritable bowel syndrome (IBS) has traditionally been based on the biopsychosocial model that emphasizes that the symptom manifestations of IBS and consulting behavior are influenced at least in part by psychological processes. However, there has been increasing interest in trying to identify and un... |
2,337,286 | Clinical implications of t(11;14)(q13;q32), t(4;14)(p16.3;q32), and -17p13 in myeloma patients treated with high-dose therapy. | Fluorescence in situ hybridization (FISH) is more sensitive than conventional cytogenetics for recognizing chromosomal changes. Several FISH-detected abnormalities have been associated with inferior prognosis, including deletion of chromosomes 17 and 13 (Delta13) and t(4;14)(p16.3;q32). We analyzed the prognostic value... |
2,337,287 | Association of death receptor 4 haplotype 626C-683C with an increased breast cancer risk. | Dysregulation of apoptosis plays a crucial role in carcinogenesis. Tumour necrosis factor-related apoptosis-inducing ligand stimulates the extrinsic apoptotic pathway by binding to death receptor 4 (DR4). Thus, genetic alterations within the candidate tumour suppressor gene DR4 would be expected to provoke a deficient ... |
2,337,288 | CD14 C-159T and early infection with Pseudomonas aeruginosa in children with cystic fibrosis. | Early acquisition of Pseudomonas aeruginosa is associated with a poorer prognosis in patients with cystic fibrosis. We investigated whether polymorphisms in CD14, the lipopolysaccharide receptor, increase the risk of early infection. Forty-five children with cystic fibrosis were investigated with annual bronchoalveolar... |
2,337,289 | Memory deficits correlating with acetylcholinesterase splice shift and amyloid burden in doubly transgenic mice. | Current mouse models of Alzheimer's disease show brain pathology that correlates to a degree with memory impairment, but underlying molecular mechanisms remained unknown. Here we report studies with three lines of transgenic mice: animals that doubly express mutated human amyloid precursor protein (APPswe) and human ac... |
2,337,290 | Telomeres, telomerase and malignant transformation. | Human cancer arises in a stepwise process by the accumulation of genetic alterations in oncogenes, tumor suppressor genes and other genes involved in the regulation of cell growth and proliferation. Many genes, important for the pathogenesis of various cancers and the pathways through which they act, have been characte... |
2,337,291 | Character of HBV (hepatitis B virus) polymerase gene rtM204V/I and rtL180M mutation in patients with lamivudine resistance. | To investigate the relationship between HBV (hepatitis B virus) polymerase gene 180 and 204 sites mutation and lamivudine resistance.</AbstractText>One hundred forty-one patients with lamivudine resistance after lamivudine treatment and 60 chronic hepatitis B patients without lamivudine treatment were enrolled in this ... |
2,337,292 | [Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)]. | The bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia. The incidence varies with regard to ethnical background, sex, and phenotypic expression, and an incidence of... |
2,337,293 | Genetics of leptin and obesity: a HuGE review. | Leptin is an important regulator of the mass of adipose tissue and of body weight; it operates by inhibiting food intake and stimulating energy expenditure. Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP A19G), the leptin receptor gene (LEPR Q223R, K109R, and K656N), and the peroxisome... |
2,337,294 | Object detection via feature synthesis using MDL-based genetic programming. | In this paper, we use genetic programming (GP) to synthesize composite operators and composite features from combinations of primitive operations and primitive features for object detection. The motivation for using GP is to overcome the human experts' limitations of focusing only on conventional combinations of primit... |
2,337,295 | Science, law, and politics in the Food and Drug Administration's genetically engineered foods policy: FDA's 1992 policy statement. | The US Food and Drug Administration's (FDA's) 1992 policy statement was developed in the context of critical gaps in scientific knowledge concerning the compositional effects of genetic transformation and severe limitations in methods for safety testing. FDA acknowledged that pleiotropy and insertional mutagenesis may ... |
2,337,296 | Using genomewide mutagenesis screens to identify the genes required for neural tube closure in the mouse. | Neural tube closure is a critical embryological process that requires the coordination of many molecular and cellular events. Only recently has the molecular basis of the cell movements that drive neural tube closure begun to be elucidated. This has been accomplished in part due to the analysis of a growing number of g... |
2,337,297 | Abortion attitudes of pregnant women in prenatal care. | This study was undertaken to describe abortion attitudes in a diverse cohort of pregnant women enrolled in prenatal care.</AbstractText>A cross-sectional interview study of 1082 demographically diverse gravid women enrolled in prenatal care at less than 20 weeks' gestation was performed.</AbstractText>Most participants... |
2,337,298 | Cost-effectiveness analysis of prenatal population-based fragile X carrier screening. | To investigate the cost-effectiveness of a widespread prenatal population-based fragile X carrier screening program.</AbstractText>A decision tree was designed comparing screening versus not screening for the fragile X mental retardation protein 1 premutation in all pregnant women. Baseline values included a prevalence... |
2,337,299 | 'At the point at which you can do something about it, then it becomes more relevant': informed consent in the pharmacogenetic clinic. | Sociological investigation of informed consent has generated rich and complex descriptions of the clinical encounter, often challenging the straightforward picture painted by medical ethicists. This paper builds on this work, drawing on ideas from the Sociology of Science and Technology, to explore informed consent iss... |
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