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2,336,300 | Laboratory testing for the antibodies that cause heparin-induced thrombocytopenia: how much class do we need? | Heparin-induced thrombocytopenia (HIT) is usually caused by platelet-activating antibodies of immunoglobulin G class that recognize platelet factor-4 (PF4) bound to heparin or certain other polyanions. Commercial enzyme immunoassays (EIAs) for PF4/polyanion-reactive antibodies detect two immunoglobulin classes (IgA and... |
2,336,301 | Rapid, accurate genotyping of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 based on the use of denaturing HPLC. | The genotypes of alcohol dehydrogenase-1B (ADH1B) and aldehyde dehydrogenase-2 (ALDH2) are related to alcohol dependence and some human disorders. Rapid, accurate genotyping methodologies for specific polymorphisms of these two genes are needed for molecular screening and testing of alcohol-related problems in populati... |
2,336,302 | Speeding up a genetic algorithm for EPR-based spin label characterization of biosystem complexity. | Complexity of biological systems is one of the toughest problems for any experimental technique. Complex biochemical composition and a variety of biophysical interactions governing the evolution of a state of a biological system imply that the experimental response of the system would be superimposed of many different ... |
2,336,303 | Australian attitudes to DNA sample banks and genetic screening. | An exploration via an anonymous questionnaire of Australian public attitudes towards medical genetics and sample banking revealed the overwhelming majority views these developments with thoughtful confidence. Continued public education and awareness of these issues will allow the public to make informed decisions and e... |
2,336,304 | Novel mutations in the cytochrome P450 2C19 gene: a pitfall of the PCR-RFLP method for identifying a common mutation. | CYP2C19 is a clinically important enzyme involved in the metabolism of therapeutic drugs such as (S)-mephenytoin, omeprazole, proguanil, and diazepam. Individuals can be characterized as either extensive metabolizers (EM) or poor metabolizers (PM) on the basis of CYP2C19 enzyme activity. The PM phenotype occurs in 2-5%... |
2,336,305 | Attenuation of simian immunodeficiency virus SIVmac239 infection by prophylactic immunization with dna and recombinant adenoviral vaccine vectors expressing Gag. | The prophylactic efficacy of DNA and replication-incompetent adenovirus serotype 5 (Ad5) vaccine vectors expressing simian immunodeficiency virus (SIV) Gag was examined in rhesus macaques using an SIVmac239 challenge. Cohorts of either Mamu-A*01(+) or Mamu-A*01(-) macaques were immunized with a DNA prime-Ad5 boost regi... |
2,336,306 | Testing "species pair" hypotheses: evolutionary processes in the lichen-forming species complex Porpidia flavocoerulescens and Porpidia melinodes. | Pairs of taxa are commonly found in lichen-forming ascomycetes that differ primarily in their reproductive modes: one taxon reproduces sexually, the other vegetatively. The evolutionary processes underlying such "species pairs" are unknown. The species pair formed by Porpidia flavocoerulescens (sexual) and Porpidia mel... |
2,336,307 | Using the PRACTICE mnemonic to apply cultural competency to genetics in medical education and patient care. | Medical education curricula increasingly are incorporating courses on cultural competency and skills development in working with ethnically diverse patient populations as well as courses on genetics and genomics. The authors support these efforts and believe the next step is integration of genetics into cultural compet... |
2,336,308 | Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation. | Mutations in the NF1 gene (17q11.2) cause neurofibromatosis type 1 (NF1), a pleiotropic and progressive autosomal dominant disorder with marked variability of clinical expression. Clinical diagnosis is usually readily achieved in most adult and adolescent patients due to the presence of at least two of the classic sign... |
2,336,309 | HLA-A and HLA-B allele frequencies in a mestizo population from Guadalajara, Mexico, determined by sequence-based typing. | HLA-A and HLA-B genes were typed by DNA sequencing in a mestizo population from Guadalajara, Jalisco, Mexico. Thirty-seven HLA-A and 51 HLA-B alleles were observed in 103 samples. The common typical Amerindian alleles (>5%) and haplotypes (>or=2.0%) found were A*02010101, *24020101, *310102, B*350101, and *4002, ... |
2,336,310 | Lipid carriers for gene therapy. | A wide variety of lipid molecules used as gene carriers has been reported and compared over the last twenty years. This review highlights a few examples of mechanistic analysis applied to the study of lipid carriers. The modular nature of the lipid structure offers itself up to a controlled, systematic analysis. Key to... |
2,336,311 | DNA analysis of ingested tomato and pepper seeds.<Pagination><StartPage>330</StartPage><EndPage>333</EndPage><MedlinePgn>330-3</MedlinePgn></Pagination><Abstract><AbstractText>Ingested food is one of the important types of forensic evidence obtained during a medicolegal autopsy. Many materials containing seeds pass thr... | Ingested food is one of the important types of forensic evidence obtained during a medicolegal autopsy. Many materials containing seeds pass through the human digestive system and are still recognizable; thus, they can be valuable for providing investigative leads. Currently, the identification of seeds relies on micro... |
2,336,312 | Detecting periodic patterns in unevenly spaced gene expression time series using Lomb-Scargle periodograms. | Periodic patterns in time series resulting from biological experiments are of great interest. The commonly used Fast Fourier Transform (FFT) algorithm is applicable only when data are evenly spaced and when no values are missing, which is not always the case in high-throughput measurements. The choice of statistic to e... |
2,336,313 | New insights into juvenile parotitis. | We inquired about the possibility of a familial trend in juvenile parotitis and evaluated the role of SPINK1 mutations in juvenile parotitis.</AbstractText>The clinical records of all children admitted to the Helsinki University Hospital during 1995 to May 2003 because of swelling in the parotid gland were reviewed. A ... |
2,336,314 | Chromosomal phylogeny of Robertsonian races of the house mouse on the island of Madeira: testing between alternative mutational processes. | The ancestral karyotype of the house mouse (Mus musculus) consists of 40 acrocentric chromosomes, but numerous races exist within the domesticus subspecies characterized by different metacentric chromosomes formed by the joining at the centromere of two acrocentrics. An exemplary case is present on the island of Madeir... |
2,336,315 | Acute graft versus host disease after liver transplantation: patterns of lymphocyte chimerism. | The diagnosis of acute graft versus host disease (aGVHD) following liver transplantation can be difficult, since many of the clinical signs can be caused by drug reactions or viral infections. To establish criteria for the persistence of donor T-cells versus engraftment, we measured donor T-cells by short tandem repeat... |
2,336,316 | Association between screening family medical history in general medical care and lower burden of cancer worry among women with a close family history of breast cancer. | Soliciting family medical history (FMH) is the initial step in the process of screening for heritable cancer risk in medical care. We investigate whether recent solicitation of FMH in general medical care is associated with cancer worry among a sample of women having a first-degree relative with a breast cancer diagnos... |
2,336,317 | Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent. | This study determines the analytic accuracy of a Luminex bead-based commercial analyte-specific reagent for the simultaneous analysis of 30 mutations prevalent in Ashkenazi Jews at eight genetic disease loci.</AbstractText>DNA from 20 samples with known abnormal genotypes were run a total of 109 times. DNA from 820 pat... |
2,336,318 | Tay Sachs disease carrier screening in schools: educational alternatives and cheekbrush sampling. | Tay Sachs disease carrier screening programs have been offered successfully worldwide since 1970. The programs typically offer education, testing, and counseling to provide reproductive choices. One such program has been offered to Jewish school students in Melbourne since 1998. In a time of increasing public awareness... |
2,336,319 | Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories. | We evaluated the experiences of 19 Italian laboratories concerning 241 small supernumerary marker chromosomes (sSMCs) with the aim of answering questions arising from their origin from any chromosome, their variable size and genetic content, and their impact on the carrier's phenotype.</AbstractText>Conventional protoc... |
2,336,320 | Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. | This study determines which clinical features predict positive test results among samples submitted for DNA-based diagnostic nevoid basal cell carcinoma syndrome (NBCCS) testing, and further defines the mutational spectrum of the PTCH gene.</AbstractText>DNA was extracted from peripheral blood leukocytes, and polymeras... |
2,336,321 | Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem. | The objective of this study was to assess knowledge of genetics and awareness of genetic tests among Dutch general practitioners (GPs), gynecologists (GYNs), and pediatricians (PEDs), as well as factors influencing their knowledge and awareness.</AbstractText>An anonymous questionnaire inquiry was used, validated with ... |
2,336,322 | Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. | Defects of mitochondrial DNA (mtDNA) maintenance have recently been associated with inherited neurodegenerative and muscle diseases and the aging process. Twinkle is a nuclear-encoded mtDNA helicase, dominant mutations of which cause adult-onset progressive external ophthalmoplegia (PEO) with multiple mtDNA deletions. ... |
2,336,323 | Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests. | Spinal muscular atrophy (SMA) is a recessive neurodegenerative disorder characterized by the loss of alpha-motor neurons in the spinal cord and subsequent death of motor neuron cells. SMA occurs with a frequency of 1 in 6,000 live births, with a carrier frequency of 1 in 40, and is a leading genetic cause of infant mor... |
2,336,324 | Testing of a whole genome PCR scanning approach to identify genomic variability in four different species of lactic acid bacteria. | Genomes can be markedly heterogeneous in conspecific bacterial strains. Genome sequences can be used to analyze genome plasticity via a PCR(2) (plasticity of chromosome revealed by PCR) approach. Small-sized chromosomes can indeed be fully amplified by long-range PCR with a set of primers designed using a reference str... |
2,336,325 | Genetic differentiation among geographic populations of Gonatocerus ashmeadi, the predominant egg parasitoid of the glassy-winged sharpshooter, Homalodisca coagulata. | The aim of genetically comparing different populations of the same species of natural enemies is to identify the strain that is most adapted to the environment where it will be released. In the present study, Inter-Simple Sequence Repeat-Polymerase Chain Reaction (ISSR-PCR) was utilized to estimate the population genet... |
2,336,326 | Retroviral insertional mutagenesis: past, present and future. | Retroviral insertion mutagenesis screens in mice are powerful tools for efficient identification of oncogenic mutations in an in vivo setting. Many oncogenes identified in these screens have also been shown to play a causal role in the development of human cancers. Sequencing and annotation of the mouse genome, along w... |
2,336,327 | Estimating the "effective number of codons": the Wright way of determining codon homozygosity leads to superior estimates. | In 1990, Frank Wright introduced a method for measuring synonymous codon usage bias in a gene by estimation of the "effective number of codons," N(c). Several attempts have been made recently to improve Wright's estimate of N(c), but the methods that work in cases where a gene encodes a protein not containing all amino... |
2,336,328 | Nano-carriers for DNA delivery to the lung based upon a TAT-derived peptide covalently coupled to PEG-PEI. | Gene therapy aimed at the respiratory epithelium holds therapeutic potential for diseases such as cystic fibrosis and lung cancer. Polyethylenimine (PEI) has been utilized for gene delivery to the airways. In this study, we describe a new modification of PEI, in which an oligopeptide related to the protein transduction... |
2,336,329 | Genetic testing for colon cancer among African-Americans in North Carolina. | To describe attitudes and correlates of intention to take a genetic test for colon cancer in a population-based sample of African-Americans.</AbstractText>African-Americans (n = 658), age 18-70, in North Carolina completed an 11-page questionnaire between June-October 2003 that assessed attitudes (familiarity, perceive... |
2,336,330 | Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene. | Genetic testing of Duchenne and Becker muscular dystrophies (DMD/BMD) is a difficult task due to the occurrence of deletions or duplications within dystrophin (DMD) gene that requires dose sensitive tests. We developed three multiplex quantitative real-time PCR assays for dystrophin exon 5, 45, and 51 within two major ... |
2,336,331 | The bcl-2/IgH rearrangement in a population of 204 healthy individuals: occurrence, age and gender distribution, breakpoints, and detection method validity. | This study assessed prevalence, frequency, age and gender distribution and breakpoint locations, and detection method validity for the bcl-2/IgH rearrangement in 204 healthy individuals. For this purpose, both classic two-step, nested, semi-quantitative PCR as well as a newly established sequence-specific, hybridizatio... |
2,336,332 | Interleukin (IL)-2 and IL-12 responses to Chlamydia trachomatis infection in adolescents. | Chlamydia trachomatis infects epithelial cells at the mucosal surface. While in vitro and animal studies have shown changes in mucosal T(H)1-associated cytokines in the presence of C. trachomatis infection and with its progression to the upper genital tract or clearance, in vivo cytokine responses to chlamydial infecti... |
2,336,333 | Translating RNA interference into therapies for human disease. | RNA interference (RNAi) represents one of the most promising new frontiers in drug discovery. Breakthroughs in understanding RNA's extensive natural role in essential cellular processes have opened up the potential for a whole new class of drugs based on RNAi. Harnessing the natural process of RNAi, short, double-stran... |
2,336,334 | Pharmacogenomics and drug development. | It is generally anticipated that pharmacogenomic information will have a large impact on drug development and will facilitate individualized drug treatment. However, there has been relatively little quantitative modeling to assess how pharmacogenomic information could be best utilized in clinical practice. Using a quan... |
2,336,335 | Hemophilia: a practical approach to genetic testing. | Hemophilia and von Willebrand disease together account for the large majority of congenital bleeding disorders. Contemporary management, including development of safer clotting factor concentrates and increased emphasis on long-term follow-up in comprehensive hemophilia centers, has improved both quality of life and lo... |
2,336,336 | Multipoint linkage disequilibrium mapping using case-control designs. | Case-control study has been and continues to be one of the most popular designs in epidemiology. More recently, this design has been adopted to test for candidate genes when searching for disease genetic etiology. In this report, we present a multipoint linkage disequilibrium (LD) mapping approach with the focus on est... |
2,336,337 | Application of bovine microsatellite markers for genetic diversity analysis of Swiss yak (Poephagus grunniens). | In order to assess the applicability of bovine microsatellite markers for population genetic studies in Swiss yak, 131 bovine microsatellite markers were tested on a panel of 10 animals. Efficient amplification was observed for 124 markers (94.6%) with a total of 476 alleles, of which 117 markers (94.3%) were polymorph... |
2,336,338 | Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia. | Lungs are the central organ affected and targeted by Mycobacterium tuberculosis and immune processes in the lung are of critical importance in the pathogenesis of tuberculosis. A major lung defense against invading pathogens is provided by surfactant protein A, a multi-chain protein encoded by the SFTPA1 and SFTPA2 gen... |
2,336,339 | An unexpected Cowden syndrome case found among members of a large familial adenomatous polyposis kindred. | Genetic testing is now considered the standard of care in the management of familial adenomatous polyposis (FAP). Non-carriers of mutations are excluded from endoscopic surveillance. During the systematic screening of the relatives of an affected member with FAP, one non-carrier of APC mutations was unexpectedly found ... |
2,336,340 | Predisposing HLA-DQ2 and HLA-DQ8 haplotypes of coeliac disease and associated enteropathy in microscopic colitis. | To assess the presence of both genetic and serological markers of coeliac disease in patients with microscopic colitis, and whether there was associated enteropathy.</AbstractText>HLA-DQ2, HLA-DQ8, serum immunoglobulin A-antiendomysial and immunoglobulin A-anti-tissue transglutaminase antibodies were investigated in 59... |
2,336,341 | Rapid disease progression correlates with instability of mutant SOD1 in familial ALS. | Studies on the clinical course of familial ALS suggest that the duration of illness is relatively consistent for each mutation but variable among the different mutations. The authors analyzed the relative amount of mutant compared with normal SOD1 protein in the erythrocytes from 29 patients with ALS with 22 different ... |
2,336,342 | DNA sequence analysis of the genetic environment of various blaCTX-M genes. | Over a 3 year period (2000-2003) 21 Escherichia coli, 5 Klebsiella pneumoniae, 1 Serratia marcescens and 1 Proteus mirabilis producing CTX-M-type beta-lactamase were collected from five different hospitals in Paris, France. This study was conducted to analyse the genetic environment of these 28 bla(CTX-M) genes.</Abstr... |
2,336,343 | Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. | The fatty acid oxidation disorder most commonly identified by tandem mass spectrometry newborn screening is the potentially fatal medium-chain acyl-CoA dehydrogenase deficiency (MCAD). In clinically presenting cases, 80% are homozygous for the common mutation, c.985A > G and 18% heterozygous. We screened 592,785 bab... |
2,336,344 | Testing of primers for the study of cyanobacterial molecular diversity by DGGE. | Denaturing Gradient Gel electrophoresis (DGGE) is a PCR-based technique which is widely used in the study of microbial communities. Here, the use of the three specific 16S rRNA cyanobacterial specific primers CYA359F, CYA781R(a) and CYA781R(b) on the assessment of the molecular diversity of cyanobacterial communities i... |
2,336,345 | On being at higher risk: a qualitative study of prenatal screening for chromosomal anomalies. | This paper explores the meaning of higher risk status to women undergoing prenatal maternal screening for chromosomal anomalies. Quotations from lightly structured interviews and transcripts of pre-screening consultations in suburban London are used to illustrate pregnant women's diverse responses to the offer of scree... |
2,336,346 | Dietary flavonoids: effects on xenobiotic and carcinogen metabolism. | Flavonoids are present in fruits, vegetables and beverages derived from plants (tea, red wine), and in many dietary supplements or herbal remedies including Ginkgo Biloba, Soy Isoflavones, and Milk Thistle. Flavonoids have been described as health-promoting, disease-preventing dietary supplements, and have activity as ... |
2,336,347 | Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy. | In children with a myopathy, muscle biopsy, together with the clinical presentation, can guide further investigations. The presence of centrally located nuclei suggests a myotubular myopathy, and gene testing may confirm this diagnosis. We describe a male child with a mild form of X-linked myotubular myopathy for which... |
2,336,348 | Classification of microarray data with factor mixture models. | The classification of few tissue samples on a very large number of genes represents a non-standard problem in statistics but a usual one in microarray expression data analysis. In fact, the dimension of the feature space (the number of genes) is typically much greater than the number of tissues. We consider high-densit... |
2,336,349 | Fluorescence in situ hybridization for detecting transitional cell carcinoma: implications for clinical practice. | To determine the diagnostic sensitivity of genetic studies using fluorescence in situ hybridization (FISH) for detecting both new and recurrent cases of transitional cell carcinoma (TCC) in a routine clinical practice setting, as bladder cancer has a significant risk of recurrence and progression to invasive disease an... |
2,336,350 | The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations. | Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder that occurs in an increased frequency in the Ashkenazi Jewish (AJ) population. The frequency of the disease in this population has been established by the testing of 66,749 AJ subjects in the Dor Yeshorim program, a unique premarital populat... |
2,336,351 | Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. | Mutations in the transmembrane channel-like gene 1 (TMC1) cause prelingual autosomal recessive (DFNB7/11) and postlingual progressive autosomal dominant (DFNA36) nonsyndromic hearing loss. To determine the genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in the northeast and east of Turkey, 65 u... |
2,336,352 | High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. | Germline mutations in the STK11 gene have been identified in 10-70% of patients with Peutz-Jeghers syndrome (PJS), an autosomal-dominant hamartomatous polyposis syndrome. A second locus was assumed in a large proportion of PJS patients. To date, STK11 alterations comprise mainly point mutations; only a small number of ... |
2,336,353 | A panel of 20 highly variable microsatellite polymorphisms in rhesus macaques (Macaca mulatta) selected for pedigree or population genetic analysis. | This paper reports 20 new microsatellite loci that are highly polymorphic in rhesus macaques (Macaca mulatta). We screened known human microsatellite loci to identify markers that are polymorphic in rhesus macaques, and then selected specific loci that show substantial levels of heterozygosity and robust, reliable ampl... |
2,336,354 | Multiplexed microsatellites for rapid identification and characterization of individuals and populations of Cercopithecidae. | Cross-amplification of 15 human microsatellites was performed successfully in cynomolgus (Macaca fascicularis) and rhesus (M. mulatta) macaques and 11 other Cercopithecidae species of biomedical and conservation relevance. To allow for quick, efficient, and high-throughput genotyping to assess intra- and interspecific ... |
2,336,355 | Macrophage migration inhibitory factor promotes intestinal tumorigenesis. | <AbstractText Label="BACKGROUND & AIMS" NlmCategory="OBJECTIVE">The cytokine macrophage migration inhibitory factor (MIF) is expressed throughout the human gastrointestinal tract. Recently, protumorigenic activity of MIF has been described in several cancer models. Therefore, we investigated the expression and func... |
2,336,356 | MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. | <AbstractText Label="BACKGROUND & AIMS" NlmCategory="OBJECTIVE">Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by heterozygous germline sequence mutations of DNA mismatch repair genes, most frequently MLH1 or MSH2. A novel molecular mechanism for HNPCC has recently been suggested by the finding of indi... |
2,336,357 | Bioethics, sport and the genetically enhanced athlete. | This paper begins by acknowledging the interest taken by various international organisations in genetic enhancement and sport, including the US President's Council on Bioethics (July, 2002) and the World Anti-Doping Agency (March, 2002). It is noticed how sporting organisations have been particularly concerned to empha... |
2,336,358 | Ethical perspectives on life sciences research after mapping the human genome. | The essay discusses ethical perspectives of life sciences research that can help us navigate a path across the genetic landscape that opens before us with the map of the human genome that was announced recently. We can rightly anticipate many drug discoveries and genetic therapies to cure, prevent, or alleviate devasta... |
2,336,359 | Molloy v. Meier. | Court Decision: 660 North Western Reporter, 2d Series 444; 2003 May 6 (date of decision). The Minnesota Court of Appeals, held that physicians consulted by a mother regarding the genetic condition of her child must advise her pursuant to the appropriate standard.. Kimberly Molloy consulted with defendant physicians abo... |
2,336,360 | BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. | It is believed that BRCA1 and BRCA2 germline mutations account for the majority of hereditary ovarian carcinomas; however, to the authors' knowledge, there are scant data on the prevalence and spectrum of mutations, genotype/phenotype correlations, tumor histology, and family history characteristics. To address this ga... |
2,336,361 | Bioengineering lactic acid bacteria to secrete the HIV-1 virucide cyanovirin. | An urgent need exists to prevent the sexual transmission of HIV-1. With prevalence rates exceeding 35% in parts of sub-Saharan Africa, increasing attention has been placed on developing and testing microbicidal agents capable of preventing virus transmission at mucosal sites. HIV-1 microbicides must meet several requir... |
2,336,362 | Evolutionarily conserved domains required for activation and repression functions of the Drosophila Hox protein Ultrabithorax. | While testing the functions of deletion mutants in the Hox protein Ultrabithorax (Ubx), we found that the embryonic repression function of Ubx on Distal-less transcription in limb primordia is highly concentration dependent. The steep sigmoidal relationship between in vivo Ubx concentration and Distal-less repression i... |
2,336,363 | Testing for adaptive evolution of the female reproductive protein ZPC in mammals, birds and fishes reveals problems with the M7-M8 likelihood ratio test. | Adaptive evolution appears to be a common feature of reproductive proteins across a very wide range of organisms. A promising way of addressing the evolutionary forces responsible for this general phenomenon is to test for adaptive evolution in the same gene but among groups of species, which differ in their reproducti... |
2,336,364 | An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. | Hereditary multiple osteochondromas (MO) is an autosomal dominant bone disorder characterized by the presence of bony outgrowths (osteochondromas or exostoses) on the long bones. MO is caused by mutations in the EXT1 or EXT2 genes, which encode glycosyltransferases implicated in heparan sulfate biosynthesis. Standard m... |
2,336,365 | Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. | Approximately one in 2000 children is born with a genetic hearing impairment, mostly inherited as a non-syndromic, autosomal recessive trait, for which more than 30 different genes have been identified. Previous studies have shown that one of these genes, connexin 26 (GJB2), accounts for 30-60% of such deafness, but th... |
2,336,366 | Loss of heterozygosity testing using real-time PCR analysis of single nucleotide polymorphisms. | Colon cancer is a genetic disease, caused by mutations in different oncogenes and tumor-suppressor genes. The aim of this study is to evaluate the usefulness of real-time PCR SNP analysis as a new technique in the loss of heterozygosity (LOH) analysis at the E-cadherin gene locus in sporadic colon cancer.</AbstractText... |
2,336,367 | Advances in X-linked mental retardation. | Mutations in genes on the X chromosome rival chromosome aberrations as a cause of mental retardation. Progress in the clinical and molecular delineation of X-linked mental retardation has outpaced progress in understanding autosomal mental retardation. This is a result in large part of the identification of large famil... |
2,336,368 | The use of genetic testing in the evaluation of hearing impairment in a child. | To review the role of genetic testing in the evaluation of hearing impairment in children.</AbstractText>The introduction of genetic testing has greatly enhanced the evaluation of deafness and hearing impairment in children. It can save time and money as well as providing patients, their families, and their physicians ... |
2,336,369 | Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids. | Mutations in the GJB2 gene (connexin 26) are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. Genetic testing of GJB2 may offer opportunities to predict the features of hearing loss and prognostication of speech-language development in children with hearing loss. The present study a... |
2,336,370 | [Identification of response element gene sequence for non-steroid hormone transcription factors for the activation and up-regulation of L-plastin expression in prostate cancer]. | To search and identify the non-steroid receptor binding cis-acting elements in the L-plastin promoter in prostate cancer, and the correlative regulation pathway and transcription factors.</AbstractText>On the basis of construction of the L-plastin promoter luciferase vectors which were removed the steroid hormone recep... |
2,336,371 | A simple in vivo approach to investigate invasive trophoblast cells. | Intrauterine trophoblast cell invasion is an essential part of hemochorial placentation. Aberrant trophoblast cell invasion has been associated with pathologies including preeclampsia and fetal growth restriction. In this study, we describe an in vivo method to assess trophoblast cell invasion using a transgenic rat mo... |
2,336,372 | Triazine-based tyrosinase inhibitors identified by chemical genetic screening. | As most of the available depigmenting agents exhibit only modest activity and some exhibit toxicities that lead to adverse side effects after long-term usage, there remains a need for novel depigmenting agents. Chemical genetic screening was performed on cultured melanocytes to identify novel depigmenting compounds. By... |
2,336,373 | Pregnancy outcomes in women with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | Despite earlier detection, treatment, and surgical advances, fertility prognosis in women with classical 21-hydroxylase deficiency (21-OHD) is still low, especially in the salt-wasting (SW) form.</AbstractText>We analysed the course and outcome of four pregnancies in two simple virilizing (SV) and one SW patient.</Abst... |
2,336,374 | A statistical framework for haplotype block inference. | The existence of haplotype blocks transmitted from parents to offspring has been suggested recently. This has created an interest in the inference of the block structure and length. The motivation is that haplotype blocks that are characterized well will make it relatively easier to quickly map all the genes carrying h... |
2,336,375 | No incidence of DUMPS carriers in Polish dairy cattle. | DUMPS (Deficiency of Uridine Monophosphate Synthase) is a hereditary recessive disorder in Holstein cattle causing early embryo mortality during its implantation in the uterus. The only way to avoid the economic losses is early detection of DUMPS carriers. Because American Holstein semen has been intensively imported t... |
2,336,376 | Rye SCAR markers for male fertility restoration in the P cytoplasm are also applicable to marker-assisted selection in the C cytoplasm. | The study aimed at testing the usefulness of recently developed SCAR markers on rye (Secale cereale L.) chromosome 4R in hybrid breeding based on the C source of male sterility-inducing cytoplasm. Of 10 markers studied, 4 revealed polymorphisms between 2 inbred lines (544cms-C and Ot0-20) crossed to develop F2 and BC1 ... |
2,336,377 | Microarray-based pncA genotyping of pyrazinamide-resistant strains of Mycobacterium tuberculosis. | Drug-resistant Mycobacterium tuberculosis poses a significant threat to the treatment of tuberculosis (TB). The current susceptibility testing for the first-line TB drug pyrazinamide (PZA) is not only time-consuming but also difficult, due to the requirement for acid pH for drug activity. Predominantly, resistance to P... |
2,336,378 | Tumour gene expression from C12 spermine amphiphile gene delivery systems. | Gene therapy requires safe and efficient gene delivery systems. Towards this aim both the gene formulation and tumour transfection ability of C12 spermine amphiphiles were tested. Five amphiphiles were synthesised and characterised: 1-[N,N-bis(3-aminopropyl)-1,4-butane diamine] dodecane (12G0--a C12 spermine amphiphile... |
2,336,379 | The impact of HLA-DRB1 genes on extra-articular disease manifestations in rheumatoid arthritis. | The objective of this study was to examine HLA-DRB1 and HLA-DQB1 genotypes in patients with severe extra-articular rheumatoid arthritis (ExRA) and to compare them with the genotypes of rheumatoid arthritis (RA) patients without extra-articular manifestations. Patients with severe ExRA were recruited from a large resear... |
2,336,380 | Microsatellite polymorphism in Japanese mongrel dogs. | The genetic variability of 182 unrelated mongrel dogs living in various areas of Japan (from Hokkaido to Okinawa) was studied by collecting their blood. Ten microsatellite loci were chosen from different autosomal chromosomes. After combining a few rare adjoining alleles to allelic classes, it was confirmed that the Ha... |
2,336,381 | Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. | Absence of the corpus callosum is often associated with cognitive deficits, autism, and epilepsy. Using a genomic microarray, the authors analyzed DNA from 25 patients with radiographically confirmed callosal anomalies and identified three patients with de novo copy number changes in chromosome regions 2q37, 6qter, and... |
2,336,382 | A woman with spontaneous premature ovarian failure gives birth to a child with fragile X syndrome. | To inform clinicians about a reproductive risk associated with spontaneous premature ovarian failure and the fragile X mental retardation 1 gene (FMR1).</AbstractText>Case report.</AbstractText>National Institutes of Health Clinical Center.</AbstractText><AbstractText Label="PATIENT(S)" NlmCategory="METHODS">A 35-year-... |
2,336,383 | Genetic polymorphisms and multifactorial diseases: facts and fallacies revealed by the glucocorticoid receptor gene. | In recent years enormous progress in determining the sequence of the human genome has led to a rapid development of research into polymorphisms in genes involved in complex diseases. It is clear, however, that there are important limitations in many of these association studies. Problems with reliable and reproducible ... |
2,336,384 | [Cancer genetic predisposition: current events and perspectives 2005]. | Studies performed during these last twenty years have had a major impact on the understanding of carcinogenesis. They have opened a new field : cancer genetic predisposition. At the present time, most of the cancer predispositions linked to the alteration of one gene, associated with a high risk of cancer and with a sp... |
2,336,385 | [Predictive testing: presymptomatic diagnosis in neurogenetic disorders]. | Presymptomatic testing is available since 15 years for Huntington disease and it is now possible for a number of other neurogenetic disorders, mostly neurodegenerative disorders. The possibility of determining the genetic status of an at-risk person for the disorder which run in his family raises questions because of t... |
2,336,386 | PGD patients' and providers' attitudes to the use and regulation of preimplantation genetic diagnosis. | Preimplantation genetic diagnosis (PGD) providers and patients have a vested interest in policy related to the use and regulation of PGD. To understand their experiences and attitudes, 32 in-depth interviews were conducted. Participants included 13 people at risk of transmitting a single-gene alteration to their childr... |
2,336,387 | Spatial genetic structure of two HIV-I-resistant polymorphisms (CCR2-64 I and SDF1-3'A) alleles in population of Shandong Province, China. | To explore the spatial genetic structure of two HIV-I-resistant polymorphisms (CCR2-64 I and SDF1-3'A) alleles in the population of Shandong Province, China.</AbstractText>Using the techniques of spatial stratified sampling and spatial statistics, the spatial genetic structure of the locus (CCR2-64 I and SDF1-3'A), whi... |
2,336,388 | [Cystic fibrosis (CF) of adults--current problem of laryngologists. The role of genetic research]. | The goal of this work is to evaluate DNA in the direction of gene mutation in the patients with nasal polyps and/or recurring inflammation of the sinuses, and who tested negative for allergic basis of those ailments.</AbstractText>50 patients aged 20-45 have been included in the research by the University Hospital and ... |
2,336,389 | Behçet's disease and hereditary periodic fever syndromes: casual association or causal relationship? | Mutations in the MEFV and the type 1 TNF receptor (TNFRSF 1A) genes have recently been linked to familial Mediterranean fever (FMF) and TNF receptor-associated periodic syndrome (TRAPS), respectively. A higher prevalence of Behçet's disease (BD) among FMF patients has been described compared to the general populat... |
2,336,390 | Analytical verification of a PCR assay for identification of Bordetella avium. | Bordetella avium is the etiologic agent of turkey coryza or bordetellosis, a respiratory disease responsible for substantial economic losses to the turkey industry. At present, identification of this bacterium relies on isolation and biochemical testing. Although a PCR for the detection of B. avium was proposed a numbe... |
2,336,391 | Mutagenic and cytotoxic effect of planifolin: a naphthopyranone dimer isolated from Paepalanthus planifolius. | A naphthopyranone dimer, named planifolin, was isolated from a methylene chloride extract of the capitula of Paepalanthus planifolius Koern. The molecule (C(31)H(26)O(10)) appeared to be made up of two monomeric portions, semi-vioxanthin and paepalantine (an isocoumarin), linked by an ether bond, and it may possess sev... |
2,336,392 | HLA genes in Madeira Island (Portugal) inferred from sequence-based typing: footprints from different origins. | Human leukocyte antigen (HLA)-A, HLA-B, and HLA-DRB1 polymorphisms were examined in Madeira Island populations. The data was obtained at high-resolution level, using sequence-based typing (SBT). The most frequent alleles at each loci were: A*020101 (24.6%), B*5101 (9.7%), B*440201 (9.2%), and DRB1*070101 (15.7%). The p... |
2,336,393 | Detection of known haemophilia B mutations and carrier testing by microarray. | The molecular basis of haemophilia B is heterogeneous and many mutations of the Factor IX (FIX) gene have been characterised. Using the allele-specific arrayed primer extension (AS-APEX) technology, we have designed a FIX array to simultaneously analyse 69 mutations found in British, Thai and Chinese patients. This tec... |
2,336,394 | Ethical issues and policy analysis for genetic testing: Huntington's disease as a paradigm for diseases with a late onset. | This paper discusses the main ethical issues that arise when testing for genetic diseases with a late adult onset, such as Huntington's disease, take place. It is imperative to study genetic testing for HD and similar diseases because of the potential to influence future medical advances and the growing number of indiv... |
2,336,395 | Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain. | To investigate the prevalence and penetrance of hMSH6 mutations in Spanish HNPCC families that was negative for mutation in hMLH1 or hMSH2.</AbstractText>We used PCR-based DGGE assay and direct sequencing to screen for hMSH6 gene in 91 HNPCC families.</AbstractText>we have identified 10 families with germ-line mutation... |
2,336,396 | Global transcriptional profiling of Shewanella oneidensis MR-1 during Cr(VI) and U(VI) reduction. | Whole-genome DNA microarrays were used to examine the gene expression profile of Shewanella oneidensis MR-1 during U(VI) and Cr(VI) reduction. The same control, cells pregrown with nitrate and incubated with no electron acceptor, was used for the two time points considered and for both metals. U(VI)-reducing conditions... |
2,336,397 | Ethical considerations in presymptomatic testing for variant CJD. | Variant Creutzfeldt-Jakob disease (vCJD) is a fatal, transmissible, neurodegenerative disorder for which there is currently no effective treatment. vCJD arose from the zoonotic spread of bovine spongiform encephalopathy. There is now compelling evidence for human to human transmission through blood transfusions from pr... |
2,336,398 | Parental consent for newborn screening in southern Taiwan. | With the advent of genetic technologies, many genetic/metabolic disorders can be detected asymptomatically but might be untreatable, and the benefits and risks of screening for them are not fully known. The purpose of this study is to explore current practice with regard to the parental consent process in newborn scree... |
2,336,399 | Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis. | Large deletions of the factorVIII gene account for approximately 5% of severe haemophilia A patients. Although deletions are readily detectable in males, the identification of heterozygosity in possible carriers of these families still constitutes a challenge. In order to identify a deleted allele over the background o... |
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