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2,339,900 | Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma. | Causative gain-of-function mutations of the RET tyrosine-kinase receptor gene have been reported in more than 95% of inherited cases of medullary thyroid carcinoma (MTC; OMIM# 155240). Most RET activating mutations are clustered in mutational "hot spots" in exons 10, 11, 13, 14, 15 and 16 and are usually detected by si... |
2,339,901 | [Effect of bovine serum albumin and restriction enzyme on quality of DNA profile of tissues extracted from paraffin blocks and histological slides]. | This paper reports the possibility of DNA profiling obtained from fixed and paraffin-embedded tissues or histological slides. The influence of using bovine serum albumin and restriction enzyme Hinfl on quality of DNA was analysed. The usability of those chemicals was estimated by examination of amplification results lo... |
2,339,902 | Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma. | A case study with review of surgical technique in craniovertebral stabilization for young children with mucopolysaccharidosis.</AbstractText>To describe an interesting patient with a rare metabolic disorder and review surgical technique for craniovertebral instability in this rare patient population.</AbstractText>Cran... |
2,339,903 | Nucleic acid amplification strategies for DNA microarray-based pathogen detection. | DNA microarray-based screening and diagnostic technologies have long promised comprehensive testing capabilities. However, the potential of these powerful tools has been limited by front-end target-specific nucleic acid amplification. Despite the sensitivity and specificity associated with PCR amplification, the inhere... |
2,339,904 | Adrenocortical hypertension. | Primary aldosteronism, congenital adrenal hyperplasia, Cushing's syndrome, glucocorticoid-remediable aldosteronism, and corticotropin-dependent forms of adrenal pathology can cause hypertension by excessive production of adrenocortical hormones. Although traditional biochemical assays continue to be used, genetic testi... |
2,339,905 | Recent developments in ovarian cancer genetics. | This review attempts to provide an update on recent research on inherited susceptibility to ovarian cancer. It covers articles mainly published in 2002 and 2003, with an emphasis on genetic counseling issues.</AbstractText>The major areas on which recent reports have focused include: (1) an expanded understanding of th... |
2,339,906 | Screening for differential gene expression during the development of form-deprivation myopia in the chicken. | To use the technique of differential gene display to analyze changes in gene expression that occur during the development of and recovery from form-deprivation myopia.</AbstractText>The differential display-reverse transcriptase-polymerase chain reaction technique was used to detect cDNAs that are differentially expres... |
2,339,907 | Genetic polymorphisms of CYP1A1 in a Korean population. | Genetic polymorphisms in the coding exons of the CYP1A1 gene were analyzed in 100 Koreans. Three types of CYP1A1 polymorphisms, specifically G134A, G184C and A2455G, were identified with allelic frequencies of 18, 3, and 16%, respectively, and no linkage was observed among them. The novel G184C polymorphism identified ... |
2,339,908 | Preimplantation HLA testing. | Preimplantation genetic diagnosis (PGD) has become an option for couples for whom termination of an affected pregnancy identified by traditional prenatal diagnosis is unacceptable and is applicable to indications beyond those of prenatal diagnosis, such as HLA matching to affected siblings to provide stem cell transpla... |
2,339,909 | Nucleotide variation and recombination along the fourth chromosome in Drosophila simulans. | The fourth chromosome of Drosophila melanogaster and its sister species are believed to be nonrecombining and have been a model system for testing predictions of the effects of selection on linked, neutral variation. We recently examined nucleotide variation along the chromosome of D. melanogaster and revealed that a l... |
2,339,910 | Mitochondrial encephalomyopathies: diagnostic approach. | Mitochondrial diseases have extremely heterogeneous clinical presentations due to the ubiquitous nature of mitochondria and the dual genetic control of the respiratory chain. Thus, mitochondrial disorders can be multisystemic (mitochondrial encephalomyopathies) or confined to a single tissue, and they can be sporadic o... |
2,339,911 | Prenatal testing and pregnancy termination in Sri Lanka: views of medical students and doctors. | Prenatal diagnosis and pregnancy termination generate complex ethical issues. Surveys conducted in Sri Lanka among doctors and medical students in 1986 supported a change in law in favour of pregnancy termination when gross genetic defects are detected antenatally. A new generation of prenatal tests has focused attenti... |
2,339,912 | An improved formulation of marker heterozygosity in recurrent selection and backcross schemes. | This report presents a theoretical formulation for predicting heterozygosity of a putative marker locus linked to two quantitative trait loci (QTL) in a recurrent selection and backcross (RSB) scheme. Since the heterozygosity at any given marker locus maintained in such a breeding programme reflects its map location re... |
2,339,913 | Population subdivision and the Hudson-Kreitman-Aguade test: testing for deviations from the neutral model in organelle genomes. | The Hudson-Kreitman-Aguade (HKA) test is based on the prediction from the neutral theory that levels of polymorphism within a species and the divergence between two closely related species should be correlated. Population subdivision has been shown to alter both the amounts of polymorphism segregating within species an... |
2,339,914 | Isolation and characterization of dinucleotide repeat microsatellites in Drosophila ananassae. | Drosophila ananassae is a cosmopolitan species with a geographic range throughout most of the tropical and subtropical regions of the world. Previous studies of DNA sequence polymorphism in three genes has shown evidence of selection affecting broad expanses of the genome in regions with low rates of recombination in g... |
2,339,915 | Korean version of the diagnostic interview for genetic studies: Validity and reliability. | The Diagnostic Interview for Genetic Studies (DIGS), developed in 1994 by the National Institute of Mental Health (NIMH), was translated into Korean and tested for reliability and diagnostic validity. Concurrent validity was tested using the Structured Clinical Interview for DSM-IV (SCID) and clinical diagnoses in 53 p... |
2,339,916 | [From the conception of the PRINS to its coronation]. | As a non-isotopic molecular cytogenetic technique, the primed in situ (PRINS) labelling reaction represents a major technological progress achieved in the past decade. It has become a routine technique for the microscopic visualization of specific DNA sequences in cells and nuclei and constitutes a good alternative to ... |
2,339,917 | A random-periods model for expression of cell-cycle genes. | We propose a nonlinear regression model for quantitatively analyzing periodic gene expression in studies of experimentally synchronized cells. Our model accounts for the observed attenuation in cycle amplitude by a simple and biologically plausible mechanism. We represent the expression level for each gene as an averag... |
2,339,918 | Testing the chromosomal speciation hypothesis for humans and chimpanzees. | Fixed differences of chromosomal rearrangements between isolated populations may promote speciation by preventing between-population gene flow upon secondary contact, either because hybrids suffer from lowered fitness or, more likely, because recombination is reduced in rearranged chromosomal regions. This chromosomal ... |
2,339,919 | The relevance of gene transfer to the safety of food and feed derived from genetically modified (GM) plants. | In 2000, the thematic network ENTRANSFOOD was launched to assess four different topics that are all related to the testing or assessment of food containing or produced from genetically modified organisms (GMOs). Each of the topics was linked to a European Commission (EC)-funded large shared cost action (see http://www.... |
2,339,920 | Assessment of association between mitochondrial aldehyde dehydrogenase polymorphism and Alzheimer's disease in an older Korean population. | The mutant allele of mitochondrial aldehyde dehydrogenase (ALDH2(*)2) was found to be associated with Alzheimer's disease (AD) in a Japanese sample, interacting with the apolipoprotein E epsilon 4 allele (Apo E4).</AbstractText>In a community Korean population we sought to investigate associations between ALDH2 genotyp... |
2,339,921 | A haplotype of the methylenetetrahydrofolate reductase gene is protective against late-onset Alzheimer's disease. | Epidemiological studies have shown that elevated plasma homocysteine (Hcy) levels play an important role in the pathogenesis of Alzheimer's disease (AD). In spite of the evidence that a C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene elevates plasma Hcy levels, the impact of the C677T polymor... |
2,339,922 | DNA binding and antigene activity of a daunomycin-conjugated triplex-forming oligonucleotide targeting the P2 promoter of the human c-myc gene. | Triplex-forming oligonucleotides (TFO) that bind DNA in a sequence-specific manner might be used as selective repressors of gene expression and gene-targeted therapeutics. However, many factors, including instability of triple helical complexes in cells, limit the efficacy of this approach. In the present study, we tes... |
2,339,923 | Clinical germline genetic testing for melanoma. | Clinical genetic testing for mutations in CDKN2A (cyclin-dependent kinase inhibitor 2A), a melanoma susceptibility gene, is now available. The International Melanoma Genetics Consortium advocates that genetic testing for CDKN2A should be done only as part of a research protocol. Experience with genetic testing for othe... |
2,339,924 | Combination of porous hydroxyapatite and cationic liposomes as a vector for BMP-2 gene therapy. | The clinical significance of hydroxyapatite (HAP) as a bone substitute has become apparent in recent years and bone morphogenetic protein (BMP) a substance which induces bone has attracted much attention. In this study, a 1.2 cm diameter bone defects created on rabbit cranium were treated with the BMP-2 gene (cDNA plas... |
2,339,925 | A sequencing-based typing method for HLA-DQA1 alleles. | Sequencing-based typing (SBT) is the most comprehensive method for characterizing human leukocyte antigen gene polymorphisms. Development of a SBT method for DQA1 is hampered because of a deletion of codon 56 in nearly half of the known DQA1 alleles. Sequence electropherograms of heterozygous samples comprising a delet... |
2,339,926 | HLA class II typing in newborns reveals a low frequency of the DRB1*04 allele and a high frequency of DRB1*11 allele in three regions of continental Italy. | As part of a longitudinal study aimed at defining the natural history of prediabetic autoimmunity and predicting the risk of future cases of type 1 diabetes, 3607 newborns from three regions of continental Italy (Lombardia, Liguria, and Lazio) were subjected to genetic testing to determine human leukocyte antigen-DRB1 ... |
2,339,927 | Amyloid precursor protein gene analysis in familial Alzheimer's disease cases: a lack of mutations in exons 16 and 17. | The beta-amyloid precursor protein (APP) gene (on chromosome 21), Presenilin 1 (PS1) gene (on chromosome 14) and Presenilin 2 (PS2) gene (on chromosome 1) are responsible for autosomal dominant early-onset Alzheimer's disease (EOAD). Missense mutations in these genes cause abnormal APP processing with subsequent overpr... |
2,339,928 | The confluence of two clinical specialties: genetics and assisted reproductive technologies. | The confluence of genetic and reproductive technologies has significantly expanded the scope of available reproductive options. To ensure appropriate dissemination of information and timely referral for preconception counseling, nurses in all specialties must be aware of the clinical indications for advanced reproducti... |
2,339,929 | A brief history of the political work of genetics. | The biological sciences have long been used to define distinctions between people and to define inequalities as a natural consequence of essential biological traits. Today, geneticists draw distinctions on the basis of genetic predispositions. Their population-based methods can reinforce stereotypes about race and ethn... |
2,339,930 | Prenatal screening for birth defects: an update. | This article summarizes current second trimester prenatal screening methods, and describes recently developed first trimester screening tools. The advantages and potential pitfalls of first trimester screening are outlined. |
2,339,931 | The ethical, legal and psychosocial challenges of genetic testing: implications for primary medical care. | Recent advances in genetic information and technology have led to an explosion in molecular testing for mutations that cause human disease. Test results are likely to improve medical management and/or help individuals make important life and reproductive decisions. Unlike other laboratory testing, unique complexities a... |
2,339,932 | Genetic susceptibility to breast and ovarian cancer: risk assessment, genetic counseling, and management issues. | Genetic testing for disease susceptibility genes is available for a large number of genetic disorders. With the expected shortage of trained genetic professionals to offer risk assessment, counseling, testing, and management to patients, primary care physicians will be asked to provide these services. In this review, w... |
2,339,933 | Thiopurine methyltransferase activity influences clinical response to azathioprine in inflammatory bowel disease. | <AbstractText Label="BACKGROUND & AIMS" NlmCategory="OBJECTIVE">Genetic polymorphism in thiopurine methyltransferase (TPMT) activity may influence clinical responsiveness to azathioprine (AZA) therapy. Our aim was to determine if the measurement of erythrocyte TPMT enzyme activity could be used to optimize clinical... |
2,339,934 | Genetic and environmental factors influencing the human factor H plasma levels. | Factor H is a plasma protein that plays a critical role in the regulation of complement activation in fluid phase and on cellular surfaces. Over the years numerous reports have illustrated the association of factor H deficiencies with chronic renal and infectious diseases. Plasma levels of factor H show a five-fold ran... |
2,339,935 | High-resolution genetic mapping of Xa27(t), a new bacterial blight resistance gene in rice, Oryza sativa L. | Bacterial blight of rice, caused by Xanthomonas oryzae pv. oryzae ( Xoo) (Ishyama) Dye, is one of the serious diseases prevalent throughout Asia. In a previous study, a resistance ( R) locus was transferred from the tetraploid wild rice Oryza minuta to the cultivated rice species, Oryza sativa L. Here, we report the fi... |
2,339,936 | Class discovery and classification of tumor samples using mixture modeling of gene expression data--a unified approach. | The DNA microarray technology has been increasingly used in cancer research. In the literature, discovery of putative classes and classification to known classes based on gene expression data have been largely treated as separate problems. This paper offers a unified approach to class discovery and classification, whic... |
2,339,937 | Neonatal screening for glucose-6-phosphate dehydrogenase deficiency fails to detect heterozygote females. | We examined glucose-6-phosphate dehydrogenase (G6PD) deficiency in north-eastern Italian Caucasian neonates detected by neonatal screening, in order to measure the incidence of heterozygote females detected by neonatal screening, and to estimate the near-true total incidence. A total of 85,437 Caucasian neonates, born ... |
2,339,938 | Multiplex allele-specific PCR assay for differential diagnosis of Hb S, Hb D-Punjab and Hb Tak. | Apart from hemoglobin (Hb) E, Hb D-Punjab [beta121(GH4)Glu-Gln] and Hb Tak [beta147Term-Thr] are the two most common beta-chain variants among the Asian population. These two Hb variants have similar alkaline electrophoretic mobilities and HPLC profiles as those of the Hb S [beta6(A3)Glu-Val]. Differential diagnosis of... |
2,339,939 | Prenatal screening and the assessment of risk: the view from the other side. | Since the introduction, in 1984, of maternal serum screening for fetal aneuploidy, obstetrical practitioners and their patients have learned to cope with the challenges and limitations of risk estimation. In the instance where the "odds" are not entirely reassuring, the hazards of invasive, yet definitive, testing are ... |
2,339,940 | Anti-insulin activity in IgG-fractions from children with newly-diagnosed type 1 diabetes and negative for insulin autoantibodies. | Insulin autoantibodies (IAA) are often detected as the first humoral sign of beta-cell autoimmunity in prospective studies in young children with increased genetic risk of type 1 diabetes. After the appearance of IAA their level typically rise but seems to decline in many cases before the clinical presentation of type ... |
2,339,941 | A gel electrophoresis method for detection of mitochondrial DNA mutation (3243 tRNA(Leu (UUR))) applied to a Norwegian family with diabetes mellitus and hearing loss. | Blood cells of selected patients from a large Norwegian family with maternally transmitted diabetes mellitus, hearing loss and muscular dysfunction were screened for possible A3243G mutation tRNA(Leu (UUR)) in mitochondrial DNA. We selected 7 patients from 3 of the 4 generations of the family and 10 unrelated healthy c... |
2,339,942 | Cost-effectiveness in establishing hemophilia carrier detection and prenatal diagnosis services in a developing country with limited health resources. | The cost-effectiveness of carrier detection and prenatal diagnosis for hemophilia at the International Hemophilia Training Center, Bangkok, Thailand was studied. From 1991 to 2002, 209 females from 124 families with hemophilia A and B were included. There were 180 hemophilia A carriers and 29 hemophilia B carriers whic... |
2,339,943 | Actor-network theory: a tool to support ethical analysis of commercial genetic testing. | Social, ethical and policy analysis of the issues arising from gene patenting and commercial genetic testing is enhanced by the application of science and technology studies, and Actor-Network Theory (ANT) in particular. We suggest the potential for transferring ANT's flexible nature to an applied heuristic methodology... |
2,339,944 | Learning from the voiceless. | This article is concerned with understanding what is at stake in the everyday lives of family members facing Huntington's Disease (HD). The methodological and analytical point of departure is German critical psychology, particularly the category of conduct of everyday life (Holzkamp, 1995; Dreier, 1999). Specifically, ... |
2,339,945 | Genetic testing and primary care: a new ethic for a new setting. | For several decades, clinical geneticists have espoused two key ethical principles, nondirectiveness and confidentiality. These principles made a great deal of sense in the highly personal and controversial setting of reproductive genetics. Now that clinical genetics has entered the primary care setting, clinicians are... |
2,339,946 | Insurance companies' access to genetic information: why regulation alone is not enough. | The background of this paper is the ongoing dismantling of the social insurance systems in favour of commercialisation and privatisation of insurances needed for illness, old age and premature death. This combined with the increased possibility of using genetic testing for differentiating personal insurance premiums ha... |
2,339,947 | Differences in the frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene among the Lebanese population. | In view of its role in precipitating mild hyperhomocysteinemia as well as being a risk factor for vascular thrombosis, we investigated the frequency of the C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene among 589 healthy Lebanese subjects by PCR-RFLP analysis (HinfI digestion) and compared them ... |
2,339,948 | [Gitelman's syndrome--a differential diagnosis in hypokalemia]. | Gitelman's syndrome is a rare disease characterised by low levels of potassium and magnesium in the blood. It is caused by mutations in the gene encoding the thiazide-sensitive sodium chloride cotransporter in the distal collecting duct.</AbstractText>We present four patients (two brothers and two sisters) with Gitelma... |
2,339,949 | BRCA1 and sex ratio. | Two recent papers suggest distorted sex and transmission ratios associated with BRCA1 mutations. If real, these would provide novel insights into the normal biological function of this gene and have implications for genetic epidemiologic methods used to estimate penetrance. We addressed these observations in two settin... |
2,339,950 | The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening. | Thalassaemia is a good candidate disease for control by preventive genetic programmes in developing countries. Accurate population frequency data are needed for planning the control of thalassaemia in the high risk Guangdong Province of southern China.</AbstractText>In total, 13397 consecutive samples from five geograp... |
2,339,951 | HER-2 testing in breast cancer using parallel tissue-based methods. | Testing for HER-2 oncogene in breast cancer has increased because of its role as a prognostic and predictive factor. Some advocate gene testing by fluorescence in situ hybridization (FISH) vs protein testing by immunohistochemistry as the method which most accurately evaluates and predicts response to the anti-HER-2 an... |
2,339,952 | Familial aggregation of energy intake in children. | Uncompensated overnutrition promotes obesity, but the controls of children's eating behavior are poorly understood. Insights may be achieved by testing whether the eating patterns of children are associated with demographic variables or whether they aggregate among family members.</AbstractText>We tested whether childr... |
2,339,953 | Review article: Osteoporosis and inflammatory bowel disease. | Studies using dual-energy X-ray absorptiometry have suggested a high prevalence of osteoporosis in inflammatory bowel disease. However, population-based data on fracture incidence suggest only a small increased risk of fracture amongst patients with inflammatory bowel disease compared with the general population. There... |
2,339,954 | Classical phenotype of Laron syndrome in a girl with a heterozygous mutation and heterozygous polymorphism of the growth hormone receptor gene. | We describe here a 19 month-old girl with classical Laron syndrome (LS). Molecular analysis of the GH receptor gene in the patient and her parents was performed. The patient was found to be heterozygous for a mutation in exon 4 (R43X) and heterozygous for a polymorphism in exon 6 (Gly168Gly). Her mother was also hetero... |
2,339,955 | HLA-DQA1 and -DQB1 alleles in Latino and African American children with diabetes mellitus. | Few studies have described the genetics of childhood diabetes mellitus (DM) in US minorities. High-risk DQA1 and DQB1 alleles (DQA1*0301, DQB1*0201, and DQB1*0302 in African Americans and Latinos, and DQA1 *0501 in African Americans) were identified from previous studies and tested in 45 African American and 26 Latino ... |
2,339,956 | An unusual case of X-linked adrenoleukodystrophy with auditory processing difficulties as the first and sole clinical manifestation. | X-linked adrenoleukodystrophy (X-ALD) is characterized by demyelination that is associated with a deficient beta-oxidation of very long chain fatty acids. We report the unusual case of a male adult with X-ALD who was diagnosed at the age of 26 by a brain MRI performed because his brother had been diagnosed with a rapid... |
2,339,957 | Post-conviction DNA testing: the UK's first 'exoneration' case? | The routine incorporation of forensic DNA profiling into the criminal justice systems of the United Kingdom has been widely promoted as a device for improving the quality of investigative and prosecutorial processes. From its first uses in the 1980s, in cases of serious crime, to the now daily collection, analysis and ... |
2,339,958 | [Importance of genetic testing in couples with reproductive disorders]. | To determine the prevalence of chromosomal aberrations in infertile couples undergoing in vitro fertilization (IVF).</AbstractText>Cytogenetic analysis of peripheral blood lymphocytes in the group of patients undergoing IVF. Detection of chromosomal aberrations in the fetuses after IVF.</AbstractText>Department of Medi... |
2,339,959 | Can flies help humans treat neurodegenerative diseases? | Neurodegenerative diseases are becoming increasingly common as life expectancy increases. Recent years have seen tremendous progress in the identification of genes that cause these diseases. While mutations have been found and cellular processes defined that are altered in the disease state, the identification of treat... |
2,339,960 | Complex haplotypes of the PGC-1alpha gene are associated with carbohydrate metabolism and type 2 diabetes. | Peroxisome proliferator-activated receptor coactivator-1alpha (PGC-1alpha) is a transcriptional coactivator implicated in transcriptional programs of hepatic gluconeogenesis, oxidative phosphorylation, and insulin release by beta-cells. To study associations of the PGC-1alpha gene locus with carbohydrate metabolism and... |
2,339,961 | An oncologist-based model of cancer genetic counselling for hereditary breast and ovarian cancer. | We describe a multistep model of cancer genetic counselling designed to promote awareness, and disease surveillance and preventive measures for hereditary and familial breast and ovarian cancer.</AbstractText>Step T0 of the model entails information giving; this is followed by pedigree analysis and risk estimation (T1)... |
2,339,962 | A novel and accurate diagnostic test for human African trypanosomiasis. | Human African trypanosomiasis (sleeping sickness) affects up to half a million people every year in sub-Saharan Africa. Because current diagnostic tests for the disease have low accuracy, we sought to develop a novel test that can diagnose human African trypanosomiasis with high sensitivity and specificity.</AbstractTe... |
2,339,963 | Optimising clinical practice in cancer genetics with cultural competence: lessons to be learned from ethnographic research with Chinese-Australians. | Hereditary cancer is about families, and clinicians and genetic counsellors need to understand the cultural beliefs of patients and families about cancer and inheritance. In the light of their kinship patterns Chinese-Australians were chosen for the present study, which aims to determine the explanatory models of inher... |
2,339,964 | Integrating genetics as practices of primary care. | This study examines the responses of general practitioners (GPs) in Vic., Australia to an increased emphasis on genetics in primary care. A qualitative analysis of focus group interviews with GPs in regional and metropolitan areas and one focus group interview with genetics experts showed that despite the emphasis plac... |
2,339,965 | Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. | Phenotypic expression of the deafness-associated homoplasmic A1555G mutation in the mitochondrial 12S rRNA gene varies from profound congenital hearing loss to normal hearing. It has been shown that this variability in clinical expression in most patients is due to the complex inheritance of multiple nuclear-encoded mo... |
2,339,966 | Analysis of 16 Y STR loci in the Finnish population reveals a local reduction in the diversity of male lineages. | We analysed samples of 400 Finnish males using nine Y-chromosomal short tandem repeat (STR) loci (minimal haplotype); for 200 of these subjects an additional seven Y-chromosomal STR loci were used. The geographical distribution of the observed haplotypes was determined from 200 individuals of known paternal origin with... |
2,339,967 | A polymorphic locus in the intron 16 of the human angiotensin-converting enzyme (ACE) gene is not correlated with complex regional pain syndrome I (CRPS I). | Exaggerated neurogenic inflammation has been recognized to be one reason for many CRPS symptoms. Since angiotensin-converting enzyme (ACE) is a key enzyme for the termination of neurogenic inflammation, it has been selected as a candidate gene for CRPS predisposition. A previous report of an insertion/deletion (I/D) po... |
2,339,968 | Genetic study of a large Chinese kindred with von Hippel-Lindau disease. | Von Hippel-Lindau (VHL) disease is a heraditary cancer syndrome caused by germline mutations of the VHL tumor on the suppressor gene. This study was to show the clinical characteristics of a large Chinese kindred with von Hippel-Lindau disease and to evaluate the role of the genetic test of VHL disease in the diagnosis... |
2,339,969 | Selection for avian immune response: a commercial breeding company challenge. | Selection for immune function in the commercial breeding environment is a challenging proposition for commercial breeding companies. Immune response is only one of many traits that are under intensive selection, thus selection pressure needs to be carefully balanced across multiple traits. The selection environment (si... |
2,339,970 | Non-major histocompatibility complex alloantigen genes affecting immunity. | An alloantigen is a genetically determined cell-surface molecule detected by specific antisera. An identifying letter has been assigned to each genetic locus responsible for the 12 distinct families of alloantigens: A, B, C, D, E, H, I, J, K, L, P, and R. The genes of each system segregate independently of the other sy... |
2,339,971 | Analysis of chicken TLR4, CD28, MIF, MD-2, and LITAF genes in a Salmonella enteritidis resource population. | Salmonella enteritidis is a foodborne pathogen that negatively affects both animal and human health. Genetic variations in response to pathogenic SE colonization or to SE vaccination were measured in a chicken resource population. Outbred broiler sires and 3 diverse, highly inbred dam lines produced 508 F1 progeny that... |
2,339,972 | PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). | Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases in children. The clinical spectrum ranges from stillbirth and neonatal demise to survival into adulthood. In a given family, however, patients usually display comparable phenotypes. Many families who lost a ... |
2,339,973 | Evidence for linkage between regulatory enzymes in glycolysis and schizophrenia in a multiplex sample. | Observations of impaired glucose regulation in schizophrenia are long-standing, although their pathological and etiological significance is uncertain. One approach to the issue that minimizes environmental variables (e.g., medication and diet) is to determine whether genes related to glucose regulation show genetic lin... |
2,339,974 | Optimizing purebred selection for crossbred performance using QTL with different degrees of dominance. | A method was developed to optimize simultaneous selection for a quantitative trait with a known QTL within a male and a female line to maximize crossbred performance from a two-way cross. Strategies to maximize cumulative discounted response in crossbred performance over ten generations were derived by optimizing weigh... |
2,339,975 | Lessons learned from establishing and evaluating indicators of the quality of measles surveillance in the United States, 1996-1998. | As part of a strategy to eliminate measles, 7 indicators were adopted in the United States in 1996 to ensure the quality of measles surveillance. This report summarizes the US experience with these indicators during 1996-1998. The indicators are compiled from data reported to the Centers for Disease Control and Prevent... |
2,339,976 | [Osteogenesis imperfecta Type 1: a case presentation with a new mutation in gene COL1A1]. | In a 4 year old girl the diagnosis osteogenesis imperfecta type I was suspected by following clinical criteria: four fractures after small trauma, intensive blue sclera, anomalies of dental enamel, macrocephalie with frontal bassing. Clinical diagnosis could be verified by moleculargenetic analysis, a newly recognized ... |
2,339,977 | [cDNA-microarrays in cartilage research - functional genomics of osteoarthritis]. | Functional genomics represents a new challenging approach in order to analyze complex diseases such as osteoarthritis on a molecular level. The characterization of the molecular changes of the cartilage cells, the chondrocytes, enables a better understanding of the pathomechanisms of the disease. In particular, the ide... |
2,339,978 | Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France). | Cystic fibrosis (CF) has an incidence of one in 2,636 livebirths and a carrier rate of one in 26 inhabitants in Brittany. One objective of a major enquiry among parents having a CF child as well as CF adolescents and adults was to evaluate the reproductive behavior of 124 couples attending a CF care center. Knowledge o... |
2,339,979 | [Congenital hypopituitarism: when should transcription factor gene screenings be performed?]. | THE GENETIC ORIGIN INCREASINGLY INCRIMINATED: Congenital pituitary hormone deficiencies represent conditions of hypopituitarism resulting from abnormal pituitary ontogenesis. This group of genetically determined diseases has considerably widened with the development of molecular biology. Many transcription factors play... |
2,339,980 | In vitro transcription of Tomato spotted wilt virus is independent of translation. | Ongoing transcription in vitro of Tomato spotted wilt virus (TSWV) has previously been demonstrated to require the presence of reticulocyte lysate. This dependence was further investigated by testing the occurrence of transcription in the presence of two translation inhibitors: edeine, an inhibitor that still allows sc... |
2,339,981 | Low linkage disequilibrium indicative of recombination in foot-and-mouth disease virus gene sequence alignments. | We have applied tests for detecting recombination to genes of foot-and-mouth disease virus (FMDV). Our approach estimated summary statistics of linkage disequilibrium (LD), which are sensitive to recombination. Using the genealogical relationships, rate heterogeneity and mutation parameters estimated from individual se... |
2,339,982 | Cigarette smoking, oncogenic human papillomavirus, Ki-67 antigen, and cervical intraepithelial neoplasia. | Although cigarette smoking has been identified as a cofactor for cervical neoplasia, it is not clear whether smoking exerts an early or late effect on the evolution of human papillomavirus (HPV)-related lesions. A case-control study of Washington State women who presented for routine gynecologic care from 1997 to 2001 ... |
2,339,983 | Does the addition of information on genotype improve prediction of the risk of melanoma and nonmelanoma skin cancer beyond that obtained from skin phenotype? | The authors quantified improvement in predicting cutaneous malignant melanoma, basal cell carcinoma, and squamous cell carcinoma of the skin made possible by information on common variants of the melanocortin-1 receptor gene (MC1R) in a 1998-1999 population-based case-control study of subjects aged 20-59 years of north... |
2,339,984 | Signal transducer and activator of transcription 6 haplotypes and asthma in the Indian population. | In this paper, we report for the first time the results of an investigation on the association of signal transducer and activator of transcription 6 (STAT6) with asthma in the Indian population. A novel polymorphic CA-repeat in the proximal promoter region [R1] and a previously identified CA-repeat in the 5'-untranslat... |
2,339,985 | Gene-environment interactions and the complexity of human genetic diseases. | In the assessment of mortality and morbidity risk, the ability of family history and genetic test results to predict the age of occurrence, severity, and long-term prognosis of 'genetic' diseases is important. An increasing number of gene-gene and gene-environment interactions have been demonstrated in a number of mono... |
2,339,986 | A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. | Fukuyama-type congenital muscular dystrophy (FCMD) is characterized by congenital muscular dystrophy in combination with central nervous system (CNS) abnormalities. Differential diagnosis of FCMD from Duchenne and Becker muscular dystrophies (DMD/BMD) or other types of congenital muscular dystrophy is occasionally diff... |
2,339,987 | Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome. | Maternal uniparental disomy for chromosome 14 causes a recognizable phenotype that has a number of consistent features, irrespective of the underlying chromosome abnormality. To illustrate this, we describe a patient with a 46,XX karyotype whose short stature, hypotonia, feeding problems, truncal obesity, early puberty... |
2,339,988 | RNA interference: historical overview and significance. | In the early 1990s, attempts to manipulate gene expression by researchers working in three different fields resulted in unanticipated gene silencing. Rather than ignoring such results, these researchers went on to document and further investigate the nature of such silencing, which was named "co-suppression" in plants,... |
2,339,989 | Genetic analysis of soluble N-ethylmaleimide-sensitive factor attachment protein function in Drosophila reveals positive and negative secretory roles. | The N-ethylmaleimide-sensitive factor (NSF) and soluble NSF attachment protein (SNAP) are cytosolic factors that promote vesicle fusion with a target membrane in both the constitutive and regulated secretory pathways. NSF and SNAP are thought to function by catalyzing the disassembly of a SNAP receptor (SNARE) complex ... |
2,339,990 | Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia. | Bronchopulmonary dysplasia (BPD), the most common chronic lung disease in infancy, is influenced by a number of antenatal and postnatal risk factors and is mostly preceded by respiratory distress syndrome (RDS) in the newborn. Surfactant protein (SP-A, -B, -C and -D) gene variations may play a role in both BPD and RDS.... |
2,339,991 | Prognostic analysis of E-cadherin gene promoter hypermethylation in patients with surgically resected, node-positive, diffuse gastric cancer. | Recent investigations have demonstrated that hypermethylation is a frequent mechanism for silencing tumor suppressor genes. This is a potentially reversible epigenetic change, and it is the target of a novel class of anticancer compounds with demethylating activity. Better understanding of the clinical implications of ... |
2,339,992 | Poxvirus vaccines for cancer and HIV therapy. | The poxviridae have a long history of causing disease in society, and their biological effects in humans and other mammals have been extensively studied. In the 1980s, genetic engineering techniques were applied to vaccinia in order to create replicating recombinant vectors that could express inserted genes encoding in... |
2,339,993 | Genetic analysis of a successful repatriation programme: giant Galápagos tortoises. | As natural populations of endangered species dwindle to precarious levels, remaining members are sometimes brought into captivity, allowed to breed and their offspring returned to the natural habitat. One goal of such repatriation programmes is to retain as much of the genetic variation of the species as possible. A ta... |
2,339,994 | Human papillomavirus DNA presence of the upper respiratory tract mucosa of healthy children. | The papillomaviruses are a group of small DNA (8 kbp) viruses which induce papillomas in human and animals. Most of them can also transform epithelial cells of human and other vertebrates. Examinations of children with Recurrent Respiratory Papillomatosis (RRP), using PCR method with specific primers, revealed HPV type... |
2,339,995 | Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion). | An association between anterior glottic webs and velocardiofacial syndrome (chromosome 22q11.2 deletion) has previously been noted in a number of case reports. Our objective was to determine if the presence of such webs warrants a high index of suspicion for this chromosome deletion. Study design and setting This study... |
2,339,996 | Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. | Anderson-Fabry disease is possibly underdiagnosed in patients with end-stage renal disease. Nationwide screening was therefore undertaken for Anderson-Fabry disease among dialysis patients in Austria. Screening for alpha-galactosidase A (AGAL) deficiency was performed by a blood spot test. In patients with a positive s... |
2,339,997 | Circulating immune complexes augment severity of antibody-mediated myasthenia gravis in hypogammaglobulinemic RIIIS/J mice. | Experimental autoimmune myasthenia gravis (EAMG) is severe in RIIIS/J mice, despite a significant B cell immunodeficiency and a massive TCR V beta gene deletion. Severity of EAMG in RIIIS/J mice is greater than MHC-identical (H-2(r)) B10.RIII mice, suggesting the influence of non-MHC genes as an EAMG-potentiating facto... |
2,339,998 | Rapid screening for HLA-B27 by a TaqMan-PCR assay using sequence-specific primers and a minor groove binder probe, a novel type of TaqMan trade mark probe. | HLA-B27 is strongly associated with ankylosing spondylitis (AS). As typing for HLA-B27 is routinely performed by serological methods, false-positive results can be generated. Therefore, several more accurate molecular methods have been developed for HLA-B27 genotyping. We describe a real-time PCR method for the detecti... |
2,339,999 | Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. | Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era, ataxias were some of the most poorly understood neurological disorders; the unravelling of their molecular basis enabled precise diagnosis in v... |
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