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2,337,500 | Development and psychometric testing of the coping with breast cancer threat instrument. | Women with a positive family history of breast cancer have a higher relative breast cancer risk. Research pertinent to this "at-risk" population has focused primarily on the early detection measures of breast self-exam, clinical breast exam, and mammography. Other specific primary prevention coping behaviors have recei... |
2,337,501 | Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2. | Crouzon Syndrome is an autosomal dominant syndromic craniosynostosis characterized by premature closure of cranial sutures, exophthalmos, and midface hypoplasia. It is caused by multiple mutations in the fibroblast growth factor receptor 2 (FGFR2). We describe prenatal genetic testing of FGFR2 in a fetus of a mother wh... |
2,337,502 | Hemoglobin E levels in double heterozygotes of hemoglobin E and SEA-type alpha-thalassemia. | Coinheritance of alpha-thalassemia and hemoglobin E (Hb E) is prevalent in Thailand, where the gene frequencies of thalassemia and hemoglobinopathies are high. Hb E carriers with, concomitant inheritance of alpha-thalassemia 1 are known to have a lower level of Hb E. In this study, we reviewed the Hb E levels in Hb E c... |
2,337,503 | [Wilson disease]. | Wilson disease is an autosomal recessive inherited disorder of human copper metabolism that leads to neurological symptoms and hepatic damage of variable degree. The affected gene ATP7B encodes a hepatic copper transport protein, which plays a key role in human copper metabolism. Clinical symptoms are complex with neur... |
2,337,504 | Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. | In contrast to its high prevalence in Caucasians, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is reported to be an extremely rare metabolic disorder in the Asian population. The common MCAD gene (ACADM) mutation 985A>G (p.K329E), accounting for the majority of cases in Caucasians, has not been detected in ... |
2,337,505 | Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests. | Although neonatal screening (or newborn screening) for cystic fibrosis (CF) is commonly practiced, systematic methods for accurate risk calculations are currently lacking.</AbstractText>We evaluated characteristics of the immunoreactive trypsinogen (IRT) test using the published data. The probability that a neonate has... |
2,337,506 | Concerns in a primary care population about genetic discrimination by insurers. | Fear of genetic discrimination might deter participation in research or therapy. This is a major impetus for laws limiting insurers' use of genetic information, yet there is little information about the extent of this fear in the general population and how it varies by social factors.</AbstractText>This study measures ... |
2,337,507 | Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. | To test the incidence of mutations in RPGR ORF15 in six families with X-linked progressive retinal degeneration (cone-rod dystrophy [XLCORD], macular or cone dystrophy) and to undertake a detailed phenotypic assessment of families in whom ORF15 mutations were identified.</AbstractText>To amplify and sequence ORF15 in i... |
2,337,508 | Polymorphism in the P-glycoprotein drug transporter MDR1 gene in colon cancer patients. | The P-glycoprotein, a product of MDR1 (multiple drug resistance 1) gene, is a membrane efflux pump localized in epithelial cells in the small and large intestine, a part of the gastrointestinal barrier that protects cells against xenobiotics from our diet, bacterial toxins, drugs and other biologically active compounds... |
2,337,509 | The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. | Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive disorder caused by mutations in the PANK2 gene. The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new. Only nine patients could be clas... |
2,337,510 | Primary lateral sclerosis as a phenotypic manifestation of familial ALS. | Primary lateral sclerosis (PLS) is a diagnosis of exclusion in patients with progressive spinobulbar spasticity and could be part of the clinical spectrum of ALS. Unlike ALS, which is familial in 5 to 10% of the cases, PLS has been described as a sporadic disorder in adults. The authors report two patients with PLS fro... |
2,337,511 | Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. | Hereditary sensory and autonomic neuropathy type 2 (HSAN2; MIM 201300) is a rare recessive neuropathy typically diagnosed in the first decade. The 1973 study of a French Canadian family led to the definition of HSAN2.</AbstractText>To demonstrate that the apparent higher prevalence of HSAN2 in Quebec is due to the pres... |
2,337,512 | Association between family history of dementia and hallucinations in Parkinson disease. | To identify familial risk factors for hallucinations in patients with Parkinson disease (PD).</AbstractText>Two hundred seventy-six outpatients with PD participated in the study. The presence of hallucinations was determined using a validated questionnaire, including items regarding the occurrence of visual, auditory, ... |
2,337,513 | The human solute carrier gene SLC35B4 encodes a bifunctional nucleotide sugar transporter with specificity for UDP-xylose and UDP-N-acetylglucosamine. | The transport of nucleotide sugars from the cytoplasm into the Golgi apparatus is mediated by specialized type III proteins, the nucleotide sugar transporters (NSTs). Transport assays carried out in vitro with Golgi vesicles from mammalian cells showed specific uptake for a total of eight nucleotide sugars. When this s... |
2,337,514 | Hardy-Weinberg testing of a single homozygous genotype. | No proper statistical test is available for the evaluation of deviation of a single homozygous genotype from Hardy-Weinberg equilibrium (HWE) proportion. We propose a 1-d.f. chi2-test. The power of the proposed test is favorable compared to existing HWE testing procedures. The applications of this test are discussed. |
2,337,515 | Assessment of drug resistance mutations in plasma and peripheral blood mononuclear cells at different plasma viral loads in patients receiving HAART. | HIV drug resistance mutations both in peripheral blood mononuclear cells (PBMCs) and plasma have the ability to influence the outcome of highly active antiretroviral therapy for HIV patients. PBMCs harbor archival proviral DNA, are a major source of HIV and also underdo latent infection during suppressive HAART.</Abstr... |
2,337,516 | Polymorphisms in the TSHR (thyrotropin receptor) gene on chromosome 14q31 are not associated with mental retardation in the iodine-deficient areas of China. | Mental retardation (MR) is one of the most frequent handicaps among children. Fetal iodine deficiency disorder (FIDD) is the commonest cause of preventable MR. However, not everyone in the iodine-deficient areas is affected and familial aggregation is common. This suggests that genetic factors may play an important rol... |
2,337,517 | SMN1 dosage analysis in spinal muscular atrophy from India. | Spinal muscular atrophy (SMA) represents the second most common fatal autosomal recessive disorder after cystic fibrosis. Due to the high carrier frequency, the burden of this genetic disorder is very heavy in developing countries like India. As there is no cure or effective treatment, genetic counseling becomes very i... |
2,337,518 | Patterns of genetic variation do not correlate with geographical distance in the reef-building coral Pocillopora meandrina in the South Pacific. | Dispersal may be a critical factor in the ability of reef-building corals to recover after major disturbances. We studied patterns of geographical structure using four microsatellite markers in seven South Pacific populations of Pocillopora meandrina, a major coral species from Polynesia. Variation within populations s... |
2,337,519 | Donor CD31 genotype and its association with acute graft-versus-host disease in HLA identical sibling stem cell transplantation. | CD31 gene polymorphisms are implicated in the pathogenesis of graft-versus-host disease (GvHD) following haematopoietic stem cell transplantation (HST). We investigated the influence of CD31 genotype on the incidence of GvHD following HST from an human leukocyte antigen (HLA)-identical sibling donor. Donor and recipien... |
2,337,520 | Randomized comparison of group versus individual genetic education and counseling for familial breast and/or ovarian cancer. | An efficient approach to education and counseling before BRCA1 and BRCA2 mutation testing is necessary for effective utilization of testing in the community. Education and counseling, when delivered individually, are limited by a shortage of trained health care providers as well as by financial and time constraints. Th... |
2,337,521 | Alpha-1-antichymotrypsin gene polymorphism and susceptibility to multiple system atrophy (MSA). | We investigated three genotypes (AA, AT, and TT) produced by signal peptide polymorphism of the alpha-1-antichymotrypsin (ACT) gene in 105 patients with multiple system atrophy (MSA) and age-matched controls. The frequency of ACT-AA genotype was significantly higher in patients with MSA (20.0%) than in controls (10.5%)... |
2,337,522 | A 1.3 kb promoter fragment confers spatial and temporal expression of utrophin A mRNA in mouse skeletal muscle fibers. | Upregulation of utrophin in muscle is currently being examined as a potential therapy for Duchenne muscular dystrophy patients. In this context, we generated transgenic mice harboring a 1.3 kb human utrophin A promoter fragment driving expression of the lacZ gene. Characterization of reporter expression during postnata... |
2,337,523 | [Clinical significance of HNPCC, surgical aspects of early recognition]. | A hereditary background may be demonstrated in approximately 15-20% of colorectal carcinomas. Familial adenomatous polyposis syndrome (FAP) constitutes about 1% of this patient population whereas hereditary non-polyposis colorectal carcinoma (HNPCC) makes up a further 3-6% of colorectal malignancies. The clinical featu... |
2,337,524 | Pragmatic approaches to genetic screening. | Pragmatic approaches to genetic testing are discussed and appraised. Whilst there are various schools of pragmatism, the Deweyan approach seems to be the most appreciated in bioethics as it allows a historical approach indebted to Hegel. This in turn allows the pragmatist to specify and balance principles in various co... |
2,337,525 | What should we want to know about our future? A Kantian view on predictive genetic testing. | Recent advances in genomic research have led to the development of new diagnostic tools, including tests which make it possible to predict the future occurrence of monogenetic diseases (e.g. Chorea Huntington) or to determine increased susceptibilities to the future development of more complex diseases (e.g. breast can... |
2,337,526 | Clinical evaluation and emergency management of inborn errors of metabolism presenting in the newborn. | Close to 500 biochemically diverse genetic metabolic disorders have been identified. Despite their diversity, these diseases share a number of features. First, the majority of patients with an inborn error present clinically with one of five general phenotypes; acute encephalopathy, progressive encephalopathy, primary ... |
2,337,527 | The utility of FT4 serum in newborns at risk for congenital hypothyroidism (CH). | Thyrotropin (TSH) stimulates hormonogenesis using the iodate substrate and tyrosine amino acid. After various enzymatic reactions, thyroxine (T4) and triiodothyronine (T3) are released. Part of the hormone freely circulates in serum as free T3 (FT3) and free T4 (FT4). TSH is released after feedback. A study was underta... |
2,337,528 | Newborn screening in Australia and New Zealand. | Newborn screening began in Australia and New Zealand in the mid-1960's as local and pilot programs and implemented as country or state-wide programs around 1970. There are five programs covering all Australia and one for New Zealand. All screening programs are fully government funded, as is treatment for the conditions... |
2,337,529 | Storage and use of residual dried blood spots. | Newborn screening policy for Australia and New Zealand is developed by a committee of the Human Genetics Society of Australasia and the Royal Australasian College of Physicians Division of Pediatrics. Each program policy varies according to the local laws and customs. The residual dried blood spot policy recommends tha... |
2,337,530 | The impact of first-trimester screening on AMA patients' uptake of invasive testing. | Prenatal testing for AMA includes invasive procedures such as CVS and amniocentesis, which have risks. We sought to determine the effects of first-trimester screening (FTS) on referrals for genetic counseling and patients' decisions to pursue invasive testing after FTS was offered in 2002.</AbstractText>We compared AMA... |
2,337,531 | A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region. | Prostate cancer (PRCA) is the most common cancer in males in the western world. In Finland PRCA has an age-adjusted incidence of 81.5 per 100,000. We previously reported that in Finland, the late-onset cases in families with "no-male-to-male" (NMM) transmission of PRCA accounted for most of the linkage to the HPCX regi... |
2,337,532 | Fetal DNA detection in maternal plasma throughout gestation. | The presence of fetal DNA in maternal plasma may represent a source of genetic material which can be obtained noninvasively. We wanted to assess whether fetal DNA is detectable in all pregnant women, to define the range and distribution of fetal DNA concentration at different gestational ages, to identify the optimal p... |
2,337,533 | Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation. | The familial paraganglioma syndrome is an autosomal dominant disorder characterized by the presence of carotid body paragangliomas and, less frequently, paragangliomas of the glomus jugulare, glomus vagale, and adrenal pheochromocytomas. Germline mutations of the genes for succinate dehydrogenase subunits D, B, or C (S... |
2,337,534 | Specificity of SLC26A4 mutations in the pathogenesis of inner ear malformations. | The traditional hypothesis concerning the pathogenesis of inner ear malformations holds that various types of malformations represent different stages of developmental arrest during embryogenesis. In order to verify this hypothesis, we surveyed mutations in the SLC26A4(PDS) gene, which were documented to cause enlarged... |
2,337,535 | Influence of maternal-fetal histocompatibility and MHC zygosity on maternal microchimerism. | To investigate the relationship between maternal-fetal histocompatibility and maternal microchimerism, we developed a sensitive quantitative PCR assay for the neomycin resistance gene (neoR), and, in a mouse model system, used neoR as a noninherited maternal allele marker of maternal cells to detect and quantitate mate... |
2,337,536 | The effect of synchronization on genetic parameters of reproductive traits in dairy cattle. | Genetic evaluation and selection is one strategy for improving female reproductive performance. Many producers use synchronization of ovulation or estrus to manage reproduction. The objective of this study was to examine the effects of reproductive synchronization on genetic parameter estimates of days to first breedin... |
2,337,537 | Hotelling's T2 multivariate profiling for detecting differential expression in microarrays. | The most widely used statistical methods for finding differentially expressed genes (DEGs) are essentially univariate. In this study, we present a new T(2) statistic for analyzing microarray data. We implemented our method using a multiple forward search (MFS) algorithm that is designed for selecting a subset of featur... |
2,337,538 | Testing hypotheses of speciation timing in Dicamptodon copei and Dicamptodon aterrimus (Caudata: Dicamptodontidae). | Giant salamanders of the genus Dicamptodon are members of the mesic forest ecosystem that occurs in the Pacific Northwest of North America. We estimate the phylogeny of the genus to test several hypotheses concerning speciation and the origin of current species distributions. Specifically, we test competing a priori hy... |
2,337,539 | Quantitative trait loci for novelty/stress-induced locomotor activation in recombinant inbred (RI) and recombinant congenic (RC) strains of mice. | The objective of the present study was to map and compare quantitative trait loci (QTLs) for an anxiety-related trait (novelty/stress-induced activation) in the AXB/BXA recombinant inbred (RI) and AcB/BcA recombinant congenic (RC) strains of mice derived from the A/J and C57BL/6J inbred progenitor strains. Activational... |
2,337,540 | On the use of haplotype phylogeny to detect disease susceptibility loci. | The cladistic approach proposed by Templeton has been presented as promising for the study of the genetic factors involved in common diseases. This approach allows the joint study of multiple markers within a gene by considering haplotypes and grouping them in nested clades. The idea is to search for clades with an exc... |
2,337,541 | The effects of normalization on the correlation structure of microarray data. | Stochastic dependence between gene expression levels in microarray data is of critical importance for the methods of statistical inference that resort to pooling test-statistics across genes. It is frequently assumed that dependence between genes (or tests) is sufficiently weak to justify the proposed methods of testin... |
2,337,542 | Genetics content in the graduate audiology curriculum: a survey of academic programs. | Astounding progress has been made in the identification and characterization of genes for hearing loss, which has led to an increasing role of genetics evaluation and testing in the diagnostic process for children with hearing loss. The importance of health professionals such as audiologists gaining core competencies i... |
2,337,543 | Effects of periadolescent ethanol exposure on alcohol preference in two BALB substrains. | Ethanol exposure during adolescence is a rite of passage in many societies, but only a subset of individuals exposed to ethanol becomes dependent on alcohol. To explore individual differences in response to ethanol exposure, we compared the effects of periadolescent ethanol exposure on alcohol drinking in an animal mod... |
2,337,544 | Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects. | We report two infants identified by tandem mass spectrometry (MS/MS) of neonatal blood spot acylcarnitines and confirmed by molecular genetic analysis to have long-chain fatty acid oxidation defects. In both cases, acylcarnitine concentrations in confirmatory plasma samples were normal. None the less, molecular testing... |
2,337,545 | Protein toxins: intracellular trafficking for targeted therapy. | The immunotoxin approach is based on the use of tumor-targeting ligands or antibodies that are linked to the catalytic (toxic) moieties of bacterial or plant protein toxins. In this review, we first discuss the current state of clinical development of immunotoxin approaches describing the results obtained with the two ... |
2,337,546 | Identification of a turnover element in region 2.1 of Escherichia coli sigma32 by a bacterial one-hybrid approach. | Induction of the heat shock response in Escherichia coli requires the alternative sigma factor sigma32 (RpoH). The cellular concentration of sigma32 is controlled by proteolysis involving FtsH, other proteases, and the DnaKJ chaperone system. To identify individual sigma32 residues critical for degradation, we used a r... |
2,337,547 | Genomewide screen for pulmonary function in 200 families ascertained for asthma. | Changes in pulmonary function are important in determining asthma outcome. Genetic factors may influence airway obstruction in asthma. We performed a genomewide screen in 200 families of probands objectively diagnosed with asthma in the 1960s to identify chromosomal regions related to changes in pre- and postbronchodil... |
2,337,548 | Batch-to-batch consistency of human-derived gonadotrophin preparations compared with recombinant preparations. | Different gonadotrophin preparations derived from human urine or manufactured by recombinant technology are currently used in clinical practice for the treatment of infertility. It has been widely assumed that gonadotrophin products manufactured by recombinant technology have better batch-to-batch consistency compared ... |
2,337,549 | Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene. | Marked variation in phenotypic expression among BRCA1 and BRCA2 mutation carriers may be partly explained by modifier genes that influence mutation penetrance. Variation in CAG/CAA repeat lengths coding for stretches of glutamines in the C-terminus of the AIB1 protein (amplified in breast cancer 1, a steroid receptor c... |
2,337,550 | Association between the COMT Val158Met polymorphism and propensity to anxiety in an Australian population-based longitudinal study of adolescent health. | Catechol-O-methyltransferase plays a central role in the metabolism of biogenic amines such as norepinephrine, dopamine and serotonin. Functional studies have demonstrated a dose relationship between ValMet genotypes and catechol-O-methyltransferase activity. Compared with the ValVal genotype, the ValMet and MetMet gen... |
2,337,551 | Extracellular superoxide dismutase (EC-SOD) gene mutations screening in a sample of Mediterranean population. | The main role of superoxide dismutases (SODs) is to eliminate reactive oxygen species in cells and tissues. Extracellular SOD (EC-SOD/SOD3) is a major superoxide scavenger and it is located on cell surfaces and primarily in extracellular matrix, and binds heparan sulfates by its carboxyterminal portion. Human EC-SOD ge... |
2,337,552 | Decreased levels of BDNF protein in Alzheimer temporal cortex are independent of BDNF polymorphisms. | Levels of brain-derived neurotrophic factor (BDNF) are reduced in specific brain regions in Alzheimer's disease (AD) and BDNF gene polymorphisms have been suggested to influence AD risk, hippocampal function, and memory. We investigated whether the polymorphisms at the BDNF 196 and 270 loci were associated with AD in a... |
2,337,553 | Evaluation of hereditary risk in a mammography population. | BRCA1 and BRCA2 mutations significantly increase a women's lifetime risk of breast and ovarian cancer. Because several management options have shown promise in decreasing morbidity and mortality for these women, identifying potential mutation carriers is increasingly important. We have developed a large-scale method to... |
2,337,554 | Development of polymer latex particles for selective cleavage of mismatched DNA and their application for DNA diagnosis. | We developed functional polymer latex particles that can catch and cleave mismatched DNA selectively and propose a new mismatch detection system using the functional particles. The aimed particles possess two functional units composed of mismatch binding protein (MutS) and an anthraquinone derivative (AQ), a light-acti... |
2,337,555 | Identification of candidate regions for familial idiopathic scoliosis. | A genomic screen and statistical linkage analysis of 202 families with at least two individuals with idiopathic scoliosis was performed.</AbstractText>To identify candidate regions or the autosomal loci that may be involved in the expression of familial idiopathic scoliosis.</AbstractText>A large sample of families wit... |
2,337,556 | Significance of Beevor's sign in facioscapulohumeral dystrophy and other neuromuscular diseases. | An atypical presentation of facioscapulohumeral dystrophy (FSH) is described, where the presence of a positive Beevor's sign led to genetic testing and subsequent probable diagnostic confirmation. This prompted evaluation of a further 68 patients for the presence of Beevor's sign. Among these, 19/20 patients with FSH h... |
2,337,557 | A study of TRAIL receptors in squamous cell carcinoma of the head and neck. | To determine the potential immediate applicability of tumor necrosis factor-related apoptosis-inducing ligand receptor 1 (TRAIL-R1) and TRAIL-R2, the apoptotic forms of TRAIL-Rs, for preclinical testing.</AbstractText>Head and neck squamous cell carcinoma (HNSCC) tumors were studied for TRAIL-R1 and TRAIL-R2 expression... |
2,337,558 | Fibroblast growth factor receptor 3 inhibition by short hairpin RNAs leads to apoptosis in multiple myeloma. | The presence of t(4;14)(p16.3;q32.3) in multiple myeloma cells results in dysregulated expression of the fibroblast growth factor receptor 3 (FGFR3). FGFR3 acts as an oncogene to promote multiple myeloma cell proliferation and antiapoptosis. These encourage the clinical development of FGFR3-specific inhibitors. Three s... |
2,337,559 | Prenatal diagnostic decision-making in adolescents. | We sought to evaluate the prenatal decision-making of pregnant adolescents identified at increased risk for identifiable fetal genetic abnormalities.</AbstractText>A retrospective review of records of gravid women 19 years old or younger undergoing genetic counseling from 2001-2003 (inclusive) was undertaken.</Abstract... |
2,337,560 | Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy. | We report here the clinical, genetic, and molecular characterization of three Chinese families (WZ4, WZ5, and WZ6) with Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. Penetrances of visual impairment in... |
2,337,561 | Characterization of a novel HLA-Cw*02 variant, Cw*0208, in a Caucasian individual. | We describe an additional HLA-Cw*02 variant, HLA-Cw*0208, which has been identified in a renal transplant recipient of Caucasian origin (Italy). After performing preliminary serological typing, we analyzed exons 2 and 3 of the HLA-C locus polymorphism by cloning the amplified DNA and using a sequence-based typing metho... |
2,337,562 | HLA-B*5701 typing by sequence-specific amplification: validation and comparison with sequence-based typing. | Susceptibility to abacavir hypersensitivity (ABC HSR) is strongly associated with alleles carried on the 57.1 ancestral haplotype including HLA-B*5701 and Hsp70 Hom M493T. In one study, prospective testing for HLA-B*5701 and exclusion of individuals carrying this allele, from receiving abacavir, substantially lowered t... |
2,337,563 | [Distribution of haplotypes for four Y-sTR loci and validation in forensic science by using a double-fluorescent multiplex PCR system]. | We focus on developing a multiplex PCR system for Y-STR loci that can be detected by double fluorescent system and assessing their usefulness in forensic mixture samples.</AbstractText>The primers of four Y-STR loci (DYS-GATA-A10, DYS531, DYS557 and DYS448) amplified by multiplex PCR technique were labeled with fluores... |
2,337,564 | The wide spectrum of spinocerebellar ataxias (SCAs). | Spinocerebellar ataxias (SCAs) are a clinically heterogeneous group of disorders. Current molecular classification corresponds to the order of gene description (SCA1-SCA 25). The prevalence of SCAs is estimated to be 1-4/100,000. Patients exhibit usually a slowly progressive cerebellar syndrome with various combination... |
2,337,565 | Gastric cancer: new genetic developments. | Gastric cancer's (GC) incidence shows large geographic differences worldwide with the lowest rates occurring in most Western industrialized countries including the United States and the United Kingdom; in contrast, relatively high rates of GC occur in Japan, Korea, China, and South America, particularly Chile. The Laur... |
2,337,566 | Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. | Data on the frequency of alpha-synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the ... |
2,337,567 | Genetic testing and the family. | The family experience of genetic testing is explored in this article. Two family stories are presented to illustrate how families define and manage the ethical and social issues that emerge during 2 types of genetic testing: mutation analysis for Huntington's disease and genetic testing for breast and ovarian cancer su... |
2,337,568 | Newborn screening and genetic testing. | New screening techniques and diagnostic tests for genetic diseases available for newborn screening can provide information about many diseases long before they are clinically detected. However, this information creates complex questions and ethical dilemmas regarding which newborns should be tested, when testing should... |
2,337,569 | Options for Down syndrome screening: what will women choose? | Down syndrome screening has been offered to pregnant women since the early 1980s. Protocols have changed as research confirmed improvements that result in higher detection rates and lower false-positive rates. Results from 2 clinical trials evaluating screening protocols that include ultrasound measurement of nuchal tr... |
2,337,570 | Cystic fibrosis screening. | The integration of universal cystic fibrosis screening in women's health has considerably altered the way we care for obstetric patients and likely will be the foundation for incorporating other genetic tests into routine women's health care. Prior to this change in the standard of care, screening for genetic disease w... |
2,337,571 | A primer on genetic testing. | Use of genetic tests in the clinical practice setting is a current reality, and an increasing number of patients are asking about and requesting genetic testing. The push to translate genetic research findings and technological innovations into clinical practice will continue as our understanding of the genetic basis o... |
2,337,572 | Genetic competencies essential for health care professionals in primary care. | The completion of the sequencing of the human genome in 2003 signaled the onset of the genomic era in health care. The knowledge gleaned from the Human Genome Project has led to the understanding that every health problem has a genetic component and that clinicians should include the application of genetic information ... |
2,337,573 | A novel germline mutation, 1793delG, of the MEN1 gene underlying multiple endocrine neoplasia type 1. | Pulmonary carcinoids are rare neuroendocrine tumors which comprise 1-2% of all lung tumors. They usually occur sporadically; however, their association with multiple endocrine neoplasia type 1 (MEN1) syndrome has been documented. We report a case of a Thai woman with a pulmonary carcinoid tumor and a null cell pituitar... |
2,337,574 | Screening for deleterious nonsynonymous single-nucleotide polymorphisms in genes involved in steroid hormone metabolism and response. | To facilitate selection of single-nucleotide polymorphisms (SNP) for molecular epidemiologic studies investigating the hormonal carcinogenesis hypothesis, we used two sequence homology-based tools [Sort Intolerant from Tolerant (SIFT) and Polymorphism Phenotype (PolyPhen)] to predict the potential impact a nonsynonymou... |
2,337,575 | Deletion of iNOS gene impairs mouse fracture healing. | Nitric oxide (NO) is a signaling molecule synthesized from l-arginine by nitric oxide synthases (NOSs). NOS isoforms are either constitutive (endothelial NOS [eNOS] and neuronal NOS [nNOS]) or inducible NOS (iNOS). Previously, our group has reported that NO is expressed during and modulates fracture healing. In this st... |
2,337,576 | On statistical tests of phylogenetic tree imbalance: the Sackin and other indices revisited. | We investigate the distribution of statistical measures of tree imbalance in large phylogenies. More specifically, we study normalized versions of the Sackin's index and the number of subtrees of given sizes. Using the connection with structures from theoretical computer science, we provide precise description for the ... |
2,337,577 | The decision evaluation scales. | There are several instruments to assess how patients evaluate their medical treatment choice. These are used to evaluate decision aids. Our objective is to investigate which psychological factors play a role when patients evaluate their medical treatment choices. A pool of 36 items was constructed, covering concepts su... |
2,337,578 | The catadromous European eel Anguilla anguilla (L.) as a model for freshwater evolutionary ecotoxicology: relationship between heavy metal bioaccumulation, condition and genetic variability. | Understanding the effects of pollutants on the genome is of crucial importance to preserve the evolutionary potential of endangered natural populations. The highly vagile European eel (Anguilla anguilla L.) has suffered a dramatic decline in recruitment since two decades, urging for a better understanding of the geneti... |
2,337,579 | Enhanced functional recovery from spinal cord injury following intrathecal or intramuscular administration of poliovirus replicons encoding IL-10. | Poliovirus-based vectors (replicons) have been shown to maintain the in vitro tropism of poliovirus for motor neurons of the CNS. To determine if replicons could be effective for delivery of potentially beneficial proteins to the CNS, we have constructed and characterized a replicon encoding IL-10. IL-10 was rapidly pr... |
2,337,580 | Phenotypic and genetic differentiation between native and introduced plant populations.<Pagination><StartPage>1</StartPage><EndPage>11</EndPage><MedlinePgn>1-11</MedlinePgn></Pagination><Abstract><AbstractText>Plant invasions often involve rapid evolutionary change. Founder effects, hybridization, and adaptation to nov... | Plant invasions often involve rapid evolutionary change. Founder effects, hybridization, and adaptation to novel environments cause genetic differentiation between native and introduced populations and may contribute to the success of invaders. An influential idea in this context has been the Evolution of Increased Com... |
2,337,581 | Prion biology relevant to bovine spongiform encephalopathy. | Bovine spongiform encephalopathy (BSE) and chronic wasting disease (CWD) of deer and elk are a threat to agriculture and natural resources, as well as a human health concern. Both diseases are transmissible spongiform encephalopathies (TSE), or prion diseases, caused by autocatalytic conversion of endogenously encoded ... |
2,337,582 | An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse. | We have developed a sensitized screen to identify genes involved in gene silencing, using random N-ethyl-N-nitrosourea mutagenesis on mice carrying a variegating GFP transgene. The dominant screen has produced six mutant lines, including both suppressors and enhancers of variegation. All are semidominant and five of th... |
2,337,583 | Detection of CFTR mutations using ARMS and low-density microarrays. | The amplification refractory mutation system (ARMS) is routinely used for the identification of specific mutations within genomes. This PCR-based assay, although simple, is performed at a low-throughput scale, usually requiring gel-electrophoresis for the identification of specific mutations. We have applied the ARMS t... |
2,337,584 | Living with a hereditary disease: persons with muscular dystrophy and their next of kin. | This qualitative study describes conceptions and experiences of the hereditary aspect of muscular dystrophy (MD) from both the patients' and the next of kin's perspective. Different diagnoses of MD are included: dystrophia myotonica, myopathia distalis tarda hereditaria, Becker MD, facioscapulohumeral MD, limb-girdle M... |
2,337,585 | Development and modification of child food preferences and eating patterns: behavior genetics strategies. | Behavioral genetics (BG) designs can offer useful strategies for studying the development of child food preferences and eating patterns. This review summarizes BG designs that tested familial influences on child eating behavior and implicated both genetic and home environmental factors. A range of BG strategies, includ... |
2,337,586 | Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. | The occuloalbinism 2 (OCA2) gene, localized at 15q11, encodes a melanosomal transmembrane protein that is involved in the most common form of human occulo-cutaneous albinism, a human genetic disorder characterized by fair pigmentation and susceptibility to skin cancer. We wondered whether allele variations at this locu... |
2,337,587 | ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. | Intrahepatic cholestasis of pregnancy (ICP) affects approximately 0.7% of pregnancies in the UK and is associated with prematurity, fetal distress, and intrauterine death. Homozygous mutations in the ATP8B1 gene cause cholestasis with a normal serum gamma-glutamyl transpeptidase (gamma-GT), and have been reported in tw... |
2,337,588 | Retinoblastoma: genetic testing versus conventional clinical screening in India. | Genetic testing is increasingly being used to evaluate susceptibility to hereditary diseases because it is a cost effective screening method. Predictive testing for retinoblastoma can help to save the vision and avoid unnecessary (and invasive) eye examinations for probands and their close relatives. This study was und... |
2,337,589 | Genetic testing in the myelodysplastic syndromes: molecular insights into hematologic diversity. | The myelodysplastic syndromes (MDS) are associated with a diverse set of acquired somatic genetic abnormalities. Bone marrow karyotyping provides important diagnostic and prognostic information and should be attempted in all patients who are suspected of having MDS. Fluorescent in situ hybridization (FISH) studies on b... |
2,337,590 | Polymorphisms in DNA repair genes as risk factors for spina bifida and orofacial clefts. | Repairing DNA damage is critical during embryogenesis because development involves sensitive periods of cell proliferation, and abnormal cell growth or death can result in malformations. Knockout mouse experiments have demonstrated that disruption of DNA repair genes results in embryolethality and structural defects. S... |
2,337,591 | Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location. | Autosomal recessive omodysplasia (ARO), a rare congenital skeletal dysplasia, is characterized by micromelia and craniofacial anomalies. Upper and lower limbs are affected in contrast to the dominant form in which the lower limbs are normal. Radiographic features include shortening and distal tapering of the humerus an... |
2,337,592 | Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? | Abnormalities in folate and/or homocysteine metabolism may adversely influence embryonic development, leading to the birth of infants with a variety of congenital malformations, including neural tube defects (NTDs) and craniofacial abnormalities. Based upon suggestive evidence that periconceptional folic acid supplemen... |
2,337,593 | Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France. | The prevalence of BRCA1/2 germ-line mutations was assessed in a prospective population-based series of early-onset breast cancer (BC) patients in France, and the usefulness of a clinical assessment of hereditary BC risk, based on multiple criteria including pedigree structure, was evaluated. Through the Rhone region BC... |
2,337,594 | Genetic testing for inherited colon cancer. | The genes associated with each of the inherited syndromes of colon cancer have now been identified, and genetic testing is available for diagnosis. These syndromes include familial adenomatous polyposis, hereditary nonpolyposis colorectal cancer, Peutz-Jeghers syndrome, juvenile polyposis syndrome, and, possibly, Cowde... |
2,337,595 | The (CA)n polymorphism of the TNFR2 gene is associated with peak bone density in Chinese nuclear families. | Low peak bone density (PBD) in adulthood is an important determinant of osteoporotic fracture (OF) in the elderly. The tumor necrosis factor receptor 2 (TNFR2) gene has been considered as an important candidate gene for PBD due to its important role in bone turnover. In this study, we recruited a total of 1,263 subject... |
2,337,596 | Short tandem repeats haplotyping of the HLA region in preimplantation HLA matching. | Recently, preimplantation genetic diagnosis (PGD) has been considered for several indications beyond its original purpose, not only to test embryos for genetic disease but also to select embryos for a nondisease trait, such as specific human leukocyte antigen (HLA) genotypes, related to immune compatibility with an exi... |
2,337,597 | In vivo characterization of a vertebrate ultraconserved enhancer. | Genomic sequence comparisons among human, mouse, and pufferfish (Takifugu rubripes (Fugu)) have revealed a set of extremely conserved noncoding sequences. While this high degree of sequence conservation suggests severe evolutionary constraint and predicts a lack of tolerance to change to retain in vivo functionality, s... |
2,337,598 | Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. | Retinoblastoma (RB) is a neoplasm of retinal origin caused by mutations in RB1, the retinoblastoma tumor suppressor gene. To facilitate genetics counseling and patient management, we adopted a multistep molecular screening assay for detecting RB1 mutations. This assay included DNA sequencing to identify mutations withi... |
2,337,599 | Identifying nineteenth century genealogical links from genotypes. | We have developed a likelihood method to identify moderately distant genealogical relationships from genomewide scan data. The aim is to compare the genotypes of many pairs of people and identify those pairs most likely to be related to one another. We have tested the algorithm using the genotypes of 170 Tasmanians wit... |
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