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2,338,000 | Molecular heterogeneity of beta-thalassemia in the United Arab Emirates. | The beta-thalassemia alleles in 313 national patients of the United Arab Emirates (UAE) have been characterized using PCR-based DNA-diagnostic techniques including DNA sequencing. A total of 212 patients had homozygous beta-thalassemia and the remaining 101 were compound heterozygotes. More than half of the patients we... |
2,338,001 | Genetic contribution to high neonatally lethal malformation rate in the United Arab Emirates. | We examined the contribution of genetic disorders to congenital anomalies (CA) causing neonatal deaths in the Al Ain Medical District (AMD) in the United Arab Emirates (UAE) because of the high consanguineous marriage rate in the community.</AbstractText>Charts of all neonatal deaths in the three perinatal units, which... |
2,338,002 | Common autosomal recessive diseases in Oman derived from a hospital-based registry. | The local frequencies of genetic disorders in Oman apart from hemoglobinopathies are largely unknown. The aim of the present study was to evaluate birth prevalence of commonly diagnosed autosomal recessive diseases and to estimate needs and priorities of genetic services.</AbstractText>Analysis of the years 1993-2002 u... |
2,338,003 | Patients' resistance to risk information in genetic counseling for BRCA1/2. | Risk information from health care providers is relevant to and used in nearly all medical decisions. Patients often misunderstand their risks, yet little is known about the risk perception that patients derive from risk communications with health care providers. This study examines patients' risk perceptions following ... |
2,338,004 | Genetic screens for genes controlling motor nerve-muscle development and interactions. | Motor growth cones navigate long and complex trajectories to connect with their muscle targets. Experimental studies have shown that this guidance process critically depends on extrinsic cues. In the zebrafish embryo, a subset of mesodermal cells, the adaxial cells, delineates the prospective path of pioneering motor g... |
2,338,005 | Genotyping single nucleotide polymorphisms by MALDI mass spectrometry in clinical applications. | Matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry has become one of the most powerful and widely applied technologies for SNP scoring and determination of allele frequencies in the post-genome sequencing era. Although different strategies for allele discrimination combined with MA... |
2,338,006 | Speeding disease gene discovery by sequence based candidate prioritization. | Regions of interest identified through genetic linkage studies regularly exceed 30 centimorgans in size and can contain hundreds of genes. Traditionally this number is reduced by matching functional annotation to knowledge of the disease or phenotype in question. However, here we show that disease genes share patterns ... |
2,338,007 | Role of inflammation in mouse lung tumorigenesis: a review. | Peritumoral and intratumoral macrophages are associated with human and mouse lung cancer The mouse model allows manipulation of the macrophage population to experimentally evaluate its contribution to tumor growth. Genetic and pharmacologic strategies also permit testing the invol vement of specific inflammatory mediat... |
2,338,008 | [Genetic adrenal diseases]. | The development of molecular biological techniques has unveiled much information on the pathogenesis of many disease at the DNA and RNA level, as well as provided a considerable improvement in diagnostic potential and treatment. The advantages achieved in molecular biology and genetic engineering have also found applic... |
2,338,009 | Incorporating gene-specific variation when inferring and evaluating optimal evolutionary tree topologies from multilocus sequence data. | Because of the increase of genomic data, multiple genes are often available for the inference of phylogenetic relationships. The simple approach for combining multiple genes from the same taxon is to concatenate the sequences and then ignore the fact that different positions in the concatenated sequence came from diffe... |
2,338,010 | Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect. | Patients with hereditary cancer are usually diagnosed earlier than patients with non-hereditary tumours. In children with isolated unilateral retinoblastoma, some of whom have a hereditary predisposition, this rule has been subject to debate. We have analysed the clinical manifestation of disease in 188 children with c... |
2,338,011 | Regional variation of airway hyperresponsiveness in children with asthma. | Families with asthmatic children were recruited to take part in a multi-centre collaborative study into the genetics of asthma. Detailed phenotypic information was collected on all family members including: lung function, anthropomorphic measurements, response to methacholine challenge, skin prick testing, serum IgE me... |
2,338,012 | Etiological diagnosis of bilateral, sensorineural hearing impairment in a pediatric Greek population. | Early diagnosis, evaluation and treatment of childhood deafness are essential for a child's normal growth. Etiological diagnosis of hearing loss makes prevention, family scheduling and more effective therapy feasible goals. Etiological assessment of sensorineural deafness still remains difficult although recently with ... |
2,338,013 | PEG-appended beta-(1-->3)-D-glucan schizophyllan to deliver antisense-oligonucleotides with avoiding lysosomal degradation. | Schizophyllan is a natural beta-(1-->3)-d-glucan existing as a triple helix in water and as a single chain in dimethylsulfoxide (DMSO). As we already reported, when a homo-polynucleotide [e.g., poly(dA) or poly(C)] is added to the schizophyllan/DMSO solution and subsequently DMSO is exchanged for water, the single c... |
2,338,014 | Identification of novel genes affecting mesoderm formation and morphogenesis through an enhanced large scale functional screen in Xenopus. | The formation of mesoderm is an important developmental process of vertebrate embryos, which can be broken down into several steps; mesoderm induction, patterning, morphogenesis and differentiation. Although mesoderm formation in Xenopus has been intensively studied, much remains to be learned about the molecular event... |
2,338,015 | A gynogenetic screen to isolate naturally occurring recessive mutations in Xenopus tropicalis. | In the rapidly developing, diploid amphibian Xenopus tropicalis, genetics can be married to the already powerful tools of the amphibian system to overcome a disability that has hampered Xenopus laevis as a model organism: the difficulties inherent in conducting genetic analyses in a tetraploid organism with a longer ge... |
2,338,016 | Medical devices; clinical chemistry and clinical toxicology devices; drug metabolizing enzyme genotyping system. Final rule. | The Food and Drug Administration (FDA) is classifying drug metabolizing enzyme (DME) genotyping test systems into class II (special controls). The special control that will apply to the device is the guidance document entitled "Class II Special Controls Guidance Document: Drug Metabolizing Enzyme Genotyping System." Th... |
2,338,017 | Prognostic values of tumor endothelial markers in patients with colorectal cancer. | Tumor endothelial markers (TEMs) are a newly discovered family of endothelial markers associated with tumor specific angiogenesis. This study sought to examine the levels of expression (qualitatively and quantitatively) for TEMs in human colon cancer.</AbstractText>Human colorectal cancer tissues (n = 48) and normal ba... |
2,338,018 | A microarray-based gastric carcinoma prewarning system. | To develop a microarray-based prewarning system consisting of gastric cancer chip, prewarning data and analysis software for early detection of gastric cancer and pre-cancerous lesions.</AbstractText>Two high-density chips with 8,464 human cDNA sites were used to primarily identify potential genes specific for normal g... |
2,338,019 | Reduction of selection bias in genomewide studies by resampling. | The accuracy of gene localization, the reliability of locus-specific effect estimates, and the ability to replicate initial claims of linkage and/or association have emerged as major methodological concerns in genomewide studies of complex diseases and quantitative traits. To address the issue of multiple comparisons i... |
2,338,020 | Human coxsackie adenovirus receptor (CAR) expression in transgenic mouse prostate tumors enhances adenoviral delivery of genes. | Transgenic mice that recapitulate the progression of human diseases are potentially useful models for testing the effectiveness of new therapeutic strategies. Their use in pre-clinical testing of adenovirally-delivered gene therapies, however, is limited because of restricted cell surface expression of Coxsackie adenov... |
2,338,021 | Parallel minisequencing followed by multiplex matrix-assisted laser desorption/ionization mass spectrometry assay for beta-thalassemia mutations. | Beta-thalassemia is a common monogenic disease caused by mutations in the human beta-globin gene (HBB), many of which are differentially represented in human subpopulations stratified by ethnicity. This study describes an efficient and highly accurate method to screen for the eight most-common disease-causing mutations... |
2,338,022 | Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. | To describe the clinical features and genetic analysis of eight X-linked congenital stationary night blindness (XLCSNB) Dutch patients.</AbstractText>Electroretinogram (ERG) measurements were assessed in Dutch patients. Molecular genetic testing by denaturing high performance liquid chromatography (DHPLC), single stran... |
2,338,023 | Insulin-like growth factors as diagnostic tools in growth hormone deficiency during childhood and adolescence: the KIGS experience. | Growth hormone (GH) deficiency in children covers a spectrum of disorders involving an impairment in GH secretion and a clinical syndrome characterized by permanent stunting of growth. Ascertaining impairments in GH secretion directly is complex, especially if GH deficiency (GHD) is isolated and not caused by congenita... |
2,338,024 | Immunohistochemistry accurately predicts FGFR3 aberrant expression and t(4;14) in multiple myeloma. | The t(4;14) translocation detected by fluorescence in situ hybridization (FISH) is an independent prognostic factor for an adverse outcome of multiple myeloma (MM). Because t(4;14) uniquely results in fibroblast growth factor receptor 3 (FGFR3) expression, decalcified, paraffin-embedded bone marrow biopsies were immuno... |
2,338,025 | Dissecting the genetic etiology of major depressive disorder using linkage analysis. | Major depressive disorder (MDD) is clinically and genetically heterogeneous. Studies suggest that recurrence, early onset and comorbid phenotypes define more genetically homogeneous sub-samples. The concordance of linkage findings in recent studies using such approaches is encouraging. Sex-specific analyses and broader... |
2,338,026 | Retrospective family study of childhood medulloblastoma. | Medulloblastoma is the most common malignant central nervous system tumor of childhood and can occur sporadically or in association with inherited cancer susceptibility syndromes such as the nevoid basal cell carcinoma syndrome (NBCCS). To determine whether an association existed between the risk of developing medullob... |
2,338,027 | Genetic screening and diagnosis. | To review the latest developments in screening and diagnosis of non-chromosomal genetic diseases.</AbstractText>Major recent advances include the completion of the Human Genome Project, the use of microarray and related technologies for mass screening and diagnosis of thousands of genetic abnormalities, and non-invasiv... |
2,338,028 | A novel spermatogenesis related factor-2 (SRF-2) gene expression affected by TCDD treatment. | We have cloned a gene which is specifically expressed at the stage of sexual maturation in the rat testis by means of differential display, and have named it spermatogenesis-related factor-2 (SRF-2). Testicular expression was first detected at 5 weeks of age, and its level of the expression increased up to 7 weeks, and... |
2,338,029 | Overview: animal models of osteopenia and osteoporosis. | Prior to initiating a clinical trial in a post-menopausal osteoporosis study, it is reasonable to recommence the evaluation of treatment in the 9-month-old ovariectomized female rat. A female rat of this age has reached peak bone mass and can be manipulated to simulate clinical findings of post-menopausal osteoporosis.... |
2,338,030 | Genetic regulation of bone mineral density in mice. | Peak bone mass is a major determinant of risk of osteoporotic fracture. Family and twin studies have found a strong genetic component to the determination of bone mineral density (BMD). However, BMD is a complex trait whose expression is confounded by environmental influences and polygenic inheritance. The number, loca... |
2,338,031 | Animal models of osteoarthritis in an era of molecular biology. | Animal models of osteoarthritis (OA) are used to study the pathogenesis of cartilage degeneration and to evaluate potential anti-arthritic drugs for clinical use. In general, these models fall into 2 categories, spontaneous and induced (surgical instability or genetic manipulation). Animal models of naturally occurring... |
2,338,032 | Genetic testing for Alzheimer's disease and its impact on insurance purchasing behavior. | New genetic tests for adult-onset diseases raise concerns about possible adverse selection in insurance markets. To test for this behavior, we followed 148 cognitively normal people participating in a randomized clinical trial of genetic testing for Alzheimer's disease for one year after risk assessment and Apolipoprot... |
2,338,033 | Overview of molecular, cellular, and genetic neurotoxicology. | It has become increasingly evident that the field of neurotoxicology is not only rapidly growing but also rapidly evolving, especially over the last 20 years. As the number of drugs and environmental and bacterial/viral agents with potential neurotoxic properties has grown, the need for additional testing has increased... |
2,338,034 | Emerging human papillomavirus vaccines. | Human papillomavirus (HPV) infections are a leading cause of virus-associated cancers of the anogenital, oropharyneal and cutaneous epithelium. The most prevalent of these is cervical cancer, which is responsible for approximately 500,000 deaths annually worldwide. A group of about 15 serologically unrelated 'high-risk... |
2,338,035 | Hemoglobinopathies, G6PD deficiency, and hereditary elliptocytosis in Bahrain. | The native population of Bahrain has a high prevalence of hemoglobinopathies and G6PD deficiency, probably as a result of past malarial endemism. We used the Biorad-Variant hemoglobin testing system for primary screening of hemoglobinopathies in 20,000 individuals. Hemoglobin abnormalities were detected in 7,206 (36.3%... |
2,338,036 | COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. | The skeletal dysplasias are a clinically and genetically heterogeneous group of conditions affecting the development of the osseous skeleton and fall into the category of rare genetic diseases in which the diagnosis can be difficult for the nonexpert. Two such diseases are pseudoachondroplasia (PSACH) and multiple epip... |
2,338,037 | ICAM G241A polymorphism and soluble ICAM-1 serum levels: evidence for an active immune process in schizophrenia. | We have previously reported reduced serum levels of soluble intercellular adhesion molecule-1 (sICAM-1) in schizophrenic patients. A single-nucleotide polymorphism (SNP) of the ICAM-1 gene was described at position 241. The G-->A SNP results in a nonsynonymous amino acid exchange of the ICAM-1 protein, and the A all... |
2,338,038 | Cross-species sperm-FISH assays for chemical testing and assessing paternal risk for chromosomally abnormal pregnancies. | The father, like the mother, can transmit genetic defects to his offspring that are detrimental for normal development and a healthy life. Epidemiological studies have identified associations between several paternal exposures and abnormal reproductive outcomes, but these types of studies are inherently complex and exp... |
2,338,039 | Genome-wide screen for prostate cancer susceptibility genes in men with clinically significant disease. | One of the difficulties confronting genetic studies of prostate cancer is the complex and heterogeneous etiology. Given the high population frequency of lesions meeting the histological definition of prostate cancer, a significant portion of men with a positive family history may be diagnosed due to increased surveilla... |
2,338,040 | Polymorphisms in SPINK5 are not associated with asthma in a Dutch population. | Asthma and allergic phenotypes are complex genetic diseases with known linkage to chromosome 5q. This region has many candidate genes, including serine protease inhibitor Kazal type 5 (SPINK5), which has been associated with asthma and atopic dermatitis in family-based studies of children with atopic dermatitis.</Abstr... |
2,338,041 | Inherited medullary thyroid cancer and the duty to warn: revisiting Pate v. Threlkel in light of HIPAA. | Familial medullary thyroid cancer (FMTC) is one of the few autosomal dominant cancers for which genetic testing provides a clear medical indication for prophylactic and/or curative therapy, and for which prophylactic thyroidectomy, followed by thyroid hormone replacement, presents a relatively low morbidity risk. Medul... |
2,338,042 | Strategies for the study of meiosis in rye. | We describe how we are furthering our understanding of meiosis in rye (Secale cereale L.) using a combination of cytogenetic and molecular biological approaches. Fluorescent in situ hybridisation, electron microscopy of synaptonemal complexes, sequencing of meiosis-specific genes, and the immunolocalisation of recombin... |
2,338,043 | MTX-induced white matter changes are associated with polymorphisms of methionine metabolism. | Methotrexate (MTX) is a folate antagonist inhibiting nucleic acid and methionine synthesis. Methionine is necessary for CNS myelination. In 42 patients with primary CNS lymphoma (PCNSL) treated with a systemic and intraventricular high-dose MTX-based polychemotherapy, the presence of a risk haplotype defined by polymor... |
2,338,044 | High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. | Mutations in GTP cyclohydrolase I (GCHI) are found in 50 to 60% of cases with dopa-responsive dystonia (DRD). Heterozygous GCHI exon deletions, undetectable by sequencing, have recently been described in three DRD families. We tested 23 individuals with DRD for the different mutation types by conventional and quantitat... |
2,338,045 | Testing the usefulness of the molecular coancestry information to assess genetic relationships in livestock using a set of Spanish sheep breeds. | Recent studies have proposed the use of molecular coancestry coefficients as a measure of genetic variability and as a useful tool for conservation purposes. Using simulated data, molecular coancestry has been shown to become constant very quickly after separation of populations, leading to population diversity remaini... |
2,338,046 | Dissemination of transferable CTX-M-type extended-spectrum beta-lactamase-producing Escherichia coli in Korea.<Pagination><StartPage>921</StartPage><EndPage>927</EndPage><MedlinePgn>921-7</MedlinePgn></Pagination><Abstract><AbstractText Label="AIMS" NlmCategory="OBJECTIVE">Among 365 Escherichia coli isolated in 2003, 3... | Despite more aggressive treatment of diabetes, hypertension, and hyperlipidemia, the incidence and prevalence rates of end-stage renal disease (ESRD) continue to increase worldwide. The likelihood of developing chronic kidney disease in an individual is determined by interactions between genes and the environment. Fami... |
2,338,047 | Student screening for inherited blood disorders in Bahrain. | In Bahrain and neighbouring countries inherited disorders of haemoglobin, i.e. sickle-cell disease, thalassaemias and glucose-6-phosphate dehydrogenase (G6PD) deficiency, are common. As part of the National Student Screening Project to determine the prevalence of genetic blood disorders and raise awareness among young ... |
2,338,048 | Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis. | XX males range phenotypically from completely masculinised individuals to true hermaphrodites and include a subset of SRY negative patients. The correlation between genotype (SRY+/-) and phenotype is still unclear.</AbstractText>To report three new patients with this rare condition, one of whom was diagnosed prenatally... |
2,338,049 | Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. | 11beta-Hydroxylase deficiency is a common form of congenital adrenal hyperplasia causing virilization of the female fetus and hypertension. DNA analysis of the gene (CYP11B1) encoding 11beta-hydroxylase has been reported previously to be effective in the prenatal diagnosis of one affected female fetus. In that case, pr... |
2,338,050 | Outpatient genetic risk assessment in women with breast cancer: one center's experience. | A chart audit at one cancer center, of 193 women with breast cancer, was completed to assess whether a complete family history that may indicate genetic predisposition was obtained and if that information led a provider to suggest risk reduction strategies. A risk management tool, which included a pedigree template, wa... |
2,338,051 | Nurses' views of longitudinal genetic screening of and research on children. | There is a lack of empirical data exploring ethical issues of genetic screening and longitudinal research involving children. Therefore, this pilot interview study explored the perceptions of nurses and midwives in relation to their involvement in an ongoing genetic preventive screening process involving children - the... |
2,338,052 | HIV-1 resistance genotyping on dried serum spots. | To assess the feasibility of HIV-1 group M resistance genotyping on dried serum spots, by testing samples from previously untreated patients, patients on treatment, and patients having stopped treatment, representing a wide genetic diversity panel.</AbstractText>Serum samples from 62 HIV-1-infected Caucasian and Africa... |
2,338,053 | Vi antigen expression in Salmonella enterica serovar Typhi clinical isolates from Pakistan. | The accurate identification of Salmonella enterica subsp. enterica serovar Typhi variants that fail to express the capsular polysaccharide, Vi, is an important and much discussed issue for medical microbiology. We have tested a multiplex PCR method which shows the presence or absence of the genetic locus required for V... |
2,338,054 | Polar body diagnosis for hemophilia a using multiplex PCR for linked polymorphic markers. | Preimplantation genetic diagnosis (PGD) is usually performed on blastomeres. In Germany, the only possibility to perform PGD is by analysis of polar bodies. We performed PGD using polar bodies in a woman who is a carrier of hemophilia A. Multiplex PCR followed by nested fluorescent PCR for five linked polymorphic marke... |
2,338,055 | Preimplantation genetic diagnosis--an overview. | Since the early 1990s, preimplantation genetic diagnosis (PGD) has been expanding in scope and applications. Selection of female embryos to avoid X-linked disease was carried out first by polymerase chain reaction, then by fluorescence in situ hybridization (FISH), and an ever-increasing number of tests for monogenic d... |
2,338,056 | Allele frequencies for 70 autosomal SNP loci with U.S. Caucasian, African-American, and Hispanic samples. | 189 samples from 3 different U.S. sample groups Caucasian (74), African American (71) and Hispanic (44) were typed for 70 autosomal genetic markers. These 70 markers are bi-allelic (C/T) short nucleotide polymorphisms (SNPs). For each sample, the 70 SNP markers were typed in 11 unique 6-plexes and a single 4-plex PCR. ... |
2,338,057 | Making and breaking serotonin neurons and autism. | Dysfunction of brain serotonin system development is hypothesized to contribute to autistic behaviors. The testing of this hypothesis will likely depend on a better understanding of the genes and mechanisms involved in serotonin neuron cell fate specification. In this review we summarize the main features of vertebrate... |
2,338,058 | Dissecting the genetics of human high myopia: a molecular biologic approach. | Despite the plethora of experimental myopia animal studies that demonstrate biochemical factor changes in various eye tissues, and limited human studies utilizing pharmacologic agents to thwart axial elongation, we have little knowledge of the basic physiology that drives myopic development. Identifying the implicated ... |
2,338,059 | Host susceptibility and clinical outcomes in toll-like receptor 5-deficient patients with typhoid fever in Vietnam. | Toll-like receptor 5 (TLR5) mediates innate immune responses to bacterial pathogens by binding to flagellin. A polymorphism in the TLR5 gene introduces a premature stop codon (TLR5(392STOP)) that is associated with susceptibility to legionnaires disease. Here we investigated whether TLR5(392STOP) was associated with ty... |
2,338,060 | Recent advances in hereditary hemochromatosis. | Hereditary hemochromatosis, a very common genetic defect in the Caucasian population, is characterized by progressive tissue iron overload which leads to irreversible organ damage if it is not treated in a timely manner. Recent developments in the field of molecular medicine have radically improved the understanding of... |
2,338,061 | Genetic analysis of selected strains of eastern oyster (Crassostrea virginica Gmelin) using AFLP and microsatellite markers. | Amplified fragment length polymorphisms (AFLPs) and microsatellite markers were used to examine genetic variation and divergence in 4 selected strains (DBH, NEH, FMF, and CTS) and 1 wild population (DBW) of the eastern oyster Crassostrea virginica Gmelin. Eighty-six AFLP markers (from 3 primer pairs) and 5 microsatelli... |
2,338,062 | Nonreplication in genetic studies of complex diseases--lessons learned from studies of osteoporosis and tentative remedies. | Inconsistent results have accumulated in genetic studies of complex diseases/traits over the past decade. Using osteoporosis as an example, we address major potential factors for the nonreplication results and propose some potential remedies. Over the past decade, numerous linkage and association studies have been perf... |
2,338,063 | Partition-distance via the assignment problem. | Accuracy testing of various pedigree reconstruction methods requires an efficient algorithm for the calculation of distance between a known partition and its reconstruction. The currently used algorithm of Almudevar and Field takes a prohibitively long time for certain partitions and population sizes.</AbstractText>We ... |
2,338,064 | Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism. | Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to a total iodide organification defect. The aim of the present study was to determine the nature and frequency of TPO gene mutations in patients with CH, characterised by elevated TSH levels an... |
2,338,065 | Personality stability in late adulthood: a behavioral genetic analysis. | A sample of 833 twins from the Minnesota Twin Study of Adult Development and Aging completed the Multidimensional Personality Questionnaire (MPQ; Tellegen, 1982) twice, averaging 59.4 (sd=9.7) years of age at first and 64.4 (sd=10.2) years of age at second testing (average retest interval 5.0 years, sd=2.36, range 1.0-... |
2,338,066 | Hereditary nonpolyposis colorectal cancer (Lynch syndrome): criteria for identification and management. | Hereditary nonpolyposis colorectal carcinoma (HNPCC), or Lynch syndrome, is an autosomal dominant syndrome accounting for 5 to 10% of the total colorectal cancer population. Patients with this syndrome develop colorectal carcinoma at an early age, but disease onset can happen in all age groups. Usually the carcinomas a... |
2,338,067 | Separating predictive genetic testing from snake oil: regulation, liabilities, and lost opportunities. | This article explores the extent to which completion of maps of the human genome, coupled with the introduction of technology that will accelerate the identification of gene and protein function, have introduced immeasurable potential to advance life science and health care through genetic profiling. In light of defini... |
2,338,068 | Hereditary melanoma and predictive genetic testing: why not? | Since p16-Leiden presymptomatic testing for hereditary melanoma has become available in the Netherlands, the benefits and risks of offering such testing are evaluated. The current paper investigated why the non-participants were reluctant to participate in genetic testing.</AbstractText>Sixty six eligible individuals, ... |
2,338,069 | Testing the possibility to protect bovine PrPC transgenic Swiss mice against bovine PrPSc infection by DNA vaccination using recombinant plasmid vectors harboring and expressing the complete or partial cDNA sequences of bovine PrPC. | The objective of this study was to investigate the molecular mechanisms of neurobiological processes involved in the degeneration of the central nervous system. The bovine spongiform encephalopathy (BSE) was used as experimental model system for investigation of transmissible spongiform encephalopathy (TSE). The experi... |
2,338,070 | Effects of race on survival after stem cell transplantation. | Effects of race or ethnicity on survival after high-dose chemoradiation followed by stem cell transplantation (SCT) have not been thoroughly evaluated. We analyzed survival according to racial/ethnic categories for 3587 consecutive patients who had SCT at a single US institution between July 1992 and December 2000. Amo... |
2,338,071 | Viral vector mediated overexpression of human alpha-synuclein in the nigrostriatal dopaminergic neurons: a new model for Parkinson's disease. | Parkinson's disease is predominantly a dopamine deficiency syndrome, which is produced in the brain by the loss of cells located in a small area in the ventral midbrain called the substantia nigra. Complete unilateral dopamine lesions, based on the administration of toxic substances (ie, 6-hydroxy-dopamine in rats and ... |
2,338,072 | APP23 mice as a model of Alzheimer's disease: an example of a transgenic approach to modeling a CNS disorder. | Animal models are considered essential in research ensuing elucidation of human disease processes and subsequently, testing of potential therapeutic strategies. This is especially true for neurodegenerative disorders, in which the first steps in pathogenesis are often not accessible in human patients. Alzheimer's disea... |
2,338,073 | Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone. | The gene encoding oestrogen receptor alpha (ESR1) appears to regulate bone mineral density (BMD) and other determinants of osteoporotic fracture risk.</AbstractText>To investigate the relation between common polymorphisms and haplotypes of the ESR1 gene and osteoporosis related phenotypes in a population based cohort o... |
2,338,074 | Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs. | The FOXC2 gene on 16q24 is mutated in lymphoedema distichiasis (LD), in which varicose veins (VV) are a common feature. We hypothesised that this gene might be implicated in the development of VV in the normal population, therefore, after performing a classical twin study, we tested for linkage and association in white... |
2,338,075 | A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases. | The haplotype based association method offers a powerful approach to complex disease gene mapping. In this method, a few common haplotypes that account for the vast majority of chromosomes in the populations are usually examined for association with disease phenotypes. This brings us to a critical question of whether r... |
2,338,076 | Association of partial AZFc region deletions with spermatogenic impairment and male infertility. | Complete deletions of the AZFc region in distal Yq are the most frequent molecular genetic cause of severe male infertility. They are caused by intrachromosomal homologous recombination between amplicons--large, nearly identical repeats--and are found in 5-10% of cases of azoospermia and severe oligozoospermia. Homolog... |
2,338,077 | Genetic screening for prey in the gut contents from a giant squid (Architeuthis sp.). | Giant squids (Architeuthis sp.) remain mysterious; they have evaded observation and are rarely taken from their deep sea habitat. Information on the diet of Architeuthis is scarce due to the limited number of specimens with morphologically recognizable remains in their digestive tracts. We explored the use of polymeras... |
2,338,078 | On evolutionary origin of cancer. | BACKGROUND: The necessary and sufficient capabilities of cancer cell have been identified. Strikingly, this list does not include one that would seem to be a key property, namely the ability of cancer cells to kill their "host". This is believed to be a self-evident consequence of the other capabilities (e.g., metastas... |
2,338,079 | Tapasin gene polymorphism in systemic onset juvenile rheumatoid arthritis: a family-based case-control study. | Juvenile rheumatoid arthritis (JRA) comprises a group of chronic systemic inflammatory disorders that primarily affect joints and can cause long-term disability. JRA is likely to be a complex genetic trait, or a series of such traits, with both genetic and environmental factors contributing to the risk for developing t... |
2,338,080 | A1166C angiotensin II type 1 receptor gene polymorphism may predict hemodynamic response to losartan in patients with cirrhosis and portal hypertension.<Pagination><StartPage>636</StartPage><EndPage>642</EndPage><MedlinePgn>636-42</MedlinePgn></Pagination><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE... | Losartan, a dose of 25 mg/day, has been found to be effective in 50% of patients with portal hypertension without adverse effects. We evaluated the relationship between genetic polymorphisms of the renin-angiotensin system (A1166C angiotensin II type 1 receptor (AT1R), angiotensinogen T174M and M235T, and angiotensin-c... |
2,338,081 | Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3). | We present a family with three cases of recombination aneusomy rec(5)dup(5q) originating from a large parental pericentric inversion of chromosome 5. The proband--a 6-year-old girl with mental retardation, speech delay, microcephaly, and slight facial dysmorphism--was referred for subtelomere testing. FISH with a Multi... |
2,338,082 | Age and manifestation related symptoms in familial adenomatous polyposis. | To identify early symptoms of familial adenomatous polyposis with a view to improve early diagnosis and treatment. Diagnosis on the basis of genetic testing is usually limited to where there is a known family history, so FAP is more usually diagnosed on clinical grounds. Except for those identified via FAP registers, t... |
2,338,083 | Asymmetry in host and parasitoid diffuse coevolution: when the red queen has to keep a finger in more than one pie. | BACKGROUND: Coevolution between pairs of antagonistic species is generally considered an endless "arms race" between attack and defense traits to counteract the adaptive responses of the other species. PRESENTATION OF THE HYPOTHESIS: When more than two species are involved, diffuse coevolution of hosts and parasitoids ... |
2,338,084 | Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography. | Charcot-Marie-Tooth (CMT) disease is a collection of related genetic disorders affecting peripheral nerves with an incidence of one in every 2500 individuals. A diagnosis of CMT disease has classically relied on a medical history, examination, and measurement of nerve conduction velocities. Advancements in genetic test... |
2,338,085 | [Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family]. | Hereditary multiple exostosis (HME), a disorder inherited in an autosomal dominant manner, is characterized by multiple projections of bone, mainly at the extremities. The risk of malignant transformation of the exostoses is estimated to be up to 2%. The most common underlying cause of the disease involves mutations in... |
2,338,086 | The promise of genetically engineered mice for cancer prevention studies. | Sophisticated genetic technologies have led to the development of mouse models of human cancers that recapitulate important features of human oncogenesis. Many of these genetically engineered mouse models promise to be very relevant and relatively rapid systems for determining the efficacy of chemopreventive agents and... |
2,338,087 | Selection indices in Holstein cattle of various countries. | Fifteen countries, based on geographical representation, Interbull membership, and size of progeny testing programs, provided a brief description of national selection index and top bull listings from August 2003. Individual traits included in each selection index were grouped into 3 components as they related to produ... |
2,338,088 | Data subsetting strategies for estimation of across-country genetic correlations. | International genetic evaluation of dairy cattle requires estimation of genetic correlations among populations to account for genotype-environment interaction. Simultaneous estimation of across-country genetic correlations among all populations of a widespread breed, such as the Holstein breed is, however, hampered by ... |
2,338,089 | Role of early case detection by screening relatives of patients with HFE-associated hereditary haemochromatosis. | Hereditary haemochromatosis is a primary inherited disorder of iron metabolism leading to progressive iron loading of parenchymal cells of the liver and other organs with diverse clinical manifestations, including cirrhosis, diabetes and skin pigmentation. This chapter will focus on HFE-associated hereditary haemochrom... |
2,338,090 | The South African bone marrow registry (SABMR) in 2004. | Because of the presence of rare HLA antigens, particularly in patients of African ancestry, the SABMR was established in 1991. Currently approximately 20% of unique HLA types in the international database is from the SABMR. The SABMR donors now total approximately 45,000. Sixty-five South African patients have received... |
2,338,091 | Preparation of recombinant African horse sickness virus VP7 antigen via a simple method and validation of a VP7-based indirect ELISA for the detection of group-specific IgG antibodies in horse sera. | This paper describes the production and purification of a group-specific recombinant protein VP7 of African horse sickness virus serotype 3 (AHSV-3) and validation of an I-ELISA for the detection of IgG-antibodies to VP7 in horse sera. Baculovirus-expressed VP7 crystals were purified from infected insect cells. Analyti... |
2,338,092 | Measurement of fractionated plasma metanephrines for exclusion of pheochromocytoma: Can specificity be improved by adjustment for age? | BACKGROUND: Biochemical testing for pheochromocytoma by measurement of fractionated plasma metanephrines is limited by false positive rates of up to 18% in people without known genetic predisposition to the disease. The plasma normetanephrine fraction is responsible for most false positives and plasma normetanephrine i... |
2,338,093 | Quantification of melanoma micrometastases in sentinel lymph nodes using real-time RT-PCR. | Detection of micrometastases in the regional tumor-draining lymph nodes is critical for staging and prognosis in melanoma patients. We applied a quantitative multiple-marker RT-PCR assay to improve the detection of occult melanoma cells in the sentinel lymph node (SLN). From 139 patients with primary cutaneous melanoma... |
2,338,094 | Comparison of maximum statistics for hypothesis testing when a nuisance parameter is present only under the alternative. | In many practical problems, a hypothesis testing involves a nuisance parameter which appears only under the alternative hypothesis. Davies (1977, Biometrika 64, 247-254) proposed the maximum of the score statistics over the whole range of the nuisance parameter as a test statistic for this type of hypothesis testing. F... |
2,338,095 | Detection of t(14;18)(q32;q21) in B-cell chronic lymphocytic leukemia. | Cytomorphologic testing and multiparameter flow cytometry are the mainstays in diagnosing B-cell chronic lymphocytic leukemia, whereas fluorescence in situ hybridization that targets the translocation t(14;18)(q32;q21) often is used to identify follicular lymphoma. Therapy is highly diverse between both diseases. We de... |
2,338,096 | Cholestasis Familiaris Groenlandica: an epidemiological, clinical and genetic study. | Accumulation of Cholestasis Familiaris Groenlandica (CFG) or progressive familial intrahepatic cholestasis type 1 (PFIC1) occurs in indigenous Inuit families in Greenland. It is an autosomal recessive inherited liver disease. From early childhood the children suffer from failure to thrive, jaundice, pruritus and enlarg... |
2,338,097 | Molecular diagnostic techniques. | Molecular diagnostic techniques will continue to transform clinical microbiology. They provide more rapid and sensitive testing that impacts directly on clinical management of infected patients. Molecular diagnostic tests arose from the need to detect micro-organisms that are slow or difficult to grow, or that are pres... |
2,338,098 | personalized medicine and pharmacogenomics: ethical and social challenges. | Recent developments in human genetic variation research have fueled predictions of an imminent era of personalized medicine. Defined as a shift toward greater integrated and heuristic innovation in healthcare, personalized medicine seeks to create differentiated strategies for the prevention of disease defined at the m... |
2,338,099 | Pharmacogenetics and individualized medicine - bridging the gap between pharmacogenetic research and the patient. | A considerable component of the variability seen in drug response or drug disposition has been explained by pharmacogenetic factors. Thus, diagnosing inherited variability in molecules involved in drug response may help to optimize drug therapy and provide more individualized treatment. However, despite the availabilit... |
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