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2,339,000 | HDACi phenylbutyrate increases bystander killing of HSV-tk transfected glioma cells. | Malignant glioma patients have a dismal prognosis with an urgent need of new treatment modalities. Previously developed gene therapies for brain tumors showed promising results in experimental animal models, but failed in clinical trials due to low transfection rates and insufficient expression of the transgene in tumo... |
2,339,001 | Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1. | Identification of mutations, which cause genetic diseases can be difficult when the disease is caused by the mutation of a large gene, which contains multiple exons. Detection of these mutations by DNA sequencing can be made more efficient by using mutation detection methods for pre-screening to identify the affected e... |
2,339,002 | Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis. | Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease characterized by progressive kidney failure due to renal deposition of calcium oxalate. The disease is caused by a deficiency of alanine:glyoxylate aminotransferase (AGT) which catalyzes the conversion of glyoxylate to glycine. When AGT is absent, gly... |
2,339,003 | Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. | Genetically caused congenital deafness is a common trait affecting 1 in 2000 newborn children and is predominantly inherited in an autosomal recessive fashion. Genes such as the gap junction protein beta 2 (GJB2) encoding for Connexin (Cx26) and GJB6 (Cx30) are known to cause sensorineural deafness. Autosomal recessive... |
2,339,004 | Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness. | Mutations in the GJB2 gene are the most common cause of sensorineural non-syndromic deafness in different populations. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in many countries. The aim of this study was to determine the prevalence of GJB2 mutations and t... |
2,339,005 | The tau H2 haplotype is almost exclusively Caucasian in origin. | We have assessed the distribution of the tau H1/H2 haplotype in the publicly available reference series of samples with representatives of most racial groups. This analysis shows that the H2 haplotype is probably exclusively Caucasian in origin and its marginal occurrence in other racial groups is likely to reflect adm... |
2,339,006 | Assessment of CFTR function in rectal biopsies for the diagnosis of cystic fibrosis. | The Ussing chamber technique has contributed significantly to our understanding of the role of ion transport in the pathogenesis of human diseases like cystic fibrosis (CF). Here, we summarize protocols developed to study the Cl- channel function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein... |
2,339,007 | Microarray analysis in cystic fibrosis. | DNA microarrays provide a versatile platform for applications including gene expression analysis and genotyping. In the case of cystic fibrosis (CF), DNA microarrays enable the measurement of gene expression levels of thousands of genes in parallel, and potentially therefore, to identify non-CFTR genes down- or up-regu... |
2,339,008 | Diagnosis of cystic fibrosis in adults with diffuse bronchiectasis. | We assessed the contribution of the sweat test, genotyping and nasal potential difference (NPD) in the diagnosis of cystic fibrosis (CF) in adults with diffuse bronchiectasis (DB). Among 601 adults referred for DB from 1992 to 2001, 46 were diagnosed with CF. The sweat test was positive in 37 patients and normal or int... |
2,339,009 | A reverse genetic screen in Drosophila using a deletion-inducing mutagen. | We report the use of the cross-linking drug hexamethylphosphoramide (HMPA), which introduces small deletions, as a mutagen suitable for reverse genetics in the model organism Drosophila melanogaster. A compatible mutation-detection method based on resolution of PCR fragment-length polymorphisms on standard DNA sequence... |
2,339,010 | Mutation in the ED1 gene, Ala349Thr, in a Korean patient with X-linked hypohidrotic ectodermal dysplasia developing de novo. | Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the virtual absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is transmitted by an X-linked recessive gene or rarely an autosomal recessive gene. Therefore it is only males who fully express the condition. It is... |
2,339,011 | Investigating genetic discrimination in Australia: opportunities and challenges in the early stages. | Genetic discrimination, defined as the differential treatment of individuals or their relatives on the basis of actual or presumed genetic differences, is an emerging issue of interest in academic, clinical, social and legal contexts. While its potential significance has been discussed widely, verified empirical data a... |
2,339,012 | Genes and geneticization? The social construction of autosomal dominant polycystic kidney disease. | Critics of the new genetics argue that contemporary understandings of health and illness are becoming increasingly 'geneticized.' Salient implications of this critique are explored here within the context of Autosomal Dominant Polycystic Kidney Disease (PKD), a life-threatening genetic disease that causes fluid-filled ... |
2,339,013 | Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis. | Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic keratinization disorder, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, although two loci for DSAP have been identified, the genetic basis and pathogenesis... |
2,339,014 | Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. | Ten new and seventeen previously reported Enhanced S Cone Syndrome (ESCS) subjects were used to search for genetic heterogeneity. All subjects were diagnosed with ESCS on the basis of clinical, psychophysical and/or electroretinography testing using published criteria. Mutation analysis was performed on the NR2E3 nucle... |
2,339,015 | Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. | The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant genetic disease characterized by numerous basal cell carcinomas, odontogenic keratocysts of the jaws, palmar and plantal pits, skeletal abnormalities, and calcification of the falx cerebri. The gene responsible for this syndrome is the PTCH tumor... |
2,339,016 | Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. | Spinal muscular atrophy (SMA) is a common autosomal recessive disease. SMA is linked to the 5q13 locus in 95% of patients, and in at least 98% of them, the SMN1 homozygous deletion is found. Compound heterozygous patients, who have an SMN1 deletion associated with a subtle mutation, appear undeleted with the common mol... |
2,339,017 | [Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes]. | This study compares clinical and molecular genetic findings in patients with congenital cone dysfunction.</AbstractText>In this study 28 patients underwent a basic ophthalmologic examination. Except for a 1-year-old boy, color vision, perimetry, and full-field ERG (ISCEV standard) were evaluated in all patients. Blood ... |
2,339,018 | The prediction of disease risk in genomic medicine. | Scientific prospects and implications for public policy and ethics |
2,339,019 | Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice. | Mutations in Prophet of PIT1 (Prop1), one of several homeodomain transcription factors that are required for the development of the anterior pituitary gland, are the predominant cause of MPHD (multiple pituitary hormone deficiency) in humans. We show that deletion of Prop1 in mice causes severe pituitary hypoplasia wit... |
2,339,020 | Secondary verbal memory: a potential endophenotype of schizophrenia. | This study aimed at identifying neuropsychological endophenotypes of schizophrenia which met the criteria of stability and sensitivity. Twenty-six non-schizophrenic first-degree relatives together with their affected family members (all simplex-families) underwent assessment with a comprehensive neuropsychological test... |
2,339,021 | [Population-genetic structure of beaver (Castor fiber L., 1758) communities and estimation of effective reproductive size Ne of an elementary population]. | The absence of panmixia at all hierarchical levels of the European beaver communities down to individual families implies a complex organization of the population-genetic structures of the species, in particular, a large intergroup component of gene diversity in the populations. Testing this assumption by analysis of 3... |
2,339,022 | [Hereditary liver diseases]. | In recent years the identification and characterization of gene defects underlying hereditary liver diseases lead to a better understanding of their pathogenesis. Heditary hemochromatosis, Wilson's disease and alpha1-antitrypsin deficiency are the most common hereditary liver diseases. While gene defects and disease ma... |
2,339,023 | A novel hepatitis B virus genotyping system by using restriction fragment length polymorphism patterns of S gene amplicons. | Traditional hepatitis B virus (HBV) genotyping methods using restriction fragment length polymorphism (RFLP) can reliably identify genotypes A to F. As HBV genotypes G and H have been recently identified, this study was to establish an accurate and simple genotyping method for all eight HBV genotypes (A to H).</Abstrac... |
2,339,024 | Zebrafish and fly Nkx6 proteins have similar CNS expression patterns and regulate motoneuron formation. | Genes belonging to the Nkx, Gsh and Msx families are expressed in similar dorsovental spatial domains of the insect and vertebrate central nervous system (CNS), suggesting the bilaterian ancestor used this genetic program during CNS development. We have investigated the significance of these similar expression patterns... |
2,339,025 | Ethical issues in identifying and recruiting participants for familial genetic research. | Family-based research is essential to understanding the genetic and environmental etiology of human disease. The success of family-based research often depends on investigators' ability to identify, recruit, and achieve a high participation rate among eligible family members. However, recruitment of family members rais... |
2,339,026 | Selecting appropriate animal models and experimental designs for endocrine disruptor research and testing studies. | Evidence that chemicals in the environment may cause developmental and reproductive abnormalities in fish and wildlife by disrupting normal endocrine functions has increased concern about potential adverse human health effects from such chemicals. US laws have now been enacted that require the US Environmental Protecti... |
2,339,027 | Estimating the degree of saturation in mutant screens. | Large-scale screens for loss-of-function mutants have played a significant role in recent advances in developmental biology and other fields. In such mutant screens, it is desirable to estimate the degree of "saturation" of the screen (i.e., what fraction of the possible target genes has been identified). We applied Ba... |
2,339,028 | A genetic screen for dominant modifiers of a cyclin E hypomorphic mutation identifies novel regulators of S-phase entry in Drosophila. | Cyclin E together with its kinase partner Cdk2 is a critical regulator of entry into S phase. To identify novel genes that regulate the G1- to S-phase transition within a whole animal we made use of a hypomorphic cyclin E mutation, DmcycEJP, which results in a rough eye phenotype. We screened the X and third chromosome... |
2,339,029 | A screen for genes that interact with the Drosophila pair-rule segmentation gene fushi tarazu. | The pair-rule gene fushi tarazu (ftz) of Drosophila is expressed at the blastoderm stage in seven stripes that serve to define the even-numbered parasegments. ftz encodes a DNA-binding homeodomain protein and is known to regulate genes of the segment polarity, homeotic, and pair-rule classes. Despite intensive analysis... |
2,339,030 | An efficient Monte Carlo approach to assessing statistical significance in genomic studies. | Multiple hypothesis testing is a common problem in genome research, particularly in microarray experiments and genomewide association studies. Failure to account for the effects of multiple comparisons would result in an abundance of false positive results. The Bonferroni correction and Holm's step-down procedure are o... |
2,339,031 | Genetic screening, health care and the insurance industry. Should genetic information be made available to insurers? | The potential use of genetic tests in insurance has raised concerns about discrimination and individuals losing access to health care either because of refusals to test for treatable diseases, or because test-positives cannot afford premiums. Governments have so far largely sought to restrict the use of genetic informa... |
2,339,032 | Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. | We investigated mutations in the gene coding for guanylate-cyclase activating protein 2 (GCAP2), also known as GUCA1B gene, in Japanese patients with retinitis pigmentosa (RP) and tried to identify phenotypic characteristics associated with mutations in the gene.</AbstractText>Genomic DNA samples from 63 unrelated pati... |
2,339,033 | Association analysis of mild mental impairment using DNA pooling to screen 432 brain-expressed single-nucleotide polymorphisms. | We hypothesize that mild mental impairment (MMI) represents the low extreme of the same quantitative trait loci (QTLs) that operate throughout the distribution of intelligence. To detect QTLs of small effect size, we employed a direct association strategy by genotyping 432 presumably functional nonsynonymous single-nuc... |
2,339,034 | Colon cancer screening practices following genetic testing for hereditary nonpolyposis colon cancer (HNPCC) mutations. | Although increased colonoscopic surveillance is recommended for hereditary nonpolyposis colon cancer (HNPCC) mutation carriers, limited information is available on adherence to colorectal cancer screening recommendations. This study investigated colonoscopy practices following genetic testing for HNPCC mutations.</Abst... |
2,339,035 | Development of PCR assay based on ITS2 rDNA polymorphism for the detection and differentiation of Fusarium sporotrichioides. | A polymerase chain reaction assay was developed for detection of Fusarium sporotrichioides, a plant pathogen in many parts of the world. Based on small nucleotide differences in ITS2 (Internal Transcribed Spacer) rDNA of our local isolate of F. sporotrichioides (Accession No. AY510069) and other isolates found in NCBI/... |
2,339,036 | Zebrafish as a neurotoxicological model. | At a time when common regulatory pathways are being identified in several different species and genomics is beginning to allow comparisons of genes, how they are arranged on chromosomes and how they are regulated, zebrafish has emerged as a valuable and complementary vertebrate model. Some of the characteristics that p... |
2,339,037 | Association between a T/C polymorphism in intron 2 of cholesterol 24S-hydroxylase gene and Alzheimer's disease in Chinese. | A polymorphism (T/C) in intron 2 of the cholesterol 24-hydroxylase (CYP46) gene has recently been reported to be associated with the risk for late-onset Alzheimer's disease (LOAD). To investigate possible involvement of the CYP46 gene and apolipoprotein E (APOE) gene polymorphisms in the manifestation of LOAD, we analy... |
2,339,038 | Cancer risk assessment: quality and impact of the family history interview. | Identification of individuals at high risk for colon and breast cancer requires an adequate family history assessment and can influence cancer screening and genetic testing decisions. Little data exist that evaluate the completeness of the family history interview in primary care.</AbstractText>Retrospective chart revi... |
2,339,039 | [Principle of LAMP method--a simple and rapid gene amplification method]. | So far nucleic acid test (NAT) has been employed in various fields, including infectious disease diagnoses. However, due to its complicated procedures and relatively high cost, it has not been widely utilized in many actual diagnostic applications. We have therefore developed a simple and rapid gene amplification techn... |
2,339,040 | Ethical implications of pharmacogenetics--do slippery slope arguments matter? | Pharmacogenetics is a rapidly expanding area of research exploring the relationship between inter-individual genetic variation and drug response, with the goal of developing genetically optimised therapies. Slippery slope arguments claim that a particular action should be rejected (or supported) because it might be the... |
2,339,041 | Pharmacogenetic testing, informed consent and the problem of secondary information. | Numerous benefits for patients have been predicted if prescribing decisions were routinely accompanied by pharmacogenetic testing. So far, little attention has been paid to the possibility that the routine application of this new technology could result in considerable harm to patients. This article emphasises that pha... |
2,339,042 | Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene. | Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle, manifested as a life-threatening hypermetabolic crisis after exposure to anesthetics. Type I ryanodine receptor 1 is the primary gene responsible for susceptibility to MH as well as central core disease, a congenital myopathy that predisposes... |
2,339,043 | Production of gametangia by Phytophthora ramorum in vitro. | Until now gametangia have not been obtained between paired European A1 and American A2 isolates of Phytopthora ramorum in vitro. Their production in artificial culture relies on interspecific pairings. Using P. drechsleri and P. cambivora testers, 51 of 110 P. ramorum isolates from across Europe were all shown to be A1... |
2,339,044 | North American populations of Entoleuca mammata are genetically more variable than populations in Europe. | Entoleuca mammata (syn. Hypoxylon mammatum) is a damaging pathogen of Populus tremuloides and P. grandidentata in North America and P. tremula in Europe, where the fungus occurs only sporadically in alpine regions and Scandinavia. It has been hypothesized that E. mammata was introduced to Europe from North America. In ... |
2,339,045 | Mechanisms of sperm competition: testing the fair raffle. | Sperm competition is a major force of sexual selection, but its implications for mating system and life-history evolution are just beginning to be understood. Of particular importance is understanding the mechanisms of sperm competition. Models have been developed to determine if sperm competition operates in a fair ra... |
2,339,046 | A likelihood-based approach to estimating and testing for isolation by distance. | Simple regression of genetic similarities between pairs of populations on their corresponding geographic distances is frequently used to detect the presence of isolation by distance (IBD). However, these pairwise values are obviously not independent and there is no parametric procedure for estimating and testing for th... |
2,339,047 | A novel family with an unusual early-onset generalized dystonia. | We report on an Italian family in which three brothers and their maternal grandfather had a generalized early-onset dystonia with mild parkinsonian signs. Genetic testing excluded the rapid-onset dystonia-parkinsonism locus (DYT12; OMIM*128235), autosomal recessive Parkin locus (PARK2; OMIM *602544), and DYT1 dystonia.... |
2,339,048 | Bounds and normalization of the composite linkage disequilibrium coefficient. | The composite linkage disequilibrium (LD) measure is often calculated for two-locus genotypic data, especially when coupling and repulsion double heterozygotes cannot be distinguished. This measure was reported to have good statistical properties and was suggested for routine testing of LD, regardless of Hardy-Weinberg... |
2,339,049 | Women's satisfaction with genetic counseling for hereditary breast-ovarian cancer: psychological aspects. | Women who participate in BRCA1/2 cancer genetic counseling do so for a variety of reasons, including learning quantitative risk information about their chances of developing hereditary breast-ovarian cancer at some point during their lifetimes. For these women, obtaining pre-test and disclosure genetic counseling with ... |
2,339,050 | Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature. | Besides intron 22 factor VIII gene inversion (Inv22), intron 1 inversion (Inv1) has recently been reported as a further recurrent mutation that causes approximately 5% of severe haemophilia A (HA) cases. We analysed the presence of the Inv1 in a group of 64 severe HA-affected families from Argentina, and found only one... |
2,339,051 | Analysis of microsatellites and parentage testing in saltwater crocodiles. | Fifteen microsatellite loci were evaluated in farmed saltwater crocodiles for use in parentage testing. One marker (C391) could not be amplied. For the remaining 14, the number of alleles per locus ranged from two to 16, and the observed heterozygosities ranged from 0.219 to 0.875. The cumulative exclusion probability ... |
2,339,052 | Understanding human DNA sequence variation. | Over the past century researchers have identified normal genetic variation and studied that variation in diverse human populations to determine the amounts and distributions of that variation. That information is being used to develop an understanding of the demographic histories of the different populations and the sp... |
2,339,053 | Regulatory approaches to reproductive genetic testing. | This report analyses the ethical and legal aspects of reproductive genetic testing in 11 countries (Australia, Austria, Canada, France, Germany, India, Israel, Japan, The Netherlands, Switzerland and the UK). The legal status of reproductive genetic testing in the countries under analysis is difficult to generalize due... |
2,339,054 | HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: a study of 60000 samples in a clinical diagnostic laboratory. | Previous evaluations of HPLC as a tool for detection of hemoglobin variants have done so within newborn-screening programs and/or by use of stored samples. We describe a 32-month prospective study in a clinical diagnostic laboratory in which we evaluated the imprecision of HPLC retention times and determined the retent... |
2,339,055 | Diabetes mellitus in adults: association of HLA DRB1 and DQB1 diabetes risk alleles with GADab presence and C-peptide secretion. | In our study, we investigated the relationship of HLA class II alleles to antibody production against glutamic acid decarboxylase (GADab) and to C-peptide secretion (CP) in diabetic patients. A group of 334 patients (190 women) diagnosed after 35 years of age and 99 control subjects were studied. Patients were divided ... |
2,339,056 | Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance. | The first Italian national trial of external quality assessment in genetic testing was organised within the framework of the "Italian National Project for Standardisation and Quality Assurance of Genetic Tests". Sixty-eight Public Health Service laboratories volunteered for the trial, which involved molecular genetic t... |
2,339,057 | Using the common sense model to understand perceived cancer risk in individuals testing for BRCA1/2 mutations. | The common sense model posits that individuals' understanding of illness is based upon somatic symptoms and life experiences and thus may differ significantly from the biomedical view of illness. The current study used the common sense model to understand cancer risk perceptions in 99 individuals testing for BRCA1/2 mu... |
2,339,058 | Knowledge of risk management strategies, and information and risk management preferences of women at increased risk for ovarian cancer. | Little research is available on the level of knowledge about ovarian cancer risk management options in women at increased risk for this disease. The study objectives were to evaluate this together with the information and ovarian cancer risk management preferences of high-risk women. One hundred and twenty-nine women w... |
2,339,059 | Germline mosaicism complicates molecular diagnosis of Lesch-Nyhan syndrome. | A healthy female with a brother suffering from Lesch-Nyhan syndrome was assigned a carrier status on the basis of haplotype analysis employing flanking and intragenic polymorphic markers of the HPRT gene. Her mother has been confirmed as a definite carrier by cell growth selection studies in cultured fibroblasts. In ou... |
2,339,060 | Genomic analysis of prostate carcinoma specimens obtained via ultrasound-guided needle biopsy may be of use in preoperative decision-making. | The widespread use of prostate-specific antigen (PSA) testing to screen for prostate carcinoma has led to significant overdiagnosis, due to the frequent detection of indolent malignancies on PSA screening. The detection of abnormal PSA levels typically is followed by ultrasound-guided needle biopsy. Therefore, in an ef... |
2,339,061 | Examining the terminal investment hypothesis in humans and chimpanzees: associations among maternal age, parity, and birth weight. | The terminal investment hypothesis (Williams [1966] Adaptation and Natural Selection; Princeton, NJ: Princeton University Press) holds that reproductive effort should increase over time in iteroparous species in which reproductive value declines with age. Attempts to model this hypothesis and test it in various species... |
2,339,062 | Evidence and characteristics of putative human alpha recombination hotspots. | Understanding recombination rate variation is very important for studying genome diversity and evolution, and for investigation of phenotypic association and genetic diseases. Recombination hotspots have been observed in many species and are well studied in yeast. Recent study demonstrated that recombination hotspots a... |
2,339,063 | Safety concerns related to hematopoietic stem cell gene transfer using retroviral vectors. | Endogenous retroviruses have developed efficient methods during their life cycle for stable integration into the host genome. Because of this ability, retroviral vectors were designed with the goal of gene transfer into hematopoietic stem cells (HSCs). The ability to genetically modify HSCs provides a vehicle for durab... |
2,339,064 | Supporting patients through genetic screening for cancer risk. | A format for obtaining a genetic family health history is presented, along with a discussion of the importance of psychosocial support surrounding the genetic screening process and the responsibility for the maintenance of the privacy of medical records of patients who elect to undergo genetic screening, are presented. |
2,339,065 | Field and storage testing Bt potatoes for resistance to potato tuberworm (Lepidoptera: Gelichiidae). | Potato tuberworm, Phthorimaea operculella (Zeller), is the most serious insect pest of potatoes worldwide. The introduction of the Bacillus thuringiensis (Bt) toxin gene through genetic engineering offers host plant resistance for the management of potato tuberworm. We report on the field and storage studies to evaluat... |
2,339,066 | Single nucleotide polymorphism analysis in the human phosphatase PTPrj gene using matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry. | Data derived from analysis of single nucleotide polymorphisms (SNPs) are being applied in many diverse fields, from medical studies of disease mechanisms and individual drug response, to population genetics for tracking migration and mixing of ancestral groups and also in forensic science for the identification of huma... |
2,339,067 | Medullary cystic kidney disease type 1 in a large Native-American kindred. | Autosomal dominant medullary cystic kidney disease type 1 (MCKD1; Mendelian Inheritance in Man 174000) is a hereditary tubulointerstitial renal disease. For MCKD1, a locus on chromosome 1q21 is published. Although there are characteristic biopsy and imaging findings for MCKD, clinical diagnosis of this disorder is stil... |
2,339,068 | Recent mammalian gene duplications: robust search for functionally divergent gene pairs. | Comparison of 317 gene pairs in human and mouse that were duplicated after the most recent common ancestor of the two species was used to search for candidates that may have undergone functional differentiation. Even when corrected for multiple tests, Tajima's relative rate test showed significant rate differences in 3... |
2,339,069 | Cutting edge: heterozygote advantage in autoimmune disease: hierarchy of protection/susceptibility conferred by HLA and killer Ig-like receptor combinations in psoriatic arthritis. | Functionally relevant combinations of HLA and killer Ig-like receptor (KIR) genotypes influence resistance to several diseases in humans. Analysis of genetic data from such studies is challenging because it involves multiple linked and unlinked loci that exert their influence in an epistatic manner. We previously repor... |
2,339,070 | Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. | A family history of certain cancers is associated with an increased risk of developing cancer. Both cancer screening and genetic services referral decisions are often based on self-reported pedigree information.</AbstractText>To determine the accuracy of self-reported family cancer history information.</AbstractText>En... |
2,339,071 | The "duty to warn" a patient's family members about hereditary disease risks. | Genetic tests for adult-onset disorders, including common forms of cancer, are now commercially available, and tests for genetic polymorphisms that predict drug effects or toxicity after treatment are under development. For each of these circumstances, testing of 1 individual may imply an increased risk to his/her rela... |
2,339,072 | Activity of rifampin against Mycobacterium tuberculosis in a reference center. | Rifampin is a bactericidal antibiotic that acts both on extra- and intracellular bacilli. It inhibits RNA synthesis by binding to the beta-subunit in the RNA polymerase. A study was conducted on rifampin resistance from 1993 to 2002 with 1,794 Mycobacterium tuberculosis strains submitted to Mycobacteria Reference Cente... |
2,339,073 | Creating clones, kids & chimera: liberal democratic compromise at the crossroads. | The objective of this article is to find middle ground between the supporters and opponents of biotechnology by perpetuating the existing legal compromise pertaining to the complete range of health and welfare doctrines relevant to the biotechnological industry. The author aspires neither to add to nor detract from thi... |
2,339,074 | A comparative study of culture-independent, library-independent genotypic methods of fecal source tracking. | Culture-independent fecal source tracking methods have many potential advantages over library-dependent, isolate-culture methods, but they have been subjected to limited testing. The purpose of this study was to compare culture-independent, library-independent methods of fecal source tracking. Five laboratories analyse... |
2,339,075 | An X-linked three allele model of hand preference and hand posture for writing. | This paper describes a genetic model of hand preferences for writing and for handwriting posture (HWP). The challenge of devising an X-linked model for these aspects of human handedness was posed by the results of a large family handedness study (McKeever, 2000) that showed evidence of such linkage. Because X-linkage f... |
2,339,076 | Inherited predisposition to early onset lung cancer according to histological type. | The role of hereditary factors in lung cancer is less well understood than in many other human neoplastic diseases. We used a nation-wide family dataset to search for evidence for a genetic predisposition in lung cancer. The Swedish Family-Cancer Database includes all Swedes born in 1932 and later (0- to 68-year-old of... |
2,339,077 | Prevention of breast cancer in women who carry BRCA1 or BRCA2 mutations: a critical review of the literature. | The purpose of our study was to review the evidence for the efficacy of surveillance for early detection, bilateral prophylactic mastectomy, prophylactic oophorectomy and chemoprevention in preventing breast cancer and improving survival of BRCA1 or BRCA2 carriers. A critical review of journal articles published betwee... |
2,339,078 | Genetic counseling program in familial breast cancer: analysis of its effectiveness, cost and cost-effectiveness ratio. | Women with a family history of breast cancer are at increased risk for developing this neoplasm. Starting surveillance more frequently at a younger age than the general population and the possibility of undergoing genetic testing are options for their medical management. We analyzed the benefits and costs of our clinic... |
2,339,079 | The BOADICEA model of genetic susceptibility to breast and ovarian cancer. | Several genes conferring susceptibility to breast and ovarian cancer, notably BRCA1 and BRCA2, have been identified. The majority of the familial aggregation of breast cancer is, however, not explained by these genes. We have previously derived, using segregation analysis, a susceptibility model (BOADICEA, Breast and O... |
2,339,080 | Huntington disease: a case study of early onset presenting as depression. | Huntington disease is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia, usually with adult onset. The rare juvenile-onset Huntington disease differs from the adult phenotype. A case presenting twice, at age 10 with all the signs of a major depression and a... |
2,339,081 | ACE1 polymorphism and progression of SARS. | We have hypothesized that genetic predisposition influences the progression of SARS. Angiotensin converting enzyme (ACE1) insertion/deletion (I/D) polymorphism was previously reported to show association with the adult respiratory distress syndrome, which is also thought to play a key role in damaging the lung tissues ... |
2,339,082 | Association of a CAG/CAA repeat sequence in the TBP gene with type I diabetes. | Type I diabetes is a complex disease in which multiple susceptibility loci have been implicated by whole genome scans. IDDM8, a susceptibility locus, is located on chromosome 6q27, however the specific susceptibility gene has yet to be identified. We have examined five potential candidate genes using 36 genetic markers... |
2,339,083 | Evidence of ABL-kinase domain mutations in highly purified primitive stem cell populations of patients with chronic myelogenous leukemia. | To study the hierarchical levels of stem cell targets for ABL-kinase domain mutations in CML, highly purified CD34+CD38- and CD34+CD38+ cell populations and their LTC-IC-derived progeny were analyzed in four patients at diagnosis (n=1) or in advanced phases (n=3) of their disease. In the single patient with early phase... |
2,339,084 | Myoclonus: current concepts and recent advances. | Myoclonus presents as a sudden brief jerk caused by involuntary muscle activity. An organisational framework is crucial for determining the medical significance of the myoclonus as well as for its treatment. Clinical presentations of myoclonus are divided into physiological, essential, epileptic, and symptomatic. Most ... |
2,339,085 | Ethical implications in genetic counseling and family studies of the epilepsies. | Most of the inherited epilepsies do not follow a Mendelian inheritance pattern but rather are complex disorders. This leads us to reconsider the traditional ethical framework applying to genetics, which is still based largely on the understanding of Mendelian inheritance, to ethically use the genetic tests likely to be... |
2,339,086 | CFTR mutations and polymorphisms in male infertility. | Apart from cystic fibrosis, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are also involved in congenital bilateral absence of the vas deferens (CBAVD). A mutation is identified in about 80% of the CFTR genes derived from CBAVD patients; the genetic defect in the remainder is yet unkn... |
2,339,087 | Targeting the ERK pathway: novel therapeutics for thyroid cancer. | Over the past two decades significant progress has been made in elucidating the pathogenesis of thyroid cancer. The ongoing identification of mutations in cellular signaling pathways has revolutionized the field of thyroid cancer biology and has led to the development of novel new therapeutic agents. One of the signali... |
2,339,088 | SNP discovery and typing technologies for pharmacogenomics. | Genetic variation in the human genome occurs predominantly as single nucleotide polymorphisms (SNPs). Our DNA may contain as many as ten million SNPs, of which three million or more are likely to differ between any two unrelated individuals. These three million genetic differences make a significant contribution to the... |
2,339,089 | Genotyping as a tool to predict adverse drug reactions. | During the last decades, the rapid development in molecular biology has contributed to the understanding of genetic factors underlying many adverse drug reactions. Until recently, most research in this area has focused on genes coding for drug-metabolizing enzymes. Inactivating mutations have been found in genes coding... |
2,339,090 | "The lion, the witch and the wardrobe": impact on sibs of individuals with AAT deficiency. | Alpha(1)-antitrypsin (AAT) deficiency is a genetic disorder that may cause serious pulmonary or liver impairment in children or adults. Although genetic sequencing of the AAT gene has only been available for 20 years, analysis of the amount and electrophoretic mobility of the AAT protein has allowed clinical phenotypin... |
2,339,091 | BRCA1/2 testing in hereditary breast and ovarian cancer families: effectiveness of problem-solving training as a counseling intervention. | It remains uncertain whether members of hereditary breast and ovarian cancer (HBOC) families experience psychological distress with genetic testing and whether pre-test counseling can have a moderating effect on client well-being. One purpose of this study was to assess change in psychological well-being from baseline ... |
2,339,092 | Exploratory study of the feasibility and utility of the colored eco-genetic relationship map (CEGRM) in women at high genetic risk of developing breast cancer. | We report here the results of an exploratory feasibility study of the colored eco-genetic relationship map (CEGRM), a novel, recently-developed psychosocial assessment tool, which incorporates features of the genetic pedigree, family systems genogram, and ecomap. The CEGRM presents a simple, concise, visual representat... |
2,339,093 | Neurologic course, endocrine dysfunction and triplet repeat size in spinal bulbar muscular atrophy. | To study the role of diabetes, gynecomastia and CAG triplet repeat size as disease modifying factors of neurologic expression in spinal bulbar muscular atrophy (SBMA, Kennedy's disease).</AbstractText>Twenty unrelated SBMA patients with confirmatory genetic testing were reviewed. Patterns of neurologic involvement were... |
2,339,094 | Screen for genes differentially expressed during regeneration of the zebrafish caudal fin. | The zebrafish caudal fin constitutes an important model for studying the molecular basis of tissue regeneration. The cascade of genes induced after amputation or injury, leading to restoration of the lost fin structures, include those responsible for wound healing, blastema formation, tissue outgrowth, and patterning. ... |
2,339,095 | Comprehensive genetics clinic for familial tumors: proposal for a suitable system in Japan. | With the progress of the Human Genome Project, genetic testing has become widely available and useful in several kinds of familial cancer. As the results of the genetic testing may predict future onset of the disease and/or may influence other family members, clinical oncologists have to consider the psychological chal... |
2,339,096 | Familial breast and ovarian cancers. | About 60% of familial breast and ovarian cancers in Japan involve germline mutations of the BRCA1 or BRCA2 ( BRCA1/2) genes. These genes contribute to genetic stability and DNA repair and act as tumor suppressor genes. Mutation analysis of the BRCA1/2 genes has improved our understanding of both common mutation pattern... |
2,339,097 | Molecular genetic diagnosis of familial tumors. | Recent advances in molecular biology have identified the responsible genes for many hereditary cancer syndromes (familial tumors). Therefore, now, the final diagnosis of familial tumors can be done by molecular methods to detect the genetic alteration in the disease-causing responsible gene(s) in the patient. So-called... |
2,339,098 | Statistical methods of translating microarray data into clinically relevant diagnostic information in colorectal cancer. | It is a common practice in cancer microarray experiments that a normal tissue is collected from the same individual from whom the tumor tissue was taken. The indirect design is usually adopted for the experiment that uses a common reference RNA hybridized both to normal and tumor tissues. However, it is often the case ... |
2,339,099 | A semiparametric approach for marker gene selection based on gene expression data. | Identification of differentially expressed genes is a major issue in gene expression data analysis and selection of marker genes is critical in tumor classification using gene expression data. In this paper, we propose a semiparametric two-sample test to identify both differentially expressed genes and select marker ge... |
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