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2,337,600 | Central nervous system manifestations in VHL: genetics, pathology and clinical phenotypic features. | This review focuses on CNS hemangioblastomas in von Hippel-Lindau (VHL) disease. The pathogenesis of these lesions remains unclear to date; however, biallelic inactivation of the VHL tumor suppressor gene is thought to be an important step. These benign tumors occur frequently in patients with VHL disease and produce s... |
2,337,601 | Multiple endocrine neoplasia type 2. | Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant inherited cancer syndrome. Predisposition to MEN 2 is caused by germline mutations of the RET proto-oncogene on chromosome 10q11.2 [1]. There are three clinically distinct forms of MEN 2 syndrome -- MEN 2A, familial medullary thyroid carcinoma (FMTC),... |
2,337,602 | Growth hormone injections improve bone quality in a mouse model of osteogenesis imperfecta. | Systemic growth hormone injections increased spine and femur length in a mouse model of OI. Femur BMC, cross-sectional area, and BMD were increased. Smaller gains were produced in vertebral BMC and cross-sectional area. Biomechanical testing showed improvements to structural and material properties in the femur midshaf... |
2,337,603 | Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations. | The authors report two families with a myopathy phenotype affecting only women, marked by asymmetric weakness, skeletal asymmetry, and an elevated hemidiaphragm. One family had a mutation in a stop codon in exon 9 of the myotubularin gene, and the other had a splice site mutation in exon 13. Both families had manifesti... |
2,337,604 | LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. | LGMD type 2I, caused by mutations in the fukutin-related protein, is a common form of LGMD. The phenotype resembles Duchenne/Becker muscular dystrophy. A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutat... |
2,337,605 | Patterns of inheritance in familial ALS. | We investigated 185 families with ALS for evidence of anticipation and mitochondrial inheritance. Although initial analysis demonstrated significant anticipation of age at death between generations in patients with familial ALS, further analysis demonstrated features of regression to the mean, suggesting that the perce... |
2,337,606 | High incidence of genetic human transmissible spongiform encephalopathies in Italy. | To assess the incidence and mortality rates of genetic transmissible spongiform encephalopathy (TSE) diseases in Italy.</AbstractText>The authors have sequenced the prion protein gene (PRNP) in 643 patients referred to the Italian Registry of Creutzfeldt-Jakob disease (CJD) and related disorders between 1993 and 2002. ... |
2,337,607 | A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. | Frontotemporal dementia with parkinsonism is often linked to chromosome 17 and is related to mutations in the MAPT gene. In some families the genetic basis is still unknown. The authors report two pedigrees with FTDP-17 harboring a novel mutation (K317M) in exon 11 in the MAPT gene.</AbstractText>The authors identified... |
2,337,608 | APOE genotype, cholesterol level, lipid-lowering treatment, and dementia: the Three-City Study. | To examine the association of plasma cholesterol levels, lipid-lowering agent (LLA) intake, and APOE genotype with dementia prevalence.</AbstractText>The Three-City Study is a population-based cohort of 9,294 subjects selected from the electoral rolls of three French cities (Bordeaux, Dijon, Montpellier). Baseline exam... |
2,337,609 | The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or Nasu-Hakola disease, is a presenile dementia associated with loss of myelin, basal ganglia calcification, and bone cysts. It is caused by recessively inherited mutations in two genes encoding subunits of a cell membrane-associated ... |
2,337,610 | UCHL1 is associated with Parkinson's disease: a case-unaffected sibling and case-unrelated control study. | To avoid the possible confounding effect of population stratification, we employed a discordant sibling study design and a liberalization of the sibling transmission disequilibrium test to confirm the association of the S18Y variant of the ubiquitin carboxi-terminal hydrolase L1 (UCHL1) gene with Parkinson's disease (P... |
2,337,611 | The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder. | Several genetic studies have revealed that bipolar disorders are linked with the chromosomal locus of 15q11-q13, where the gamma-aminobutyric acid (GABA) receptor alpha5 subunit gene (GABRA5) locates. GABA is one of the major neurotransmitters that may be involved in the pathogenesis of bipolar disorder. Five polymorph... |
2,337,612 | Lack of evidence for association between the serotonin transporter gene (SLC6A4) polymorphisms and autism in the Chinese trios. | Serotonin regulates several aspects of brain development, and it is involved in a range of behaviors frequently disturbed in autistic disorder. The serotonin transporter is a critical component of the serotonergic system. The serotonin transporter gene (SLC6A4) is of special interest given the nature of the biological ... |
2,337,613 | Clinical pharmacogenetics of immunosuppressive drugs in organ transplantation. | Organ transplantation has become an important additional option for patients with organ failure. Immunosuppressive drugs showing a very narrow therapeutic window have to be administered. Different transporters and metabolic pathways are responsible for absorption and metabolism of these drugs; for instance, the P-glyco... |
2,337,614 | Testing hypotheses regarding the genetics of adaptation. | Many of the hypotheses regarding the genetics of adaptation require that one know specific details about the genetic basis of complex traits, such as the number and effects of the loci involved. Developments in molecular biology have made it possible to create relatively dense maps of markers that can potentially be us... |
2,337,615 | Application of genomewide SNP arrays for detection of simulated susceptibility loci. | The prospect of SNP-based genomewide association analysis has been extensively discussed, but practical experiences remain limited. We performed an association study using a recently developed array of 11,555 SNPs distributed throughout the human genome. A total of 104 DNA samples were hybridized to these chips with an... |
2,337,616 | High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients. | Morbus Osler or HHT (hereditary hemorrhagic telangiectasia) is a disorder of the fibrovascular tissue that is inherited in an autosomal dominant way with frequency rates between 1:2,500 and 1:40,000. The disease provokes malformations of the blood vessels sometimes resulting in life-threatening complications. Presently... |
2,337,617 | Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods. | In recent years, subtelomeric rearrangements, e.g., chromosome deletions or duplications too small to be detected by conventional cytogenetic analysis, have emerged as a significant cause of both idiopathic and familial mental retardation. As mental retardation is a common disorder, many patients need to be tested on a... |
2,337,618 | Male BRCA1 and BRCA2 mutation carriers: a pilot study investigating medical characteristics of patients participating in a prostate cancer prevention clinic. | Male BRCA1 and BRCA2 mutation carriers are at an increased risk to develop prostate cancer and are subject to screening protocols for high-risk men. The utility of targeted screening, and the clinical and pathological features associated with prostate cancer, have received little attention in this population.</Abstract... |
2,337,619 | Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories. | Genetic testing in a clinical diagnostic environment must be subject to rigorous quality control procedures, in order to ensure consistency and accuracy of results. Denaturing high performance liquid chromatography (DHPLC) has become a standard prescreening tool for mutation detection, offering very high efficiency and... |
2,337,620 | A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes. | The authors propose a novel approach to evaluate the effects of risk factors on disease risks in carriers of high-penetrance alleles in disease susceptibility genes. Most studies to date have utilised data collected on carriers identified through ongoing genetic testing programs. The advantage of this approach is that ... |
2,337,621 | The genetics of thin basement membrane nephropathy. | The diagnosis of thin basement membrane nephropathy (TBMN) usually is made on the basis of the clinical features or the glomerular membrane ultrastructural appearance. Only now are we beginning to understand the genetics of TBMN and the role of diagnostic genetic testing. The similarity of clinical and glomerular membr... |
2,337,622 | Multiple endocrine neoplasia type 2B and Hirschsprung's disease. | Multiple endocrine neoplasia type 2B and Hirschsprung's disease are genetic disorders characterized by gross and/or microscopic pathology of the enteric nervous system and associated dysmotility. A specific missense mutation in the RET proto-oncogene is the etiology of multiple endocrine neoplasia type B, in contrast t... |
2,337,623 | Molecular characterization of TEM-type beta-lactamases identified in cold-seep sediments of Edison Seamount (south of Lihir Island, Papua New Guinea). | To determine the prevalence and genotypes of beta-lactamases among clones of a metagenomic library from the cold-seep sediments of Edison seamount (10,000 years old), we performed pulse-field gel electrophoresis, antibiotic susceptibility testing, pI determination, and DNA sequencing analysis. Among the 8,823 clones of... |
2,337,624 | Patients with a family history of cancer: identification and management. | A family history of certain malignancies, especially breast, ovarian, colorectal, and prostate cancers, can place persons at increased risk of developing these cancers. By constructing a pedigree that includes 3 generations, family physicians can identify patients at increased risk because of family cancer history. Per... |
2,337,625 | Primary pulmonary synovial sarcoma confirmed by molecular detection of SYT-SSX1 fusion gene transcripts: a case report and review of the literature. | This is a case report of a rare patient with primary pulmonary synovial sarcoma. The patient was a 58-year-old woman who presented with a well-defined giant mass in the right lower field on a chest radiograph. A malignant pulmonary tumor was suspected and consequently a right middle and lower lobectomy was performed. G... |
2,337,626 | Ensemble dependence model for classification and prediction of cancer and normal gene expression data. | DNA microarray technologies make it possible to simultaneously monitor thousands of genes' expression levels. A topic of great interest is to study the different expression profiles between microarray samples from cancer patients and normal subjects, by classifying them at gene expression levels. Currently, various clu... |
2,337,627 | Clinical advances in the diagnosis and therapy of the interstitial lung diseases. | The last century experienced remarkable advances in the classification, diagnosis, and understanding of the pathogenesis of the interstitial lung diseases. Technological advances, particularly physiologic testing, lung imaging studies, bronchoalveolar lavage, surgical lung biopsy, and histopathologic assessment, improv... |
2,337,628 | Interallelic class switch recombination contributes significantly to class switching in mouse B cells. | Except for the expression of IgM and IgD, DNA recombination is constantly needed for the expression of other Ig classes and subclasses. The predominant path of class switch recombination (CSR) is intrachromosomal, and the looping-out and deletion model has been abundantly documented. However, switch regions also occasi... |
2,337,629 | Expression, purification, and functional testing of recombinant CYR61/CCN1. | The human cysteine-rich protein 61 (CYR61/CCN1) belongs to the CCN family of genes which plays an important role in cellular processes such as proliferation, migration, adhesion, and differentiation. These extracellular matrix signaling molecules consist of a modular structure and contain 38 conserved cysteine residues... |
2,337,630 | Skeletal dysplasias. | This review is intended to help the neonatologist who is asked to see a baby or speak to parents who are expecting a baby with signs of a generalised disturbance of bone growth and/or modelling. In this review, we will: define a skeletal dysplasia; discuss the presenting features of a skeletal dysplasia in pregnancy an... |
2,337,631 | Testing the trend towards specialization in herbivore-host plant associations using a molecular phylogeny of Tomoplagia (Diptera: Tephritidae). | Herbivorous insects are abundant and diverse and insect-host plant associations tend to be specialized and evolutionarily conserved. Some authors suggested that generalist insect lineages tend to become specialists, with host specialization leading to an evolutionary dead-end for the parasite species. In this paper, we... |
2,337,632 | The genetic-environmental etiology of parents' perceptions and self-assessed behaviours toward their 5-month-old infants in a large twin and singleton sample. | Given the importance of parenting for the child's early socio-emotional development, parenting perceptions and behaviours, and their correlates, should be assessed as early as possible in the child's life. The goals of the present study were 1) to confirm, in two parallel population-based samples, including a large sam... |
2,337,633 | The Abantu phenotype in the ABO blood group system is due to a splice-site mutation in a hybrid between a new O1-like allelic lineage and the A2 allele. | Many phenotypic variations in the expression of blood group A have been explained by variations in gene structure, but unresolved samples are frequently encountered in the reference laboratory. Among ABO subgroups, A(bantu) has the highest frequency in a specified population. The molecular basis of this phenotype is no... |
2,337,634 | Yeast evolution and comparative genomics. | Recent sequencing efforts and experiments have advanced our understanding of genome evolution in yeasts, particularly the Saccharomyces yeasts. The ancestral genome of the Saccharomyces sensu stricto complex has been subject to both whole-genome duplication, followed by massive sequence loss and divergence, and segment... |
2,337,635 | An efficient construction of conditionally replicating adenoviruses that target tumor cells with multiple factors. | Despite the enormous potential of conditionally replicating adenoviruses (CRAs), the time-consuming and laborious methods required to construct CRAs have hampered both the development of CRAs that can specifically target tumors with multiple factors (m-CRA) and the efficient analysis of diverse candidate CRAs. Here, we... |
2,337,636 | Inheritance of seed dormancy in Tibetan semi-wild wheat accession Q1028. | Tibetan semi-wild wheat (Triticum aestivum ssp. tibetanum Shao) is one of the Chinese endemic hexaploid wheat genetic resources, distributed only in the Qinghai-Xizang Plateau of China. It has special characters, such as a hulled glume and spike disarticulation. However, seed dormancy, another important character for w... |
2,337,637 | Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis. | The genetic and clinical profile of autosomal dominant cerebellar ataxias (ADCA) displays marked geographical and ethnical variability.</AbstractText>We have analysed the molecular and clinical correlations in an ethnically homogeneous sample of 30 Spanish ADCA kindreds. Minimal point prevalence for the region of Canta... |
2,337,638 | G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients. | To determine whether the G309D and W437OPA mutations in PINK1 gene are present in American Caucasian population of patients with Parkinson's disease (PD).</AbstractText>We searched for the G309D and W437OPA mutation by sequencing the regions of interest in the PINK1 gene in 237 unrelated Caucasian patients.</AbstractTe... |
2,337,639 | Predictive genetic testing for Alzheimer's disease: impact upon risk perception. | The aim of this study was to determine the impact on risk perceptions of disclosing genetic test results used to estimate the risk of Alzheimer's disease (AD). Adult children (n = 149) of people with AD were randomized to one of two groups--Intervention group: lifetime risk estimates of AD based on age, gender, family ... |
2,337,640 | The role of dental evaluation and cephalometric analysis in the diagnosis of Williams-Beuren syndrome. | Williams-Beuren syndrome (WS) is a genetic condition with an incidence of 1 in 20,000-50,000 live births. The syndrome consists of supravalvular aortic stenosis, characteristic dysmorphic facial features named "elf face" and intellectual disability. Early diagnosis of the syndrome is important since many of its feature... |
2,337,641 | Legal implications of pharmacogenomics regarding drug trials, drug labeling, and genetic testing for drug prescription: an international approach. | Pharmacogenomics applies genomic technology to discover and develop drugs as well as to treat patients more effectively. This article addresses legal questions raised by pharmacogenomics, from drug development to drug use. Part II defines pharmacogenomics in further detail and explains the use of pharmacogenomics in dr... |
2,337,642 | Chronic pancreatitis with pancreaticolithiasis and pseudocyst in a 5-year-old boy with homozygous SPINK1 mutation. | We report a 5-year-old boy with a 5-month history of symptoms owing to chronic pancreatitis. Abdominal imaging revealed a large pseudocyst in the pancreatic tail and concretions in the main pancreatic duct. Successful endoscopic papillotomy and stent implantation were performed. Genetic testing showed homozygous SPINK1... |
2,337,643 | Pitfalls in the diagnosis of cervical intraepithelial neoplasia 1. | This review article outlines the issues involved in (1) the cytologic diagnosis of low-grade squamous intra-epithelial lesion (cervical intraepithelial neoplasia [CIN] 1), (2) histologic diagnosis of CIN 1, (3) the advantages and disadvantages of various management strategies for CIN 1 confirmed by biopsy, and (4) the ... |
2,337,644 | Isothermal RNA sequence amplification method for rapid antituberculosis drug susceptibility testing of Mycobacterium tuberculosis. | RNA transcript quantification by an isothermal sequence amplification reaction was evaluated for susceptibility testing of 15 Mycobacterium tuberculosis strains. Agreement with the proportion method on Ogawa egg medium and the BACTEC MGIT 960 system was 100 and 87% for rifampin, 93 and 100% for isoniazid, 60 and 53% fo... |
2,337,645 | Comparison of a real-time reverse transcriptase PCR assay and a culture technique for quantitative assessment of viral load in children naturally infected with respiratory syncytial virus. | Respiratory syncytial virus (RSV) is the most common cause of lower respiratory infection of children. Understanding RSV pathogenesis and evaluating interventions requires quantitative RSV testing. Previous studies have used the plaque assay technique. Real-time reverse transcriptase PCR (RTrtPCR) offers possible great... |
2,337,646 | Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). | Germ-line mutations in the mismatch-repair genes MLH1, MSH2, MSH6, and PMS2 lead to the development of the Lynch syndrome (hereditary nonpolyposis colorectal cancer), conferring a strong susceptibility to cancer. We assessed the frequency of such mutations in patients with colorectal cancer and examined strategies for ... |
2,337,647 | Polymorphisms in the IL-12B gene and outcome of HCV infection. | Most people with hepatitis C virus (HCV) develop chronic infection with persistent viremia. Resolution of infection is associated with antiviral cellular immune responses of T helper 1 (Th1) type. Interleukin-12 (IL-12) is a key cytokine in the generation of Th1 responses, and functionally relevant polymorphisms of the... |
2,337,648 | The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study. | Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency is assumed to be the most common inherited disorder of mitochondrial fatty acid oxidation. Few reports mention the difference between the expected and observed prevalence of MCAD deficiency on the basis of the carrier frequency in the population. We performed... |
2,337,649 | Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs. | Genetic testing of the cystic fibrosis transmembrane conductance (CFTR) gene is currently performed in couples undergoing assisted reproduction techniques (ART), because of the high prevalence of healthy carriers in the population and the pathogenic relationship with congenital bilateral absence of vas deferens (CBAVD)... |
2,337,650 | Genetic modifiers interact with Cpe(fat) to affect body weight, adiposity, and hyperglycemia. | Obesity and Type II diabetes are complex diseases in the human population. The existence of a large number of contributing loci and gene-gene as well as gene-environment interactions make it difficult to identify the disease genes underlying these complex traits. In mouse models of obesity and Type II diabetes such as ... |
2,337,651 | How many clones need to be sequenced from a single forensic or ancient DNA sample in order to determine a reliable consensus sequence? | Forensic and ancient DNA (aDNA) extracts are mixtures of endogenous aDNA, existing in more or less damaged state, and contaminant DNA. To obtain the true aDNA sequence, it is not sufficient to generate a single direct sequence of the mixture, even where the authentic aDNA is the most abundant (e.g. 25% or more) in the ... |
2,337,652 | Enhanced blood coagulation and fibrinolysis in mice lacking histidine-rich glycoprotein (HRG). | Histidine-rich glycoprotein (HRG) is a serum protein belonging to the cystatin superfamily. HRG may play a regulatory role in hemostasis and innate immunity. However, this role is uncertain because of a lack of rigorous testing in an animal model. We generated mice lacking the translation start point of exon 1 of the H... |
2,337,653 | Activity and therapeutic potential of ORI-1001 antisense oligonucleotide on human papillomavirus replication utilizing a model of dysplastic human epithelium. | Human Papillomaviruses (HPVs) are small double-stranded DNA viruses that infect the cutaneous or mucosal epithelium. The high-risk genital HPVs are associated with squamous intraepithelial lesions of the anogenital region that can progress to cancer. Cervical cancer is the third leading cause of cancer death in women w... |
2,337,654 | A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes. | We report the first case in Italy of a non-Ashkenazi double heterozygote for BRCA1 and BRCA2 genes. This finding is predictably rare, with a maximum frequency of 1/250,000. The proband and her mother were diagnosed with early-onset breast cancer. No other relatives with breast and/or ovarian cancer were observed. The i... |
2,337,655 | Cystic fibrosis lung disease: genetic influences, microbial interactions, and radiological assessment. | Cystic fibrosis (CF) is a multiorgan disease caused by mutation of the CF transmembrane conductance regulator (CFTR) gene. Obstructive lung disease is the predominant cause of morbidity and mortality; thus, most efforts to improve outcomes are directed toward slowing or halting lung-disease progression. Current therapi... |
2,337,656 | [Confidentiality, genetic counseling, and public health: a case study on sickle cell trait]. | Sickle cell anemia is the most prevalent genetic disease in Brazil. Screening for sickle cell trait in blood donation centers has been recommended by the Brazilian government since 1976. This screening mechanism is one of most common forms of genetic screening for sickle cell disease in the country. This article is bas... |
2,337,657 | Association of serotonin transporter gene polymorphism with obstructive sleep apnea syndrome. | Obstructive sleep apnea syndrome (OSAS) is a common condition characterized by repetitive pharyngeal collapse during sleep and daytime sleepiness. There is genetic predisposition to sleep disorders. Serotonin is involved in the regulation of sleep. The synaptic 5-hydroxytryptamine (HT) is inactivated by presynaptic reu... |
2,337,658 | What is new related to Helicobacter pylori infection in children and teenagers? | Helicobacter pylori infection is a common bacterial infection for humans, and the organism is the most prevalent gastric microbial pathogen. However, the major route of transmission remains poorly understood. The outcome of chronic H pylori infection varies from asymptomatic gastritis to peptic ulceration and gastric m... |
2,337,659 | Preimplantation genetic diagnosis: technological promise and ethical perils. | To describe the ethical issues inherent to the current and foreseeable uses of preimplantation genetic diagnosis (PGD).</AbstractText>Review of ethical principles and their application to PGD.</AbstractText>Academic medical center.</AbstractText><AbstractText Label="PATIENT(S)" NlmCategory="METHODS">None.</AbstractText... |
2,337,660 | Identification of genes needed for regeneration, stem cell function, and tissue homeostasis by systematic gene perturbation in planaria. | Planarians have been a classic model system for the study of regeneration, tissue homeostasis, and stem cell biology for over a century, but they have not historically been accessible to extensive genetic manipulation. Here we utilize RNA-mediated genetic interference (RNAi) to introduce large-scale gene inhibition stu... |
2,337,661 | Opening a new can of worms: a large-scale RNAi screen in planarians. | In this issue of Developmental Cell, Reddien et al. describe the first large-scale RNAi screen in freshwater planarians, classic models for regeneration studies. Their work paves the way for a detailed understanding of regeneration and tissue maintenance in these fascinating animals. |
2,337,662 | Isolation of genes from plant Y chromosomes. | Few plant species are dioecious and only a small fraction of these species are known to have sex chromosomes. Considerable efforts to isolate sex-linked genes from dioecious Silene latifolia (Caryophillaceae) have resulted in the isolation of surprisingly few sex-linked genes, suggesting that the methods used previousl... |
2,337,663 | Family studies in insomnia. | Several predisposing factors to insomnia have been hypothesized, including a familial component; however, few studies have focused on this topic. The aim of this study is to evaluate the prevalence of insomnia among first-degree relatives of chronic insomniacs and to compare the symptoms between sporadic and familial i... |
2,337,664 | Classification of human population based on HLA gene polymorphism and the concept of Prakriti in Ayurveda. | Correlating phenotypes with genotypes remains the major postgenomic challenge. Attempts to correlate phenotype characteristics associated with ethnicity, geographical divisions, or diseases to genotypes have had limited success. This means that current approaches for identifying phenotypes associated with haplotypes ma... |
2,337,665 | Complementary medicine and genetic medicine: polar disciplines or dynamic partners? | For more than a decade, a powerful movement promoting the integration of complementary and alternative medicine (CAM) and conventional medicine has evolved. Throughout the same period, there has been a monumental shift in the biologic sciences, and in perspectives on disease, resulting from advances in genetics. It is ... |
2,337,666 | Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis. | To highlight the diagnostic relevance of mitochondrial DNA (mtDNA) mutation analysis in acquired juvenile unilateral upper eyelid ptosis.</AbstractText>A 13-year-old boy presented with acquired, slowly progressive unilateral ptosis. We performed ophthalmological and neurological examinations, laboratory testing, skelet... |
2,337,667 | [The value of pharmacogenetic tests in antidepressive medication therapy]. | The pharmacokinetics and effect of antidepressants are influenced by genetic factors. Modern methods of genotyping allow fast and inexpensive identification of genetic variants and thus can be used in clinical diagnostics to improve the tolerance to drug therapy. Numerous studies have investigated the significance of g... |
2,337,668 | Testosterone and alcohol use among adolescent male twins: testing between-family associations in within-family comparisons. | We examined associations of testosterone (T) and alcohol use in adolescent twin brothers, conducting both between- and within-family analyses. The twins completed semi-structured interviews, provided two saliva samples to assay T, and reported their drinking patterns and pubertal development. We adjusted T levels for d... |
2,337,669 | Use of repeated measures to interpret genetic and environmental correlations in animal research. | A method for partitioning environmental correlations into two distinct sources of covariation--lifetime rearing effects and idiosyncratic stimulus events occurring during testing ("noise")--is presented. The method, which is based on structural equation modeling of repeated tests, is demonstrated using correlations obt... |
2,337,670 | Optimal conditions and specific characteristics of Vent exo- DNA polymerase in ligation-mediated polymerase chain reaction protocols. | An optimized procedure for the ligation-mediated polymerase chain reaction (PCR) technique using Thermococcus litoralis exo- DNA polymerase (Vent exo-) was developed. The optimal dosage of Vent exo- at the primer extension and PCR amplification steps as well as the optimal DNA quantity to use were established. We showe... |
2,337,671 | Sensitized RNAi screen of human kinases and phosphatases identifies new regulators of apoptosis and chemoresistance. | Evasion from apoptosis is a hallmark of cancer, and recent success using targeted therapeutics underscores the importance of identifying anti-apoptotic survival pathways. Here we utilize RNA interference (RNAi) to systematically screen the kinase and phosphatase component of the human genome. In addition to known kinas... |
2,337,672 | Pharmacogenetic testing for drug metabolizing enzymes: is it happening in practice? | It is widely claimed that pharmacogenetics may form the basis of 'personalized medicine'. We sought to determine the current utilization of pharmacogenetic testing for drug metabolizing enzymes (DMEs). The hypothesis was that these tests were rarely performed clinically. Questionnaires were sent to 629 individuals repr... |
2,337,673 | A mutation in the drug transporter gene ABCC2 associated with impaired methotrexate elimination. | Human multidrug resistance protein 2 (MRP2, encoded by ABCC2) is involved in active efflux of anionic drugs such as methotrexate. MRP2 is expressed on the luminal side of hepatocytes and renal proximal tubular cells, indicating an important role in drug elimination. We postulated that loss-of-function mutations in ABCC... |
2,337,674 | Genetic factors related to unconjugated hyperbilirubinemia amongst adults.<Pagination><StartPage>43</StartPage><EndPage>50</EndPage><MedlinePgn>43-50</MedlinePgn></Pagination><Abstract><AbstractText>Some variations in the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene are involved in the development of unconjugated hype... | Some variations in the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene are involved in the development of unconjugated hyperbilirubinemia. We hypothesize that other genetic factors may also be associated with this disease. A total of 227 adults with normal routine haematology and liver function (apart from bilirubin test... |
2,337,675 | [Multiple endocrine neoplasia syndromes. Type 2]. | The second type of multiple endocrine neoplasia syndromes can be described as rare syndromes, heritable in autosomal dominant manner and linking medullary thyroid carcinoma to different tumors of endocrine organ system and endocrinopathies. This syndrome is divided into multiple endocrine neoplasia syndrome type 2A (ME... |
2,337,676 | Evidence of an association between genetic variation of the coactivator PGC-1beta and obesity. | Peroxisome proliferator activated receptor-gamma coactivator-1beta (PGC-1beta) is a recently identified homologue of the tissue specific coactivator PGC-1alpha, a coactivator of transcription factors such as the peroxisome proliferators activated receptors and nuclear respiratory factors. PGC-1alpha is involved in adip... |
2,337,677 | Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases? | Genetic testing can determine those at risk for hereditary haemochromatosis (HH) caused by HFE mutations before the onset of symptoms. However, there is no optimum screening strategy, mainly owing to the variable penetrance in those who are homozygous for the HFE Cys282Tyr (C282Y) mutation. The objective of this study ... |
2,337,678 | Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. | A strong family history of breast and/or ovarian cancer can often be explained by small insertions, deletions, or substitutions in BRCA1 or BRCA2 and large genomic rearrangements in BRCA1. However, there is little evidence that genomic rearrangements are a major factor in BRCA2 associated breast cancer and the frequenc... |
2,337,679 | Is maternal duplication of 11p15 associated with Silver-Russell syndrome? | Silver-Russell syndrome (SRS) is a heterogeneous malformation syndrome characterised by intrauterine and postnatal growth retardation (IUGR, PGR) and dysmorphisms. The basic causes are unknown, however in approximately 10% of patients a maternal uniparental disomy (UPD) of chromosome 7 or chromosomal aberrations can be... |
2,337,680 | Nuchal translucency thickness in fetuses with chromosomal translocation at 11-12 weeks of gestation. | To investigate differences in nuchal translucency thickness among fetuses in which either parent is a balanced chromosome translocation carrier.</AbstractText>A prospective observational study was conducted with 98 pregnant women in the first trimester. Each had been advised to undergo chorionic villous sampling for fe... |
2,337,681 | Controversies and ethical issues in cancer-genetics clinics. | Genetic testing is a powerful technology that enables prediction of future health status. Testing for cancer-predisposition genes provides information for both the individual and his or her family. The use of this information reaches beyond the medical sphere to the psychological, social, legal, and ethical. The import... |
2,337,682 | Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations. | Prophylactic surgical removal of the ovaries has been offered for many years as a potential preventative of ovarian cancer in women deemed to be at increased hereditary risk for this disease. Now, it is possible to test for specific mutations of the BRCA1 and BRCA2 genes that render members of hereditary breast ovarian... |
2,337,683 | Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism. | Autosomal recessive mutations in the parkin gene are the predominant cause of familial, early-onset parkinsonism; missense mutations involving one or a few nucleotides, exonic deletions and duplications have been described. Here we report a family with two affected brothers. Direct sequencing of parkin did not detect m... |
2,337,684 | The APOC3 SstI polymorphism is weakly associated with sporadic Alzheimer's disease in a Chinese population. | In order to clarify the relationship of apolipoprotein CIII (APOC3) polymorphism and sporadic Alzheimer's disease (AD) in Chinese, 165 sporadic AD patients and 174 age-matched elderly individuals were genotyped for the APOC3 SstI and apolipoprotein E (APOE) HhaI polymorphisms. As the result, the APOC3 3017G allele was ... |
2,337,685 | Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. | The first autosomal dominant high-grade myopia locus has been mapped to chromosome 18p11.31 between markers D18S59 and D18S1138 by haplotype analysis. Refinement of the region by transmission disequilibrium testing suggests that a candidate gene (or genes) for this locus named myopia 2 (MYP2) is likely in an interval b... |
2,337,686 | Identification of predictive factors for the occurrence of predisposing MLH1 and MSH2 germline mutations among Sardinian patients with colorectal carcinoma. | Factors predictive of carrying MLH1 and MSH2 germline mutations in patients with colorectal cancer (CRC) are as yet unknown. The aim of this population-based study, was to further define the role of MLH1/MSH2 mutations through an evaluation clinic program with 362 consecutive Sardinian CRC patients. Eight MLH1/MSH2 ger... |
2,337,687 | Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation. | We have used mice with inborn errors of mitochondrial fatty acid beta-oxidation to test the concept of synergistic heterozygosity. We postulated that clinical disease can result from heterozygous mutations in more than one gene in single or related metabolic pathways. Mice with combinations of mutations in mitochondria... |
2,337,688 | Coeliac disease. | Coeliac disease (CD) probably affects one in 100 Australians, but is greatly underdiagnosed. Heightened media interest in the negative effects of dietary gluten has led many patients to request testing for CD or follow inappropriate diets. Doctors have had little education in CD because of its perceived rarity.</Abstra... |
2,337,689 | Innogenetics NV. | Innogenetics NV is a Belgium-based international biopharmaceutical company that has applied its know-how and synergies in molecular biology, immunology and virology to build two distinct businesses: a specialty diagnostics business grounded in personalized medicine, and a pharmaceutical business that is developing ther... |
2,337,690 | A point mutation in the iron-responsive element of the L-ferritin in a family with hereditary hyperferritinemia cataract syndrome. | Hereditary hyperferritinemia cataract syndrome is an autosomal dominant condition that is characterized by a high serum ferritin level and bilateral early-onset cataracts in the absence of iron overload. The genetic abnormality is identified as a mutation in the 5' regulatory region of the L-ferritin messenger RNA know... |
2,337,691 | TGFBR1*6A may contribute to hereditary colorectal cancer. | TGFBR16A is a tumor susceptibility gene that increases breast, colon, and ovarian cancer risk. Fourteen percent of the general population carries TGFBR16A, and TGFBR16A homozygotes have a greater than 100% increased colon cancer risk compared with noncarriers. Low-penetrance genes such as TGFBR16A may account for a siz... |
2,337,692 | The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. | A somatic mutation in the JH2 autoinhibitory domain of the Janus kinase 2 (JAK2) tyrosine kinase was recently described in polycythemia vera, essential thrombocythemia, and myelofibrosis with myeloid metaplasia. The prevalence of this mutation in either "atypical" myeloproliferative disorders (MPDs) or the myelodysplas... |
2,337,693 | Mutation screening and association study of the neprilysin gene in sporadic Alzheimer's disease in Chinese persons. | Neprilysin has been reported to be a major beta-amyloid peptide (Abeta)-degrading enzyme. The decreased expression and activity of it may contribute to the development of Alzheimer's disease by promoting the accumulation of Abeta. We used denaturing high-performance liquid chromatography to screen the neprilysin gene (... |
2,337,694 | The dopamine D4 receptor gene 48-base-pair-repeat polymorphism and mood disorders: a meta-analysis. | We conducted a meta-analysis to re-evaluate the role of the dopamine D4 receptor gene 48-base-pair- repeat (DRD4) polymorphism in mood disorders.</AbstractText>DRD4 allele frequencies were compared between 917 patients with unipolar (UP) or bipolar affective disorder (BP) and 1164 control subjects from 12 samples, usin... |
2,337,695 | Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. | To describe the clinical and genetic characteristics of six Japanese families with Bietti's crystalline corneoretinal dystrophy (BCD).</AbstractText>Case reports and results of DNA analysis.</AbstractText>Mutation screening was performed on six unrelated patients with BCD by direct sequencing. The clinical features wer... |
2,337,696 | Variants of calpain-10 gene and its association with type 2 diabetes mellitus in a Chinese population. | Variants of calpain-10 gene (CAPN 10) have recently been reported to be associated with type 2 diabetes (T2DM). Haplotype combination 112/121 defined by three single nucleotide polymorphisms (SNPs) (UCSNP-43, -19 and -63) of CAPN 10 conferred the highest risk for T2DM in Mexican-Americans. In this study, we aim to exam... |
2,337,697 | Comparative genomic analysis reveals a distant liver enhancer upstream of the COUP-TFII gene. | COUP-TFII is a central nuclear hormone receptor that tightly regulates the expression of numerous target lipid metabolism genes in vertebrates. However, it remains unclear how COUP-TFII itself is transcriptionally controlled since studies with its promoter and upstream region fail to recapitulate the gene's liver expre... |
2,337,698 | [Prospects for genetic hearing loss screening: 35delG mutation tracking in a newborn population]. | To investigate the prevalence of the 35delG mutation in a newborn population, with specific molecular testing, and to evaluate the prospects for genetic neonatal screening for hearing impairment.</AbstractText>233 newborn were evaluated at the Hospital de Base de São José do Rio Preto, SP, for molecular analy... |
2,337,699 | [Molecular-genetic aspects of congenital hypothyroidism]. | Congenital hypothyroidism manifests a complex of symptoms caused by a total lack or significant deficiency of thyroxine (T4) and triiodothyronine (T3) in foetal life and in the first years of child's life. The incidence of congenital hypothyroidism is 1 per 3000-4000 newborns in the world and l per 4800 in Poland. Ther... |
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