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2,339,700 | Screening of the ARX gene in 682 retarded males. | The newly identified gene, ARX, when mutated has been shown to cause both syndromic and nonsyndromic forms of mental retardation. It seems that the less severe forms are due to polyalanine expansions and missense mutations in the gene. We screened 682 developmentally retarded males for polyalanine expansions in ARX in ... |
2,339,701 | Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. | The 3243A > G mutation is one of the most frequently observed mutations of mitochondrial DNA (mtDNA), and is associated with numerous clinical presentations including mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), progressive external ophthalmoplegia (PEO) and diabetes and ... |
2,339,702 | Hereditary breast and ovarian cancer: what the primary care physician should know. | In recent years, testing for cancer susceptibility genes has entered the clinical setting. The practicing physician needs to be familiar with this evolving area of medicine to be able to counsel and/or refer high-risk patients such as those with a strong personal or family history of cancer. The following is a review o... |
2,339,703 | Maternal activating mutation of the calcium-sensing receptor: implications for calcium metabolism in the neonate. | Two infants were studied born of a mother with autosomal dominant hypocalcemia who is heterozygous for an activating mutation in the calcium-sensing receptor gene. Both infants had serum calcium levels in the low-normal range and parathyroid hormone levels in the high-normal range and were healthy. The mother's hypocal... |
2,339,704 | Use of a real-time polymerase chain reaction-based fluorogenic 5' nuclease assay to evaluate insect vectors of Corynebacterium pseudotuberculosis infections in horses. | To develop and use a sensitive molecular assay for detecting the phospholipase D (PLD) exotoxin gene of Corynebacterium pseudotuberculosis in an attempt to identify insect vectors that may be important in transmission of clinical disease in horses.</AbstractText>2,621 flies of various species.</AbstractText>A real-time... |
2,339,705 | Simple method of zygosity identification in transgenic mice by real-time quantitative PCR. | To determine zygosity in transgenic (Tg) mice, a new technology, real-time quantitative PCR, has recently been introduced in transgenic research to overcome several drawbacks (time-consuming, specialized techniques and/or ambiguity in the results) of previously established methods, for example, Southern blot hybridizat... |
2,339,706 | Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis. | Inclusion body myositis (IBM) and myofibrillar myopathy (MM) are diseases characterized by the abnormal accumulation of proteins in muscle fibers, including desmin, alphaB-crystallin, gelsolin, actin, kinases, and phospho-tau, along with ubiquitin in muscle fibers, suggesting abnormal protein degradation as a possible ... |
2,339,707 | Health and ecological effects of adiponitrile. | Adiponitrile (ADN) has moderate acute toxicity with an oral LD50 in rats of 100 to 500 mg/kg and a 4-hr LC50 in rats of 1.71 mg/L (vapor plus aerosol). ADN produced slight eye but no skin irritation in rabbits. Repeated exposures by inhalation produced changes in the hematologic profile with effects seen at 100 or 300 ... |
2,339,708 | Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene. | The difficulty of fine localizing the polymorphisms responsible for genotype-phenotype correlations is emerging as an important constraint in the implementation and interpretation of genetic association studies, and calls for the definition of protocols for the follow-up of associated variants. One recent example is th... |
2,339,709 | Advances in preimplantation genetic diagnosis. | Strategies for preimplantation genetic diagnosis (PGD) have become increasingly complex. For single gene disorders it is now usual for several DNA fragments to be simultaneously amplified using multiplex-PCR. This allows redundant diagnostic loci to be analyzed, reducing the chance of misdiagnosis due to allele dropout... |
2,339,710 | Genetics of gametes and embryos. | Chromosome analysis of oocytes, sperm and embryos has mainly relied on fluorescent in situ hybridisation (FISH) and karyotyping. FISH studies have been performed on sperm from fertile and infertile men as well as men carrying known chromosomal translocations. Molecular DNA analyses has aided in the identification and t... |
2,339,711 | Langerhans cell histiocytosis in adults: more questions than answers? | Langerhans cell histiocytosis (LCH) may affect patients of any age but in adults the features of this disease are still poorly defined. Most reports are based on single-specialty experience and there are only a few describing relatively large series of patients. Although child and adult patients share several features ... |
2,339,712 | How (not) to protect genomic data privacy in a distributed network: using trail re-identification to evaluate and design anonymity protection systems. | The increasing integration of patient-specific genomic data into clinical practice and research raises serious privacy concerns. Various systems have been proposed that protect privacy by removing or encrypting explicitly identifying information, such as name or social security number, into pseudonyms. Though these sys... |
2,339,713 | Using genomics to help predict drug interactions. | This article proposes using genomic information to help tailor the output of a drug interaction program for a patient. This paper focuses on a particular CYP450 enzyme to illustrate adding genomic information to an existing drug interaction database. The data are formatted as an Extensible Markup Language (XML) documen... |
2,339,714 | The genetic family history assessment in gastroenterology nursing practice. | Genetic factors influence the risk for disease and the overall health of persons throughout their lifespan. The systematic collection of family history information in a three-generation format is the most important approach for the identification of individuals with a genetic susceptibility to most common diseases, and... |
2,339,715 | Identification of integrin beta subunit mutations that alter heterodimer function in situ. | We conducted a genetic screen for mutations in myospheroid, the gene encoding the Drosophila betaPS integrin subunit, and identified point mutants in all of the structural domains of the protein. Surprisingly, we find that mutations in very strongly conserved residues will often allow sufficient integrin function to su... |
2,339,716 | Measuring environmental factors can enhance the search for disease causing genes? | The value of the concurrent measurement of environmental factors in studies aimed at the discovery of disease causing genes has been questioned on the grounds that such an approach fails to increase study power. This report discusses the issue and shows with examples from the recent literature that the examination of a... |
2,339,717 | Persistence of low levels of simian immunodeficiency virus in macaques that were transiently viremic by conventional testing. | Transient SIV viremia after experimental SIV challenge has been documented. Whether SIV persists in these transiently viremic macaques remains unclear. In the present study, we applied a sensitive PCR and found persistent low levels of SIVmne infection (LLSI) (range: 0.1-5.3 SIV DNA copies/10(6) PBMC) in seven macaques... |
2,339,718 | No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk. | Recently we identified a new variant, S845G, in the MLH3 gene in 7 out of 327 patients suspected of hereditary nonpolyposis colorectal cancer but not fulfilling the Amsterdam criteria and in 1 out of 188 control subjects. As this variant might play a role in causing sporadic colorectal cancer, we analyzed its prevalenc... |
2,339,719 | [Polymorphism and multiplex amplification of 3 X-chromosome specific short tandem repeat loci]. | To devise a multiplex PCR system of three X-chromosome specific short tandem repeat (X-STR) loci and study the genetic polymorphism.</AbstractText>DXS6799, DXS6804 and DXS6854 were amplified simultaneously using a multiplex system and were typed by polyacrylamide gel electrophoresis and silver staining.</AbstractText>A... |
2,339,720 | [Carrier detection of Duchenne/Becker muscular dystrophy in Chinese families by microsatellite analysis]. | To screen and detect the female carriers from the DMD/BMD family members for prenatal or preimplantation genetic diagnosis.</AbstractText>For the detection of DMD/BMD carriers from 27 family members in 4 families, PCR to five microsatellite markers(located in 5' terminus and intron 44, 45, 49, 50) and analysis of the s... |
2,339,721 | A novel permutation testing method implicates sixteen nicotinic acetylcholine receptor genes as risk factors for smoking in schizophrenia families. | Smoking is a common correlate of schizophrenia, which leads to medical morbidity. Although twin and adoption studies have consistently implicated genes in the etiology of both smoking and schizophrenia, finding genes has been difficult. Several authors have suggested that clinical or neurobiological features associated... |
2,339,722 | Identification of autoantigens in psoriatic plaques using expression cloning. | To search for autoantigens in psoriatic plaques, we screened cDNA libraries of plaque epidermis with psoriatic serum samples. This approach has been highly successful in identifying tumor antigens, but has not been widely applied to autoimmune disease. We identified 11 autoantigens including three with prominent reacti... |
2,339,723 | The evolution to stool DNA testing for colorectal cancer. | Despite a variety of screening strategies and recent trends showing death rate stabilization, colorectal cancer still remains the second leading cause of overall cancer death. Current screening tools suffer from performance limitations, low patient acceptability, and marginal reliable access within the health care syst... |
2,339,724 | People who influence women's decisions and preferred sources of information about prenatal testing for birth defects. | More than half of Victorian pregnant women are undergoing prenatal testing for birth defects, although little is known about the factors that are influencing their decisions.</AbstractText>To examine whom women perceived as influencing their decision about prenatal testing for birth defects, with whom they would have l... |
2,339,725 | Preservation of C-peptide secretion in subjects at high risk of developing type 1 diabetes mellitus--a new surrogate measure of non-progression? | Individuals at high risk of developing type 1 diabetes mellitus can be identified using immunologic, genetic, and metabolic parameters. In the Diabetes Prevention Trial-1 (DPT-1), annual intravenous infusions of low doses of regular insulin, together with daily subcutaneous injection of a single low dose of Ultralente ... |
2,339,726 | Screening for the breast cancer gene (BRCA1) using a biochip system and molecular beacon probes immobilized on solid surfaces. | We describe the use of a biochip based on complementary metal oxide semiconductor (CMOS) technology for detection of specific genetic sequences using molecular beacons (MB) immobilized on solid surfaces as probes. The applicability of this miniature detection system for screening for the BRCA1 gene is evaluated using M... |
2,339,727 | Nonlinear matching measure for the analysis of on-off type DNA microarray images. | We propose a new nonlinear matching measure for automatic analysis of the on-off type DNA microarray images in which the hybridized spots are detected by a template-matching method. The proposed measure is obtained by binary thresholding over the entire template region and taking the number of white pixels inside the s... |
2,339,728 | DNA testing for type III von Willebrand disease in Dutch Kooiker dogs. | Von Willebrand disease type III is widespread in Dutch Kooiker dogs. To eradicate von Willebrand disease from the breed, affected dogs and nonsymptomatic carriers must be excluded from breeding. Previous efforts to detect carriers in Kooiker dogs by a von Willebrand factor antigen assay were not satisfactory because of... |
2,339,729 | Selection-subtraction approach (SSA): a universal genetic screening technique that enables negative selection. | Screening of expression libraries for bioactive clones that modulate the growth of mammalian cells has been limited largely to positive selections incapable of revealing growth suppressive or lethal genetic elements. We have developed a technique, selection-subtraction approach (SSA), that allows growth-modulating clon... |
2,339,730 | Europe plans gene testing framework. | Genetic testing is set to enter mainstream healthcare and further population research but needs new regulation according to a European report, writes Nigel Williams. |
2,339,731 | Preventing and managing antiretroviral drug resistance. | Development of resistance to antiretroviral drugs (ARVs) is a major impediment to optimum treatment of HIV-1 infection. Although resistance testing can help to select subsequent regimens when virologic failure occurs, cross-resistance, which affects all classes of ARVs, may make it more difficult to achieve optimum con... |
2,339,732 | Differences in the expressed HLA class I alleles effect the differential clustering of HIV type 1-specific T cell responses in infected Chinese and caucasians. | China is a region of the world with a rapidly spreading HIV-1 epidemic. Studies providing insights into HIV-1 pathogenesis in infected Chinese are urgently needed to support the design and testing of an effective HIV-1 vaccine for this population. HIV-1-specific T cell responses were characterized in 32 HIV-1-infected ... |
2,339,733 | Preimplantation genetic diagnosis: choosing the "good enough" child. | Preimplantation genetic diagnosis (PGD) raises serious moral questions concerning the parent-child relationship. Good parents accept their children unconditionally: they do not reject/attack them because they do not have the features they want. There is nothing wrong with treating a child as someone who can help promot... |
2,339,734 | A rare transthyretin mutation (Asp18Glu) associated with cardiomyopathy. | The identification of a rare transthyretin (TTR) gene mutation (Asp18Glu) in a middle-aged male with biopsy proven amyloid disease featuring cardiomyopathy is described. The more commonly occurring light chain amyloidosis (AL) was initially considered, but negative hematologic testing prompted screening for a pathologi... |
2,339,735 | Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. | It has been suggested based on familial data that Nijmegen breakage syndrome (NBS) heterozygotes have an increased risk of malignant tumors. We found 15 carriers of the 657del5 mutation and 8 carriers of the R215W molecular variant of the NBS1 gene among 1,289 consecutive patients from Central Poland with various cance... |
2,339,736 | A critical role for the chimpanzee model in the study of hepatitis C. | Chimpanzees remain the only recognized animal model for the study of hepatitis C virus (HCV). Studies performed in chimpanzees played a critical role in the discovery of HCV and are continuing to play an essential role in defining the natural history of this important human pathogen. In the absence of a reproducible ce... |
2,339,737 | Molecular mapping of deletion breakpoints on chromosome 4 of Drosophila melanogaster. | As part of our effort to induce and identify mutations in all genes on chromosome 4 of Drosophila melanogaster, we have mapped the breakpoints of eight chromosome 4 deficiencies relative to the predicted genes along this chromosome. Although the approximate locations of Df(4)G, Df(4)C3, Df(4)M101-62f, Df(4)M101-63a, Df... |
2,339,738 | Longitudinal changes in cognition and behavior in asymptomatic carriers of the APOE e4 allele. | To determine whether memory loss is detectable before the symptomatic presentation of mild cognitive impairment (MCI) in those at greater genetic risk for Alzheimer disease (AD) based upon presence or absence of the e4 allele of APOE.</AbstractText>Participants were age 50 years or older who responded to newspaper adve... |
2,339,739 | NFI-C2 negatively regulates alpha-sarcoglycan promoter activity in C2C12 myoblasts. | alpha-Sarcoglycan striated muscle-specific protein is a member of the sarcoglycan-sarcospan complex. Positive and negative transcriptional regulation of sarcoglycan genes are important in sarcoglycan's intracellular localization and sarcolemmal stability. In the present work we assessed the function of NFI transcriptio... |
2,339,740 | HSV-1 amplicon-mediated transfer of 128-kb BMP-2 genomic locus stimulates osteoblast differentiation in vitro. | In previous studies, we developed mouse genetic models and discovered genetic components of quantitative trait loci on mouse chromosomes that contribute to phenotypes such as bone size, bone density, and fracture healing. However, these regions contain dozens of genes in several overlapping bacterial artificial chromos... |
2,339,741 | Accuracy and completeness in reporting family history of prostate cancer by unaffected men. | To determine the accuracy of prostate cancer reports and completeness of the family history provided by unaffected men with a family history of prostate cancer. A positive family history is associated with increased prostate cancer risk and could influence surveillance recommendations and patient selection for genetic ... |
2,339,742 | Accurate mapping of mutations of pyrazinamide-resistant Mycobacterium tuberculosis strains with a scanning-frame oligonucleotide microarray. | The increasing emergence of drug-resistant Mycobacterium tuberculosis poses significant threat to the treatment of tuberculosis. Conventional susceptibility testing for the front-line tuberculosis drug pyrazinamide (PZA) is difficult, because of the requirement for acid pH for the drug to show activity. Resistance to P... |
2,339,743 | Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions. | To report the utility of genetic testing in the diagnosis and management of patients with suspected corneal dystrophies.</AbstractText>Case report.</AbstractText>A 58-year-old man with a history of recurrent corneal erosions was diagnosed with bilateral anterior basement membrane dystrophy and unilateral lattice cornea... |
2,339,744 | Complex phenotypic assays in high-throughput screening. | High-throughput screening (HTS), systematically testing thousands of small molecules to find candidates for lead optimization, primarily involves exposure of purified proteins to arrayed collections of small molecules. More complex phenotypic assays, such as cell-based or whole-organism assays, traditionally have flank... |
2,339,745 | Expression of rabbit IL-4 by recombinant myxoma viruses enhances virulence and overcomes genetic resistance to myxomatosis. | Rabbit IL-4 was expressed in the virulent standard laboratory strain (SLS) and the attenuated Uriarra (Ur) strain of myxoma virus with the aim of creating a Th2 cytokine environment and inhibiting the development of an antiviral cell-mediated response to myxomatosis in infected rabbits. This allowed testing of a model ... |
2,339,746 | Allele frequencies of two polymorphisms associated with the factor IX gene in Iranian population. | Indirect genetic diagnosis using polymorphic DNA markers can be useful in large-scale screening programs, which is technically simpler, more rapid and amenable. The main objective of this study was to test the informativeness of two common intragenic markers (TaqI and XmnI) in Iranian haemophilia B families to detect t... |
2,339,747 | Multiplex PCR-single-base extension genotyping of multiple glutathione S-transferase polymorphisms. | Identification of genetic polymorphisms has recently gained increased interest, since they can be used as markers to identify the genes that predispose to disease. This emerging role of genetic polymorphism in clinical association has created the need for high-throughput genotyping methodologies. The present study desc... |
2,339,748 | Fine mapping of a murine growth locus to a 1.4-cM region and resolution of linked QTL. | Previous work identified a QTL affecting murine size (particularly tail length) in a cross between C57BL/6J and DBA/2J mice and refined its location to an 8-cM region between D1Mit30 and D1Mit57. The present study used recombinant progeny testing to fine map this QTL. Individuals from a partially congenic strain carryi... |
2,339,749 | Genetic complexity of an obesity QTL ( Fob3) revealed by detailed genetic mapping. | Obesity is proving to be a serious health concern in the developed world as well as an unwanted component of growth in livestock production. While recent advances in genetics have identified a number of monogenic causes of obesity, these are responsible for only a small proportion of human cases of obesity. By divergen... |
2,339,750 | Cancer vaccine development: protein transfer of membrane-anchored cytokines and immunostimulatory molecules. | Many tumor cells escape host-immune recognition by the downregulation or lack of immunostimulatory molecules. Expression of immunostimulatory molecules on tumor cells by gene transfer can be used to induce an antitumor immune response. However, we have previously shown that protein transfer of glycosyl-phosphatidylinos... |
2,339,751 | Constitutive expression of EIL-like transcription factor partially restores ripening in the ethylene-insensitive Nr tomato mutant. | Climacteric fruit ripening is regulated by the phytohormone ethylene. ETHYLENE-INSENSITIVE3 (EIN3) is a transcription factor that functions downstream from the ethylene receptors in the Arabidopsis ethylene signal transduction pathway. Three homologues of the Arabidopsis EIN3 gene have been identified in tomato, Lycope... |
2,339,752 | Transcriptional profiling of dysplastic lesions in K14-HPV16 transgenic mice using laser microdissection. | In the K14-HPV16 transgenic mouse model of human papillomavirus (HPV)-associated squamous cell cancers, HPV16 E6 and E7 oncogenes and E1 and E2 regulatory genes are driven by the K14 keratinocyte-specific promoter. HPV transcription varies within the different layers of the epithelium. The correlation between HPV trans... |
2,339,753 | Progression of multiple sclerosis is associated with exon 1 CTLA-4 gene polymorphism. | Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system which is widely believed to have a T-cell-mediated etiology. The cytotoxic T-lymphocyte antigen-4 (CTLA-4) antigen molecule plays a key role in the downregulation of T-cell responses. To examine the genetic association of the CTLA-... |
2,339,754 | Single-molecule spectroscopy for nucleic acid analysis: a new approach for disease detection and genomic analysis. | Recently developed single-molecule spectroscopy (SMS) permits the analysis of fluorescent mixtures one molecule at a time. SMS methods provide the means to make rapid measurements on small, complex samples without the need for separations and target amplification enabling a new class of ultrasensitive nucleic acid assa... |
2,339,755 | Mouse models for Usher syndrome 1B. | Photoreceptor cell degeneration was not detected in any of the shaker1 alleles, except for a small but significant loss of photoreceptor cells found in Myo7a(4626SB/4626SB) mice that were also homozygous mutant for Cdh23v. Perhaps greater and/or faster photoreceptor cell loss that is dependent on mutant Myo7a can be ef... |
2,339,756 | Medullary thyroid carcinoma. Genetic screening and prophylactic thyroidectomies. | Medullary thyroid cancer is a rare, neuroendocrine, tumor. It arises from parafollicular or C-cells with the ability to produce and secrete different bioactive substances like calcitonin (TC) and CEA (1-5) TC is ideal tumor marker in early diagnosis, in patents' follow up and in evaluation of their treatment. TC determ... |
2,339,757 | Deafness due to A1555G mitochondrial mutation without use of aminoglycoside. | <AbstractText Label="OBJECTIVES/HYPOTHESIS" NlmCategory="OBJECTIVE">The objective was to clarify the characteristics of deafness associated with the A1555G mutation within mitochondrial 12S ribosomal RNA gene in the absence of aminoglycoside exposure.</AbstractText>Clinical and genetic studies in family members with th... |
2,339,758 | Genetic amniocentesis complications: is the incidence overrated? | To estimate the complication rate of 2nd-trimester amniocentesis and to determine the associated risk factors.</AbstractText>A retrospective chart review of genetic amniocenteses performed at a single tertiary care institution, from 1996 to 1998, was done. The variables studied included gestational age, indication for ... |
2,339,759 | Coexistence of tuberous sclerosis and Friedreich ataxia. | Tuberous sclerosis (TS) is caused by point mutations in the TSC1 or TSC2 genes on chromosomes 9q33-34 or 16p13, respectively. Clinical manifestations can be quite variable but are primarily limited to cutaneous, neurologic, and cardiovascular abnormalities. Phenotypes range from neurologically devastated to those with ... |
2,339,760 | A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. | The human Y chromosome is replete with amplicons-very large, nearly identical repeats-which render it susceptible to interstitial deletions that often cause spermatogenic failure. Here we describe a recurrent, 1.8-Mb deletion that removes half of the azoospermia factor c (AZFc) region, including 12 members of eight tes... |
2,339,761 | Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function. | Over 520 different amino acid substitution variants have been previously identified in the systematic screening of 91 human DNA repair genes for sequence variation. Two algorithms were employed to predict the impact of these amino acid substitutions on protein activity. Sorting Intolerant from Tolerant (SIFT) classifie... |
2,339,762 | The neurofibromatoses: hereditary predisposition to multiple peripheral nerve tumors. | Neurosurgeons must be aware of the neuro-fibromatoses because they frequently present with nervous system tumors. Such patients develop numerous peripheral nerve sheath tumors; fortunately, only a few of these tumors are symptomatic or malignant. The tumor burden in individual patients can be remarkable, however, produ... |
2,339,763 | Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. | Three novel missense mutations of SQSTM1 were identified in familial PDB, all affecting the UBA domain. Functional and structural analysis showed that disease severity was related to the type of mutation but was unrelated to the polyubiquitin-binding properties of the mutant UBA domain peptides.</AbstractText>Mutations... |
2,339,764 | Clinical biochemical genetics in the twenty-first century. | Genetic disorders are recognized to play an increasing role in pediatrics. Close to 10% of diseases among hospitalized children have been ascribed to Mendelian traits inherited as single gene defects, not a surprising figure considering that approximately 1000 inborn errors of metabolism (IEM) have been identified to d... |
2,339,765 | A molecular description of brain trauma pathophysiology using microarray technology: an overview. | It has been estimated that 50% of human transcriptome, the collection of mRNA in a cell, is expressed in the brain, making it one of the most complex organs to understand in terms of genomic responses to injury. The availability of genome sequences for several organisms coupled with the increasing affordability of micr... |
2,339,766 | Implantation of tumoral XC cells induces chronic, endothelin-dependent, thermal hyperalgesia in mice. | 1. We describe here the alterations in the nociceptive sensitivity of Swiss CD1 mice receiving an intraplantar (i.pl.) administration of XC Rous sarcoma-virus-transformed rat fibroblasts (XC cells). 2. Histological studies reveal that XC cells remain at the injection site 2-3 weeks after implantation, a time at which a... |
2,339,767 | Renal transplantation in amyloidosis: effects of HLA matching and donor type on recurrence of primary disease. | The aim of this study is to evaluate the effect of HLA-matching and donor type on recurrence of amyloidosis after renal transplantation. The study includes 30 patients with systemic amyloidosis who received kidney transplants between 1985 and 2001. Donor source and HLA tissue typing of the donor and recipient were eval... |
2,339,768 | Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5. | Genomic imprinting is an epigenetic chromosomal modification in the gametes or zygotes that results in a non-random monoallelic expression of specific autosomal genes depending upon their parent of origin. Approximately 44 human genes have been reported to be imprinted. A majority of them are clustered, including some ... |
2,339,769 | Meta-analysis of genome-wide studies of psoriasis susceptibility reveals linkage to chromosomes 6p21 and 4q28-q31 in Caucasian and Chinese Hans population. | Ten genome-wide scans have been conducted over the past few years in the search for psoriasis susceptibility genes, but only one potential susceptibility region has been consistently replicated. A meta-analysis using the genome-search meta-analysis method was undertaken combining the results of six of these psoriasis g... |
2,339,770 | Novel targeted agents in the treatment of lung cancer. | Lung cancer is the leading cause of cancer-related mortality in the US. Although an improvement in outcome is possible with the continued advancement of cytotoxic-based treatment, clinical research is currently focused on utilising novel molecular targets with proven efficacy in preclinical models and a low toxicity pr... |
2,339,771 | HIV pharmacogenomics: closer to personalized therapy? | Pharmacogenomics classically focuses on host nuclear genetic polymorphisms that can be used to predict adverse drug reactions (ADRs). Because ADRs are defined as any noxious, unintended, and undesired drug effects, loss of efficacy due to the development of antiretroviral drug resistance and both acute and cumulative a... |
2,339,772 | Screening of coeliac disease in north Italian children with type 1 diabetes: limited usefulness of HLA-DQ typing. | To determine the contribution of HLA-DQA1* and HLA-DQB1* genes to the risk of coeliac disease (CD) in a cohort of children with type 1 diabetes mellitus (T1DM) from northern Italy.</AbstractText>Three hundred and fifty-seven children with T1DM, attending the Childhood Diabetes Unit of the University of Verona, have bee... |
2,339,773 | Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis. | A large body of research supports a multifactorial cause in multiple sclerosis (MS), with an underlying genetic susceptibility likely acting in concert with undefined environmental exposures. Here, we used a highly efficient multilocus genotyping assay to study single nucleotide polymorphisms representing variation in ... |
2,339,774 | Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. | Newborn screening for cystic fibrosis (CF) provides a model to investigate the implications of applying multiple-mutation DNA testing in screening for any disorder in a pediatric population-based setting, where detection of affected infants is desired and identification of unaffected carriers is not. Widely applied 2-t... |
2,339,775 | A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. | To develop a simple scoring system for the likelihood of identifying a BRCA1 or BRCA2 mutation.</AbstractText>DNA samples from affected subjects from 422 non-Jewish families with a history of breast and/or ovarian cancer were screened for BRCA1 mutations and a subset of 318 was screened for BRCA2 by whole gene screenin... |
2,339,776 | Changes in the utilization of prenatal diagnosis. | The impact of prenatal screening for Down syndrome has largely been assessed under the assumption that screening protocols and policies are fully used. To measure the overall effectiveness in actual clinical practice, we analyzed the tests performed by a single cytogenetics laboratory.</AbstractText>We reviewed all amn... |
2,339,777 | Society and ethics - the genetics of disease. | Established guidance for the protection of human subjects in research has provided the framework for research and clinical practice in genetics. Three key principles to emerge are the requirements for consent, privacy and confidentiality. However, recent research on genetic susceptibility to common diseases indicates t... |
2,339,778 | Increased rates of spontaneous sister chromatid exchange in lymphocytes of BRCA2+/- carriers of familial breast cancer clusters. | Heterozygous carriers of germ-line mutations of the BRCA2 breast cancer susceptibility gene are predisposed to breast, ovarian, pancreatic and other cancers. The BRCA2 protein is implicated in the maintenance of chromosome stability through its essential function in double-strand DNA repair and recombination. Our previ... |
2,339,779 | Lack of evidence for association between serotonin transporter gene (5-HTTLPR) and obsessive-compulsive disorder by case control and family association study in humans. | Association studies of the serotonin transporter (SLC6A4) gene in obsessive-compulsive disorder (OCD) have generated discrepant results. Here, we genotyped the 5-HTTLPR polymorphism in 106 French OCD patients and 171 healthy controls (case control study). We also performed a family association study on 116 trios includ... |
2,339,780 | Exclusion of CYP46 and APOM as candidate genes for Alzheimer's disease in a French population. | Alzheimer's disease (AD) is a complex, multifactorial disorder, probably resulting from an interaction between environmental and genetic factors. Increasing evidence points to a link between cholesterol turnover and AD, suggesting that genes implicated in brain cholesterol homeostasis may be potential candidate genes f... |
2,339,781 | Lack of association of interleukin-1beta polymorphism with Alzheimer's disease in the Jewish population. | A growing body of evidence suggests that Alzheimer's disease (AD) is associated with local inflammation processes, including the activation of inflammatory cytokines. We performed a case-control association study between sporadic AD patients and the exon 5 position +3953 polymorphism in the potent pro-inflammatory cyto... |
2,339,782 | No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found. | Given the remarkable similarities between the genetics of tau diseases and the genetics of alpha-synuclein diseases, and given the fact that we have recently found a triplication of the alpha-synuclein locus in a family in which we had shown linkage to the alpha-synuclein locus, we determined to test whether some of th... |
2,339,783 | Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. | Newborn screening by tandem mass spectrometry (MS/MS) identifies patients with medium chain acyl-CoA dehydrogenase (MCAD) deficiency the most frequently observed disorder of fatty acid oxidation. Molecular genetic analysis is becoming a common tool to confirm those identified as affected by prospective screening and fo... |
2,339,784 | Development and implementation of a database system to manage a large-scale mouse ENU-mutagenesis program. | A mouse ENU-mutagenesis program at RIKEN GSC has been initiated to conduct a large-scale, genome-wide, early- and late-onset phenotypic screen of mutant mice. We screened about a hundred mice every week with a comprehensive set of phenotype assays including behavioral tests based on a modified SHIRPA protocol, blood te... |
2,339,785 | Cognitive impairment associated with chemotherapy for cancer: report of a workshop. | Cognitive dysfunction may occur in some patients who receive chemotherapy. We provide a summary of an April 2003 workshop on this topic, that included medical oncologists, radiologists, clinical and experimental psychologists, and patient advocates. Current studies indicate that cognitive deficits are often subtle, alt... |
2,339,786 | 3-T proton MRS investigation of glutamate and glutamine in adolescents at high genetic risk for schizophrenia. | Glutamate and glutamine were examined in vivo in nonpsychotic adolescents at high genetic risk for schizophrenia by using 3-T proton magnetic resonance spectroscopy ((1)H-MRS).</AbstractText>Spectra from the right medial frontal lobe of 20 adolescents who had a parent with schizophrenia (high-risk group; mean age=16.4 ... |
2,339,787 | SEREX identification of the autoantibodies that are prevalent in the cerebrospinal fluid of patients with moyamoya disease. | We performed SEREX (serological analysis of recombinant cDNA expression library) to identify autoantibodies that are prevalent in the cerebrospinal fluid of patients with moyamoya disease. These autoantibodies include PC326 (of unknown function), SRY (sex determining region Y), and peroxisomal D3,D2-enoyl-CoA isomerase... |
2,339,788 | Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families. | We sequenced approximately 23 kb genomic regions containing all the coding exons and their franking introns of two breast cancer susceptibility genes, BRCA1 and BRCA2, of 55 individuals from 50 unrelated Japanese breast cancer families. We identified 55 single-nucleotide polymorphisms (SNPs) (21 in BRCA1 and 34 in BRCA... |
2,339,789 | The effect of CYP3A5 and MDR1 (ABCB1) polymorphisms on cyclosporine and tacrolimus dose requirements and trough blood levels in stable renal transplant patients. | Cyclosporine and tacrolimus are immunosuppressive drugs largely used in renal transplantation. They are characterized by a wide inter-individual variability in their pharmacokinetics with a potential impact on their therapeutic efficacy or induced toxicity. CYP3A5 and P-glycoprotein appear as important determinants of ... |
2,339,790 | Serotonin transporter promoter gene polymorphism and long-term outcome of antidepressant treatment. | This study investigates the relationship between the serotonin transporter linked polymorphic region (5-HTTLPR) and the long-term outcome of antidepressant treatment.</AbstractText>One hundred and twenty-eight patients with major depressive disorder were evaluated for long-term outcome (up to 3 years) of antidepressant... |
2,339,791 | High occurrence of simultaneous mutations in target enzymes and MtrRCDE efflux system in quinolone-resistant Neisseria gonorrhoeae. | Emergence of multidrug-resistant Neisseria gonorrhoeae resulting from new genetic mutations is a serious threat to controlling gonorrhea.</AbstractText>To determine 1) antimicrobial susceptibilities and the corresponding genetic mutations and 2) the role of MtrRCDE efflux system in gonococcal resistance to fluoroquinol... |
2,339,792 | Utility of hematological and iron-related screening in elite athletes. | To determine the clinical and performance related utility of hematological and iron-related screening in elite athletes.</AbstractText>Prospective cohort study.</AbstractText>The Department of Sports Medicine at the Australian Institute of Sport.</AbstractText>Male and female elite athletes undergoing routine medical s... |
2,339,793 | Muir-Torre syndrome: role of the dermatopathologist in diagnosis. | Muir-Torre syndrome (MTS) is an autosomal dominantly inherited disorder characterized by sebaceous lesions and visceral malignancies. The defect is thought to be the result of a mutation in mismatch repair genes and associated with microsatellite instability. Two cases whose diagnoses were suggested first by the dermat... |
2,339,794 | Statistical framework for phylogenomic analysis of gene family expression profiles. | Microarray technology has produced massive expression data that are invaluable for investigating the genome-wide evolutionary pattern of gene expression. To this end, phylogenetic expression analysis is highly desirable. On the basis of the Brownian process, we developed a statistical framework (called the E(0) model),... |
2,339,795 | A large-scale screen for mutagen-sensitive loci in Drosophila. | In a screen for new DNA repair mutants, we tested 6275 Drosophila strains bearing homozygous mutagenized autosomes (obtained from C. Zuker) for hypersensitivity to methyl methanesulfonate (MMS) and nitrogen mustard (HN2). Testing of 2585 second-chromosome lines resulted in the recovery of 18 mutants, 8 of which were al... |
2,339,796 | Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism. | We review the different strategies currently used to try to identify susceptibility genes for idiopathic autism. Although identification of genes is usually straightforward in Mendelian disorders, it has proved to be much more difficult to establish in polygenic disorders like autism. Neither genome screens of affected... |
2,339,797 | Phenotypic expression of a family with multiple endocrine neoplasia type 2A due to a RET mutation at codon 618. | Multiple endocrine neoplasia type 2A (MEN2A) is caused by missense mutations in the RET proto-oncogene on chromosome 10. This paper reports the phenotypic expression of a family with MEN2A, in which serine substitutes for cysteine at codon 618 in exon 10 of the RET gene. It was first claimed that medullary thyroid canc... |
2,339,798 | A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti. | Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is usually lethal in males in the prenatal period. Largely 80% of cases are accounted for by a large-scale deletion encompassing exons 4 to 10 of the NEMO gene. The aim of this work was to facilitate prenatal diagnosis of IP by devising a novel... |
2,339,799 | Genetic approach to prenatal diagnosis in urea cycle defects. | To demonstrate the feasibility of prenatal diagnosis by molecular genetics in all urea cycle defects in order to improve and standardize the current approaches.</AbstractText>Deceased index patients who had suffered from a urea cycle disorder were investigated for mutations of the biochemically most likely affected gen... |
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