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2,337,400 | Balancing selection in the wild: testing population genetics theory of self-incompatibility in the rare species Brassica insularis. | Self-incompatibility (SI) systems are widespread mechanisms that prevent self-fertilization in angiosperms. They are generally encoded by one genome region containing several multiallelic genes, usually called the S-locus. They involve a recognition step between the pollen and the pistil component and pollen is rejecte... |
2,337,401 | Comparison between immunohistochemistry and chromogenic in situ hybridization in assessing HER-2 status in breast cancer. | Human epidermal growth factor receptor-2 (HER-2) is usually determined as a potential target for breast cancer therapy. The purpose of the present study was to compare chromogenic in situ hybridization (CISH) with immunohistochemistry (IHC) in determination of HER-2 status, in metastatic breast cancer patients screened... |
2,337,402 | Does genetic counseling have any impact on management of breast cancer risk? | Despite there being an increasing literature on the impact of cancer genetic counseling on risk perception and mental health, there is a lack of data describing impact on risk management. Genetic counseling and testing for cancer predisposition genes aims to improve the future health of those at high risk through appro... |
2,337,403 | Preconception cystic fibrosis carrier screening: costs and consequences. | The objective of the study was to determine net costs of four potential preconception cystic fibrosis (CF) carrier screening strategies, and to identify the most important cost-related parameters. An estimate was made of the costs of screening carried out during general practitioner (GP) consultations, and screening ca... |
2,337,404 | Gender differences in attitudes among those at risk for Huntington's disease. | This report presents and discusses selected findings regarding gender differences from an Australian-based study that investigated attitudes of individuals at risk for Huntington's disease (HD) towards genetic risk and predictive testing. Clear gender differences emerged regarding perceived coping capacity with regard ... |
2,337,405 | Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer. | Biallelic germline mutations in the base excision repair gene MYH have been shown to predispose to a proportion of multiple colorectal adenomas and cancer. To evaluate the contribution of MYH mutations to non- FAP, non-HNPCC familial colorectal cancer, 84 unrelated Swedish individuals affected with colorectal cancer fr... |
2,337,406 | Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families. | Hereditary nonpolyposis colorectal cancer (HNPCC) is due to defects in DNA mismatch repair (MMR) genes MSH2, MLH1, MSH6, and to a lesser extent PMS2. Of 466 suspected HNPCC families, we defined 54 index patients with either tumors of high microsatellite instability (MSI-H) and/or loss of expression for either MLH1, MSH... |
2,337,407 | Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening. | The aim of this work was to perform genetic analysis on 18 different blood-spot samples collected from neonates detected as hyperphenylalaninemic by Northeastern Italian screening program. DNA was extracted from blood-spots. Exons/introns of PAH gene were amplified by polymerase chain reaction (PCR), and PCR products w... |
2,337,408 | The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village. | GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration, and in its most severe infantile form, it leads to death before the age of 4. The GLB1 gene gives rise to two alternatively spliced mRNAs that encode the beta-galac... |
2,337,409 | The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses. | We studied 37 unrelated families with a history of 21-hydroxylase deficiency (CYP21D) for eight common mutations and gene deletions in the 21-hydroxylase (CYP21) gene. We found de novo mutations in the CYP21 gene in two CYP21D patients. Analysis for eight common mutations in the 21-hydroxylase gene as well as large gen... |
2,337,410 | Specific triplex binding capacity of mixed base sequence duplex nucleic acids used for single-nucleotide polymorphism detection. | Specific base recognition and binding between native double-stranded DNA (dsDNA) and complementary single-stranded DNA (ssDNA) of mixed base sequence is presented. Third-strand binding, facilitated and stabilized by a DNA intercalator, YOYO-1, occurs within 5 min at room temperature. This triplex binding capability has... |
2,337,411 | A typing system for the major histocompatibility complex class I chain related genes A and B using polymerase chain reaction with sequence-specific primers. | The Major Histocompatibility Complex (MHC) class I chain related (MIC) A and B genes are important additional loci within the MHC. We have developed a MICA and MICB typing system using the polymerase chain reaction with sequence-specific primers (PCR-SSP), which operates under the same conditions as our routine HLA-A, ... |
2,337,412 | Evolutionary combinatorial chemistry, a novel tool for SAR studies on peptide transport across the blood-brain barrier. Part 2. Design, synthesis and evaluation of a first generation of peptides. | The use of high-throughput methods in drug discovery allows the generation and testing of a large number of compounds, but at the price of providing redundant information. Evolutionary combinatorial chemistry combines the selection and synthesis of biologically active compounds with artificial intelligence optimization... |
2,337,413 | The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series. | To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations in Arab patients.</AbstractText>The study was performed in the pediatric FMF clinic of Jordan University Hospital over a period of 4 years. Patients were referred by their physicians for diagnosis, management, genetic... |
2,337,414 | CGH analysis of familial non-BRCA1/BRCA2 breast tumors and mutation screening of a candidate locus on chromosome 17q11.2-12. | Mutations in the known predisposing breast cancer genes BRCA1 and BRCA2 account for only a small proportion (<10%) of breast cancer families in the Stockholm region of Sweden. This study aims to identify novel predisposing genes in non-BRCA1/BRCA2 breast cancer families. We have employed comparative genomic hybridiz... |
2,337,415 | Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer. | Whereas a recent study reported an increased risk of colorectal cancer associated with any HFE germ line mutation (C282Y or H63D), other investigators have concluded there is no increased risk, or that any increase is dependent on polymorphisms in HFE-interacting genes such as the transferrin receptor (TFR). We have es... |
2,337,416 | Sex differences in the genetic basis of morning serum cortisol levels: genome-wide screen identifies two novel loci specific to women. | Relatively little is known about the influence of specific genes on cortisol levels, particularly morning cortisol levels.</AbstractText>The objective of this study was to identify quantitative trait loci associated with morning serum cortisol levels.</AbstractText>We carried out a genome screen for morning serum corti... |
2,337,417 | [From gene to disease; congenital adrenal hypoplasia and the DAX-1 gene]. | Congenital adrenal hypoplasia is an X-linked disorder resulting in adrenocortical deficiency, failure to complete puberty due to hypogonadotrophic hypogonadism, and infertility. The disease is caused by mutations in the DAX-1 gene. The DAX-1 protein is a transcription inhibitor; it represses the transcription of other,... |
2,337,418 | Stage 2 of the Wellcome Trust UK-Irish bipolar affective disorder sibling-pair genome screen: evidence for linkage on chromosomes 6q16-q21, 4q12-q21, 9p21, 10p14-p12 and 18q22. | Bipolar affective disorder (BPAD) is a common psychiatric disorder with complex genetic aetiology. We have undertaken a genome-wide scan in one of the largest samples of bipolar affected sibling pairs (ASPs) using a two-stage approach combining sample splitting and marker grid tightening. In this second stage analysis,... |
2,337,419 | Genetic tests of biologic systems in affective disorders. | To liberate candidate gene analyses from criticisms of inexhaustiveness of examination of specific candidate genes, or incompleteness in the choice of candidate genes to study for specific neurobiological pathways, study of sizeable sets of genes pertinent to each putative pathophysiological pathway is required. For ma... |
2,337,420 | Maximal metabolic rates during voluntary exercise, forced exercise, and cold exposure in house mice selectively bred for high wheel-running. | Selective breeding for high wheel-running activity has generated four lines of laboratory house mice (S lines) that run about 170% more than their control counterparts (C lines) on a daily basis, mostly because they run faster. We tested whether maximum aerobic metabolic rates (V(O2max)) have evolved in concert with wh... |
2,337,421 | Effects of chronic alcohol treatment on acoustic startle reactivity during withdrawal and subsequent alcohol intake in high and low alcohol drinking rats. | The purpose of the present study is to determine whether the inverse genetic association between alcohol withdrawal magnitude and genetic propensity for alcohol drinking that we have previously identified in alcohol-naive rats given alcohol acutely, would also be seen following chronic alcohol exposure. The effect of f... |
2,337,422 | Identification, characterization and forensic application of novel Y-STRs. | Y-chromosomal polymorphic STRs are a powerful tool for forensic and evolutionary studies. Within the last decade, a series of Y-STR systems have been developed and demonstrated to be suitable for a variety of forensic applications including sexual assault cases and paternity testing. This review describes our recent st... |
2,337,423 | Improvements to the throughput of recombinant protein expression in the baculovirus/insect cell system. | Recombinant baculoviruses have proved to be a very useful means to express many proteins over the last 20 years. Since their introduction, there have been a number of significant improvements that have simplified and speeded up the construction of baculoviruses. One of the most commonly used methods relies upon recombi... |
2,337,424 | Molecular and haematological characterization of compound Hb E/Hb Pyrgos and Hb E/Hb J-Bangkok in Thai patients. | We describe haematological and DNA characterization of haemoglobinopathies in Thai adolescents caused by compound heterozygosities for Hb E [beta26(B8) Glu-Lys] and two other beta-globin chain variants, Hb Pyrgos [beta83(EF7) Gly-Asp] and Hb J Bangkok [beta56(D7) Gly-Asp]. Hb analysis demonstrated that although these t... |
2,337,425 | Psychological impact of genetic testing for cancer susceptibility: an update of the literature. | This article presents an overview of the rapidly evolving body of literature on the psychological impact of genetic testing for hereditary breast/ovarian cancer susceptibility, hereditary non-polyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP). Uptake of genetic testing for BRCA1/2 and HNPCC-re... |
2,337,426 | Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. | Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme. A large number of mutations have been identified worldwide, providing insight into the pathogenesis of the disorder. We performed ophthalmic and dermatolog... |
2,337,427 | Genomic screening and replication using the same data set in family-based association testing. | The Human Genome Project and its spin-offs are making it increasingly feasible to determine the genetic basis of complex traits using genome-wide association studies. The statistical challenge of analyzing such studies stems from the severe multiple-comparison problem resulting from the analysis of thousands of SNPs. O... |
2,337,428 | Audiological features of GJB2 (connexin 26) deafness. | The aim of the present study was to characterize audiological profiles in patients with GJB2 deafness</AbstractText>We screened DNA from 399 individuals with nonsyndromic deafness for mutations in the connexin 26 gene (GJB2) by sequence analysis. A total of 77 (19%) of these deaf individuals were biallelic GJB2 mutatio... |
2,337,429 | Paternal history of asthma and airway responsiveness in children with asthma. | Little is known regarding the relationship between parental history of asthma and subsequent airway hyperresponsiveness (AHR) in children with asthma.</AbstractText>We evaluated this relationship in 1,041 children with asthma participating in a randomized trial of antiinflammatory medications (the Childhood Asthma Mana... |
2,337,430 | Identification of the omega4406 regulatory region, a developmental promoter of Myxococcus xanthus, and a DNA segment responsible for chromosomal position-dependent inhibition of gene expression. | When starved, Myxococcus xanthus cells send signals to each other that coordinate their movements, gene expression, and differentiation. C-signaling requires cell-cell contact, and increasing contact brought about by cell alignment in aggregates is thought to increase C-signaling, which induces expression of many genes... |
2,337,431 | Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. | Hereditary non-polyposis colorectal cancer (HNPCC) is caused by germline mutations of mismatch repair genes, usually in hMLH1 or hMSH2. All earlier studies on penetrance except one population based study were conducted in HNPCC families and did not correct for the way in which these families were ascertained.</Abstract... |
2,337,432 | Ticks and tick-borne disease in Guatemalan cattle and horses. | Blood samples and ticks were collected from 48 cattle and 74 horses from seven sites in the Peten region of Guatemala. Data on body condition, mucous membrane capillary refill time and tick infestation levels were recorded for each animal in the study. Horses had significantly higher levels of tick infestation than cat... |
2,337,433 | Spine biomechanics. | Current trends in spine research are reviewed in order to suggest future opportunities for biomechanics. Recent studies show that psychosocial factors influence back pain behaviour but are not important causes of pain itself. Severe back pain most often arises from intervertebral discs, apophyseal joints and sacroiliac... |
2,337,434 | Estimating the probability of identity in a random dog population using 15 highly polymorphic canine STR markers. | Dog DNA-profiling is becoming an important supplementary technology for the investigation of accident and crime, as dogs are intensely integrated in human social life. We investigated 15 highly polymorphic canine STR markers and two sex-related markers of 131 randomly selected dogs from the area around Innsbruck, Tyrol... |
2,337,435 | Identification of HLA-DQalpha and -DRbeta residues associated with susceptibility and protection to epithelial ovarian cancer. | Substantial evidence has been accumulated suggesting that T cells in patients with epithelial ovarian carcinoma (EOC) exhibit an antigen-driven immune response directed against the tumor cells. In the context of human leukocyte antigen (HLA), this suggests its possible involvement in the disease. Therefore, we examined... |
2,337,436 | Sequence-based typing of the HLA-A10/A19 group and confirmation of a pseudogene coamplified with A*3401. | The strategy for sequencing human leukocyte antigen (HLA)-A was based on separate amplification of exons 2 and 3, followed by forward and reverse heterozygous sequencing of the alleles. Validation of the method was obtained by sequencing 11 individuals carrying alleles from all different HLA-A allele groups, except *43... |
2,337,437 | Polymorphisms in signal transducer and activator of transcription 3 and lung function in asthma. | Identifying genetic determinants for lung function is important in providing insight into the pathophysiology of asthma. Signal transducer and activator of transcription 3 is a transcription factor latent in the cytoplasm; the gene (STAT3) is activated by a wide range of cytokines, and may play a role in lung developme... |
2,337,438 | Adoption of array technologies into the clinical laboratory. | Array-based methods are making substantial contributions to the discovery of disease biomarkers and are fueling the growth of multianalyte testing for disease diagnosis and treatment. The distillation of high-density array results into sets of signature markers promises to improve disease staging, risk stratification a... |
2,337,439 | A single-component CD40-targeted adenovirus vector displays highly efficient transduction and activation of dendritic cells in a human skin substrate system. | Dendritic cell (DC) based tumor vaccination usually involves the administration of ex vivo generated autologous DC. Transduction of DC by viral vectors in vivo has been proposed as a more standardized and easily clinically applicable approach. Previously, we have reported that an Ad5 vector targeted to CD40 via genetic... |
2,337,440 | Whole-genome screening for susceptibility genes in multicase families with Behçet's disease. | Behçet's disease is generally considered to be a multifactorial disease with important genetic and environmental components. A strong association between an HLA class I antigen, HLA-B51, and Behçet's disease has long been known. However, analysis of multicase families has suggested a substantial contribution ... |
2,337,441 | Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children. | The Williams-Beuren syndrome (WBS) region at 7q11.23 is subject to several genomic rearrangements, one of which, the WBSinv-1 variant, is an inversion polymorphism. The WBSinv-1 chromosome has been shown to occur frequently in parents of individuals with WBS, implying that it predisposes the region to the WBS deletion.... |
2,337,442 | Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. | Sanfilippo type B syndrome (mucopolysaccharidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder that is caused by defective alpha- N-acetylglucosaminidase (NAGLU). We performed NAGLU gene analysis in five patients with MPS IIIB whose respective parents from the Okinawa islands in Japan were ... |
2,337,443 | The molecular pathology of hereditary breast cancer: genetic testing and therapeutic implications. | Cancer arising in carriers of mutations in the BRCA1 and BRCA2 genes differs from sporadic breast cancer of age-matched controls and from non-BRCA1/2 familial breast carcinomas in its morphological, immunophenotypic and molecular characteristics. Most BRCA1 carcinomas have the basal cell phenotype, a subtype of high-gr... |
2,337,444 | Psychosocial aspects of risk communication and mutation testing in familial breast-ovarian cancer. | As cancer genetics services develop, psychosocial research evaluating risk communication and mutation testing for familial breast-ovarian cancer has expanded rapidly. It is timely to review findings in key areas. These will inform risk counselling practice and help prepare women making risk management decisions.</Abstr... |
2,337,445 | Genetic diversity and antibiotic resistance patterns in a campylobacter population isolated from poultry farms in Switzerland. | The diversity and genetic interrelation of Campylobacter jejuni and C. coli isolated from Swiss poultry were assessed by three independent typing methods. Samples were derived prior to slaughter from 100 randomly selected flocks (five birds per flock) raised on three different farm types. The observed flock prevalence ... |
2,337,446 | Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening. | To assess the impact of self-reported familiarity with published guidelines on knowledge, implementation, and opinions of obstetrician-gynecologists regarding carrier screening for cystic fibrosis.</AbstractText>A questionnaire pertaining to cystic fibrosis screening guidelines was mailed to 1,165 members of the Americ... |
2,337,447 | Sequence analysis of the MHC class II DPB1 gene in chimpanzees (Pan troglodytes). | The diversity of the MHC class II region in non-human primates is a focus of biomedical research because this region plays a crucial role in the recognition of antigens in the immune system. In particular, the chimpanzee [Pan troglodytes (Patr)], which belongs to the superfamily Hominoidea, has been used as a human mod... |
2,337,448 | Inherited corneal disease: the evolving molecular, genetic and imaging revolution. | Advances in molecular genetics and in vivo ocular imaging modalities have enhanced our understanding of the corneal dystrophies. To date at least 11 genes have been identified, in which mutations manifest in corneal disease. In addition there are at least eight other loci identified to which corneal dystrophies have be... |
2,337,449 | Human leucocyte antigen determinants of susceptibility to Barrett's oesophagus in Asians--a preliminary study. | Characteristic immune profiles have been demonstrated in gastro-oesophageal reflux disease. However, the genetic basis of gastro-oesophageal reflux disease remains unclear.</AbstractText>To investigate whether certain human leucocyte antigen genes are associated with Barrett's oesophagus.</AbstractText>Asian patients o... |
2,337,450 | Germline susceptibility to colorectal cancer due to base-excision repair gene defects. | DNA repair is a key process in the maintenance of genome integrity. Here, we present a large, systematically collected population-based association study (2,239 cases; 1,845 controls) that explores the contribution to colorectal cancer incidence of inherited defects in base-excision repair (BER) genes. We show that bia... |
2,337,451 | Novel management of oral cancer: a paradigm of predictive oncology. | The rationale for molecular-targeted prevention of oral cancer is strong. Oral cancer is a major global threat to public health with 300,000 new cases diagnosed worldwide on an annual basis. Notably, the great morbidity and mortality rates of this devastating disease have not improved in decades. Oral cancer developmen... |
2,337,452 | Genetics of prostate cancer. | Prostate cancer is the most frequently diagnosed visceral cancer of men, responsible for approximately 40,000 deaths in adult males per year. To identify the genetic causes of prostate cancer, we performed a whole genome scan of affected sib pairs, using DNA markers spaced evenly across the human genome. We demonstrate... |
2,337,453 | Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. | Primary early-onset generalized dystonia is an autosomal dominant disorder caused by a deletion (DeltaGAG) in the DYT1 gene encoding torsinA. The gene defect has incomplete penetrance, with approximately 30% of carriers developing clinically evident dystonia. We describe lines of transgenic mice that express either hum... |
2,337,454 | Bladder cancer outcome and subtype classification by gene expression. | Models of bladder tumor progression have suggested that genetic alterations may determine both phenotype and clinical course. We have applied expression microarray analysis to a divergent set of bladder tumors to further elucidate the course of disease progression and to classify tumors into more homogeneous and clinic... |
2,337,455 | Psychosocial risk associated with newborn screening for cystic fibrosis: parents' experience while awaiting the sweat-test appointment. | The psychosocial effects on parents of infants with abnormal results in cystic fibrosis (CF) newborn screening (NBS) that uses genetic testing remain unclear.</AbstractText>Twenty-eight individuals representing 14 families participated in grounded theory interviews approximately 6 months after their child's positive NB... |
2,337,456 | A GFP-based genetic screen reveals mutations that disrupt the architecture of the zebrafish retinotectal projection. | The retinotectal projection is a premier model system for the investigation of molecular mechanisms that underlie axon pathfinding and map formation. Other important features, such as the laminar targeting of retinal axons, the control of axon fasciculation and the intrinsic organization of the tectal neuropil, have be... |
2,337,457 | Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. | Hepatocyte nuclear factor-1 beta (HNF-1beta) is a widely distributed transcription factor which plays a critical role in embryonic development of the kidney, pancreas, liver, and Mullerian duct. Thirty HNF-1beta mutations have been reported in patients with renal cysts and other renal developmental disorders, young-ons... |
2,337,458 | Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome. | Although amyloidogenic transthyretin (ATTR) mutations are common in several populations, such as black Americans, the small number of diagnosed patients homozygous for TTR amyloid and the short follow up in most studies has until now prevented an analysis of their phenotype. In Sweden, nine homozygous patients from eig... |
2,337,459 | Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data. | Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE), and of its main mutation (C282Y), has radically altered the way to diagnose this disease. The aim of this study was to assess the impact of the HFE gene di... |
2,337,460 | AVID: an integrative framework for discovering functional relationships among proteins. | Determining the functions of uncharacterized proteins is one of the most pressing problems in the post-genomic era. Large scale protein-protein interaction assays, global mRNA expression analyses and systematic protein localization studies provide experimental information that can be used for this purpose. The data fro... |
2,337,461 | Genetic analyses in consecutive israeli jewish colorectal cancer patients. | Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal cancer (CRC) risk. Whereas the I1307K variant is almost exclusively encountered in (Ashkenazi) Jews, E1317Q is not restricted to certain ethnic populations. Data on its contribution to CRC risk in Jewish patients are sparse.</AbstractText>To ... |
2,337,462 | Characterization of complete HIV type 1 genomes from non-B subtype infections in U.S. military personnel. | Infections with non-B HIV-1 subtypes are rare in the United States, but comprise a significant percentage of infections among U.S. military personnel. Risk behavior while on overseas deployment correlates with non-B infection in this population. Extensive genetic characterization will be required to define HIV-1 divers... |
2,337,463 | Confronting the emergence of drug-resistant HIV type 1: impact of antiretroviral therapy on individual and population resistance. | Resistance to antiretroviral agents, and in particular the increasing levels of transmitted resistant virus could offset the substantial gains won with potent antiretroviral therapy. Primary and acquired antiretroviral resistance rates reflect the relative usage of different antiretroviral drugs in the population, as w... |
2,337,464 | Molecular pathology and clinical characteristics of oligodendroglial neoplasms. | To evaluate the role of molecular genetics in the routine clinic, we investigated allelic imbalance at 1p36, 19q13, 17p13, 10p12-15, and 10q22-26 and p53 mutation in 100 oligodendroglial neoplasms diagnosed at a single treatment center between 2000 and 2003. The -1p/-19q genotype, seen in 64, 34, 77, and 30% of OII, OA... |
2,337,465 | Effects of alginate encapsulation on mitochondrial activity. | The long-term objective of our research is to study the biochemical consequences of primary genetic defects of the Pyruvate Dehydrogenase Complex, a key mitochondrial enzyme complex, by NMR spectroscopy. An established method to obtain energetic and metabolic information from intact cells involves the use of 31P and 13... |
2,337,466 | Cancer as a risk factor for long-term cognitive deficits and dementia. | Previous studies have shown that cancer survivors frequently experience short-term cognitive deficits, but it is unknown how long these deficits last or whether they worsen over time. Using a co-twin control design, the cognitive function of 702 cancer survivors aged 65 years and older was compared with that of their c... |
2,337,467 | Cancer risks and mortality in heterozygous ATM mutation carriers. | Homozygous or compound heterozygous mutations in the ATM gene are the principal cause of ataxia telangiectasia (A-T). Several studies have suggested that heterozygous carriers of ATM mutations are at increased risk of breast cancer and perhaps of other cancers, but the precise risk is uncertain.</AbstractText>Cancer in... |
2,337,468 | Genomic analysis of Drosophila chromosome underreplication reveals a link between replication control and transcriptional territories. | In Drosophila polytene chromosomes, most late-replicating regions remain underreplicated. A loss-of-function mutant of the suppressor of underreplication [Su(UR)] gene suppresses underreplication (UR), whereas extra copies of this gene enhance the level and number of regions showing UR. By combining DNA microarray anal... |
2,337,469 | Emerging trends in genetic-based medical diagnostics. | Prior to the publication of the sequencing of the human genome in April 2003, approximately 1,000 genetic tests were available for monogenetic diseases, i.e., those diseases that emanate from a single gene. The Human Genome Project (HGP) offers the data needed to elucidate the more difficult polygenetic diseases and ge... |
2,337,470 | Analysis of SNP profiles in patients with major depressive disorder. | The present study focused on 91 single-nucleotide polymorphisms (SNPs) in 21 candidate genes to find associations with major depressive disorder (MDD). In total, 160 healthy controls and 177 patients with MDD were studied. We applied arrayed primer extension (APEX) based genotyping technology followed by association an... |
2,337,471 | Longitudinal assessment of PCBs and chlorinated pesticides in pregnant women from Western Canada. | Maternal exposures to organochlorines prior to pregnancy are considered a risk to neonatal welfare, specifically in relation to neurocognitive functions. There is growing interest in the evaluation of maternal blood testing as a marker for fetal exposure as well as the variable geographic distribution of these priority... |
2,337,472 | Experimental evidence for multivariate stabilizing sexual selection. | Stabilizing selection is a fundamental concept in evolutionary biology. In the presence of a single intermediate optimum phenotype (fitness peak) on the fitness surface, stabilizing selection should cause the population to evolve toward such a peak. This prediction has seldom been tested, particularly for suites of cor... |
2,337,473 | Parental attitudes and beliefs regarding the genetic testing of children. | To explore parental attitudes and beliefs about genetic testing of children for conditions that present throughout the life cycle.</AbstractText>Twelve semi-structured focus groups with black and white parents were conducted.</AbstractText>Across racial groups, most respondents want access to genetic testing and believ... |
2,337,474 | The educational needs and professional roles of Canadian physicians and nurses regarding genetic testing and adult onset hereditary disease. | To investigate the knowledge, professional involvement and confidence of Canadian nurses and physicians in providing genetic services for adult onset hereditary disease.</AbstractText>1,425 physicians and 1,425 nurses received a mailed questionnaire with reminders. The response rates were 50% (n = 543) and 79% (n = 975... |
2,337,475 | Economic evaluation of prenatal population screening for fragile X syndrome. | This paper models costs and benefits of a population screening programme for pregnant women to detect fragile X syndrome. Given the high lifetime costs of fragile X and the high sensitivity and specificity of testing, such a programme may seem attractive.</AbstractText>Economic evaluation.</AbstractText>Our base case r... |
2,337,476 | Coeliac disease: is it time for mass screening? | Screening studies indicate a prevalence of coeliac disease (CD) of up to 1% in populations of European ancestry, yet the majority of cases remain undiagnosed. Serological markers for CD now available have high sensitivity and specificity, offering the option of mass population screening. The principles of disease scree... |
2,337,477 | Time to reconsider subcutaneous mastectomy for breast-cancer prevention? | Genetic testing for women at increased risk of developing breast cancer has moved from the research setting to become part of established clinical practice. By testing for inherited mutations in BRCA1 and BRCA2, we are identifying more and more women who have an 80% or more lifetime risk of developing breast cancer. Si... |
2,337,478 | Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. | We present five families of paediatric patients suffering from choroid plexus carcinoma in which we found germline TP53 mutations. Only one of the families conformed to the criteria of Li-Fraumeni syndrome and only three (including the Li-Fraumeni syndrome family) met the Chompret criteria for germline TP53 mutation te... |
2,337,479 | Genetics of essential hypertension. | To inform healthcare providers of the genetics involved in the development of essential hypertension and to illustrate the role the healthcare provider has in the management of patients with essential hypertension.</AbstractText>Research-based articles in the medical literature, selected published literature in referee... |
2,337,480 | Ethical decision making in first trimester pregnancy screening. | Many couples enter pregnancy without an intricate understanding of the potential maternal and fetal/newborn complications. While it is reasonable for expectant couples to consider only the positive outcomes, it is the role of the healthcare professional to educate the parents on the options for fetal screening and test... |
2,337,481 | The unwitting sacrifice problem. | The diagnosis of bipolar disorder has been linked to giftedness of various sorts and this raises a special problem in that it is likely that the condition has a genetic basis. Therefore it seems possible that in the near future we will be able to detect and eliminate the gene predisposing to the disorder. This may mean... |
2,337,482 | Real-time PCR methods for monitoring antimalarial drug resistance. | Drug-resistant Plasmodium falciparum is a challenge to malaria control programs. Policy makers currently depend on in vivo (and, sometimes, in vitro) resistance testing to set treatment guidelines. Molecular markers such as mutations in dhfr, dhps, pfcrt and pfmdr1 represent potential surveillance tools. In this articl... |
2,337,483 | Development of comprehensive functional genomic screens to identify novel mediators of osteoarthritis. | The aim of this study was to develop high-throughput assays for the analysis of major chondrocyte functions that are important in osteoarthritis (OA) pathogenesis and methods for high-level gene expression and analysis in primary human chondrocytes.</AbstractText>In the first approach, complementary DNA (cDNA) librarie... |
2,337,484 | [Study on genetic diagnosis and prenatal diagnosis of alpha-thalassemia]. | To develop a single-tube multiplex polymerase chain reaction (mPCR) technique to detect three common deletional alpha-thalassemias (alpha-Thal) in Chinese, and to perform genetic diagnosis and prenatal diagnosis for an alpha-Thal family from Hebei province, China.</AbstractText>Fourty-two blood samples including sample... |
2,337,485 | Recurrent miscarriage. | Recurrent miscarriage, the occurrence of three consecutive first-trimester losses of pregnancy, affects 1% of women. The purported causes of recurrent miscarriage include chromosomal abnormalities, thrombophilia, metabolic disorders, anatomical causes and immune factors. At present, the only recommended investigations ... |
2,337,486 | Considerations when using the significance analysis of microarrays (SAM) algorithm. | Users of microarray technology typically strive to use universally acceptable data analysis strategies to determine significant expression changes in their experiments. One of the most frequently utilised methods for gene expression data analysis is SAM (significance analysis of microarrays). The impact of selection th... |
2,337,487 | A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia? | We screened 100 children with acute lymphoblastic leukemia (ALL) to assess the incidence of single amino acid change A91V in perforin. Heterozygous A91V was found in 12/100 patients and 5/127 controls (OR, 3.4; 95%CI: 1.15-9.95; p=0.014). A91V is a novel and frequent predisposing factor for childhood ALL. |
2,337,488 | Molecular genotyping of the Italian cohort of patients with hemophilia B. | The aim of the study, funded by the Italian Ministry of Health, was to identify the causative mutation in all known patients with hemophilia B in Italy.</AbstractText>Overall, 269 patients followed by 25 regional centers were considered in the study; after exclusion of the related individuals, 238 unrelated patients we... |
2,337,489 | Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene. | Two new delta-globin gene mutations have been detected: one leads to a fairly stable Hb A2 variant differing electrophoretically only minimally from normal Hb A2, and the second causes a delta(+)-thalassemia (thal) phenotype. |
2,337,490 | Rapid iterative negative geotaxis (RING): a new method for assessing age-related locomotor decline in Drosophila. | Age-related behavioral declines are common manifestations of aging in animals. Negative geotaxis, an innate escape response during which flies ascend the wall of a cylinder after being tapped to its bottom, is one of the behaviors that senesces in Drosophila. Many laboratories, including ours, have used a variety of ne... |
2,337,491 | [Pulmonary hypertension: pathophysiology, genetics and functional genomics]. | Novel discoveries of the genetic basis of pulmonary hypertension have recently inspired a whole new area of research in pulmonary medicine. The finding that germ-line mutations in the BMPR2 locus, encoding a transmembrane receptor of the TGF beta superfamily, are the cause for familial and partly idiopathic pulmonary a... |
2,337,492 | Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation. | Fanconi anemia (FA) is an autosomal recessive genetic disease characterized by progressive bone marrow failure, susceptibility to cancer and multiple congenital anomalies. There is important clinical variability among patients and the knowledge of factors which might predict outcome would greatly help the decision maki... |
2,337,493 | Phenotypic and molecular characterization of Mycobacterium tuberculosis isolates resistant to both isoniazid and ethambutol. | In performing radiometric susceptibility testing on over 2,000 patient isolates of Mycobacterium tuberculosis during the past 6 years, we found that resistance to 7.5 microg/ml ethambutol (EMB) occurred only in isolates that are also resistant to 0.4 microg/ml isoniazid (INH). Using 157 selected isolates in the present... |
2,337,494 | Are transporter genes other than the chloroquine resistance locus (pfcrt) and multidrug resistance gene (pfmdr) associated with antimalarial drug resistance? | Mu et al. (Mu, J., M. T. Ferdig, X. Feng, D. A. Joy, J. Duan, T. Furuya, G. Subramanian, L. Aravind, R. A. Cooper, J. C. Wootton, M. Xiong, and X. Z. Su, Mol. Microbiol. 49:977-989, 2003) recently reported exciting associations between nine new candidate transporter genes and in vitro resistance to chloroquine (CQ) and... |
2,337,495 | Human p53 knock-in (hupki) mice do not differ in liver tumor response from their counterparts with murine p53. | Mouse models are important tools in toxicologic research. Differences between species in pathways contributing to tumor development, however, raise the question in how far mouse models are valid for human risk assessment. One striking difference relates to the frequency of spontaneous liver cancer which is high in cert... |
2,337,496 | Three SNPs in the GSTO1, GSTO2 and PRSS11 genes on chromosome 10 are not associated with age-at-onset of Alzheimer's disease. | Linkage studies suggest the presence of putative risk and/or age-at-onset genes for Alzheimer's disease on Chromosome 10. Recently, a genomic converging approach using a combination of linkage, expression and association studies has reported significant associations of the glutathione S-transferase omega 1 and 2 (GSTO1... |
2,337,497 | Association of cyclin-dependent kinase 5 and neuronal activators p35 and p39 complex in early-onset Alzheimer's disease. | Malfunctioning of cyclin-dependent kinase 5 (CDK5) through aberrant proteolytic cleavage of its neuronal activators p35 and p39 is involved in neurodegeneration in Alzheimer's disease (AD) and other neurodegenerative brain diseases. By extensive genetic analysis of the genes encoding CDK5 (CDK5), p35 (CDK5R1) and p39 (... |
2,337,498 | Genetic susceptibility to simple febrile seizures: interleukin-1beta promoter polymorphisms are associated with sporadic cases. | Febrile seizures (FSs) are the commonest form of convulsions. A genetic predisposition to FSs is known, based on family studies, twin studies, and complex segregation analysis. Simple FSs may be more homogenous in their clinical manifestations, and show better agreement with the multifactorial inheritance theory than t... |
2,337,499 | Sample genetic policy language for research conducted with native communities. | [corrected] We have been repeatedly asked to clarify genetic issues that have cultural ramifications for Native communities.</AbstractText>In the following commentary, we explain selected genetic issues that may vary among tribal nations; nonetheless, scientists should allocate sufficient time to meet with the tribal l... |
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