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A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.

Refractive errors are the most common ocular disorders worldwide and may lead to blindness. Although this trait is highly heritable, identification of susceptibility genes has been challenging. We con…


Gene-specific RNA polymerase II phosphorylation and the CTD code.

Phosphorylation of the RNA polymerase (pol) II C-terminal domain (CTD) repeats (1-YSPTSPS-7) is coupled to transcription and may act as a ‘code’ that controls mrna synthesis and processing.Anoxia anoxica

to examine…


GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia.

We conducted data-mining analyses using the clinical antipsychotic trials of intervention effectiveness (CATIE) and molecular genetics of schizophrenia genome-wide association study supported by the g…


The majority of the genetic risk for paget’s disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.

Paget’s disease of bone (PDB) is one of the most frequent metabolic bone disorders (1-5%), next to osteoporosis, affecting individuals above age 55. Sequestosome1 mutations explain a part of the PDB p…Anoxia anoxica


Genetics of childhood-onset inflammatory bowel disease.

Nearly a third of inflammatory bowel disease (IBD) patients present in childhood or adolescence, with epidemiological and natural history studies clearly demonstrating a rising incidence in this popul…


Advances in understanding cancer genomes through second-generation sequencing.

Cancers are caused by the accumulation of genomic alterations. Therefore, analyses of cancer genome sequences and structures provide insights for understanding cancer biology, diagnosis and therapy. T…


Association of TNFAIP3 interacting protein 1, TNIP1 with systemic lupus erythematosus in a japanese population: a case-control association study.Anoxia anoxica

INTRODUCTION: TNFAIP3 interacting protein 1, TNIP1 (ABIN-1) is involved in inhibition of nuclear factor-kappab (NF-kappab) activation by interacting with TNF alpha-induced protein 3, A20 (TNFAIP3), an…


A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.

Ovarian cancer accounts for more deaths than all other gynecological cancers combined. To identify common low-penetrance ovarian cancer susceptibility genes, we conducted a genome-wide association stu…


Variant rs9939609 in the FTO gene is associated with body mass index among chinese children.

BACKGROUND: fat-mass and obesity-associated (FTO) gene is a gene located in chromosome region 16q12.2.Anoxia anoxica genetic variants in FTO are associated with the obesity phenotype in european and hispanic popula…


A large-scale, consortium-based genomewide association study of asthma.

BACKGROUND: susceptibility to asthma is influenced by genes and environment; implicated genes may indicate pathways for therapeutic intervention. Genetic risk factors may be useful in identifying subt…


Novel association of severe neonatal encephalopathy and hirschsprung disease in a male with a duplication at the xq28 region.

BACKGROUND: hirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of parasympathetic intrinsic ganglion cells in the submucosal and myenteric plexuses along a variable portion…Anoxia anoxica


Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.

Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly in the developed world. We conducted a genome-wide association study in a series of families enriched for AMD an…


Familial dyslexia in a large swedish family: a whole genome linkage scan.

There is a compelling body of evidence that developmental dyslexia runs in families and seems to be highly inheritable. Several investigations during the last two decades have shown possible locations…


Genetic epidemiology: successes and challenges of genome-wide association studies using the example of age-related macular degeneration.Anoxia anoxica


ADRA2A polymorphisms and ADHD in adults: possible mediating effect of personality.

Several studies have tested for the association between polymorphisms in the ADRA2A gene and childhood ADHD. A meta-analysis of these results, however, has pointed towards a significant heterogeneity,…


Protein microarrays for genome-wide posttranslational modification analysis.

Protein microarray technology has emerged as a powerful tool for comparing binding interactions, expression level, substrate specificities, and posttranslational modifications (ptms) of different prot…


[genetic insights of allergic diseases and allergic conjunctivitis].

Applied methodologies on genetics have progressed rapidly in recent years.Anoxia anoxica single nucleotide polymorphism based candidate gene strategy and whole genome scanning technology can provide unprecedented i…


Genomics of ankylosing spondylitis.

Ankylosing spondylitis (AS) is the prototypic and most prevalent and debilitating spondyloarthropathy, a group of arthritides where the spine and pelvis are specifically targeted. Unlike many other fo…


GWAS identifies a common breast cancer risk allele among BRCA1 carriers.


From genetic association to molecular mechanism.

Over the past 3 years, there has been a dramatic increase in the number of confirmed type 2 diabetes (T2D) susceptibility loci, most arising through the implementation of genome-wide association studi…Anoxia anoxica


Meta-analysis of genetic association studies and adjustment for multiple testing of correlated snps and traits.

Meta-analysis has become a key component of well-designed genetic association studies due to the boost in statistical power achieved by combining results across multiple samples of individuals and the…


Lack of association between snps in the NEUROD2 gene and alcohol dependence in a german patient sample.

Results of a human post mortem study performed by our own group have suggested that the transcription factor NEUROD2, which plays a role in neuronal development, as well as in the development of anxie…


Hundreds of variants clustered in genomic loci and biological pathways affect human height.Anoxia anoxica

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified…


Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism.


PSA and beyond: the past, present, and future of investigative biomarkers for prostate cancer.

The discovery of prostate-specific antigen (PSA) as a biomarker represented a major discovery in the early diagnosis and monitoring of prostate cancer. However, the use of PSA is limited by the lack o…


Biological validation of increased schizophrenia risk with NRG1, ERBB4, and AKT1 epistasis via functional neuroimaging in healthy controls.Anoxia anoxica

CONTEXT: NRG1 is a schizophrenia candidate gene and plays an important role in brain development and neural function. Schizophrenia is a complex disorder, with etiology likely due to epistasis. OBJECT…


Genome-wide analysis reveals methyl-cpg-binding protein 2-dependent regulation of micrornas in a mouse model of rett syndrome.

MicroRNAs (mirnas) are a class of small, noncoding rnas that function as posttranscriptional regulators of gene expression. Many mirnas are expressed in the developing brain and regulate multiple aspe…


Common variants in the ATP2B1 gene are associated with susceptibility to hypertension: the japanese millennium genome project.

Hypertension is one of the most common complex genetic disorders.Anoxia anoxica we have described previously 38 single nucleotide polymorphisms (snps) with suggestive association with hypertension in japanese indiv…


Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between bod…


The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus.

BACKGROUND: thoracic aortic aneurysms and dissections (TAAD) is a critical condition that often goes undiagnosed with fatal consequences. While majority of the cases are sporadic, more than 20% are in…Anoxia anoxica


Association between angiotensin-converting enzyme insertion/deletion genetic polymorphism and hypertension in a sample of lebanese patients.

BACKGROUND/AIM: several studies have looked at the potential link between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and the risk of hypertension and have shown that the…


Variance heterogeneity analysis for detection of potentially interacting genetic loci: method and its limitations.

BACKGROUND: presence of interaction between a genotype and certain factor in determination of a trait’s value, it is expected that the trait’s variance is increased in the group of subjects having thi…


Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation.Anoxia anoxica

Stuttering is a disorder that affects the fluency of speech. It has been shown to have high heritability and has recently been linked to mutations in the GNPTAB gene. One such mutation, glu1200lys, ha…


Cognitive state and connectivity effects of the genome-wide significant psychosis variant in ZNF804A.

Alterations of connectivity are central to the systems-level pathophysiology of schizophrenia. One of the best-established genome-wide significant risk variants for this highly heritable disorder, the…


Nine-year stability of type D personality: contributions of genes and environment.

OBJECTIVE: to assess longitudinal changes in genetic and environmental influences on type D personality and its subcomponents negative affectivity (NA) and social inhibition (SI) over a 9-year period….Anoxia anoxica


Significance levels in genome-wide interaction analysis (GWIA).

Interaction between genetic variants is hypothesized to be one of several putative explanations for the ‘case of missing heritability.’ therefore, genome-wide interaction analysis (GWIA) has recently …


Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area.

BACKGROUND: the human natural killer-1 carbohydrate (HNK-1) is involved in neurodevelopment and synaptic plasticity. Extracellular matrix structures called perineuronal nets, condensed around subsets …


Association analyses identify six new psoriasis susceptibility loci in the chinese population.Anoxia anoxica

We extended our previous genome-wide association study for psoriasis with a multistage replication study including 8,312 individuals with psoriasis (cases) and 12,919 controls from china as well as 3,…


Genetics in schizophrenia: where are we and what next?

Understanding the genetic basis of schizophrenia continues to be major challenge. The research done during the last two decades has provided several candidate genes which unfortunately have not been c…


The INSIG2 rs7566605 polymorphism is not associated with body mass index and breast cancer risk.

BACKGROUND: the single nucleotide polymorphism rs7566605, located in the promoter of the INSIG2 gene, has been the subject of a strong scientific effort aimed to elucidate its possible association wit…Anoxia anoxica


The psychiatric GWAS consortium: big science comes to psychiatry.

The psychiatric GWAS consortium was founded with the aim of conducting statistically rigorous and comprehensive GWAS meta-analyses for five major psychiatric disorders: ADHD, autism, bipolar disorder,…


Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16.

Performance IQ (PIQ) greater than verbal IQ (VIQ) is often observed in studies of the cognitive abilities of autistic individuals. This characteristic is correlated with social and communication impai…


Accuracy of direct genomic values derived from imputed single nucleotide polymorphism genotypes in jersey cattle.

The objective of the present study was to evaluate the predictive ability of direct genomic values for economically important dairy traits when genotypes at some single nucleotide polymorphism (SNP) l…Anoxia anoxica


Imputation of genotypes from different single nucleotide polymorphism panels in dairy cattle.

Imputation of missing genotypes is important to join data from animals genotyped on different single nucleotide polymorphism (SNP) panels. Because of the evolution of available technologies, economica…


Mediation of CTCF transcriptional insulation by DEAD-box RNA-binding protein p68 and steroid receptor RNA activator SRA.

CCCTC-binding factor (CTCF) is a DNA-binding protein that plays important roles in chromatin organization, although the mechanism by which CTCF carries out these functions is not fully understood. Rec…


Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in filipino women.Anoxia anoxica

Increased values of multiple adiposity-related anthropometric traits are important risk factors for many common complex diseases. We performed a genome-wide association (GWA) study for four quantitati…


The generation R study: design and cohort update 2010.

The generation R study is a population-based prospective cohort study from fetal life until young adulthood. The study is designed to identify early environmental and genetic causes of normal and abno…


Genome-wide association scan of dupuytren’s disease.

PURPOSE: dupuytren’s disease (DD) has a strong genetic component that is suggested by population studies and family clustering. Genetic studies have yet to identify the gene(s) involved in DD.Anoxia anoxica the pur…


Whole-genome sequencing and comprehensive variant analysis of a japanese individual using massively parallel sequencing.

We report the analysis of a japanese male using high-throughput sequencing to x 40 coverage. More than 99% of the sequence reads were mapped to the reference human genome. Using a bayesian decision me…


Genome-wide identification of saccharomyces cerevisiae genes required for tolerance to acetic acid.

BACKGROUND: acetic acid is a byproduct of saccharomyces cerevisiae alcoholic fermentation. Together with high concentrations of ethanol and other toxic metabolites, acetic acid may contribute to ferme…