Results 51 to 60 of about 22,244,058 (261)

Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits [PDF]

open access: yes, 2011
Nonalcoholic fatty liver disease (NAFLD) clusters in families, but the only known common genetic variants influencing risk are near PNPLA3. We sought to identify additional genetic variants influencing NAFLD using genome-wide association (GWA) analysis ...
Palmer Cameron D.   +803 more
core   +5 more sources

Integrating Genetics With Epidemiological Measurements Identifies Burden QTLs of Inflammatory Bowel Disease across 20 Countries

open access: yesAdvanced Science, EarlyView.
The burden quantitative trait locus (bQTL) analysis integrates epidemiological data from GBD study with genotype of 2 621 978 SNPs from 2414 individuals in 1000 Genomes Project across 20 countries. rs7633471 shows the strongest effect that each increase in centi‐allele frequency of the allele C associated with 10.00 decrease of age‐standardized ...
Chen Sun   +27 more
wiley   +1 more source

Microglial Deubiquitinase OTUD7B Stabilizes STAT3 to Promote Neuroinflammation and Cognitive Decline in Alzheimer's Disease

open access: yesAdvanced Science, EarlyView.
. ABSTRACT Neuroinflammation driven by microglial activation is a defining feature of Alzheimer's disease (AD), yet the molecular mechanisms sustaining this proinflammatory state remain unclear. Here, we identify the deubiquitinase OTUD7B as a critical regulator of microglial activation and AD pathology.
Luyao Li   +15 more
wiley   +1 more source

Genome-Wide Association Study Identifies Novel Pharmacogenomic Loci For Therapeutic Response to Montelukast in Asthma. [PDF]

open access: yesPLoS ONE, 2015
BACKGROUND:Genome-wide association study (GWAS) is a powerful tool to identify novel pharmacogenetic single nucleotide polymorphisms (SNPs). Leukotriene receptor antagonists (LTRAs) are a major class of asthma medications, and genetic factors contribute ...
Amber Dahlin   +7 more
doaj   +1 more source

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies [PDF]

open access: yes, 2012
<p>Background - Various genome-wide association studies (GWAS) have been done in ischaemic stroke, identifying a few loci associated with the disease, but sample sizes have been 3500 cases or less.
Furie, K.   +403 more
core   +2 more sources

Integrated Single‐Nucleus Multi‐Omics Atlases Reveal Lineage Plasticity and Regulatory Networks of Luminal Epithelial Cells During Mammary Gland Lactation and Involution

open access: yesAdvanced Science, EarlyView.
This study integrates single‐cell multi‐omics, spatial transcriptomics, and cross‐species comparative analyses to systematically characterize the cellular composition and differentiation trajectories of goat mammary epithelial cells, along with the gene regulatory networks and intercellular communication mechanisms governing these trajectories, thereby
Xiaoru Yan   +12 more
wiley   +1 more source

Integrating transcriptome-wide study and mRNA expression profiles yields novel insights into the biological mechanism of chondropathies

open access: yesArthritis Research & Therapy, 2019
Background Chondropathies are a group of cartilage diseases, which share some common pathogenetic features. The etiology of chondropathies is still largely obscure now.
Ping Li   +9 more
doaj   +1 more source

Genome-wide association study of behavioural and psychiatric features in human prion disease. [PDF]

open access: yes, 2015
Prion diseases are rare neurodegenerative conditions causing highly variable clinical syndromes, which often include prominent neuropsychiatric symptoms.
Carswell, C   +9 more
core  

Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis [PDF]

open access: yes, 2013
Genome-wide association studies and follow-up meta-analyses in Crohn's disease (CD) and ulcerative colitis (UC) have recently identified 163 disease-associated loci that meet genome-wide significance for these two inflammatory bowel diseases (IBD). These
Vermeire, S   +308 more
core   +3 more sources

Systematic Multi‐Level Analyses Decode the Arthritis‐Neurodegeneration Axis With In Vivo Validation

open access: yesAdvanced Science, EarlyView.
Arthritis and neurodegeneration are usually studied as separate disorders, but this study connects them through population evidence, genetic inference, transcriptomic mapping, and mouse models. It highlights RNF40 as a context‐dependent joint‐brain candidate, induced in inflammatory joints yet functionally linked to dopamine‐neuron vulnerability ...
Jinwen Wang   +7 more
wiley   +1 more source

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