Results 111 to 120 of about 189,144 (345)

Complementary multi‐omics profiling of chronic thromboembolic pulmonary hypertension reveals immune cell alterations, epigenetic changes, and genetically supported candidate genes

Animal Models and Experimental Medicine, EarlyView.
This study presents an integrative multi‐omics framework to uncover the molecular mechanisms and potential biomarkers of chronic thromboembolic pulmonary hypertension (CTEPH). Anthropometric and biochemical data were correlated using canonical correlation analysis, revealing key cardiometabolic associations. Single‐cell RNA sequencing identified immune
Xiaopeng Liu, Xia Zheng, Yajun Zhang, Yinghui Fang, Yanan Zhen   +4 more
wiley   +1 more source

Identification of Candidate Variants Associated with Milk Production, Health and Reproductive Traits for Holstein Cows in Southern China

Agriculture
Genome-wide association studies (GWAS) have been a successful tool for identifying quantitative trait loci (QTL) for economically important traits in dairy cows.
Tingxian Deng, Lei Cheng, Chenhui Liu, Min Xiang, Qing Liu, Bo Yu, Hongbo Chen   +6 more
doaj   +1 more source

Genetic prediction of blood cell reactivity and its potential causal influence on bone continuity and density disorders

Animal Models and Experimental Medicine, EarlyView.
We applied Mendelian randomization to explore causal links between blood cell traits and skeletal disorders. Using genetic instruments from large‐scale summary statistics, we assessed effects on bone continuity, density, and structural integrity. Sensitivity and reverse analyses confirmed robust associations, highlighting potential shared biological ...
Zhiqin Deng, Zhe Zhao, Wenting Jiang, Xiaoqiang Chen, Jianquan Liu, Xu Tao, Zhengyang Lin, Zhenhan Deng, Wencui Li   +8 more
wiley   +1 more source

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi, Chiara Villella, Matteo Zanovello, Virginia Iacobelli, Stefania Corti, Giacomo Pietro Comi, Pietro Fratta, Henry Houlden, Arianna Tucci, Dario Ronchi   +9 more
wiley   +1 more source

Coanalysis of GWAS with eQTLs reveals disease-tissue associations. [PDF]

, 2012
Expression quantitative trait loci (eQTL), or genetic variants associated with changes in gene expression, have the potential to assist in interpreting results of genome-wide association studies (GWAS).
Butte, Atul J, Chen, Rong, Kang, Hyunseok Peter, Morgan, Alex A, Schadt, Eric E   +4 more
core   +1 more source

Cerebrospinal Fluid from Restless Legs Syndrome Patients Reduces Iron Uptake in Blood–Brain Barrier Endothelial Cells by Disrupting the Regulation of Transferrin Receptors

Annals of Neurology, EarlyView.
Model figure of BBBECs TfR1 regulation in control and RLS: Graphical representation of TfR1 regulation in ECs by IRPs and representing it can be dysregulated by miR‐124‐3p in ECs of RLS. FPN1, ferroportin; BBBEC, blood‐brain barrier endothelial cells; IRP, iron regulatory proytein1/2; TfR1, Transferrin receptor; IRE, Iron responsive elements; Tf ...
Kondaiah Palsa, Aurosman Pappus Sahu, David B. Rye, Lynn Marie Trotti, Irina A. Elcheva, Vladimir S. Spiegelman, James R. Connor   +6 more
wiley   +1 more source

Admixture mapping and subsequent fine-mapping suggests a biologically relevant and novel association on chromosome 11 for type 2 diabetes in African Americans.

PLoS ONE, 2014
Type 2 diabetes (T2D) is a complex metabolic disease that disproportionately affects African Americans. Genome-wide association studies (GWAS) have identified several loci that contribute to T2D in European Americans, but few studies have been performed ...
Janina M Jeff, Loren L Armstrong, Marylyn D Ritchie, Joshua C Denny, Abel N Kho, Melissa A Basford, Wendy A Wolf, Jennifer A Pacheco, Rongling Li, Rex L Chisholm, Dan M Roden, M Geoffrey Hayes, Dana C Crawford   +12 more
doaj   +1 more source

Association mapping from sequencing reads using k-mers [PDF]

, 2018
Genome wide association studies (GWAS) rely on microarrays, or more recently mapping of sequencing reads, to genotype individuals. The reliance on prior sequencing of a reference genome limits the scope of association studies, and also precludes mapping ...
Eisen, Michael, Hallgrímsdóttir, Ingileif, Pachter, Lior, Rahman, Atif   +3 more
core   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Genome-Wide Association Studies (GWAS) Approaches for the Detection of Genetic Variants Associated with Antibiotic Resistance: A Systematic Review. [PDF]

Microorganisms, 2023
Mosquera-Rendón J, Moreno-Herrera CX, Robledo J, Hurtado-Páez U.   +3 more
europepmc   +1 more source