Results 111 to 120 of about 241,345 (301)

Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma

The Application of Clinical Genetics, 2021
Altaf A Kondkar1– 3 1Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; 2Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; 3King Saud University ...
Kondkar AA
doaj  

gwas-vcf-specification

, 2020
The Variant Call Format Summary Statistics Specification v1 ...
Lyon, Matthew S, Andrews, Shea J, Elsworth, Ben, Gaunt, Tom R, Hemani, Gibran, Marcora, Edoardo   +5 more
openaire   +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

Oral Microbiota and Pharyngeal-Laryngeal Cancer Risk: Evidence from Mendelian Randomization in East Asian Populations

Polish Journal of Microbiology
Pharyngeal and laryngeal cancer (PLC) encompasses a range of aggressive malignancies associated with substantial clinical impact, underscoring the need for novel preventive and therapeutic measures.
FU JINGFENG
doaj   +1 more source

Enhancer Dysfunction in 3D Genome and Disease

Cells, 2019
Spatiotemporal patterns of gene expression depend on enhancer elements and other factors during individual development and disease progression. The rapid progress of high-throughput techniques has led to well-defined enhancer chromatin properties ...
Ji-Han Xia, Gong-Hong Wei
doaj   +1 more source

High Performance Solutions for Big-data GWAS

, 2014
In order to associate complex traits with genetic polymorphisms, genome-wide association studies process huge datasets involving tens of thousands of individuals genotyped for millions of polymorphisms. When handling these datasets, which exceed the main
Bientinesi, Paolo, Fabregat-Traver, Diego, Peise, Elmar   +2 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

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

GWAS-Significant Loci and Uterine Fibroids Risk: Analysis of Associations, Gene-Gene and Gene-Environmental Interactions

Frontiers in Bioscience-Scholar
Background: Uterine fibroids (UF) is the most common benign tumour of the female reproductive system. We investigated the joint contribution of genome-wide association studies (GWAS)-significant loci and environment-associated risk ...
Liubov Ponomareva, Ksenia Kobzeva, Olga Bushueva   +2 more
doaj   +1 more source

Life After GWAS [PDF]

Arteriosclerosis, Thrombosis, and Vascular Biology, 2012
The genome-wide association studies (GWAS) of recent years have provided the first unbiased views of genes contributing to cardiovascular disorders in European and some Asian and African populations. In addition to extending these studies using techniques such as deep sequencing, the major challenge at present is to understand how the novel genes ...
openaire   +1 more source