Results 41 to 50 of about 271,662 (318)

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt, Marius Ygonia, Ali Manouchehrinia, Philippe Lefrançois, Ingrid Kockum, Adil Harroud   +5 more
wiley   +1 more source

Associations of Sleep and Shift Work with Osteoarthritis Risk

Arthritis Care &Research, Accepted Article.
Objective Daily rhythms may be critical for maintaining homeostasis of joint tissues. We aimed to investigate the relationships between circadian clock disruption, sleep, and osteoarthritis (OA) risk in humans. Methods In the UK Biobank, a prospective 500,000‐person cohort, we evaluated associations between sleep duration, sleeplessness/insomnia, and ...
Elizabeth L. Yanik, Abigail Bridgeman, Erik D. Herzog, Vy Pham, Bradley A. Evanoff, Farshid Guilak   +5 more
wiley   +1 more source

Relationship between NAFLD and coronary artery disease: A Mendelian randomization study

Hepatology, EarlyView., 2022
Abstract Background and Aims There is an ongoing debate on whether NAFLD is an active contributor or an innocent bystander in the pathogenesis of coronary artery disease (CAD). The aim of the present study was to assess the causal relationship between NAFLD and CAD.
Zhewen Ren, Pomme I. H. G. Simons, Anke Wesselius, Coen D. A. Stehouwer, Martijn C. G. J. Brouwers   +4 more
wiley   +1 more source

Effects of epigenetic age acceleration on kidney function: a Mendelian randomization study

Clinical Epigenetics, 2023
Background Previous studies have reported cross-sectional associations between measures of epigenetic age acceleration (EAA) and kidney function phenotypes. However, the temporal and potentially causal relationships between these variables remain unclear.
Yang Pan, Xiao Sun, Zhijie Huang, Ruiyuan Zhang, Changwei Li, Amanda H. Anderson, James P. Lash, Tanika N. Kelly   +7 more
doaj   +1 more source

Spatially explicit non-Mendelian diploid model

, 2009
We introduce a spatially explicit model for the competition between type $a$ and type $b$ alleles. Each vertex of the $d$-dimensional integer lattice is occupied by a diploid individual, which is in one of three possible states or genotypes: $aa$, $ab ...
Lanchier, N., Neuhauser, C.
core   +1 more source

Mettl3‐Mediated m6A Modification Represents a Novel Therapeutic Target for FSGS

Advanced Science, EarlyView.
This study explores the roles of Mettl3‐induced N6‐methyladenosine (m6A) modifications in Focal segmental glomerulosclerosis (FSGS). The findings reveal that inhibition of Mettl3 results in podocyte injury by modulating the TJP1CDC42 pathway. Moreover, Administration of N6‐methyladenosine attenuates the FSGS phenotype in WT mice induced by Adriamycin ...
Fubin Zhu, Hongzhi Li, Xiang Li, Chunxiu Du, Ting Wang, Xuling Zhou, Xiaobei Xie, Yunxia Shao, Yingzhi Huang, Yanling Hu, Xinxin Guo, Bin Zhu, Shanshan Yu, Xiaoyan Zhang, Binghai Zhao   +14 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics

Nature Communications, 2021
Mendelian Randomization approaches are being increasingly refined, but certain statistical limitations hinder their application to GWAS. Here, the authors propose a new Mendelian Randomization method to estimate bi- directional causal effects and ...
Liza Darrous, Ninon Mounier, Zoltán Kutalik   +2 more
doaj   +1 more source

MendelianRandomization v0.9.0: updates to an R package for performing Mendelian randomization analyses using summarized data [version 1; peer review: 2 approved]

Wellcome Open Research, 2023
The MendelianRandomization package is a software package written for the R software environment that implements methods for Mendelian randomization based on summarized data.
Stephen Burgess, Ting Ye, Ashish Patel, Zhaotong Lin, Amy M. Mason, Haoran Xue, Benjamin Woolf, Siqi Xu   +7 more
doaj   +1 more source