Results 101 to 110 of about 499,359 (306)

Many obesity-associated SNPs strongly associate with DNA methylation changes at proximal promoters and enhancers

Genome Medicine, 2015
The mechanisms by which genetic variants, such as single nucleotide polymorphisms (SNPs), identified in genome-wide association studies act to influence body mass remain unknown for most of these SNPs, which continue to puzzle the scientific community ...
S. Voisin, M. S. Almén, Galina Y. Zheleznyakova, Lina Lundberg, S. Zarei, S. Castillo, F. Eriksson, E. Nilsson, M. Blüher, Y. Böttcher, P. Kovacs, J. Kloviņš, M. Rask-Andersen, H. Schiöth   +13 more
semanticscholar   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Population genetic structure, linkage disequilibrium and effective population size of conserved and extensively raised village chicken populations of Southern Africa

Frontiers in Genetics, 2015
Extensively raised village chickens are considered a valuable source of biodiversity, with genetic variability developed over thousands of years that ought to be characterised and utilized.
Khulekhani Sedwell Khanyile, Khulekhani Sedwell Khanyile, Edgar Farai Dzomba, Farai Catherine Muchadeyi   +3 more
doaj   +1 more source

Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs

Nature Genetics, 2012
Schizophrenia is a complex disorder caused by both genetic and environmental factors. Using 9,087 affected individuals, 12,171 controls and 915,354 imputed SNPs from the Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (PGC-SCZ),
S. H. Lee, Teresa R. Decandia, S. Ripke, Jian Yang, Jian Yang, P. Sullivan, M. Goddard, M. Keller, P. Visscher, P. M. Visscher, P. Visscher, Naomi R. Wray, Naomi R. Wray   +12 more
semanticscholar   +1 more source

Clinical Significance of Therapeutic Drug Level Monitoring for Mycophenolate in Patients With Extrarenal Systemic Lupus Erythematosus—A Systematic Review and Meta‐Analysis

Arthritis Care &Research, EarlyView.
Objective Clinical response to mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug level monitoring (TDM) may help improve treatment efficacy. This systematic review and meta‐analysis examined therapeutic ranges for MPA levels associated with better outcomes and safety in patients with systemic lupus erythematosus (SLE ...
Zahraa Qamhieh, Dalia Sriwi, Callie Saric, Tripti Singh, Christie M. Bartels, Shivani Garg   +5 more
wiley   +1 more source

Progress toward an efficient panel of SNPs for ancestry inference.

Forensic Science International: Genetics, 2014
Many panels of ancestry informative single nucleotide polymorphisms have been proposed in recent years for various purposes including detecting stratification in biomedical studies and determining an individual's ancestry in a forensic context.
K. Kidd, W. Speed, A. Pakstis, M. Furtado, Rixun Fang, A. Madbouly, M. Maiers, Mridu Middha, F. Friedlaender, J. Kidd   +9 more
semanticscholar   +1 more source

Tropomyosin 1 Promotes Platelet Adhesion and Clot Contraction Separate from Its Roles in Developmental Hematopoiesis

Advanced Science, EarlyView.
ABSTRACT Genome‐wide association studies (GWAS) link the Tropomyosin 1 (Tpm1) locus to quantitative blood trait variation, but related mechanisms are unclear. Tpm1 encodes an actin‐binding protein that regulates actin filament diversity, cell adhesion, signaling, and actomyosin contractility.
Po‐Lun Kung, Victor Tsao, Alina D Peshkova, Oscar A. Marcos‐Contreras, Kim Ha, Brian M Dulmovits, Nkemdilim Okoli, Anvi Sinha, Gennadiy Fonar, Rong Qiu, Rolf D Bates, Janelle Yeboah, Carson Shalaby, Tyler Truex, Soomin Jeong, Edna C Hardeman, Peter W Gunning, Vladimir R Muzykantov, Jacob W Myerson, Christopher S Thom   +19 more
wiley   +1 more source

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

Nature Genetics, 2008
Accurate and complete measurement of single nucleotide (SNP) and copy number (CNV) variants, both common and rare, will be required to understand the role of genetic variation in disease.
Joshua M. Korn, F. Kuruvilla, S. Mccarroll, Alec Wysoker, J. Nemesh, S. Cawley, E. Hubbell, Jim Veitch, P. Collins, K. Darvishi, Charles Lee, Marcia M. Nizzari, S. Gabriel, S. Purcell, M. Daly, D. Altshuler   +15 more
semanticscholar   +1 more source

m6A‐Mediated Glycolysis by IL‐37 Drives T Cell Metabolic Reprogramming to Regulate Colitis

Advanced Science, EarlyView.
This study identifies an IL‐37/SIGIRR‐METTL14 regulatory axis that suppresses global m6A modification in CD4+ T cells. IL‐37 signaling, mediated through SIGIRR, inhibits IRAK4 and JNK phosphorylation, leading to downregulation of the methyltransferase METTL14.
Xiaoyan Wang, Jiadong Yu, Guolin Li, Ya Li, Fanlian Zeng, Jing Hu, Yifan Zhou, Chengcheng Yue, Qixiang Zhao, Chen Zhang, Hong Zhou, Fulei Zhao, Yawen Hu, Pei Zhou, Linna Gu, Yuting Feng, Mingxiang He, Shishi Huang, Xiaochi Sun, Xinmeng Wang, Jie Tang, Xinyu Zeng, Wenling Wu, Nongyu Huang, Xinai Cui, Kaijun Cui, Jiong Li   +26 more
wiley   +1 more source

Genome-wide association data classification and SNPs selection using two-stage quality-based Random Forests

BMC Genomics, 2015
Single-nucleotide polymorphisms (SNPs) selection and identification are the most important tasks in Genome-wide association data analysis. The problem is difficult because genome-wide association data is very high dimensional and a large portion of SNPs ...
Thanh-Tung Nguyen, J. Huang, Qingyao Wu, T. Nguyen, Mark Junjie Li   +4 more
semanticscholar   +1 more source