Results 121 to 130 of about 41,400 (238)

Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits. [PDF]

, 2019
The cardiac transcription factor (TF) gene NKX2-5 has been associated with electrocardiographic (EKG) traits through genome-wide association studies (GWASs), but the extent to which differential binding of NKX2-5 at common regulatory variants contributes
Benaglio, Paola, D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, DeBoever, Christopher, Donovan, Margaret KR, Drees, Frauke, Frazer, Kelly A, Gaulton, Kyle J, Li, He, Ma, Wubin, Matsui, Hiroko, Rosenfeld, Michael G, Singhal, Sanghamitra, Smith, Erin N, Sotoodehnia, Nona, van Setten, Jessica, Yang, Feng, Young Greenwald, William W   +17 more
core  

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro, Isabel Solares, Daniel Jericó, Francisco J. Castelbón, Javier Tomás Solera, Antoni Riera‐Mestre, María Barreda‐Sánchez, Carlo Poci, Annamaria Nicolli, Francesco Urigo, Ana Sampedro, Rafael Enríquez de Salamanca, Matteo Marcacci, Matías A. Ávila, Pauline Harper, Marta G. Fanlo‐Maresma, Encarna Guillén‐Navarro, Giovanna Graziadei, Andrea Wenzel, Bodo B. Beck, Paolo Ventura, Montserrat Morales‐Conejo, Antonio Fontanellas   +22 more
wiley   +1 more source

Unraveling the Causal Linkages of RBP7 and SCGB3A1 on Pelvic Organ Prolapse: Multifaceted Insights From Genome‐Wide Mendelian Randomization, Single‐Cell RNA Analysis, and Network Pharmacology

BioMed Research International, Volume 2026, Issue 1, 2026.
Background Pelvic organ prolapse (POP) is a common pelvic floor disorder in middle‐aged and elderly women. Its pathophysiology is complex, involving weakened pelvic floor muscles and connective tissues. There is a need to explore its underlying pathogenesis and develop effective treatments.
Ying Yang, Weiyuan Xing, Xiaoqin Wang, Qiran Sun, Ningning Hu, Liwen Zhang, Fuyun Dong, Rujun Chen, Saeed Mohammadi   +8 more
wiley   +1 more source

Genomic Structural Equation Modeling Combined With Post‐GWAS Analysis Identifies Two Risk Gene Loci and Functionally Sensitive Genes Associated With Cardiac Conduction Block

Genetics Research , Volume 2026, Issue 1, 2026.
Background Cardiac conduction disorders (CCDs) represent a broad spectrum of severe cardiovascular conditions associated with syncope and sudden cardiac death. Therefore, identification of reliable biomarkers is necessary to significantly improve the diagnostic accuracy and therapeutic outcomes of CCDs. This study analyzed GWAS summary datasets using a
Tongyu Wang, Xinge Miao, Yunlong Xia, Irfan Ahmad   +3 more
wiley   +1 more source

Identifying Thyroid Carcinoma-Related Genes by Integrating GWAS and eQTL Data [PDF]

, 2021
Fei Shen, Xiao‐Xiong Gan, Ruiying Zhong, Jianhua Feng, Zhen Chen, Mengli Guo, Yayi Li, Zhao‐Feng Wu, Wen-song Cai, Bo Xu   +9 more
openalex   +1 more source

An atlas of single-cell eQTLs dissects autoimmune disease genes and identifies novel drug classes for treatment

Cell Genomics
Summary: Most variants identified from genome-wide association studies (GWASs) are non-coding and regulate gene expression. However, many risk loci fail to colocalize with expression quantitative trait loci (eQTLs), potentially due to limited GWAS and ...
Lida Wang, Havell Markus, Dieyi Chen, Siyuan Chen, Fan Zhang, Shuang Gao, Chachrit Khunsriraksakul, Fang Chen, Nancy Olsen, Galen Foulke, Bibo Jiang, Laura Carrel, Dajiang J. Liu   +12 more
doaj   +1 more source

Estimation of Interpretable eQTL Effect Sizes Using a Log of Linear\n Model [PDF]

, 2016
John Palowitch, Andrey A. Shabalin, Yihui Zhou, Andrew B. Nobel, Fred A. Wright   +4 more
openalex   +1 more source

Integration of eQTL and GWAS analysis uncovers a genetic regulation of natural ionomic variation in Arabidopsis

, 2023
Chaoqun Xu, Lingyu Song, Ying Zhou, Dongna Ma, Qiansu Ding, Ze‐Jun Guo, Jing Li, Shi‐Wei Song, Lu-Dan Zhang, Hai‐Lei Zheng   +9 more
openalex   +1 more source

PICALO: principal interaction component analysis for the identification of discrete technical, cell-type, and environmental factors that mediate eQTLs

Genome Biology
Expression quantitative trait loci (eQTL) offer insights into the regulatory mechanisms of trait-associated variants, but their effects often rely on contexts that are unknown or unmeasured.
Martijn Vochteloo, Patrick Deelen, Britt Vink, BIOS Consortium, Ellen A. Tsai, Heiko Runz, Sergio Andreu-Sánchez, Jingyuan Fu, Alexandra Zhernakova, Harm-Jan Westra, Lude Franke   +10 more
doaj   +1 more source

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

, 2012
Dena Hernández, Mike A. Nalls, Matthew Moore, Sean Chong, Allissa Dillman, Daniah Trabzuni, J. Raphael Gibbs, Mina Ryten, Sampath Arepalli, Michael E. Weale, Alan B. Zonderman, Juan C. Troncoso, Richard M. O’Brien, Robert Walker, Colin Smith, Stefania Bandinelli, Bryan J. Traynor, John Hardy, Andrew B. Singleton, Mark Cookson   +19 more
openalex   +1 more source