Results 91 to 100 of about 48,393 (270)

SDPR–STK38 axis controls the proliferation–differentiation balance in alveolar type II cells

Animal Models and Experimental Medicine, EarlyView.
The present study identifies SDPR as a pivotal regulator orchestrating the balance between proliferation and differentiation in alveolar type II (AT2) cells. In SDPR+/+ cells, SDPR binds to and inhibits STK38 activity, thereby sustaining GSK‐3β signaling functionality to promote cyclin D1 degradation and maintain cell cycle homeostasis.
Jie Wang, Xuepei Lei, Yiying Huang, Jiaming Tang, Guiying Shi, Hang Li, Lin Bai   +6 more
wiley   +1 more source

Using genomic annotations increases statistical power to detect eGenes. [PDF]

, 2016
MotivationExpression quantitative trait loci (eQTLs) are genetic variants that affect gene expression. In eQTL studies, one important task is to find eGenes or genes whose expressions are associated with at least one eQTL. The standard statistical method
Duong, Dat, Ernst, Jason, Eskin, Eleazar, Han, Buhm, Hormozdiari, Farhad, Sul, Jae Hoon, Zou, Jennifer   +6 more
core   +1 more source

Integrative analysis of low- and high-resolution eQTL.

PLoS ONE, 2010
The study of expression quantitative trait loci (eQTL) is a powerful way of detecting transcriptional regulators at a genomic scale and for elucidating how natural genetic variation impacts gene expression.
Salvatore Loguercio, Rupert W Overall, Jacob J Michaelson, Tim Wiltshire, Mathew T Pletcher, Brooke H Miller, John R Walker, Gerd Kempermann, Andrew I Su, Andreas Beyer   +9 more
doaj   +1 more source

Tissue Damage in Rheumatoid Arthritis Is Genetically Linked to Low Peptidylglycine Alpha‐Amidating Monooxygenase Activity in Synovial Fibroblasts

Arthritis &Rheumatology, EarlyView.
Objective Both susceptibility to, and severity of, rheumatoid arthritis (RA) is associated with the rs26232 C allele. Our primary aim was to identify the biologic mechanism underlying this association. Methods Expression of surrounding genes was compared among rs26232 genotypes.
Kevin J. Sheridan, Emma R. Dorris, Maria Inês Pimenta, Jemma Falkov, Matthew Fisher, Sam Pledger, Hector Devey, Munitta Muthana, Denis C. Shields, Richard E. Mains, Betty A. Eipper, Christopher D. Buckley, Anthony G. Wilson   +12 more
wiley   +1 more source

A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver

Scientific Reports, 2018
Genome-wide association studies (GWAS) have identified numerous genetic variants in the human genome associated with diseases and traits. Nevertheless, for most loci the causative variant is still unknown.
Tobias Strunz, Felix Grassmann, Javier Gayán, Satu Nahkuri, Debora Souza-Costa, Cyrille Maugeais, Sascha Fauser, Everson Nogoceke, Bernhard H. F. Weber   +8 more
doaj   +1 more source

Overlap between eQTL and QTL associated with production traits and fertility in dairy cattle

BMC Genomics, 2019
Background Identifying causative mutations or genes through which quantitative trait loci (QTL) act has proven very difficult. Using information such as gene expression may help to identify genes and mutations underlying QTL.
I. van den Berg, B. J. Hayes, A. J. Chamberlain, M. E. Goddard   +3 more
doaj   +1 more source

LORSEN: Fast and Efficient eQTL Mapping With Low Rank Penalized Regression

Frontiers in Genetics, 2021
Characterization of genetic variations that are associated with gene expression levels is essential to understand cellular mechanisms that underline human complex traits.
Cheng Gao, Hairong Wei, Kui Zhang
doaj   +1 more source

PharmVar GeneFocus: CYP1A2—Clinical Impact, Genetic Variation, and Updated Nomenclature

Clinical Pharmacology &Therapeutics, EarlyView.
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP1A2 gene. CYP1A2 plays a crucial role in the biotransformation of several commonly used drugs, including antipsychotics, antidepressants, anxiolytics, and methylxanthines.
Katalin Monostory, Gonzalo Villapalos Garcia, Dora Koller, Solomon Adams, Chad A. Bousman, Evangelia Eirini Tsermpini, Michelle Whirl‐Carrillo, Amy J. Turner, Volker M. Lauschke, Mohamed Nagy, Erin C. Boone, Teri E. Klein, Pablo Zubiaur, Andrea Gaedigk   +13 more
wiley   +1 more source

Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants. [PDF]

, 2020
The Genotype-Tissue Expression (GTEx) resource has provided insights into the regulatory impact of genetic variation on gene expression across human tissues; however, thus far has not considered how variation acts at the resolution of the different cell ...
D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, Donovan, Margaret KR, Frazer, Kelly A   +3 more
core  

Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural Youth

Clinical Pharmacology &Therapeutics, EarlyView.
Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited.
Jack W. Staples, Shayna R. Killam, Karen E. Brown, Rachel Dalton, Elizabeth Sather, Qiang Chen, Joshua Loveland, Corbin Schwanke, Abdallah F. Elias, Kristin L. Bigos, Erica L. Woodahl   +10 more
wiley   +1 more source