Results 131 to 140 of about 244,292 (300)

Distinct effects of complement C4A and C4B copy number in Systemic Sclerosis serological and clinical subtypes

Arthritis &Rheumatology, Accepted Article.
Objective Complement component 4 (C4), encoded by C4A and C4B within the major histocompatibility complex (MHC) on chromosome 6, regulates the immune response and clears immune complexes. Variable copy number (CN) of C4 genes and retroviral HERV‐K element influence its function.
Javier Martínez‐López, Carlos Rangel‐Peláez, Inmaculada Rodriguez‐Martin, Alfredo Guillen‐Del‐Castillo, Carmen P Simeón‐Aznar, José L Callejas, International SSc Group; PRECISESADs Clinical Consortium, Oliver Distler, Susanna M Proudman, Mandana Nikpour, Australian Scleroderma Interest Group (ASIG), Nicolas Hunzelmann, Gianluca Moroncini, Jeska K de Vries‐Bouwstra, Ariane L Herrick, Yannick Allanore, Marta E. Alarcon‐Riquelme, Lorenzo Beretta, Shervin Assassi, Christopher P Denton, Maureen D Mayes, Javier Martin, Marialbert Acosta‐Herrera, Martin Kerick   +23 more
wiley   +1 more source

Distribution of rs6795970 SNP variants in SCN10A gene in young population of the Republic of Moldova.

Buletinul Academiei de Ştiinţe a Moldovei: Ştiinţe Medicale, 2020
Background. PR interval reflects atrial and atrioventricular nodal conduction time and is an important determinant of arrhythmia risk. Genome-wide association studies (GWAS) have identified association of nonsynonymous SNP, rs6795970, in the SCN10A gene ...
Cristina Butovscaia, Anastasia Buza, Daniela Abduşa, G. Kurochkin   +3 more
doaj  

Deep Post-GWAS Analysis Identifies Potential Risk Genes and Causal Variants for Alzheimer’s Disease, Providing New Insights Into Its Disease Mechanisms [PDF]

, 2020
Zhen Wang, Quanwei Zhang, Jhih-Rong Lin, M.Reza Jabalamel, Joydeep Mitra, Nha Nguyen, Zhengdong Zhang   +6 more
openalex   +1 more source

GWAS reveal a role for the central nervous system in regulating weight and weight change in response to exercise [PDF]

, 2021
Louis P. Watanabe, Nicole C. Riddle
openalex   +1 more source

An Update to the Clinical Pharmacogenetics Implementation Consortium (CPIC) SLCO1B1 Allele Functionality Table Leveraging Evidence from Participants of Predominantly Sub‐Saharan African Ancestry

Clinical Pharmacology &Therapeutics, EarlyView.
The Clinical Pharmacogenetics Implementation Consortium (CPIC) has formally updated the SLCO1B1 allele functionality table based on new evidence. Notably, the alleles studied (SLCO1B1 *9, *31, *41) are enriched in the genomes of patients historically excluded from pharmacogenomics research.
Akinyemi Oni‐Orisan, Sook Wah Yee, Tanushree Haldar, Michelle Whirl‐Carrillo, Kelly Caudle, Deepak Voora, Richard B. Kim   +6 more
wiley   +1 more source

Genetic Variants Associated with Hypertension Risk: Progress and Implications

Pulse
Background: Genetic variants causing diseases with hypertension as a secondary feature have previously been identified. Studies focussing on primary hypertension have utilised common and latterly rare genetic variants in attempts to elucidate the genetic
David Curtis
doaj   +1 more source

Navigating the Genetic Risk of Chemotherapy‐Induced Hearing Loss in the Stria Vascularis

Clinical Pharmacology &Therapeutics, EarlyView.
Cisplatin is a chemotherapy drug that causes permanent hearing loss by damaging a critical tissue lining the inner ear, called the stria vascularis (SV). Currently, the molecular mechanisms of SV damage are largely unknown and the incidence of ototoxicity in patients cannot be reliably predicted.
Tara Lazetic, Deanne Nixie R. Miao, Britt I. Drögemöller, Alain Dabdoub, Julia M. Abitbol   +4 more
wiley   +1 more source

Pharmacogenomics And Hypertension: Current Insights

Pharmacogenomics and Personalized Medicine, 2019
Gustavo H Oliveira-Paula,1,2 Sherliane C Pereira,2 Jose E Tanus-Santos,2 Riccardo Lacchini3 1Department of Medicine, Division of Cardiology, Wilf Family Cardiovascular Research Institute, Albert Einstein College of Medicine, New York, NY, USA ...
Oliveira-Paula GH, Pereira SC, Tanus-Santos JE, Lacchini R   +3 more
doaj  

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

Associations of GWAS-Supported Non-MHC Genes with Autoimmune Thyroiditis in Patients with Type 1 Diabetes

, 2021
Jialin Liang, Ganxiong Liang, Zhonghua Liu, Huan Cai   +3 more
openalex   +2 more sources