Results 111 to 120 of about 4,615,445 (390)

Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors

open access: yesJournal of the American Medical Association (JAMA), 2018
Importance Body fat distribution, usually measured using waist-to-hip ratio (WHR), is an important contributor to cardiometabolic disease independent of body mass index (BMI).
L. Lotta   +18 more
semanticscholar   +1 more source

Modifications in FLAP's second cytosolic loop influence 5‐LOX interaction, inhibitor binding, and leukotriene formation

open access: yesFEBS Letters, EarlyView.
The enzyme 5‐lipoxygenase (5‐LOX) catalyzes the first step in the biosynthesis of leukotrienes (LTs) involved in inflammatory pathophysiology. After cellular stimulation, 5‐LOX translocates to the nucleus, interacting with the 5‐LOX‐activating protein (FLAP) to form LTA4 from arachidonic acid (AA).
Erik Romp   +5 more
wiley   +1 more source

Evidence of widespread selection on standing variation in Europe at height-associated SNPs. [PDF]

open access: yes, 2012
Strong signatures of positive selection at newly arising genetic variants are well documented in humans(1-8), but this form of selection may not be widespread in recent human evolution(9).
Chiang, Charleston WK   +6 more
core   +1 more source

The carboxylate “gripper” of the substrate is critical for C‐4 stereo‐inversion by UDP‐glucuronic acid 4‐epimerase

open access: yesFEBS Letters, EarlyView.
UDP‐glucuronic acid 4‐epimerase (UGAepi) catalyzes NAD+‐dependent interconversion of UDP‐glucuronic acid (UDP‐GlcA) and UDP‐galacturonic acid (UDP‐GalA) via C4‐oxidation, 4‐keto‐intermediate rotation, and C4‐reduction. Here, Borg et al. examined the role of the substrate's carboxylate group in the enzymic mechanism by analyzing NADH‐dependent reduction
Annika J. E. Borg   +2 more
wiley   +1 more source

Factorial Mendelian randomization: using genetic variants to assess interactions

open access: yesbioRxiv, 2019
Background Factorial Mendelian randomization is the use of genetic variants to answer questions about interactions. Although the approach has been used in applied investigations, little methodological advice is available on how to design or perform a ...
Jessica M B Rees   +2 more
semanticscholar   +1 more source

B cell mechanobiology in health and disease: emerging techniques and insights into therapeutic responses

open access: yesFEBS Letters, EarlyView.
B cells sense external mechanical forces and convert them into biochemical signals through mechanotransduction. Understanding how malignant B cells respond to physical stimuli represents a groundbreaking area of research. This review examines the key mechano‐related molecules and pathways in B lymphocytes, highlights the most relevant techniques to ...
Marta Sampietro   +2 more
wiley   +1 more source

A pathway analysis of genome-wide association study highlights novel type 2 diabetes risk pathways. [PDF]

open access: yes, 2017
Genome-wide association studies (GWAS) have been widely used to identify common type 2 diabetes (T2D) variants. However, the known variants just explain less than 20% of the overall estimated genetic contribution to T2D.
Hu, Yang   +5 more
core   +3 more sources

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

open access: yesNature Genetics, 2017
Major depressive disorder (MDD) is a common illness accompanied by considerable morbidity, mortality, costs, and heightened risk of suicide. We conducted a genome-wide association meta-analysis based in 135,458 cases and 344,901 controls and identified ...
N. Wray   +215 more
semanticscholar   +1 more source

Genetic variants associated with sleep disorders

open access: yesSleep Medicine, 2015
The diagnostic boundaries of sleep disorders are under considerable debate. The main sleep disorders are partly heritable; therefore, defining heritable pathophysiologic mechanisms could delineate diagnoses and suggest treatment. We collected clinical data and DNA from consenting patients scheduled to undergo clinical polysomnograms, to expand our ...
Elizabeth K. Hahn   +13 more
openaire   +5 more sources

Genetic variants associated with disordered eating [PDF]

open access: yesInternational Journal of Eating Disorders, 2013
ObjectiveAlthough the genetic contribution to the development of anorexia nervosa (AN) has long been recognized, there has been little progress relative to other psychiatric disorders in identifying specific susceptibility genes. Here, we have carried out a genome‐wide association study on an unselected community sample of female twins surveyed for ...
Wade, Tracey D.   +6 more
openaire   +4 more sources

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