Results 91 to 100 of about 6,365 (192)
Gene Variants Associated With Individual Sensitivity for Taste Changes After the COVID‐19 Infection
Human gustatory function is a complex trait combining taste, smell, and touch required for the safety and quality assessment of ingested food. Taste dysfunction is one of the most prominent symptoms of COVID‐19 that was reversible in most cases, but some patients reported permanent changes in their perception of different food sources.
Lejla Pojskic +7 more
wiley +1 more source
Andersen–Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1
Andersen–Tawil syndrome (ATS) type-1 is associated with loss-of-function mutations in KCNJ2 gene. KCNJ2 encodes the tetrameric inward-rectifier potassium channel Kir2.1, important to the resting phase of the cardiac action potential.
Reem Handklo-Jamal +15 more
doaj +1 more source
Endogenous driving and synchronization in cardiac and uterine virtual tissues: bifurcations and local coupling [PDF]
Cardiac and uterine muscle cells and tissue can be either autorhythmic or excitable. These behaviours exchange stability at bifurcations produced by changes in parameters, which if spatially localized can produce an ectopic pacemaking focus.
Benson, A.P. +4 more
core +1 more source
Nonsyndromic orofacial clefts (NSOC) are common congenital craniofacial developmental defects. Current evidence suggests that genetic factors, environmental exposures, and their interactions jointly contribute to the development of the disease. Owing to the high heritability of NSOC, identifying susceptibility genes and loci is a central focus of ...
Haolang Zhao +4 more
wiley +1 more source
Abstract Chloride intracellular channels (CLICs) are important in cardiac cellular physiology. We aimed to determine the pathophysiological roles of CLICs in the heart. For this, we analyzed CLIC expression in cardiomyocytes in a mouse transverse aortic constriction (TAC) model to induce cardiac hypertrophy and failure, as well as in ventricular ...
Gaku Oguri +8 more
wiley +1 more source
Andersen-Tawil syndrome (ATS), also known as long QT syndrome type 7, is a rare autosomal dominant disease caused by a KCNJ2 mutation. The characteristic triad of ATS is periodic paralysis, dysmorphic features, and ventricular arrhythmia.
Chizuko A. Kamiya +10 more
doaj +1 more source
Adequate post-ischemic reperfusion of the mouse brain requires endothelial NFAT5
Severity and outcome of strokes following cerebral hypoperfusion are significantly influenced by stress responses of the blood vessels. In this context, brain endothelial cells (BEC) regulate inflammation, angiogenesis and the vascular resistance to ...
Reiner Kunze +8 more
doaj +1 more source
Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients
Background Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a novel sequence variant (c.434A >
Stefanie Scheiper +5 more
doaj +1 more source
Effects of genetic loci associated with central obesity on adipocyte lipolysis [PDF]
Objectives: Numerous genetic loci have been associated with measures of central fat accumulation, such as waist-to-hip ratio adjusted for body mass index (WHRadjBMI).
Arner, Peter +7 more
core +4 more sources
Objective To investigate the signature genes of fatty acid metabolism and their association with immune cells in pulmonary arterial hypertension (PAH). Methods Fatty acid metabolism-related genes were obtained from the GeneCards database.
Xibang Liu +6 more
doaj +1 more source

