Results 51 to 60 of about 2,693,618 (154)
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1
Frontiers in Physiology, 2023 hERG, the pore-forming subunit of the rapid component of the delayed rectifier K+ current, plays a key role in ventricular repolarization. Mutations in the KCNH2 gene encoding hERG are associated with several cardiac rhythmic disorders, mainly the Long ...
Malak Alameh +10 more
doaj +1 more source
Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription [PDF]
Molecular Genetics & Genomic Medicine, 2019 AbstractBackgroundThe deletion of the distal 7q region is a rare chromosomal syndrome characterized by wide phenotypic manifestations including growth and psychomotor delay, facial dysmorphisms, and genitourinary malformations.MethodsWe describe a 6‐year‐old child with a 12‐Mb deletion of the region 7q35q36.3.ResultsAmong the deleted genes, two genes ...
Giuseppe Di Stolfo +10 more
openaire +3 more sources
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients
International Heart Journal, 2015 Long QT syndrome (LQTS) is a genetic cardiac disease. Gene mutation affects the structure or function of ion channels that are associated with a high risk of sudden death. The goal of this study was to determine the frequency of KCNQ1, KCNH2, and SCN5A mutations in LQTS in a Taiwanese population.
Chang, Ya-Sian +5 more
openaire +3 more sources
, 2015 Molecular cloning and functional expression of the equine K+ channel KV11.1 (ether à go-go-related/KCNH2 gene) and the regulatory subunit KCNE2 from equine ...
Kirstine Calloe (790540)
core +1 more source
Translating cardiovascular ion channel and Ca2+ signalling mechanisms into therapeutic insights
The Journal of Physiology, EarlyView.Abstract figure legend This white paper integrates mechanistic discoveries across ion channel biology, Ca2+ signalling and multiscale cardiovascular physiology to highlight new opportunities for accelerating research and guiding next‐generation therapies. Printed with permission from ®Anita Impagliazzo Medical Illustration. [Correction added on 2 March
Silvia Marchianò +18 more
wiley +1 more source
Age‐ and sex‐specific modulation of human cardiac electrophysiology by doxorubicin
The Journal of Physiology, EarlyView.Abstract figure legend DOX differentially impacts cardiac electrophysiology based on sex and age. Sex differences were primarily observed among younger hearts, where action potential duration (APD) prolongation was observed in females, but not in males. Created using BioRender. George, S. (2026) https://BioRender.com/wresf1k Abstract Acute doxorubicin (
Sharon A. George +5 more
wiley +1 more source
Voltage‐gated potassium channels mediate thyroid hormone control of skeletal muscle excitability
The Journal of Physiology, EarlyView.Abstract figure legend Thyroid hormone (TH)‐dependent remodelling of potassium (K+) channel networks regulates skeletal muscle (SkM) excitability. Triiodothyronine (T3), locally generated from thyroxine (T4) by type 2 deiodinase (D2), binds thyroid hormone receptors (TRα/β) and modulates transcription via thyroid response elements (TREs).
Annarita Nappi +12 more
wiley +1 more source
hERG1 channels and potential therapeutics for long QT syndrome
The Journal of Physiology, EarlyView.Abstract figure legend Prolonged QT results from hERG1 channel dysfunction. (A) Physiological anterograde trafficking of hERG1 channels to the plasma membrane, leading to a normal electrocardiogram. (B) Prolonged QT results from the presence of fewer hERG1 channels on the plasma membrane due to decreased anterograde trafficking or reduced function due ...
Elizabeth H. Schneider +3 more
wiley +1 more source
Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome [PDF]
Cardiovascular Research, 2005 Brugada syndrome (BrS) is an inherited electrical disorder associated with a high incidence of sudden death. In a minority of patients, it has been linked to mutations in SCN5A, the gene encoding the pore-forming alpha-subunit of the cardiac Na(+) channel. Other causally related genes still await identification.
Verkerk, Arie O. +13 more
openaire +3 more sources