Results 61 to 70 of about 6,848 (166)

Computational analysis of arrhythmogenesis in KCNH2 T618I mutation-associated short QT syndrome and the pharmacological effects of quinidine and sotalol

open access: yesnpj Systems Biology and Applications, 2022
Short QT syndrome (SQTS) is a rare but dangerous genetic disease. In this research, we conducted a comprehensive in silico investigation into the arrhythmogenesis in KCNH2 T618I-associated SQTS using a multi-scale human ventricle model.
Shugang Zhang   +7 more
semanticscholar   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

open access: yesThe 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

Translating cardiovascular ion channel and Ca2+ signalling mechanisms into therapeutic insights

open access: yesThe 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

open access: yesThe 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

Erg currents support electrical bursting in murine anterior pituitary corticotrophs

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Anterior pituitary corticotrophs are a central component of the hypothalamic‐pituitary‐adrenal (HPA) axis that controls the release of glucocorticoids from the adrenal gland in response to stress. The hypothalamic secretagogue corticotrophin releasing hormone (CRH) promotes electrical bursting of mouse anterior pituitary ...
Sooraj V. Nair   +5 more
wiley   +1 more source

Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report

open access: yesFrontiers in Pediatrics, 2022
Background Left ventricular non-compaction (LVNC) is an abnormality of the myocardium, characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses.
T. Caiffa   +11 more
semanticscholar   +1 more source

Tetrandrine, a Major Alkaloid From Stephaniae Tetrandrae Radix, Ameliorates Non‐Alcoholic Fatty Liver Disease in Zebrafish via the PI3K/AKT/STAT3 Pathway

open access: yesFood Science &Nutrition, Volume 14, Issue 5, May 2026.
Tet regulates lipid metabolism and cell apoptosis to alleviate NAFLD. Integrated network pharmacology, Mendelian randomization, and experimental validation demonstrate that Tet activates the PI3K/AKT/STAT3 signaling axis, suppresses apoptosis, reduces hepatic lipid accumulation, and improves biochemical liver injury markers, supporting its potential as
Peng Sun   +11 more
wiley   +1 more source

Silencing the Mutant KCNH2 Allele to Reduce the Effects of Long QT Syndrome Type 2

open access: yesFrontiers in Bioscience-Landmark
Background: Long-QT syndrome type 2 (LQTS2), which is associated with life-threatening cardiac arrhythmias, is caused by pathogenic heterozygous loss-of-function mutations in the KCNH2 gene.
Ronald Wilders
doaj   +1 more source

Generation of a human embryonic stem cell line (WAe009-A-43) carrying a Long QT syndrome related mutation in KCNH2 gene

open access: yesStem Cell Research, 2020
The hereditary Long QT syndrome (LQTS) is a life-threaten channelopathy of the heart characterized by prolonged QT intervals and predisposition to occur polymorphic ventricular tachyarrhythmias.
Xiaodan Wu, Yitong Zhao, Xiantao Wang
doaj   +1 more source

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

open access: yesbioRxiv, 2022
Background Variants in KCNH2, encoding the hERG channel which is responsible for the rapid component of the cardiac delayed rectifier K+ current (IKr), are causal to Long QT Syndrome type 2 (LQTS2).
J. Copier   +17 more
semanticscholar   +1 more source

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