Results 61 to 70 of about 6,642 (199)

Establishment of a human-induced pluripotent stem cell line, KSCBi014-A, from a long QT syndrome type 2 patient harboring a KCNH2 mutation

Stem Cell Research, 2021
Long QT syndrome type 2 (LQT2) is a heart disorder caused by a loss-of-function mutation in the KCNH2 gene that is an essential factor in cardiac repolarization and affects the heart rate. This study has generated a human-induced stem cell line (KSCBi014-
Youngsun Lee, Soo Kyung Koo, Jung-Hyun Kim   +2 more
doaj   +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, Miguel Martín‐Aragón Baudel, Charlotte E. R. Smith, Gonzalo Hernandez Hernandez, Donald M. Bers, Patrick M. Boyle, Dobromir Dobrev, Shanna Hamilton, Osama F. Harraz, Na Li, Thomas A. Longden, William E. Louch, Madeline Nieves‐Cintron, Matthew A. Nystoriak, Walter Lee Murfee, Przemysław B. Radwański, Swapnil K. Sonkusare, Manuel F. Navedo, Eleonora Grandi   +18 more
wiley   +1 more source

Potassium voltage-gated channel subfamily H member 2 (KCNH2) is a promising target for incretin secretagogue therapies

Signal Transduction and Targeted Therapy
Derived from enteroendocrine cells (EECs), glucagon-like peptide-1 (GLP-1) and glucose-dependent insulinotropic peptide (GIP) are pivotal incretin hormones crucial for blood glucose regulation.
Ying-Chao Yuan, Hao Wang, Ze-Ju Jiang, Chang Liu, Qi Li, Si-Rui Zhou, Jin-Kui Yang   +6 more
doaj   +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, Amber V. Mills, Erin O'Neill, Sofian N. Obaid, Igor R. Efimov, Tatiana Efimova   +5 more
wiley   +1 more source

Distribution of KCNH2(1956,C>T)genotype and allele frequency in male and female patients.

, 2013
Distribution of KCNH2(1956,C>T)genotype and allele frequency in male and female patients.
Dingliang Zhu (126589), Yijing He (405065), Jinping Gao (405066), Wei Zhang (405), Sheng Deng (405067), Yuesheng Qian (325517), Lan Fan (405064), Xiaoping Chen (42085), Fazhong He (405061), Honghao Zhou (405068), Zhiying Luo (405063), Yan Wang (15435), Jianquan Luo (405062)   +12 more
core   +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, Caterina Miro, Annunziata Gaetana Cicatiello, Ilaria Piccialli, Serena Sagliocchi, Lucia Acampora, Federica Restolfer, Rosa Sirica, Melania Murolo, Emery Di Cicco, Daniela Terracciano, Anna Pannaccione, Monica Dentice   +12 more
wiley   +1 more source

Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-Throughput automated patch clamp electrophysiology [PDF]

, 2021
KCNH2 is one of the 59 medically actionable genes recommended by the American College of Medical Genetics for reporting of incidental findings from clinical genomic sequencing.
Young, P, Windley, MJ, Vandenberg, JI ; https://orcid.org/, Ng, CA ; https://orcid.org/, Hill, AP ; https://orcid.org/, Farr, J, Perry, MD ; https://orcid.org/, Paul Young, Adam P Hill, Jamie I Vandenberg, Chai-Ann Ng, Jessica Farr, Matthew D Perry, Monique J Windley   +13 more
core   +1 more source

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

Frontiers 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

Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation

Frontiers in Genetics, 2022
Background: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy, long QT syndrome (LQTS) is a rare ion channel disease, and simultaneous occurrence of both is even rarer.
Hairui Sun, Xiaowei Liu, Xiaoyan Hao, Xiaoxue Zhou, Jingyi Wang, Jiancheng Han, Mengmeng Liang, Hongjia Zhang, Yihua He   +8 more
doaj   +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, Kelly A. Aromolaran, Michael C. Sanguinetti, Ademuyiwa S. Aromolaran   +3 more
wiley   +1 more source