Results 81 to 90 of about 6,642 (199)

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

Stem 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

Optimization of novel compounds using computer‐aided drug design for treatment of cardiac arrhythmia

British Journal of Pharmacology, Volume 183, Issue 17, Page 5407-5420, September 2026.
Background and Purpose Loss‐of‐function mutations of the voltage‐gated Kv7.1 (KCNQ/KCNE1) channels lead to cardiac arrhythmia such as long QT syndrome, characterized by a prolonged QT interval . One strategy to correct the prolonged QT interval is to design molecules that activate KCNQ1/KCNE1 channels and restore the QT interval.
Jessica Jowais, Laura M. Castro‐Gonzalez, Alessia Golluscio, D. Peter Tieleman, H. Peter Larsson   +4 more
wiley   +1 more source

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, Volume 293, Issue 18, Page 5481-5513, September 2026.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source

Kcnh2 Expression Profile and Continuous EEG/ECG Monitoring in a Rabbit Model of Long QT Syndrome Type 2

, 2023
Long QT Syndrome (LQTS) is a classically studied cardiac condition characterized by a prolonged ventricular excitation-repolarization interval (QT interval) on an electrocardiogram (ECG).
Williams, Laura
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Presentation_1_The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2.pdf

, 2021
While rare mutations in ion channel genes are primarily responsible for inherited cardiac arrhythmias, common genetic variants are also an important contributor to the clinical heterogeneity observed among mutation carriers.
Albert Blanch-Asensio (11843780), Mervyn P. H. Mol (11843783), Richard P. Davis (11843786), Arie O. Verkerk (7342880), Lettine van den Brink (11843774), Karina O. Brandão (11843777), Loukia Yiangou (3159963), Christine L. Mummery (206109)   +7 more
core   +1 more source

A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6

Case Reports in Medicine, 2019
We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 (KCNH2 gene) and type 6 (KCNE2 gene).
Annejet Heida, Lisette J. M. E. van der Does, Ahmed A. Y. Ragab, Natasja M. S. de Groot   +3 more
doaj   +1 more source

A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2

, 2022
Many genes, including KCNH2, contain “hotspot” domains associated with a high density of variants associated with disease. This has led to the suggestion that variant location can be used as evidence supporting classification of clinical variants ...
Vanags, LR, Ng, CA, Kroncke, BM, Mitchell, DW, Ullah, R, Vandenberg, JI ; https://orcid.org/, Hill, AP ; https://orcid.org/, Farr, J, Kozek, KA, Loren R. Vanags, Rizwan Ullah, Chai-Ann Ng, Devyn W. Mitchell, Krystian A. Kozek, Jessica Farr, Adam P. Hill, Jamie I. Vandenberg, Brett M. Kroncke   +17 more
core   +1 more source

Long QT Syndrome Type 2: Emerging Strategies for Correcting Class 2 KCNH2 (hERG) Mutations and Identifying New Patients

Biomolecules, 2020
Significant advances in our understanding of the molecular mechanisms that cause congenital long QT syndrome (LQTS) have been made. A wide variety of experimental approaches, including heterologous expression of mutant ion channel proteins and the use of
Makoto Ono, Don E. Burgess, Elizabeth A. Schroder, Claude S. Elayi, Corey L. Anderson, Craig T. January, Bin Sun, Kalyan Immadisetty, Peter M. Kekenes-Huskey, Brian P. Delisle   +9 more
doaj   +1 more source

Torsades de Pointes electrical storm in children with KCNH2 mutations

BMC Medical Genomics
Congenital long QT syndrome (LQTS) is a genetic heart disorder, which may lead to life-threatening arrhythmias, especially in children. Here, we reported two children who were initially misdiagnosed with epilepsy and experienced Torsades de Pointes (TdP) cardiac electrical storm (ES).
Li Zhang, Meng Xu, Zhen Yan, Yan Han, Xunwei Jiang, Tingting Xiao, Cuilan Hou, Yun Li   +7 more
openaire   +3 more sources

Elektrophysiologische und pharmakologische Charakterisierung von KCNQ1-modulierten KCNH2-Ionenströmen

, 2011
Vorarbeiten hatten eine Interaktion zwischen KCNQ1 und KCNH2 gezeigt. Die vorliegende Arbeit zielte darauf, den Mechanismus der Interaktion mittels elektrophysiologischer und pharmakologischer Methoden zu ermitteln.
Rüdiger, André
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