Results 1 to 10 of about 10,273 (224)

KCNH2‐L693P Causes Long QT Syndrome Type 2 Through hERG Channel Dysfunction: Functional Validation of a Variant of Uncertain Significance [PDF]

Molecular Genetics & Genomic Medicine
Background Congenital long QT syndrome (LQTS) is an inherited arrhythmia characterized by QT prolongation and increased risk of ventricular arrhythmias. Type 2 LQTS (LQT2) results from mutations in the KCNH2 gene encoding the hERG potassium channel. With
Xi‐Fan Zheng, Qiu Chen, Xiang‐Ting Lu, Hai‐Long Dai, Xue‐Feng Guang   +4 more
doaj   +6 more sources

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole‐exome sequencing

Journal of Arrhythmia, 2023
Background Long QT syndrome (LQTS) is a lethal cardiac condition. However, the clinical implementation of genetic testing has now made LQTS eminently treatable.
Amir Farjam Fazelifar, Maryam Pourirahim, Tannaz Masoumi, Alireza Biglari, Majid Maleki, Samira Kalayinia   +5 more
doaj   +3 more sources

Knock-in Kcnh2 rabbit model of long QT syndrome type-2, epilepsy, and sudden death [PDF]

Journal of Translational Medicine
Background Long QT Syndrome Type-2 (LQT2) is due to loss-of-function KCNH2 variants. KCNH2 encodes Kv11.1 that forms a delayed-rectifier potassium channel in the brain and heart.
Veronica Singh, Kyle T. Wagner, Laura G. Williams, Justin M. Ryan, Katherine R. Keller, Jonathan D. Mohnkern, Robert S. Gardner, Louis T. Dang, Julie M. Ziobro, Richard J. H. Wojcikiewicz, Nathan R. Tucker, David S. Auerbach   +11 more
doaj   +4 more sources

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

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   +3 more sources

Torsades de Pointes electrical storm in children with KCNH2 mutations. [PDF]

BMC Med 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)
Zhang L, Xu M, Yan Z, Han Y, Jiang X, Xiao T, Hou C, Li Y.   +7 more
europepmc   +3 more sources

Congenital long QT syndrome caused by a KCNH2 pathogenic variant exhibiting "motor seizures": a case report and literature review. [PDF]

BMC Pediatr
A retrospective analysis was conducted to evaluate the clinical characteristics, diagnostic challenges, and management strategies in a child with congenital long QT syndrome (cLQTS) caused by a KCNH2 gene pathogenic variant presenting as “motor seizures”.
Jin M, Yang F, Du Y, Zhao L, Zhao X, Liu J, Zhang J, Sun S.   +7 more
europepmc   +4 more sources

Establishment of human embryonic stem cell WAe009-A-88 carrying a long QT syndrome mutation in KCNH2

Stem Cell Research, 2022
Long-QT syndrome type 2 (LQT2) is a life-threatening Mendelian disease caused by genetic variants in KCNH2. Herein, we generated a human embryonic stem cell line (WAe009-A-88) carrying a LQT2 related mutation in KCNH2, c.1720 A>G.
Hong Wen, Lixiang Sun, Jiaqi Zhong, Fujian Wu   +3 more
doaj   +2 more sources

Integrated analysis of the voltage-gated potassium channel-associated gene KCNH2 across cancers

BMC Bioinformatics, 2023
KCNH2 encodes the human ether-a-go-go-related gene (hERG) potassium channel and is an important repolarization reserve for regulating cardiac electrical activity. Increasing evidence suggests that it is involved in the development of various tumours, yet
Zequn Zheng, Yongfei Song
doaj   +2 more sources

Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia [PDF]

Genes, 2022
Background: Cardiac autonomic dysfunction (CADF) is a major contributor to increased cardiac mortality in schizophrenia patients. The aberrant function of voltage-gated ion channels, which are widely distributed in the brain and heart, may link ...
Alexander Refisch, Shoko Komatsuzaki, Martin Ungelenk, Andy Schumann, Ha‐Yeun Chung, Susann S. Schilling, Wibke Jantzen, Sabine Schröder, Markus M. Nöthen, Thomas W. Mühleisen, Christian A. Hübner, Karl‐Jürgen Bär   +11 more
openalex   +2 more sources

Identification and Characterization of a Transcribed Distal Enhancer Involved in Cardiac Kcnh2 Regulation [PDF]

Cell Reports, 2019
Summary: The human ether-a-go-go-related gene KCNH2 encodes the voltage-gated potassium channel underlying IKr, a current critical for the repolarization phase of the cardiac action potential. Mutations in KCNH2 that cause a reduction of the repolarizing
Malou van den Boogaard, Jan Hendrik van Weerd, Amira C. Bawazeer, Ingeborg B. Hooijkaas, Harmen J.G. van de Werken, Federico Tessadori, Wouter de Laat, Phil Barnett, Jeroen Bakkers, Vincent M. Christoffels   +9 more
doaj   +2 more sources