Results 21 to 30 of about 10,273 (224)

The Novel Long QT Syndrome Type 2-associated F129I Mutation in the KCNH2 Gene Significantly Affects I Kr Through the hERG1 Homomeric and Heteromeric Potassium Channels

Cardiology Discovery
Objective: The long QT syndrome type 2 is caused by the loss-of-function mutations in the KCNH2 gene, which encodes hERG1, the voltage-gated potassium channel.
Li Feng, Kejuan Ma, Xin Li, Nian Liu, Deyong Long, Changsheng Ma   +5 more
openalex   +2 more sources

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   +2 more sources

Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing

BMC Medical Genomics
Background Long QT syndrome (LQTS) is a cardiac channelopathy characterized by impaired myocardial repolarization that predisposes to life-threatening arrhythmias.
Erfan Kohansal, Niloofar Naderi, Amir Farjam Fazelifar, Majid Maleki, Samira Kalayinia   +4 more
doaj   +2 more sources

Generation of KCNH2 heterozygous knockout induced pluripotent stem cell (iPSC) line (Long and Short QT Syndrome)

Stem Cell Research
KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member) encodes a voltage-activated potassium channel role as rapidly activating-delayed rectifier potassium channel that plays an essential role in the final repolarization of the ventricular action ...
Baiqiang Wang, Qian Ren, Xiaomeng Cui, Wei shan, Xiangge Guo, Xumeng Wang, Jiaxuan Wang, Yanting Li, Guipeng An   +8 more
doaj   +2 more sources

Delayed Repolarization Caused by hERG Block With Different Drug Modalities Can Be Detected in Stem Cell-Derived Cardiomyocytes: Incubation Time Matters. [PDF]

Clin Transl Sci
ABSTRACT The intrinsic characteristics of oligonucleotides pose a challenge for their assessment in conventional primary in vitro cardiac models, which were designed for the acute application of small molecule agents and are not suitable for transfection and extended culture periods.
Qu Y, Guo W, Wu B, Cui J, Gao B, Nichols JV, Vargas HM.   +6 more
europepmc   +2 more sources

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

American Journal of Human Genetics, 2022
Chai‐Ann Ng, Rizwan Ullah, Jessica Farr, Adam P. Hill, Krystian A. Kozek, Loren Vanags, Devyn Mitchell, Brett M. Kroncke, Jamie I. Vandenberg   +8 more
openalex   +3 more sources

KCNH2 regulates the growth and metastasis of pancreatic cancer

Journal of Pancreatology, 2023
Objective:. Due to the characteristics of insidious onset and early metastasis of pancreatic cancer (PC), patients are often diagnosed at an advanced stage and often delayed in completing surgical resection timely, resulting in poor prognosis. Therefore,
Jinghao Lei, Qiang Wang, Tengfei Qu, Lichao Cha, Hanxiang Zhan, Jianwei Xu, Shanglong Liu, Lantian Tian, Chuandong Sun, Jingyu Cao, Fabo Qiu, Weidong Guo, Bin Zhou   +12 more
doaj   +1 more source

Case Report: A novel KNCH2 variant-induced fetal heart block and the advantages of fetal genomic sequencing in prenatal long-term dexamethasone exposure

Frontiers in Genetics, 2022
Background: Fetal bradycardia is a common but severe condition. In addition to autoimmune-mediated fetal heart block, several types of channelopathies induce high-degree atrioventricular block (AVB).
Huiping Huang, Huiping Huang, Siyuan Jing, Shaoying Wu, Li Wei, Qian Zhang, Yimin Hua, Yifei Li, Haiyan Yu, Kaiyu Zhou   +9 more
doaj   +1 more source

Loss‐of‐function variants in Kv11.1 cardiac channels as a biomarker for SUDEP

Annals of Clinical and Translational Neurology, 2021
Objective To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls comprising patients older than 50 years, a group with low SUDEP risk, and establish loss‐of‐function KCNH2 variants as ...
Ming S. Soh, Richard D. Bagnall, Mark F. Bennett, Lauren E. Bleakley, Erlina S. Mohamed Syazwan, A. Marie Phillips, Mathew D. F. Chiam, Chaseley E. McKenzie, Michael Hildebrand, Douglas Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid   +14 more
doaj   +1 more source

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]

, 2020
Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun, Ackerman, Ackerman, Amendola, Bennett, Blekhman, Bombard, Campuzano, Chen, David, Denham, Dunn, Eilbeck, El Mecky, Harrison, Kobayashi, Lek, Macklin, Moreno, Priori, Richards, Richards, Semsarian, Smith, Tsai, Vears, Walsh, Wordsworth   +27 more
core   +1 more source