Results 41 to 50 of about 6,848 (166)

Mechanisms of fever-induced QT prolongation and torsades de pointes in patients with KCNH2 mutation

Europace, 2023
Aims Patients with particular mutations of type-2 long QT syndrome (LQT2) are at an increased risk for malignant arrhythmia during fever. This study aimed to determine the mechanism by which KCNH2 mutations cause fever-induced QT prolongation and ...
K. Usuda, K. Hayashi, T. Nakajima, Y. Kurata, S. Cui, T. Kusayama, T. Tsuda, H. Tada, Takeshi Kato, K. Sakata, S. Usui, N. Fujino, Yoshihiro Tanaka, Y. Kaneko, M. Kurabayashi, S. Tange, Takekatsu Saito, K. Ohta, M. Yamagishi, M. Takamura   +19 more
semanticscholar   +1 more source

Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel

Orphanet Journal of Rare Diseases, 2022
Background Brugada syndrome (Brs) and long QT syndrome (LQTs) are the most observed “inherited primary arrhythmia syndromes” and “channelopathies”, which lead to sudden cardiac death.
Jia Chen, Hong Li, Sicheng Guo, Zhe Yang, Shaoping Sun, JunJie Zeng, Hongjuan Gou, Yechang Chen, Feng Wang, Yanping Lin, Kun Huang, Hong Yue, Yuting Ma, Yubi Lin   +13 more
doaj   +1 more source

KCNH2A561V Heterozygous Mutation Inhibits KCNH2 Protein Expression via The Activation of UPR Mediated by ATF6.

Physiological Research, 2023
The potassium channel protein KCNH2 is encoded by KCNH2 gene, and there are more than 300 mutations of KCNH2. Unfolded protein response (UPR) is typically initiated in response to an accumulation of unfolded and/or misfolded proteins in the endoplasmic ...
Bangsheng Chen, Lian Tan, Danqi Chen, Xing Wang, Jiequan Liu, Xiaoyan Huang, Ying Wang, Shuaishuai Huang, Feiyan Mao, Jiangfang Lian   +9 more
semanticscholar   +1 more source

Human induced pluripotent stem cell line ZZUNEUi027-A generated from a long QT syndrome patient with a heterozygous KCNH2 (c. 128 A > G) mutant

Stem Cell Research, 2022
Long QT syndrome is one of the most common hereditary arrhythmias. Mutations in KCNH2 can cause long QT syndrome type 2 (LQT2). In this study, we generated a human induced pluripotent stem cell line ZZUNEUi027-A from a LQT2 female patient with c.
Jiangtao Zhao, Lu Wang, Kui Zhu, Xiaowei Chen, Fen Qin, Xiaowei Li, Jianzeng Dong, Hailong Tao   +7 more
doaj   +1 more source

KCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences

Clinics, 2023
Highlights • A mutation reported in this article appeared to be a definite pathogenic mutation of LQT2.• This mutation exhibit gender differences in clinical symptoms and T-wave morphology.• The female proband with this mutation showed a positive ...
Zunping Ke, Chao Li, Gang Bai, Li-Guo Tan, Junfeng Wang, Min Zhou, Jianhua Zhou, Shiyou Chen, Xiao-wu Dong   +8 more
semanticscholar   +1 more source

Generation of induced pluripotent stem cells (iPSCs) from a Chinese infant (XACHi015-A) with type 2 Long QT syndrome carrying the heterozygous mutation c.1814C>T(p.P605L) in KCNH2

Stem Cell Research, 2021
Induced pluripotent stem cell lines (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a ten years old boy with the type 2 Long QT syndrome carrying the heterozygous mutation c.1814C>T(p.P605L) in
Tao Wang, Yafei Zhou, Rui Zhou, Wenjun Huang, Jie Wang, Huan Li, Ming Lei, Xiaoqiu Tan, Yanmin Zhang   +8 more
doaj   +1 more source

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

American Journal of Human Genetics, 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 ...
C. Ng, R. Ullah, Jessica Farr, A. Hill, Krystian Kozek, Loren Vanags, Devyn W. Mitchell, B. Kroncke, J. Vandenberg   +8 more
semanticscholar   +1 more source

Suppression and Replacement Gene Therapy for KCNH2-Mediated Arrhythmias

Circulation Genomic and Precision Medicine, 2022
Background: KCNH2-mediated arrhythmia syndromes are caused by loss-of-function (type 2 long QT syndrome [LQT2]) or gain-of-function (type 1 short QT syndrome [SQT1]) pathogenic variants in the KCNH2-encoded Kv11.1 potassium channel, which is essential ...
S. Bains, Wei Zhou, Steven M. Dotzler, Katherine H. Martinez, CS John Kim, D. Tester, D. Ye, M. Ackerman   +7 more
semanticscholar   +1 more source

Digenic heterozygous mutations of KCNH2 and SCN5A induced young and early‐onset long QT syndrome and sinoatrial node dysfunction

Annals of Noninvasive Electrocardiology, 2022
Introduction Long QT syndrome (LQTS) is a life‐threatening inherited channelopathy, and prolonged QT intervals easily trigger malignant arrhythmias, especially torsades de pointes and ventricular fibrillation.
Zhe Yang, Yuting Ma, Jiana Huang, Jianzhong Xian, Yin Huang, Linbo Wu, WenLiang Zhu, Feng Wang, Liang Chen, Xiufang Lin, Yubi Lin   +10 more
doaj   +1 more source

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