Results 51 to 60 of about 10,273 (224)

A Novel KCNH2 S981fs Mutation Identified by Whole-Exome Sequencing Is Associated with Type 2 Long QT Syndrome

International Journal of Molecular Sciences, 2023
KCNH2 loss-of-function mutations cause long QT syndrome type 2 (LQT2), an inherited cardiac disorder associated with life-threatening ventricular arrhythmia.
Yu-Wen Cheng, Chia-Tung Wu, Chi‐Jen Chang, Yung-Hsin Yeh, G. Chang, Hsin-Yi Tsai, L. Hsu   +6 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

Systems Pharmacology [PDF]

, 2008
The slides are from a presentation given by Professor Ravi Iyengar from Mount Sinai School of Medicine at the Drug Forum Meeting #9 that took place in Washington, DC on February 20-21, 2008.
Ravi Iyengar
core   +2 more sources

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, Xinghou Wang, Jiequan Liu, Xiaoyan Huang, Ying Wang, Shuaishuai Huang, Feiyan Mao, Jiangfang Lian   +9 more
semanticscholar   +1 more source

A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal BleedingNovel Teaching Points

CJC Open, 2021
A novel frameshift mutation in the KCNH2 gene for long QT syndrome type 2 (LQTS2) was identified after torsades des pointes ventricular tachycardia in a 49-year-old patient managed with octreotide and nadolol for an acute variceal bleed.
Wan Cheol Kim, MD, FRCPC, Edmond Lemire, MD, PhD, FRCPC, FCCMG, Siddarth Nosib, BSc, Shravankumar Nosib, MD, FRCPC   +3 more
doaj   +1 more source

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations

BMC Medical Genetics, 2008
Background KCNQ1 and KCNH2 are the two most common potassium channel genes causing long QT syndrome (LQTS), an inherited cardiac arrhythmia featured by QT prolongation and increased risks of developing torsade de pointes and sudden death.
Oberti Carlos, Redfearn Sharon, Bryant Randall M, Liu Mugen, Zhang Li, Chen Shenghan, Zhang Xianqin, Vincent G Michael, Wang Qing K   +8 more
doaj   +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

A rare KCNE1 polymorphism, D85N, as a genetic modifier of long QT syndrome

Journal of Arrhythmia, 2014
Background: The gene KCNE1 encodes the β-subunit of cardiac voltage-gated K+ channels and causes long QT syndrome (LQTS). LQTS is characterized by the prolongation of QT interval and lethal arrhythmias such as torsade de pointes (TdP).
Kanae Hasegawa, MD, Seiko Ohno, MD, PhD, Hideki Itoh, MD, PhD, Takeru Makiyama, MD, PhD, Takeshi Aiba, MD, PhD, Yasutaka Nakano, MD, PhD, Wataru Shimizu, MD, PhD, Hiroshi Matsuura, MD, PhD, Naomasa Makita, MD, PhD, Minoru Horie, MD, PhD   +9 more
doaj   +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

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