Results 41 to 50 of about 6,642 (199)

Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode

Frontiers in Genetics
BackgroundLong QT syndrome (LQTS) is an inherited malignant arrhythmia syndrome that poses a risk of sudden death. Variants in the Potassium Voltage-Gated Channel Subfamily H Member 2 (KCNH2) gene are known to cause Long QT syndrome through an autosomal ...
Peng Chen, Peng Chen, Zainul Zampawala, Hong Wang, Luyun Wang   +4 more
doaj   +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

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

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

Hydroxymethylation of microRNA-365-3p Regulates Nociceptive Behaviors via Kcnh2 [PDF]

The Journal of Neuroscience, 2016
DNA 5-hydroxylmethylcytosine (5hmC) catalyzed by ten-eleven translocation methylcytosine dioxygenase (TET) occurs abundantly in neurons of mammals. However, thein vivocausal link between TET dysregulation and nociceptive modulation has not been established.
Zhiqiang, Pan, Ming, Zhang, Tao, Ma, Zhou-Ya, Xue, Guo-Fang, Li, Ling-Yun, Hao, Li-Jiao, Zhu, Yan-Qiang, Li, Hai-Lei, Ding, Jun-Li, Cao   +9 more
openaire   +2 more sources

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

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

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

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   +1 more source

Circulating KCNH2 current-activating factor in patients with heart failure and ventricular tachyarrhythmia. [PDF]

PLoS ONE, 2011
It is estimated that approximately half of the deaths in patients with HF are sudden and that the most likely causes of sudden death are lethal ventricular tachyarrhythmias such as ventricular tachycardia (VT) or fibrillation (VF).
Hiroki Sugiyama, Kazufumi Nakamura, Hiroshi Morita, Satoshi Akagi, Yoshinori Tani, Yusuke Katayama, Nobuhiro Nishii, Toru Miyoshi, Satoshi Nagase, Kunihisa Kohno, Kengo Fukushima Kusano, Tohru Ohe, Junko Kurokawa, Tetsushi Furukawa, Hiroshi Ito   +14 more
doaj   +1 more source

Microbial metabolite indole‐3‐propionic acid preserves astrocytic mitochondrial mitofusin 2 to limit neuroinflammation after traumatic brain injury

Interdisciplinary Medicine, EarlyView.
Following traumatic brain injury, indole‐3‐propionic acid (IPA) directly targets the aryl hydrocarbon receptor on astrocytes in the peri‐lesional cortex; this suppresses interferon regulatory factor 1‐driven transcription of the E3 ubiquitin ligase RFFL (ring finger and FYVE‐like domain containing E3 ubiquitin protein ligase).
Ziwen Zhang, Kai Wang, Liangbo Wang, Wencong Li, Hao Guo, Meng Xu, Tinghao Wang, Jiahui Ren, Ting Zhu, Jiahui Wang, Wenxing Cui, Jinpeng Zhou, Yang Tian, Liying Han, Chengxuan Guo, Shuoyao Ma, Qiang Wang, Zhihong Li, Yaning Cai, Jingyu Dong, Xun Wu, Haixiao Liu, Yan Qu   +22 more
wiley   +1 more source