Results 21 to 30 of about 313 (129)

Discovery of Digenic Mutation, KCNH2 c.1898A >C and JUP c.916dupA, in a Chinese Family with Long QT Syndrome via Whole-Exome Sequencing

Cardiovascular Innovations and Applications, 2020
Long QT syndrome (LQTS), which is caused by an ion channel–related gene mutation, is a malignant heart disease with a clinical course of a high incidence of ventricular fibrillation and sudden cardiac death in the young. Mutations in KCNH2 (which encodes
Yafei Zhai, Jinxin Miao, Ying Peng, Guangming Fang, Chuchu Wang, Yaohe Wang, Xiaoyan Zhao, Jianzeng Dong   +7 more
doaj   +1 more source

A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity [PDF]

Clinical and Translational Medicine, 2021
AbstractBackground and aimsMutations in KCNH2 cause long or short QT syndromes (LQTS or SQTS) predisposing to life‐threatening arrhythmias. Over 1000 hERG variants have been described by clinicians, but most remain to be characterised. The objective is to standardise and accelerate the phenotyping process to contribute to clinician diagnosis and ...
Oliveira‐mendes, Barbara, Feliciangeli, Sylvain, Ménard, Mélissa, Chatelain, Frank, Alameh, Malak, Montnach, Jérôme, Nicolas, Sébastien, Ollivier, Béatrice, Barc, Julien, Baró, Isabelle, Schott, Jean-Jacques, Probst, Vincent, Kyndt, Florence, Denjoy, Isabelle, Lesage, Florian, Loussouarn, Gildas, de Waard, Michel   +16 more
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Quercetin is a foe in the heart by targeting the hERG potassium channel [PDF]

Iranian Journal of Basic Medical Sciences
Objective(s): Quercetin is a plant flavonoid known for its pharmacological activities, such as antioxidant, anti-inflammatory, and anti-cancer properties. However, there is limited information available regarding its potential toxicities.
Zihao Lu, Shuwen Li, Rui Wei, Wenwen Li, Yuqian Huang, Tingting Yang, Meng Yan   +6 more
doaj   +1 more source

High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KCNH2 : Deep mutational scan of KCNH2 trafficking [PDF]

, 2020
ABSTRACT Background KCHN2 encodes the K V 11.1 potassium channel responsible for I Kr , a major repolarization ...
Kozek, Krystian A., Glazer, Andrew M., Ng, Chai-Ann, Blackwell, Daniel, Egly, Christian L., Vanags, Loren R., Blair, Marcia, Mitchell, Devyn, Matreyek, Kenneth A., Fowler, Douglas M., Knollmann, Bjorn C., Vandenberg, Jamie, Roden, Dan M., Kroncke, Brett M.   +13 more
openaire   +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
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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
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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
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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
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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
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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