Results 171 to 180 of about 6,642 (199)

Gain‐of‐Function KCNH2 Mutations in Patients with Brugada Syndrome

Journal of Cardiovascular Electrophysiology, 2014
Novel KCNH2 Mutations in Brugada SyndromeBackgroundBrugada syndrome (BrS) is an inherited disease characterized by right precordial ST segment elevation on electrocardiograms (ECGs) that predisposes patients to sudden cardiac death as a result of polymorphic ventricular tachyarrhythmia or ventricular fibrillation (VF). In BrS patients, except for SCN5A,
Q I, Wang, Seiko, Ohno, Wei-Guang, Ding, Megumi, Fukuyama, Akashi, Miyamoto, Hideki, Itoh, Takeru, Makiyama, Jie, Wu, Jiayu, Bai, Kanae, Hasegawa, Tetsuji, Shinohara, Naohiko, Takahashi, Akihiko, Shimizu, Hiroshi, Matsuura, Minoru, Horie   +14 more
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Regulation of HERG (KCNH2) potassium channel surface expression by diacylglycerol

Cellular and Molecular Life Sciences, 2009
The HERG (KCNH2) channel is a voltage-sensitive potassium channel mainly expressed in cardiac tissue, but has also been identified in other tissues like neuronal and smooth muscle tissue, and in various tumours and tumour cell lines. The function of HERG has been extensively studied, but it is still not clear what mechanisms regulate the surface ...
Cia, Ramström, Hugh, Chapman, Tero, Viitanen, Emad, Afrasiabi, Heli, Fox, Johanna, Kivelä, Sanna, Soini, Laura, Korhonen, Dan, Lindholm, Michael, Pasternack, Kid, Törnquist   +10 more
openaire   +2 more sources

KCNH2 polymorphism and methadone dosage interact to enhance QT duration

Drug and Alcohol Dependence, 2014
Many drugs increase the duration of the QT interval of patients, potentially leading to harmful effects such as polymorphic ventricular arrhythmias. Most of these drugs do so by inhibiting the rapid component IKr of the delayed rectifier potassium current IK.
Aline, Hajj, Kamilia, Ksouda, Katell, Peoc'h, Emmanuel, Curis, Anne, Messali, Laurence Labat, Deveaux, Vanessa, Bloch, Nathalie, Prince, Stéphane, Mouly, Jean-Michel, Scherrmann, Jean-Pierre, Lépine, Jean-Louis, Laplanche, Milou-Daniel, Drici, Florence, Vorspan   +13 more
openaire   +2 more sources

A novel mutation in the KCNH2 gene associated with short QT syndrome

Journal of Molecular and Cellular Cardiology, 2011
A gain of function mutation N588K in the KCNH2 gene that encodes HERG channels has been shown to underlie the SQT1 form of short QT syndrome (SQTS). We describe a different mutation in the KCNH2 gene in a Chinese family with clinical evidence of SQTS. A Chinese family with a markedly short QT interval (QTc=316 ± 9 ms, n=4) and a strong family history ...
Yaxun, Sun, Xiao-Qing, Quan, Samantha, Fromme, Robert H, Cox, Ping, Zhang, Li, Zhang, Donglin, Guo, Jihong, Guo, Chinmay, Patel, Peter R, Kowey, Gan-Xin, Yan   +10 more
openaire   +2 more sources

Decoding KCNH2 variants of unknown significance

Heart Rhythm, 2020
Carlos G, Vanoye, Alfred L, George
openaire   +2 more sources

Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels

American Journal of Physiology-Heart and Circulatory Physiology, 2004
Long QT syndrome (LQTS) is a cardiac repolarization disorder that can lead to arrhythmias and sudden death. Chromosome 7-linked inherited LQTS (LQT2) is caused by mutations in human ether-a-go-go-related gene ( HERG; KCNH2), whereas drug-induced LQTS is caused primarily by HERG channel block.
Blake D, Anson, Michael J, Ackerman, David J, Tester, Melissa L, Will, Brian P, Delisle, Corey L, Anderson, Craig T, January   +6 more
openaire   +2 more sources

Dissecting the associations of KCNH2 genetic polymorphisms with various types of cardiac arrhythmias

Gene
Cardiac arrhythmia, a common cardiovascular disease, is closely related to genetic polymorphisms. However, the associations between polymorphisms in KCNH2 and various arrhythmias remain inadequately explored.Guided by the assumption that KCNH2 genetic polymorphisms significantly contribute to the development of arrhythmias, we thoroughly explored the ...
Sen Li, Zhang Zhang, Yining Ding, Tingting Yu, Zongshi Qin, Shuzhen Guo   +5 more
openaire   +2 more sources

Kcnh2 mediates FAK/AKT-FOXO3A pathway to attenuate sepsis-induced cardiac dysfunction

Cell Proliferation, 2021
Zhi-Gang Li, Huan Liu, Luying Peng
exaly  

KCNH2 variants in a family with epilepsy and long QT syndrome: A case report and literature review

Epileptic Disorders, 2023
Josemir W. Sander, Wei-Xi Xiong, Dong Zhou   +2 more
exaly  

KCNH2 encodes a nuclear-targeted polypeptide that mediates hERG1 channel gating and expression

Proceedings of the National Academy of Sciences of the United States of America, 2023
Eric N Jimenez-Vazquez, Francisco G Sánchez-Conde, David K. Jones   +2 more
exaly