Results 221 to 224 of about 10,273 (224)

AAV9-mediated KCNH2 suppression-replacement gene therapy in a transgenic rabbit model of type 1 short QT syndrome.

European Heart Journal
BACKGROUND AND AIMS Type 1 short QT syndrome (SQT1) is a genetic channelopathy caused by gain-of-function variants in KCNH2. This shortens cardiac repolarization and QT intervals, predisposing patients to ventricular arrhythmias and sudden cardiac death.
S. Nimani, S. Bains, N. Alerni, Balázs Ördög, A. Horváth, Lluís Matas, J. Louradour, Lucilla Giammarino, D. Tester, O. Beslac, Ruben Lopez, Stefan Meier, M. Egle, Nicolas Christoforou, Miriam Barbieri, Varjany Vashanthakumar, S. Perez-Feliz, C. Parodi, Luisana G. Garcia Casalta, C. S. J. Kim, Wei Zhou, D. Ye, J. Jurgensen, Michael A. Barry, Mariana Bego, Lisa Keyes, Jane Owens, Jason Pinkstaff, Jan Christoph, M. Zehender, Michael Brunner, Jordi Heijman, D. Casoni, F. Praz, A. Haeberlin, G. Brooks, M. J. Ackerman, K. Odening   +37 more
semanticscholar   +1 more source

[Clinical and genetic analysis of a Chinese pedigree affected with type 2 Long QT syndrome due to variant of KCNH2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Haitao Yang, Meng Sun, Jingjing Liu, Xiaosheng Chen, Xizheng Xu, Juan Hu, Lijie Yan, Jintao Wu   +7 more
semanticscholar   +1 more source

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

Gene
Sen Li, Zhang Zhang, Yining Ding, Tingting Yu, Zongshi Qin, Shuzhen Guo   +5 more
semanticscholar   +1 more source

Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome

Neurogenetics
K. Margiotti, M. Fabiani, Costanza Zangheri, Antonella Cima, Francesca Monaco, F. Libotte, Chiara Ali', M. A. Barone, Antonella Viola, A. Mesoraca, Claudio Giorlandino   +10 more
semanticscholar   +1 more source