Results 151 to 160 of about 9,233 (239)

Non-missense variants ofKCNH2show better outcomes in type 2 long QT syndrome [PDF]

, 2023
Takanori Aizawa, Yuko Wada, Kanae Hasegawa, Hai Huang, Tomohiko Imamura, Jingshan Gao, Asami Kashiwa, Hirohiko Kohjitani, Megumi Fukuyama, Koichi Kato, Eri Kato, Takashi Hisamatsu, Seiko Ohno, Takeru Makiyama, Takeshi Kimura, Minoru Horie   +15 more
openalex   +1 more source

972Novel intracellular transport-refractory mutations in KCNH2 identified in symptomatic long QT syndrome patients [PDF]

, 2017
Daisuke Fukumoto, Seiko Ohno, Yuko Wada, Yusuke Fujii, Mari Ichikawa, Koichiro Takayama, Megumi Fukuyama, Takeru Makiyama, Ito H, Wei-Guang Ding, Hiroyuki Matsuura, Minoru Horie   +11 more
openalex   +1 more source

Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiology [PDF]

, 2021
Chai‐Ann Ng, Jessica Farr, Paul Young, Monique J. Windley, Matthew Perry, Adam P. Hill, Jamie I. Vandenberg   +6 more
openalex   +1 more source

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

Eur Heart J
Nimani S, Bains S, Alerni N, Ördög B, Horváth A, Matas L, Louradour J, Giammarino L, Tester DJ, Beslac O, Lopez R, Meier S, Egle M, Christoforou N, Barbieri M, Vashanthakumar V, Perez-Feliz S, Parodi C, Garcia Casalta LG, Kim CSJ, Zhou W, Ye D, Jurgensen J, Barry MA, Bego M, Keyes L, Owens J, Pinkstaff J, Christoph J, Zehender M, Brunner M, Heijman J, Casoni D, Praz F, Haeberlin A, Brooks G, Ackerman MJ, Odening KE.   +37 more
europepmc   +1 more source

Alleviating Effects of Long-QT Syndrome Type 2 by Allele-Specific Inhibition of the KCNH2 Mutant Allele

, 2022
Ronald Wilders
openalex   +1 more source

Blocking SUDEP With a Beta Blocker: Atenolol Reduces Seizure-Related Mortality. [PDF]

Epilepsy Curr
Buchanan GF.
europepmc   +1 more source

New Insights Into the Genetic Basis of Inherited Arrhythmia Syndromes. [PDF]

, 2016
Behr, ER, Gray, B
core   +1 more source

Long QT interval syndrome type 2 caused by a new missense mutation of KCNH2 gene: A case report. [PDF]

Medicine (Baltimore)
Ma Y, Wang L, Wu S, Peng C.
europepmc   +1 more source

Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome [PDF]

, 2005
Arie O. Verkerk, Ronald Wilders, Eric Schulze‐Bahr, Leander Beekman, Zahir A. Bhuiyan, Julien Bertrand, Lars Eckardt, Dongxin Lin, Martin Borggrefe, G. Breithardt   +9 more
openalex   +1 more source

Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing [PDF]

Erfan Kohansal, Niloofar Naderi, Amir Farjam Fazelifar, Majid Maleki, Samira Kalayinia   +4 more
openalex   +1 more source