Results 111 to 118 of about 3,632 (118)

Case report: A Chinese child with Andersen–Tawil syndrome due to a de novo KCNJ2 mutation

Journal of the Neurological Sciences, 2015
Jun-Yi Shen, Tian Wang, Sheng-Di Chen
exaly  

Andersen mutations of KCNJ2 suppress the native inward rectifier current in a dominant-negative fashion

Cardiovascular Research, 2003
Fikret Er, Natig Gassanov, Hoppe Uta C
exaly  

Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome

Journal of Molecular and Cellular Cardiology, 2003
, Takashi Washizuka, Haruo Hanawa
exaly  

Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome

Journal of the Neurological Sciences, 2019
Yasushi Okamura, Shinobu Fukumura, Akira Kawanabe   +2 more
exaly  

A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1

Frontiers in Cellular Neuroscience, 2018
Massimiliano Beghi, Anna Binda, Elisa Chisci   +2 more
exaly  

Mutations of KCNJ2 gene associated with Andersen–Tawil syndrome in Korean families

Journal of Human Genetics, 2007
Byung-Ok Choi, Song Ja Kim, GWANG Hoon Kim   +2 more
exaly  

KCNJ2 mutation causes an adrenergic-dependent rectification abnormality with calcium sensitivity and ventricular arrhythmia

Heart Rhythm, 2014
Lee Eckhardt, Ravi Vaidyanathan, Craig T January   +2 more
exaly  

Upregulation of the inwardly rectifying potassium channel Kir2.1 (KCNJ2) modulates multidrug resistance of small-cell lung cancer under the regulation of miR-7 and the Ras/MAPK pathway

Molecular Cancer, 2015
Juan Peng, Linlang Guo, Zhu Weiliang
exaly