Associated Papers
KCNH2-L693P Causes Long QT Syndrome Type 2 Through hERG Channel Dysfunction: Functional Validation of a Variant of Uncertain Significance.
Zheng XF et al.
Molecular Genetics & Genomic Medicine, 2025
KCNH2A561V Heterozygous Mutation Inhibits KCNH2 Protein Expression via The Activation of UPR Mediated by ATF6.
Chen B et al.
Physiological Research, 2023
Pharmacological corrections of the mutant hERG channels by posaconazole.
Luo C et al.
Clinical and Experimental Pharmacology & Physiology, 2021
G604S-HERG mutation in LQT2 leads to autophagy via the UPR-related pathway.
Zhao Y et al.
Journal of Biosciences, 2020
Human ether‑à‑go‑go‑related gene mutation L539fs/47‑hERG leads to cell apoptosis through the endoplasmic reticulum stress pathway.
Ma S et al.
International Journal of Molecular Medicine, 2019
The role and mechanism of chaperones Calnexin/Calreticulin in which ALLN selectively rescues the trafficking defective of HERG-A561V mutation.
Wang Y et al.
Bioscience Reports, 2018
Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy.
Li G et al.
Molecular Medicine Reports, 2016
L539 fs/47, a truncated mutation of human ether-a-go-go-related gene (hERG), decreases hERG ion channel currents in HEK 293 cells.
Zhang A et al.
Clinical and Experimental Pharmacology & Physiology, 2013
[A novel mutation of the KCNH2 gene in a family with congenital long QT syndrome].
Lian J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2010
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