ArticleCirculation research2008
Homozygous missense N629D hERG (KCNH2) potassium channel mutation causes developmental defects in the right ventricle and its outflow tract and embryonic lethality.
Article in Circulation research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 55 citations in OpenAlex.
- Knock-in Kcnh2 rabbit model of long QT syndrome type-2, epilepsy, and sudden death.Journal of translational medicine · 2025Article
- Levels of Small Extracellular Vesicles Containing hERG-1 and Hsp47 as Potential Biomarkers for Cardiovascular Diseases.International journal of molecular sciences · 2024Article
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- Ion Channels and Transporters in Muscle Cell Differentiation.International journal of molecular sciences · 2021Review
- A Meta-Analysis of Bioelectric Data in Cancer, Embryogenesis, and Regeneration.Bioelectricity · 2021Article
- Kcnh2 mediates FAK/AKT-FOXO3A pathway to attenuate sepsis-induced cardiac dysfunction.Cell proliferation · 2021Article
- Selectivity filter modalities and rapid inactivation of the hERG1 channel.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Human ether‑à‑go‑go‑related gene mutation L539fs/47‑hERG leads to cell apoptosis through the endoplasmic reticulum stress pathway.International journal of molecular medicine · 2019Article
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- Planarian regeneration as a model of anatomical homeostasis: Recent progress in biophysical and computational approaches.Seminars in cell & developmental biology · 2019Review
- Modulation of Ether-à-Go-Go Related Gene (ERG) Current Governs Intrinsic Persistent Activity in Rodent Neocortical Pyramidal Cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Age-dependent electrical and morphological remodeling of the Drosophila heart caused by hERG/seizure mutations.PLoS genetics · 2017Article
- hERG1 potassium channel in cancer cells: a tool to reprogram immortality.European biophysics journal : EBJ · 2016Review
- Rhythm genes sing more than one tune: noncanonical functions of cardiac ion channels.Circulation. Arrhythmia and electrophysiology · 2015Article
- Molecular bioelectricity: how endogenous voltage potentials control cell behavior and instruct pattern regulation in vivo.Molecular biology of the cell · 2014Article
- Electrophysiologic substrate in congenital Long QT syndrome: noninvasive mapping with electrocardiographic imaging (ECGI).Circulation · 2014Article
- Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation.PloS one · 2014Article
- Endogenous voltage gradients as mediators of cell-cell communication: strategies for investigating bioelectrical signals during pattern formation.Cell and tissue research · 2013Review
- hERG channel function: beyond long QT.Acta pharmacologica Sinica · 2013Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Loss-of-function mutations in the human ERG1 potassium channel (hERG1) frequently underlie the long QT2 (LQT2) syndrome. The role of the ERG potassium channel in cardiac development was elaborated in an in vivo model of a homozygous, loss-of-function LQT2 syndrome mutation. The hERG N629D mutation was introduced into the orthologous mouse gene, mERG, by homologous recombination in mouse embryonic stem cells. Intact homozygous embryos showed abrupt cessation of the heart beat. N629D/N629D embryos die in utero by embryonic day 11.5. Their developmental defects include altered looping architecture, poorly developed bulbus cordis, and distorted aortic sac and branchial arches. N629D/N629D myocytes from embryonic day 9.5 embryos manifested complete loss of I(Kr) function, depolarized resting potential, prolonged action potential duration (LQT), failure to repolarize, and propensity to oscillatory arrhythmias. N629D/N629D myocytes manifest calcium oscillations and increased sarcoplasmic reticulum Ca(+2) content. Although the N629D/N629D protein is synthesized, it is mainly located intracellularly, whereas +/+ mERG protein is mainly in plasmalemma. N629D/N629D embryos show robust apoptosis in craniofacial regions, particularly in the first branchial arch and, to a lesser extent, in the cardiac outflow tract. Because deletion of Hand2 produces apoptosis, in similar regions and with a similar final developmental phenotype, Hand2 expression was evaluated. Robust decrease in Hand2 expression was observed in the secondary heart field in N629D/N629D embryos. In conclusion, loss of I(Kr) function in N629D/N629D cardiovascular system leads to defects in cardiac ontogeny in the first branchial arch, outflow tract, and the right ventricle.
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