Results 11 to 20 of about 313 (129)

Targeting potassium channels and autophagy to defeat chemoresistance

Molecular & Cellular Oncology, 2020
Both autophagy and hERG1 potassium channels have been shown to promote tumor progression and resistance to treatment. Our findings indicate that the antibiotic clarithromycin can target hERG1 and modulate autophagy to promote the death of chemoresistant ...
Giulia Petroni
doaj   +1 more source

The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2

Frontiers in Physiology, 2021
While rare mutations in ion channel genes are primarily responsible for inherited cardiac arrhythmias, common genetic variants are also an important contributor to the clinical heterogeneity observed among mutation carriers.
Lettine van den Brink, Karina O. Brandão, Loukia Yiangou, Albert Blanch-Asensio, Mervyn P. H. Mol, Christine L. Mummery, Christine L. Mummery, Arie O. Verkerk, Richard P. Davis   +8 more
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A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization [PDF]

Cardiovascular Research, 2003
Genetic variants of cardiac ion channels may influence cardiac repolarization. Thereby such variants may modulate the penetrance of primary electrical disorders, contribute to differences in susceptibility to drug-induced QT-prolongation between individuals, or contribute to rhythm disturbances in the context of structural heart disease.
Bezzina, Connie R., Verkerk, Arie O., Busjahn, Andreas, Jeron, Andreas, Erdmann, Jeanette, Koopmann, Tamara T., Bhuiyan, Zahurul A., Wilders, Ronald, Mannens, Marcel M. A. M., Tan, Hanno L., Luft, Friedrich C., Schunkert, Heribert, Wilde, Arthur A. M.   +12 more
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Derivation and characterization of two human induced pluripotent stem cell lines (NUIGi004-A) and (NUIGi012-A) from two patients with LQT2 disease

Stem Cell Research, 2021
Long QT syndrome type 2 (LQT2) is associated with KCNH2, which encodes the α subunit of the ion channel that controls the K+ current in the heart. Mutations of KCNH2 cause loss of Kv11.1 channel function by disrupting subunit folding, assembly, or ...
Min Liu, Ning Ge, Jianhua Zhang, Meimei Yang, Fan Yang, Janusz Krawczyk, Deirdre Ward, Veronica McInerney, Timothy O'Brien, Sanbing Shen, Terence Prendiville   +10 more
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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole‐exome sequencing

Journal of Arrhythmia, 2023
Background Long QT syndrome (LQTS) is a lethal cardiac condition. However, the clinical implementation of genetic testing has now made LQTS eminently treatable.
Amir Farjam Fazelifar, Maryam Pourirahim, Tannaz Masoumi, Alireza Biglari, Majid Maleki, Samira Kalayinia   +5 more
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Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome

Stem Cell Research, 2021
Congenital long QT syndrome type 2 (LQT2) results from KCNH2 mutations that cause loss of Kv11.1 channel function which can lead to arrhythmias, syncope, and sudden death.
Gema Mondéjar-Parreño, James W.S. Jahng, Nadjet Belbachir, Blake C. Wu, Xiaolan Zhang, Marco V. Perez, Nitish Badhwar, Joseph C. Wu   +7 more
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Tbx20 controls the expression of the KCNH2 gene and of hERG channels [PDF]

Proceedings of the National Academy of Sciences, 2017
Significance Tbx20 is a transcription factor whose critical role in cardiogenesis is well-established. Here we functionally analyzed the electrophysiological effects produced by a mutation (p.R311C) in Tbx20 found in some affected individuals belonging to a family with long QT syndrome (an inherited cardiac ...
Ricardo Caballero, Raquel G. Utrilla, Irene Amorós, Marcos Matamoros, Marta Pérez-Hernández, David Tinaquero, Silvia Alfayate, Paloma Nieto-Marín, Guadalupe Guerrero-Serna, Qing-hua Liu, Roberto Ramos-Mondragón, Daniela Ponce-Balbuena, Todd Herron, Katherine F. Campbell, David Filgueiras-Rama, Rafael Peinado, José L. López-Sendón, José Jalife, Eva Delpón, Juan Tamargo   +19 more
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Maternal mosaicism in long QT syndrome due to a pathogenic variant in KCNH2 [PDF]

HeartRhythm Case Reports, 2021
We present the case of a singleton pregnancy presenting in utero with periods of 2:1 heart block with persistent fetal bradycardia and suspected fetal ventricular tachycardia. Postnatal clinical genetic testing identified a pathogenic variant in KCNH2.
Sawyer, Briana L., Tristani-Firouzi, Martin, Wells, Layne E., Vatta, Matteo, Etheridge, Susan P.   +4 more
openaire   +2 more sources

The KCNH2 genetic polymorphism (1956, C>T) is a novel biomarker that is associated with CCB and α,β-ADR blocker response in EH patients in China.

PLoS ONE, 2013
BackgroundKCNH2 (hERG) potassium channels have an integral role in regulating the excitability of smooth muscle cells. Some pathways driven by angiotensin II, nitric oxide and adrenergic receptors blocker are involved in modulating the properties of ...
Fazhong He, Jianquan Luo, Zhiying Luo, Lan Fan, Yijing He, Dingliang Zhu, Jinping Gao, Sheng Deng, Yan Wang, Yuesheng Qian, Honghao Zhou, Xiaoping Chen, Wei Zhang   +12 more
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Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication

Frontiers in Genetics, 2022
Background: Pathogenic mutations in the KCNH2 gene were associated with long QT syndrome 2 (LQT2), which typically manifest in a prolonged QT interval and may lead to recurrent syncopes, seizure, or sudden death.
Jianlong Zhuang, Chunnuan Chen, Yuanbai Wang, Shuhong Zeng, Yu’e Chen, Yuying Jiang, Yingjun Xie, Yingjun Xie, Gaoxiong Wang   +8 more
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