Results 21 to 30 of about 6,848 (166)

Case Report: A novel KNCH2 variant-induced fetal heart block and the advantages of fetal genomic sequencing in prenatal long-term dexamethasone exposure

Frontiers in Genetics, 2022
Background: Fetal bradycardia is a common but severe condition. In addition to autoimmune-mediated fetal heart block, several types of channelopathies induce high-degree atrioventricular block (AVB).
Huiping Huang, Huiping Huang, Siyuan Jing, Shaoying Wu, Li Wei, Qian Zhang, Yimin Hua, Yifei Li, Haiyan Yu, Kaiyu Zhou   +9 more
doaj   +1 more source

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

Establishment of human embryonic stem cell WAe009-A-88 carrying a long QT syndrome mutation in KCNH2

Stem Cell Research, 2022
Long-QT syndrome type 2 (LQT2) is a life-threatening Mendelian disease caused by genetic variants in KCNH2. Herein, we generated a human embryonic stem cell line (WAe009-A-88) carrying a LQT2 related mutation in KCNH2, c.1720 A>G.
Hong Wen, Lixiang Sun, Jiaqi Zhong, Fujian Wu   +3 more
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
doaj   +1 more source

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
doaj   +1 more source

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
doaj   +1 more source

Non-missense variants of KCNH2 show better outcomes in type 2 long QT syndrome.

Europace, 2023
AIMS More than one-third of type 2 long QT syndrome (LQT2) patients carry KCNH2 non-missense variants that can result in haploinsufficiency (HI), leading to mechanistic loss-of-function. However, their clinical phenotypes have not been fully investigated.
T. Aizawa, Y. Wada, K. Hasegawa, Hai Huang, T. Imamura, Jingshan Gao, A. Kashiwa, H. Kohjitani, M. Fukuyama, K. Kato, Eri Toda Kato, T. Hisamatsu, S. Ohno, T. Makiyama, Takeshi Kimura, M. Horie   +15 more
semanticscholar   +1 more source

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
doaj   +1 more source

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

medRxiv, 2023
Long QT syndrome (LQTS), caused by the dysfunction of cardiac ion channels, increases the risk of sudden death in otherwise healthy young people. For many variants in LQTS genes there is insufficient evidence to make a definitive genetic diagnosis.
Kate L Thomson, Connie Jiang, E. Richardson, D. Westphal, T. Burkard, C. Wolf, Matteo Vatta, Steven M. Harrison, J. Ingles, C. Bezzina, B. Kroncke, J. I. Vandenberg, C. Ng   +12 more
semanticscholar   +1 more source

Escitalopram-induced QTc prolongation and its relationship with KCNQ1, KCNE1, and KCNH2 gene polymorphisms.

Journal of Affective Disorders, 2023
BACKGROUND Escitalopram can cause prolongation of the QT interval on the electrocardiogram (ECG). However, only some patients get pathological QTc prolongation in clinic.
Zimu Chen, Zhi Xu, Chenjie Gao, Lei Chen, Tingting Tan, Wenhao Jiang, Bingwei Chen, Yonggui Yuan, Zhijun Zhang   +8 more
semanticscholar   +1 more source