Results 21 to 30 of about 6,642 (199)

Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C)

Stem Cell Research
Long QT syndrome type 2 (LQT2), caused by mutations in the KCNH2 gene, is an inherited ion channel disorder associated with sudden death in adolescents. In this study, we generated a patient-specific induced pluripotent stem cell (iPSC) line XXMUFAi001-A
Xiaolei Li, Junbiao Zhang, Xiaofeng Wang, Dawei Pu, Zhenling Zhang, Yifang Niu, Shuai Zhang, Zhenping Fan, Yuxuan Li, Peicheng Li, Hui Liu, Fenghua Lv, Yongchun Zhang, Ya’nan Li   +13 more
doaj   +2 more sources

Hidden in Plain Sight: Electromechanical Window Negativity in Congenital Long QT Syndrome. [PDF]

Clin Case Rep
ABSTRACT Risk stratification in congenital long QT syndrome (LQTS) continues to rely heavily on genotype and QTc duration, despite their limited ability to identify individuals at highest arrhythmic risk. The electromechanical window (EMW) is a validated marker of malignant arrhythmia susceptibility, yet its presence within routine echocardiographic ...
Paterson T, Sanders R, Pooranachandran V.   +2 more
europepmc   +2 more sources

A Complex Arrhythmic Phenotype in a Pediatric Patient with Variants in <i>SCN5A</i> and <i>KCNH2</i>. [PDF]

Genes (Basel)
Long QT Syndrome type 2 (LQT2) and Brugada syndrome are inherited cardiac channelopathies that predispose affected individuals to ventricular arrhythmias and sudden cardiac death. We report the case of a 15-year-old male carrying two pathogenic variants:
Bienjonetti-Boudreau D, Tremblay-Laganiere C, Gkogkou E, Martinez A, Gonzalez Corcia C.   +4 more
europepmc   +2 more sources

Kcnh2 deletion is associated with rat embryonic development defects via destruction of KCNH2‑integrin β1 complex

International Journal of Molecular Medicine, 2023
The Kv11.1 potassium channel encoded by the Kcnh2 gene is crucial in conducting the rapid delayed rectifier K+ current in cardiomyocytes. Homozygous mutation in Kcnh2 is embryonically lethal in humans and mice. However, the molecular signaling pathway of intrauterine fetal loss is unclear.
Hu, Sangyu, Li, Zhigang, Liu, Huan, Cao, Wenze, Meng, Yilei, Liu, Chang, He, Siyu, Lin, Qin, Shang, Mengyue, Lin, Fang, Yi, Na, Wang, Hanrui, Sachinidis, Agapios, Ying, Qilong, Li, Li, Peng, Luying   +15 more
openaire   +2 more sources

Anesthetic Care of a Child Harboring the KCNH2 Gene

Journal of Medical Cases, 2022
Epilepsy is a heterogeneous group of disorders characterized by recurrent and generally unprovoked seizures. Genetic mutations may play an important role in the etiology of epilepsy. Over the past few years, genetic mutations in various genes have been identified in patients with epilepsy.
Ghimire, Anuranjan, Banoub, Rita W., Tobias, Joseph D.   +2 more
openaire   +2 more sources

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

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
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

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
openaire   +2 more sources