Results 81 to 90 of about 313 (129)

Generation of KCNH2 heterozygous knockout induced pluripotent stem cell (iPSC) line (Long and Short QT Syndrome)

Stem Cell Research
KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member) encodes a voltage-activated potassium channel role as rapidly activating-delayed rectifier potassium channel that plays an essential role in the final repolarization of the ventricular action ...
Baiqiang Wang, Qian Ren, Xiaomeng Cui, Wei shan, Xiangge Guo, Xumeng Wang, Jiaxuan Wang, Yanting Li, Guipeng An   +8 more
doaj   +1 more source

Generation of human induced pluripotent stem cell lines from a fetus with congenital long QT syndrome and her healthy parents

Stem Cell Research
Long QT syndrome (LQTS) is a channelopathy that predisposes affected individuals to ventricular arrhythmias and cardiac arrest. Here, a human induced pluripotent stem cell (hiPSC) line was generated from amniotic fluid cells (AFCs) of a 32-week fetus ...
Manesha Putra, Bettina F. Cuneo, Congwu Chi, Zhen Zhang, Linnea Prudell, Kunhua Song   +5 more
doaj   +1 more source

Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation

Stem Cell Research
Long QT syndrome type 2 (LQT2) is a heart disorder resulting from a loss-of-function mutation in the KCNH2 gene that causes loss of Kv11.1 channel function, potentially resulting in syncope, arrhythmias, and sudden death.
Dasom Mun, Ji-Young Kang, Malgeum Park, Gyeongseo Yoo, Hyoeun Kim, Nuri Yun, You Mi Hwang, Boyoung Joung   +7 more
doaj   +1 more source

Potassium channel Kv11.1 (KCNH2) [PDF]

Science-Business eXchange, 2012
openaire   +1 more source

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   +1 more source

Potassium channel Kv11.1 (KCNH2) [PDF]

Science-Business eXchange, 2010
openaire   +1 more source

MeTAL enables multiparametric risk prediction for human KCNH2 variants

Abstract Background Clinical interpretation of missense variants in the hERG potassium channel encoded by the KCNH2 gene remains a major challenge in inherited arrhythmia syndromes.
Barbara Ribeiro de Oliveira, Elouan Voisin, Maxence Marbouty, Achille Gregoire, Malak Alameh, Jérôme Montnach, Aurélie Thollet, Flavien Charpentier, Isabelle Denjoy, Vincent Probst, Gildas Loussouarn, Isabelle Baró, Michel De Waard, Rupamanjari Majumder   +13 more
openaire   +2 more sources

Potassium channel Kv11.1 (KCNH2; ERG) [PDF]

Science-Business eXchange, 2012
openaire   +1 more source

Novel mutation in the KCNH2 gene associated with long QT syndrome

Revista Portuguesa de Cardiologia (English Edition), 2013
Doroteia Silva, Gabriel Miltenberger-Miltenyi, Maria José Correia, António Nunes Diogo   +3 more
openaire   +3 more sources

Anti-KCNH2 Antibody-Induced Long QT Syndrome

Journal of the American College of Cardiology, 2007
Nakamura, Kazufumi, Katayama, Yusuke, Kusano, Kengo F., Haraoka, Kayo, Tani, Yoshinori, Nagase, Satoshi, Morita, Hiroshi, Miura, Daiji, Fujimoto, Yoshihisa, Furukawa, Tetsushi, Ueda, Kazuo, Aizawa, Yoshiyasu, Kimura, Akinori, Kurachi, Yoshihisa, Ohe, Tohru   +14 more
openaire   +1 more source