Results 11 to 20 of about 10,273 (224)

Non-missense variants ofKCNH2show better outcomes in type 2 long QT syndrome [PDF]

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.
Takanori Aizawa, Yuko Wada, Kanae Hasegawa, Hai Huang, Tomohiko Imamura, Jingshan Gao, Asami Kashiwa, Hirohiko Kohjitani, Megumi Fukuyama, Koichi Kato, Eri Kato, Takashi Hisamatsu, Seiko Ohno, Takeru Makiyama, Takeshi Kimura, Minoru Horie   +15 more
openalex   +2 more sources

Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode

Frontiers in Genetics
BackgroundLong QT syndrome (LQTS) is an inherited malignant arrhythmia syndrome that poses a risk of sudden death. Variants in the Potassium Voltage-Gated Channel Subfamily H Member 2 (KCNH2) gene are known to cause Long QT syndrome through an autosomal ...
Peng Chen, Peng Chen, Zainul Zampawala, Hong Wang, Luyun Wang   +4 more
doaj   +2 more sources

Association between polymorphisms in NOS3 and KCNH2 and social memory [PDF]

Frontiers in Neuroscience, 2015
Social memory, including the ability to recognize faces and voices, is essential for social relationships. It has a large heritable component, but the knowledge about the contributing genes is sparse.
Susanne eHenningsson, Anna eZettergren, Anna eZettergren, Daniel eHovey, Lina eJonsson, Joakim eSvärd, Diana Sanchez Cortes, Jonas eMelke, Natalie C Ebner, Natalie C Ebner, Petri eLaukka, Hakan eFischer, Hakan eFischer, Lars eWestberg   +13 more
doaj   +8 more sources

6966 A Rhythmic Life-Threatening Enigma Unveiled: KCNH2 Mutation-Associated Torsades de Points Unmasking Primary Hyperaldosteronism in Cardiological Realm [PDF]

J Endocr Soc
Disclosure: S. Dejprapasorn: None. N. Nopparatana: None. S. Soonthornpun: None. R. Leelawattana: None. N. Kietsiriroje: None. S. Limumpornpetch: None. T. Nilmoje: None. W. Lohawijarn: None. T. Wongsuttipakorn: None. P. Choochuen: None. P. Limumpornpetch:
Saran Dejprapasorn, Napawadee Nopparatana, S. Soonthornpun, R. Leelawattana, N. Kietsiriroje, Sunti Limumpornpetch, Thanapon Nilmoje, W. Lohawijarn, Tanate Wongsuttipakorn, Pongsakorn Choochuen, Padiporn Limumpornpetch   +10 more
europepmc   +2 more sources

Generation of a human embryonic stem cell line (WAe009-A-43) carrying a Long QT syndrome related mutation in KCNH2 gene

Stem Cell Research, 2020
The hereditary Long QT syndrome (LQTS) is a life-threaten channelopathy of the heart characterized by prolonged QT intervals and predisposition to occur polymorphic ventricular tachyarrhythmias.
Xiaodan Wu, Yitong Zhao, Xiantao Wang
doaj   +2 more sources

Neonatal death of siblings with Uhl’s disease and KCNH2 mutation - A rare association

Annals of Pediatric Cardiology
Uhl’s disease is a rare disorder secondary to the uncontrolled destruction of right ventricular myocytes during the perinatal period. We present here the case of a 1-month-old child who died suddenly of Uhl’s disease, which was only diagnosed at autopsy ...
Francesco Ventura, Rosario Barranco, Francesca Buffelli, Ezio Fulcheri, Domenico Coviello, Antonella Palmieri   +5 more
openalex   +2 more sources

Long QT Syndrome Type 2: Emerging Strategies for Correcting Class 2 KCNH2 (hERG) Mutations and Identifying New Patients [PDF]

Biomolecules, 2020
Significant advances in our understanding of the molecular mechanisms that cause congenital long QT syndrome (LQTS) have been made. A wide variety of experimental approaches, including heterologous expression of mutant ion channel proteins and the use of
Makoto Ono, Don E. Burgess, Elizabeth A. Schroder, Claude S. Elayi, Corey L. Anderson, Craig T. January, Bin Sun, Kalyan Immadisetty, Peter M. Kekenes-Huskey, Brian P. Delisle   +9 more
doaj   +2 more sources

Pathogenic KCNH2-G53S variant in the PAS domain influences the electrophysiological phenotype in long QT syndrome type 2. [PDF]

Front Cardiovasc Med
Background Long QT syndrome type 2 (LQT2) is an arrythmia caused by loss-of-function mutations in KCNH2, leading to impaired Kv11.1 channel function. Objective To better understand LQT2, we examined the electrophysiological differences related to the ...
Mun D, Kang JY, Park M, Yoo G, Yun N, Hwang Y, Joung B.   +6 more
europepmc   +2 more sources

Discovery of Digenic Mutation, KCNH2 c.1898A >C and JUP c.916dupA, in a Chinese Family with Long QT Syndrome via Whole-Exome Sequencing

Cardiovascular Innovations and Applications, 2020
Long QT syndrome (LQTS), which is caused by an ion channel–related gene mutation, is a malignant heart disease with a clinical course of a high incidence of ventricular fibrillation and sudden cardiac death in the young. Mutations in KCNH2 (which encodes
Yafei Zhai, Jinxin Miao, Ying Peng, Guangming Fang, Chuchu Wang, Yaohe Wang, Xiaoyan Zhao, Jianzeng Dong   +7 more
doaj   +2 more sources

Human induced pluripotent stem cell line ZZUNEUi027-A generated from a long QT syndrome patient with a heterozygous KCNH2 (c. 128 A > G) mutant

Stem Cell Research, 2022
Long QT syndrome is one of the most common hereditary arrhythmias. Mutations in KCNH2 can cause long QT syndrome type 2 (LQT2). In this study, we generated a human induced pluripotent stem cell line ZZUNEUi027-A from a LQT2 female patient with c.
Jiangtao Zhao, Lu Wang, Kui Zhu, Xiaowei Chen, Fen Qin, Xiaowei Li, Jianzeng Dong, Hailong Tao   +7 more
doaj   +2 more sources