Results 11 to 20 of about 9,233 (239)

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations [PDF]

BMC Medical Genetics, 2008
Background KCNQ1 and KCNH2 are the two most common potassium channel genes causing long QT syndrome (LQTS), an inherited cardiac arrhythmia featured by QT prolongation and increased risks of developing torsade de pointes and sudden death.
Oberti Carlos, Redfearn Sharon, Bryant Randall M, Liu Mugen, Zhang Li, Chen Shenghan, Zhang Xianqin, Vincent G Michael, Wang Qing K   +8 more
doaj   +3 more sources

KCNH2 Regulates the Growth and Metastasis of Pancreatic Cancer [PDF]

Journal of Pancreatology, 2021
Objective: Due to the characteristics of insidious onset and early metastasis of pancreatic cancer (PC), patients are often diagnosed at an advanced stage and often delayed in completing surgical resection timely, resulting in poor prognosis.
Bin Zhou, Jing‐Hao Lei, Qiang Wang, Tengfei Qu, Lichao Cha, Hanxiang Zhan, Jianwei Xu, Shanglong Liu, Lantian Tian, Chuandong Sun, Jingyu Cao, Fabo Qiu, Weidong Guo   +12 more
openalex   +4 more sources

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

Front Cardiovasc Med
Mun D, Kang JY, Park M, Yoo G, Yun N, Hwang Y, Joung B.   +6 more
europepmc   +2 more sources

Short QT Syndrome and Atrial Fibrillation Caused by Mutation in KCNH2 [PDF]

Journal of Cardiovascular Electrophysiology, 2005
Background: The short QT syndrome is a newly described clinical entity characterized by the presence of a short QT interval associated with cardiac tachyarrhythmias including sudden cardiac death at a young age in otherwise healthy individuals. A genetic basis has been identified linking the disease to mutations in KCNH2 in the familial forms and a ...
Kui Hong, Preben Bjerregaard, Ihor Gussak, Ramón Brugada   +3 more
openalex   +3 more sources

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.
Connie R. Bezzina
openalex   +3 more sources

Síndrome de QT largo: Nueva mutación en el gen KCNH2

Iatreia, 2010
Se presenta el caso de un paciente masculino de 10 años, con cuadro clínico y electrocardiográfico concordante con síndrome de QT largo, en quien se realizó secuenciación de los genes KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), KCNE2 (LQT6 ...
Luis Arturo Lizcano Gil, Karina Mancera
doaj   +1 more source

KCNH2 regulates the growth and metastasis of pancreatic cancer

Journal of Pancreatology, 2023
Objective:. Due to the characteristics of insidious onset and early metastasis of pancreatic cancer (PC), patients are often diagnosed at an advanced stage and often delayed in completing surgical resection timely, resulting in poor prognosis. Therefore,
Jinghao Lei, Qiang Wang, Tengfei Qu, Lichao Cha, Hanxiang Zhan, Jianwei Xu, Shanglong Liu, Lantian Tian, Chuandong Sun, Jingyu Cao, Fabo Qiu, Weidong Guo, Bin Zhou   +12 more
doaj   +1 more source

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

Loss‐of‐function variants in Kv11.1 cardiac channels as a biomarker for SUDEP

Annals of Clinical and Translational Neurology, 2021
Objective To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls comprising patients older than 50 years, a group with low SUDEP risk, and establish loss‐of‐function KCNH2 variants as ...
Ming S. Soh, Richard D. Bagnall, Mark F. Bennett, Lauren E. Bleakley, Erlina S. Mohamed Syazwan, A. Marie Phillips, Mathew D. F. Chiam, Chaseley E. McKenzie, Michael Hildebrand, Douglas Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid   +14 more
doaj   +1 more source

Integrated analysis of the voltage-gated potassium channel-associated gene KCNH2 across cancers

BMC Bioinformatics, 2023
KCNH2 encodes the human ether-a-go-go-related gene (hERG) potassium channel and is an important repolarization reserve for regulating cardiac electrical activity. Increasing evidence suggests that it is involved in the development of various tumours, yet
Zequn Zheng, Yongfei Song
doaj   +1 more source