Results 1 to 10 of about 294 (110)
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.
Håkan Fischer +2 more
exaly +5 more sources
Identification and Characterization of a Transcribed Distal Enhancer Involved in Cardiac Kcnh2 Regulation [PDF]
Cell Reports, 2019 Summary: The human ether-a-go-go-related gene KCNH2 encodes the voltage-gated potassium channel underlying IKr, a current critical for the repolarization phase of the cardiac action potential. Mutations in KCNH2 that cause a reduction of the repolarizing
Ingeborg Hooijkaas +2 more
exaly +8 more sources
KCNH2 regulates the growth and metastasis of pancreatic cancer [PDF]
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 +12 more
doaj +2 more sources
Protective effect of
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 +8 more
doaj +5 more sources
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 +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 +14 more
doaj +1 more source
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 +2 more
openaire +2 more sources
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
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 +9 more
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 +3 more
doaj +1 more source