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 B Hooijkaas +2 more
exaly +3 more sources
AI-driven network pharmacology and multi-omics validation identify KCNH2 as a prognostic biomarker and candidate therapeutic vulnerability of Acorus tatarinowii in glioblastoma [PDF]
Frontiers in PharmacologyBackgroundGlioblastoma (GBM) remains a highly aggressive malignancy with limited effective therapeutic options. Integrating traditional medicine resources with artificial intelligence–based analytical strategies may accelerate the identification of novel
Xiaoqing Song +6 more
doaj +2 more sources
Genetic and functional characterization of a novel SERPIND1 variant in a family with isolated gastric varices and venous thrombosis [PDF]
BMC GastroenterologyBackground Isolated gastric varices type I (IGV1) is a rare but severe manifestation of splenic vein thrombosis. While thrombophilia is a recognized cause, the underlying genetic determinants are often elusive.
Xue-yan Lin +9 more
doaj +2 more sources
Case Report: Association of a rare single nucleotide variant in the KCNH2 gene with drug-induced QT prolongation [PDF]
Frontiers in GeneticsBackgroundLong QT Syndrome (LQTS) is characterized by prolonged QT intervals on electrocardiogram, which may progress into life-threatening polymorphic ventricular tachycardia and sudden cardiac death. Variants in the KCNH2 gene have been associated with
Tianci Wang +4 more
doaj +2 more sources
Case Report Series: Genetic and clinical characterization of long QT syndrome in admixed Ecuadorian patients and its implications for sudden cardiac death risk [PDF]
Frontiers in Cardiovascular MedicineLong QT syndrome (LQTS) is a hereditary cardiac channelopathy associated with delayed ventricular repolarization and increased risk of life-threatening arrhythmias and sudden cardiac death.
Elius Paz-Cruz +8 more
doaj +2 more sources
KCNH2‐L693P Causes Long QT Syndrome Type 2 Through hERG Channel Dysfunction: Functional Validation of a Variant of Uncertain Significance [PDF]
Molecular Genetics & Genomic MedicineBackground Congenital long QT syndrome (LQTS) is an inherited arrhythmia characterized by QT prolongation and increased risk of ventricular arrhythmias. Type 2 LQTS (LQT2) results from mutations in the KCNH2 gene encoding the hERG potassium channel. With
Xi‐Fan Zheng +4 more
doaj +2 more sources
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 +12 more
doaj +1 more source
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
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