Results 11 to 20 of about 6,848 (166)

Personalized in vitro models reveal functional impact of a <i>KCNH2</i> mutation and enable drug screening in LQTS2. [PDF]

Heart Rhythm O2
Background Long QT syndrome is clinically associated with recurrent ventricular tachycardia and sudden cardiac death. Mutations in KCNH2, which encodes the pore-forming potassium channel subunit human ether-a-go-go-related gene (Kv11.1), are associated ...
Zheng B, Zhu Y, Sun M, Cheng H, Zhang S, Cai C, Gu K, An Y, Ding X, Zhang F, Cui C, Chen M.   +11 more
europepmc   +2 more sources

A synonymous KCNH2 polymorphism and methadone trough level influence QTc prolongation in Kelantanese Malay recipients of methadone maintenance therapy (MMT) in Malaysia. [PDF]

PLoS One
Potassium voltage-gated channel subfamily H member 2 (KCNH2) polymorphisms have been found to influence the heart-rate adjusted QT (QTc) intervals. We investigated the association between KCNH2 polymorphisms and QTc intervals among Malay opioid-dependent
Abdul Jalal MI, Abdullah-Zawawi MR, Musa N, Ghazali B, Zahari Z, Mohamad N.   +5 more
europepmc   +2 more sources

KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort

Life, 2022
Long QT syndrome (LQTS) is an inherited (autosomal dominant) channelopathy associated with susceptibility to ventricular arrhythmias due to malfunction of ion channels in cardiomyocytes, that could lead to sudden death (SD).
Rebeca Lorca, Alejandro Junco-Vicente, Alicia Pérez-Pérez   +2 more
exaly   +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 Medicine
Background 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, Qiu Chen, Xiang‐Ting Lu, Hai‐Long Dai, Xue‐Feng Guang   +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 Medicine
Long 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, Viviana A. Ruiz-Pozo, Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Leonel Meza-Chico, Ana Karina Zambrano   +8 more
doaj   +2 more sources

Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia

Genes, 2022
Background: Cardiac autonomic dysfunction (CADF) is a major contributor to increased cardiac mortality in schizophrenia patients. The aberrant function of voltage-gated ion channels, which are widely distributed in the brain and heart, may link ...
Alexander Refisch, Andy Schumann, Ha-Yeun Chung   +2 more
exaly   +2 more sources

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   +2 more sources

Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation

Frontiers in Genetics, 2022
Background: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy, long QT syndrome (LQTS) is a rare ion channel disease, and simultaneous occurrence of both is even rarer.
Hairui Sun, Xiaowei Liu, Xiaoyan Hao, Xiaoxue Zhou, Jingyi Wang, Jiancheng Han, Mengmeng Liang, Hongjia Zhang, Yihua He   +8 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, 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

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