[HTML][HTML] hERG K+ channels: structure, function, and clinical significance

JI Vandenberg, MD Perry, MJ Perrin… - Physiological …, 2012 - journals.physiology.org
The human ether-a-go-go related gene (hERG) encodes the pore-forming subunit of the
rapid component of the delayed rectifier K+ channel, Kv11. 1, which are expressed in the …

The genetic basis of long QT and short QT syndromes: a mutation update

PL Hedley, P Jørgensen, S Schlamowitz… - Human …, 2009 - Wiley Online Library
Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization
abnormalities that are characterized by length perturbations of the QT interval as measured …

The VGL-chanome: a protein superfamily specialized for electrical signaling and ionic homeostasis

FH Yu, WA Catterall - Science's STKE, 2004 - science.org
Complex multicellular organisms require rapid and accurate transmission of information
among cells and tissues and tight coordination of distant functions. Electrical signals and …

Molecular pathophysiology of congenital long QT syndrome

MS Bohnen, G Peng, SH Robey… - Physiological …, 2017 - journals.physiology.org
Ion channels represent the molecular entities that give rise to the cardiac action potential,
the fundamental cellular electrical event in the heart. The concerted function of these …

Most LQT2 mutations reduce Kv11. 1 (hERG) current by a class 2 (trafficking-deficient) mechanism

CL Anderson, BP Delisle, BD Anson, JA Kilby, ML Will… - Circulation, 2006 - Am Heart Assoc
Background—The KCNH2 or human ether-a-go-go related gene (hERG) encodes the Kv11.
1 α-subunit of the rapidly activating delayed rectifier K+ current (I Kr) in the heart. Type 2 …

Large-scale mutational analysis of Kv11. 1 reveals molecular insights into type 2 long QT syndrome

CL Anderson, CE Kuzmicki, RR Childs, CJ Hintz… - Nature …, 2014 - nature.com
It has been suggested that deficient protein trafficking to the cell membrane is the dominant
mechanism associated with type 2 Long QT syndrome (LQT2) caused by Kv11. 1 potassium …

Long QT syndrome: from channels to cardiac arrhythmias

AJ Moss, RS Kass - The Journal of clinical investigation, 2005 - Am Soc Clin Investig
Long QT syndrome, a rare genetic disorder associated with life-threatening arrhythmias, has
provided a wealth of information about fundamental mechanisms underlying human cardiac …

Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT …

MJ Ackerman, DJ Tester, GS Jones, ML Will… - Mayo clinic …, 2003 - Elsevier
Objective To determine the spectrum, frequency, and ethnic-specificity of channel variants in
the potassium channel genes implicated in congenital long QT syndrome (LQTS) among …

Biology of cardiac arrhythmias: ion channel protein trafficking

BP Delisle, BD Anson, S Rajamani… - Circulation research, 2004 - Am Heart Assoc
The mechanisms underlying normal and abnormal cardiac rhythms are complex and
incompletely understood. Through the study of uncommon inheritable arrhythmia …

Modeling long QT syndrome type 2 on-a-chip via in-depth assessment of isogenic gene-edited 3D cardiac tissues

J Veldhuizen, HF Mann, N Karamanova… - Science …, 2022 - science.org
Long QT syndrome (LQTS) is a cardiovascular disease characterized by QT interval
prolongation that can lead to sudden cardiac death. Many mutations with heterogeneous …