[HTML][HTML] hERG K+ channels: structure, function, and clinical significance
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 …
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 …
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 …
among cells and tissues and tight coordination of distant functions. Electrical signals and …
Molecular pathophysiology of congenital long QT syndrome
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 …
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 …
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 …
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 …
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 …
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 …
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 …
prolongation that can lead to sudden cardiac death. Many mutations with heterogeneous …