Associated Papers
A rare HCN4 variant combined with sick sinus syndrome, left ventricular noncompaction, and complex congenital heart disease.
Zhang F et al.
Channels (austin, Tex.), 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
The Action Potential Clamp Technique as a Tool for Risk Stratification of Sinus Bradycardia Due to Loss-of-Function Mutations in HCN4: An In Silico Exploration Based on In Vitro and In Vivo Data.
Verkerk AO et al.
Biomedicines, 2023
Channel HCN4 mutation R666Q associated with sporadic arrhythmia decreases channel electrophysiological function and increases protein degradation.
Wang H et al.
The Journal of Biological Chemistry, 2022
Altered cyclic nucleotide binding and pore opening in a diseased human HCN4 channel.
Ng LCT et al.
Biophysical Journal, 2022
Fetal Arrhythmias: Genetic Background and Clinical Implications.
Yuan SM
Pediatric Cardiology, 2019
NMR methods to dissect the molecular mechanisms of disease-related mutations (DRMs): Understanding how DRMs remodel functional free energy landscapes.
Byun JA et al.
Methods (san Diego, Calif.), 2018
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
Free energy landscape remodeling of the cardiac pacemaker channel explains the molecular basis of familial sinus bradycardia.
Boulton S et al.
The Journal of Biological Chemistry, 2017
A gain-of-function mutation in the cardiac pacemaker HCN4 channel increasing cAMP sensitivity is associated with familial Inappropriate Sinus Tachycardia.
Baruscotti M et al.
European Heart Journal, 2017
Current understanding of the pathophysiological mechanisms responsible for inappropriate sinus tachycardia: role of the If "funny" current.
Baruscotti M et al.
Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2016
The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.
Milanesi R et al.
Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2015
HCN4, Sinus Bradycardia and Atrial Fibrillation.
DiFrancesco D
Arrhythmia & Electrophysiology Review, 2015
HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.
Milano A et al.
Journal of the American College of Cardiology, 2014
Pacemaker activity of the human sinoatrial node: effects of HCN4 mutations on the hyperpolarization-activated current.
Verkerk AO et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2014
A novel HCN4 mutation, G1097W, is associated with atrioventricular block.
Zhou J et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2014
Local and global interpretations of a disease-causing mutation near the ligand entry path in hyperpolarization-activated cAMP-gated channel.
Xu X et al.
Structure (london, England : 1993), 2012
Not very funny: how a single mutation causes heritable bradycardia.
Buraei Z et al.
Structure (london, England : 1993), 2012
Evolutionary genomics reveals the premetazoan origin of opposite gating polarity in animal-type voltage-gated ion channels.
Cai X
Genomics, 2012
The HCN4 channel mutation D553N associated with bradycardia has a C-linker mediated gating defect.
Netter MF et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2012
Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases.
Tu E et al.
Brain Pathology (zurich, Switzerland), 2011
A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews.
Laish-Farkash A et al.
Journal of Cardiovascular Electrophysiology, 2010
Structural basis for the cAMP-dependent gating in the human HCN4 channel.
Xu X et al.
The Journal of Biological Chemistry, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
The Contribution of HCN4 to normal sinus node function in humans and animal models.
Nof E et al.
Pacing and Clinical Electrophysiology : Pace, 2010
Pacemaker activity of the human sinoatrial node: role of the hyperpolarization-activated current, I(f).
Verkerk AO et al.
International Journal of Cardiology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel.
Milanesi R et al.
The New England Journal of Medicine, 2006
HCN4 and arrhythmias: Insights into base mutations.
Fan W et al.
Mutation Research. Reviews in Mutation Research, 0