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
Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm.
Backwell L et al.
Annual Review of Genomics and Human Genetics, 2022
Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.
Iop L et al.
Cells, 2021
Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients.
Weng S et al.
Plos One, 2021
The missense variant p.(Gly482Arg) in HCN4 is responsible for fetal tachy-bradycardia syndrome.
Wacker-Gussmann A et al.
Heartrhythm Case Reports, 2020
Do HCN4 Variants Predispose to Thoracic Aortic Aneurysms and Dissections?
Hanania HL et al.
Circulation. Genomic and Precision Medicine, 2019
Functional reclassification of variants of uncertain significance in the HCN4 gene identified in sudden unexpected death.
Dong J et al.
Pacing and Clinical Electrophysiology : Pace, 2019
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.
Hosseini SM et al.
Circulation, 2018
In Vitro Analyses of Novel HCN4 Gene Mutations.
Möller M et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018
A novel 'splice site' HCN4 Gene mutation, c.1737+1 G>T, causes familial bradycardia, reduced heart rate response, impaired chronotropic competence and increased short-term heart rate variability.
Hategan L et al.
International Journal of Cardiology, 2017
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 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
Coordinating heart morphogenesis: A novel role for hyperpolarization-activated cyclic nucleotide-gated (HCN) channels during cardiogenesis in Xenopus laevis.
Pitcairn E et al.
Communicative & Integrative Biology, 2017
A Functional Assay for Sick Sinus Syndrome Genetic Variants.
Jou CJ et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2017
Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function.
Biel S et al.
Pflugers Archiv : European Journal of Physiology, 2016
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
Genetics of atrial fibrillation: from families to genomes.
Christophersen IE et al.
Journal of Human Genetics, 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
Pacemaker activity of the human sinoatrial node: an update on the effects of mutations in HCN4 on the hyperpolarization-activated current.
Verkerk AO et al.
International Journal of Molecular Sciences, 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
Altered HCN4 channel C-linker interaction is associated with familial tachycardia-bradycardia syndrome and atrial fibrillation.
Duhme N et al.
European Heart Journal, 2013
Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.
Gaunt TR et al.
Circulation. Cardiovascular Genetics, 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
cAMP sensitivity of HCN pacemaker channels determines basal heart rate but is not critical for autonomic rate control.
Schweizer PA et al.
Circulation. Arrhythmia and Electrophysiology, 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
Rescue of a trafficking defective human pacemaker channel via a novel mechanism: roles of Src, Fyn, and Yes tyrosine kinases.
Lin YC et al.
The Journal of Biological Chemistry, 2009
Pacemaker activity of the human sinoatrial node: role of the hyperpolarization-activated current, I(f).
Verkerk AO et al.
International Journal of Cardiology, 2009
Novel mechanism for suppression of hyperpolarization-activated cyclic nucleotide-gated pacemaker channels by receptor-like tyrosine phosphatase-alpha.
Huang J et al.
The Journal of Biological Chemistry, 2008
Pathophysiology of HCN channels.
Herrmann S et al.
Pflugers Archiv : European Journal of Physiology, 2007
Pharmacogenetics and cardiac ion channels.
Roepke TK et al.
Vascular Pharmacology, 2006
Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia.
Ueda K et al.
The Journal of Biological Chemistry, 2004
HCN4 and arrhythmias: Insights into base mutations.
Fan W et al.
Mutation Research. Reviews in Mutation Research, 0