| Coexistent HCN4 and GATA5 Rare Variants and Atrial Fibrillation in a Large Spanish Family. | Coexistent HCN4 and GATA5 Rare Variants and Atrial Fibrillation in a Large Spanish Family.
Fraile A, Cebrián J, Thuissard-Vasallo I, Pérez-Martín S, Casado R, Gil-Fournier B, Alonso-Martín J, Tamargo J, Caballero R, Delpón E, Cosío FG. | 08/6/2024 |
| A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family. | A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family.
Cámara-Checa A, Perin F, Rubio-Alarcón M, Dago M, Crespo-García T, Rapún J, Marín M, Cebrián J, Gómez R, Bermúdez-Jiménez F, Monserrat L, Tamargo J, Caballero R, Jiménez-Jáimez J, Delpón E., Free PMC Article | 12/5/2023 |
| Channel HCN4 mutation R666Q associated with sporadic arrhythmia decreases channel electrophysiological function and increases protein degradation. | Channel HCN4 mutation R666Q associated with sporadic arrhythmia decreases channel electrophysiological function and increases protein degradation.
Wang H, Wu T, Huang Z, Huang J, Geng Z, Cui B, Yan Y, Zhang Y, Wang Y., Free PMC Article | 12/3/2022 |
| Virus-induced inhibition of cardiac pacemaker channel HCN4 triggers bradycardia in human-induced stem cell system. | Virus-induced inhibition of cardiac pacemaker channel HCN4 triggers bradycardia in human-induced stem cell system.
Peischard S, Möller M, Disse P, Ho HT, Verkerk AO, Strutz-Seebohm N, Budde T, Meuth SG, Schweizer PA, Morris S, Mücher L, Eisner V, Thomas D, Klingel K, Busch K, Seebohm G., Free PMC Article | 07/30/2022 |
| Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants. | Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants.
Paszkowska A, Piekutowska-Abramczuk D, Ciara E, Mirecka-Rola A, Brzezinska M, Wicher D, Kostrzewa G, Sarnecki J, Ziółkowska L., Free PMC Article | 05/7/2022 |
| Altered cyclic nucleotide binding and pore opening in a diseased human HCN4 channel. | Altered cyclic nucleotide binding and pore opening in a diseased human HCN4 channel.
Ng LCT, Li YX, Van Petegem F, Accili EA., Free PMC Article | 04/23/2022 |
| Enhancement of pacing function by HCN4 overexpression in human pluripotent stem cell-derived cardiomyocytes. | Enhancement of pacing function by HCN4 overexpression in human pluripotent stem cell-derived cardiomyocytes.
Saito Y, Nakamura K, Yoshida M, Sugiyama H, Akagi S, Miyoshi T, Morita H, Ito H., Free PMC Article | 04/16/2022 |
| Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction: Phenotype/Genotype of Noncompaction. | Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction: Phenotype/Genotype of Noncompaction.
Cambon-Viala M, Gerard H, Nguyen K, Richard P, Ader F, Pruny JF, Donal E, Eicher JC, Huttin O, Selton-Suty C, Raud-Raynier P, Jondeau G, Mansencal N, Sawka C, Casalta AC, Michel N, Donghi V, Martel H, Faivre L, Charron P, Habib G. | 10/23/2021 |
| Disease-associated HCN4 V759I variant is not sufficient to impair cardiac pacemaking. | Disease-associated HCN4 V759I variant is not sufficient to impair cardiac pacemaking.
Erlenhardt N, Kletke O, Wohlfarth F, Komadowski MA, Clasen L, Makimoto H, Rinné S, Kelm M, Jungen C, Decher N, Meyer C, Klöcker N., Free PMC Article | 09/25/2021 |
| Gating movements and ion permeation in HCN4 pacemaker channels. | Gating movements and ion permeation in HCN4 pacemaker channels.
Saponaro A, Bauer D, Giese MH, Swuec P, Porro A, Gasparri F, Sharifzadeh AS, Chaves-Sanjuan A, Alberio L, Parisi G, Cerutti G, Clarke OB, Hamacher K, Colecraft HM, Mancia F, Hendrickson WA, Siegelbaum SA, DiFrancesco D, Bolognesi M, Thiel G, Santoro B, Moroni A., Free PMC Article | 07/31/2021 |
| [The effects of PDK1-Akt signaling pathway intervention on cardiomyocyte HCN4 ion channels]. | [The effects of PDK1-Akt signaling pathway intervention on cardiomyocyte HCN4 ion channels].
Han ZL, Wu X, Liu XH, Chen Z, Bai J, Chen X, Xu W. | 11/28/2020 |
| HCN4-P883R may increase ectopic trigger and maintenance of atrial fibrillation by shifting the activation voltage. | The C-terminal HCN4 variant P883R alters channel properties and acts as genetic modifier of atrial fibrillation and structural heart disease.
Weigl I, Geschwill P, Reiss M, Bruehl C, Draguhn A, Koenen M, Sedaghat-Hamedani F, Meder B, Thomas D, Katus HA, Schweizer PA. | 05/30/2020 |
| We report the in vitro functional characterization of four rare variants of uncertain significance in HCN4, identified through testing a cohort of 296 sudden unexpected natural deaths | Functional reclassification of variants of uncertain significance in the HCN4 gene identified in sudden unexpected death.
Dong J, Subbotina E, Williams N, Sampson BA, Tang Y, Coetzee WA. | 01/4/2020 |
| HCN4 gene polymorphisms and lone atrial fibrillation risk | Correlation between HCN4 gene polymorphisms and lone atrial fibrillation risk.
Li XH, Hu YM, Yin GL, Wu P. | 12/21/2019 |
| One missense heterozygous variant c.1578C>T (Ala195Val) and four synonymous heterozygous variants c.1552C>T, c.2833C>T, c.3823C>T, and c.4189C>A were discovered in the Sudden unexplained nocturnal death syndrome cases | HCN4 Gene Variations in Sudden Unexplained Nocturnal Death Syndrome in the Southern Han Chinese Population.
Wu Q, Zhao Q, Yin K, Hu BJ, Cheng J. | 08/24/2019 |
| Results found that HCN4 expression level is modulated by GSK3B in neurons. | GSK3β activity alleviates epileptogenesis and limits GluA1 phosphorylation.
Urbanska M, Kazmierska-Grebowska P, Kowalczyk T, Caban B, Nader K, Pijet B, Kalita K, Gozdz A, Devijver H, Lechat B, Jaworski T, Grajkowska W, Sadowski K, Jozwiak S, Kotulska K, Konopacki J, Van Leuven F, van Vliet EA, Aronica E, Jaworski J., Free PMC Article | 06/15/2019 |
| The article described how the structure of the apo cAMP binding domain of the HCN4 isoform has contributed to a model for the cAMP-dependent modulation of the HCN ion-channel. (Review) | The structure of the apo cAMP-binding domain of HCN4 - a stepping stone toward understanding the cAMP-dependent modulation of the hyperpolarization-activated cyclic-nucleotide-gated ion channels.
Akimoto M, VanSchouwen B, Melacini G. | 04/13/2019 |
| Human cardiomyocyte progenitor cells expressing HCN4-GFP functionally couple to neonatal rat ventricular myocytes and induce physiologically controlled pacemaker activity and may therefore provide an attractive delivery platform for sustained pacemaker function. | Cardiomyocyte Progenitor Cells as a Functional Gene Delivery Vehicle for Long-Term Biological Pacing.
Végh AMD, den Haan AD, Cócera Ortega L, Verkerk AO, Sluijter JPG, Bakker D, van Amersfoorth S, van Veen TAB, Klerk M, Seppen J, de Bakker JMT, Christoffels VM, Geerts D, Goumans MJTH, Tan HL, Boink GJJ., Free PMC Article | 03/16/2019 |
| The authors report here the first evidence for a heterozygous gain-of-function mutation in the pacemaker HCN4 channel associated with symptoms of familial Inappropriate Sinus Tachycardia. | A gain-of-function mutation in the cardiac pacemaker HCN4 channel increasing cAMP sensitivity is associated with familial Inappropriate Sinus Tachycardia.
Baruscotti M, Bucchi A, Milanesi R, Paina M, Barbuti A, Gnecchi-Ruscone T, Bianco E, Vitali-Serdoz L, Cappato R, DiFrancesco D. | 03/2/2019 |
| Three HCN4 mutations identified in sick sinus syndrome patients caused loss of function in vitro. Loss of function may have resulted from significantly reduced functional HCN4 channel availability and cell surface expression due to defective trafficking. | In Vitro Analyses of Novel HCN4 Gene Mutations.
Möller M, Silbernagel N, Wrobel E, Stallmayer B, Amedonu E, Rinné S, Peischard S, Meuth SG, Wünsch B, Strutz-Seebohm N, Decher N, Schulze-Bahr E, Seebohm G. | 12/1/2018 |
| These findings indicate that HCN4(G811E) may not be a monogenic factor to cause the cardiac disorders. | A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction.
Yokoyama R, Kinoshita K, Hata Y, Abe M, Matsuoka K, Hirono K, Kano M, Nakazawa M, Ichida F, Nishida N, Tabata T. | 09/1/2018 |
| We here report on multiple families harboring HCN4 mutations, who show significant dilation of the aorta ascendens | Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations.
Vermeer AMC, Lodder EM, Thomas D, Duijkers FAM, Marcelis C, van Gorselen EOF, Fortner P, Buss SJ, Mereles D, Katus HA, Wilde AAM, Bezzina CR, Boekholdt SM, Schweizer PA, Christiaans I. | 08/11/2018 |
| A novel splice site HCN4 gene mutation was identified in a large family with familial bradycardia. | 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, Csányi B, Ördög B, Kákonyi K, Tringer A, Kiss O, Orosz A, Sághy L, Nagy I, Hegedűs Z, Rudas L, Széll M, Varró A, Forster T, Sepp R. | 03/24/2018 |
| Sick sinus syndrome (SSS) with HCN4 mutations may form a distinct SSS subgroup characterized by early clinical manifestation after adolescence and frequent association with atrial fibrillation and left ventricular noncompaction. | Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction.
Ishikawa T, Ohno S, Murakami T, Yoshida K, Mishima H, Fukuoka T, Kimoto H, Sakamoto R, Ohkusa T, Aiba T, Nogami A, Sumitomo N, Shimizu W, Yoshiura KI, Horigome H, Horie M, Makita N. | 02/10/2018 |
| This study has identified 4 synonymous variants in the HCN4 gene and 3 SNPs in the CYP3A4 gene. None of the variants appear to have a major effect on the reduction of HR produced by ivabradine. | Analysis of variants in the HCN4 gene and in three single nucleotide polymorphisms of the CYP3A4 gene for association with ivabradine reduction in heart rate: A preliminary report.
Núñez L, Crespo-Leiro MG, Marrón-Liñares GM, Suarez-Fuentetaja N, Barge-Caballero E, Paniagua-Martín MJ, Marzoa-Rivas R, Grille-Cancela Z, Muñiz-García J, Vazquez-Rodriguez JM, Hermida-Prieto M. | 02/3/2018 |