ArticleHeart and vessels2018
A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction.
Article in Heart and vessels, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 citations in OpenAlex.
- HCN4 gain-of-function mutation increases intrinsic heart rate and limits maladaptive remodeling under pressure overload.Frontiers in pharmacology · 2026Article
- Inherited Hypertrabeculation? Genetic and Clinical Insights in Blood Relatives of Genetically Affected Left Ventricular Excessive Trabeculation Patients.Life (Basel, Switzerland) · 2025Article
- An anchor-tether 'hindered' HCN1 inhibitor is antihyperalgesic in a rat spared nerve injury neuropathic pain model.British journal of anaesthesia · 2023Article
- Genetics of sinoatrial node function and heart rate disorders.Disease models & mechanisms · 2023Review
- Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.Orphanet journal of rare diseases · 2021Article
- Contribution of HCN1 variant to sinus bradycardia: A case report.Journal of arrhythmia · 2021Article
- Left Ventricular Noncompaction: New Insights into a Poorly Understood Disease.Current cardiology reviews · 2021Review
- Left Ventricular Noncompaction Syndrome: Genetic Insights and Therapeutic Perspectives.Current cardiology reports · 2020Review
- Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework.International journal of genomics · 2020Article
- ISL1 loss-of-function mutation contributes to congenital heart defects.Heart and vessels · 2019Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
We found that a female infant presenting with left bundle branch block and left ventricular noncompaction carries uninvestigated gene mutations HCN4(G811E), SCN5A(L1988R), DMD(S2384Y), and EMD(R203H). Here, we explored the possible pathogenicity of HCN4(G811E), which results in a G811E substitution in hyperpolarization-activated cyclic nucleotide-gated channel 4, the main subunit of the cardiac pacemaker channel. Voltage-clamp measurements in a heterologous expression system of HEK293T cells showed that HCN4(G811E) slightly reduced whole-cell HCN4 channel conductance, whereas it did not affect the gating kinetics, unitary conductance, or cAMP-dependent modulation of voltage-dependence. Immunocytochemistry and immunoblot analysis showed that the G811E mutation did not impair the membrane trafficking of the channel subunit in the heterologous expression system. These findings indicate that HCN4(G811E) may not be a monogenic factor to cause the cardiac disorders.
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