The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Familial Sinus Bradycardia Associated with a Mutation in the Cardiac Pacemaker Channel
Open accessAbstract
We found that sinus bradycardia in members of a large family was associated with a mutation in the gene coding for the pacemaker HCN4 ion channel. Pacemaker channels of the sinoatrial node generate spontaneous activity and mediate cyclic AMP (cAMP)-dependent autonomic modulation of the heart rate. The mutation associated with bradycardia is located near the cAMP-binding site; functional analysis found that mutant channels respond normally to cAMP but are activated at more negative voltages than are wild-type channels. These changes, which mimic those of mild vagal stimulation, slow the heart rate by decreasing the inward diastolic current. Thus, diminished function of pacemaker channels is linked to familial bradycardia.
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Citations
Cites
Morbidity and Mortality in Cardiovascular Disorders: Impact of Reduced Heart Rate
Singh, B. N. (2001) · Journal of Cardiovascular Pharmacology and Therapeutics · doi:10.1177/107424840100600401 · Cited by 41
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Kusumoto, F. M., Schoenfeld, M. H., Barrett, C., Edgerton, J. R., Ellenbogen, K. A., Gold, M. R., Goldschlager, N. F., Hamilton, R. M., Joglar, J. A., Kim, R. J., et al. (2019) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.10.044 · Cited by 1,008
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Baruscotti, M., Bucchi, A., Milanesi, R., Paina, M., Barbuti, A., Gnecchi-Ruscone, T., Bianco, E., Vitali-Serdoz, L., Cappato, R., & DiFrancesco, D. (2017) · European Heart Journal · doi:10.1093/eurheartj/ehv582 · Cited by 93
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“The discovery of the molecular correlate of If/Ih in the late ‘90s gave impulse not only to the transgenic models, but also gained insights into channel tissue distribution beyond cardiac cells, as well as trafficking, plasticity [8], and genotypephenotype correlation in human diseases [9].”
BackgroundCharacterization of drug binding within the HCN1 channel pore
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Vosselman, M. J., Vijgen, G. H. E. J., Kingma, B. R. M., Brans, B., & van Marken Lichtenbelt, W. D. (2014) · PLoS ONE · doi:10.1371/journal.pone.0101653 · Cited by 27
Metadata
- Authors
- Milanesi, R., Baruscotti, M., Gnecchi-Ruscone, T., & DiFrancesco, D.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2006-01-12
- Volume
- 354
- Issue
- 2
- Pages
- 151-157
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2085774451
- Cited by
- 402
- References
- 1
- FWCI
- 18.15
- Type
- journal article
- Language
- en
- Open access
- bronze
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
