The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Inherited Dysfunction of Sarcoplasmic Reticulum Ca 2+ Handling and Arrhythmogenesis
Open accessAbstract
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease occurring in patients with a structurally normal heart: the disease is characterized by life-threatening arrhythmias elicited by stress and emotion. In 2001, the ryanodine receptor was identified as the gene that is linked to CPVT; shortly thereafter, cardiac calsequestrin was implicated in the recessive form of the same disease. It became clear that abnormalities in intracellular Ca 2+ regulation could profoundly disrupt the electrophysiological properties of the heart. In this article, we discuss the molecular basis of the disease and the pathophysiological mechanisms that are impacting clinical diagnosis and management of affected individuals. As of today, the interaction between basic scientists and clinicians to understand CPVT and identify new therapeutic strategies is one of the most compelling examples of the importance of translational research in cardiology.
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Cites
Priori, S. G., Napolitano, C., Tiso, N., Memmi, M., Vignati, G., Bloise, R., Sorrentino, V., & Danieli, G. A. (2001) · Circulation · doi:10.1161/01.cir.103.2.196 · Cited by 1,378 · cited 2×
“CPVT among patients with RyR2 mutations: (1) patients presenting reproducible bidirectional VT and polymorphic VT at exercise stress testing; (2) patients presenting only with polymorphic VT; and (3) survivors of cardiac arrest and lacking induction of arrhythmias during exercise stress test.”
BackgroundSelf-citationLahat, H., Pras, E., Olender, T., Avidan, N., Ben-Asher, E., Man, O., Levy-Nissenbaum, E., Khoury, A., Lorber, A., Goldman, B., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/324565 · Cited by 655
Cited by
Jung, C. B., Moretti, A., Mederos y Schnitzler, M., Iop, L., Storch, U., Bellin, M., Dorn, T., Ruppenthal, S., Pfeiffer, S., Goedel, A., et al. (2012) · EMBO Molecular Medicine · doi:10.1002/emmm.201100194 · Cited by 327
Park, S.-J., Zhang, D., Qi, Y., Li, Y., Lee, K. Y., Bezzerides, V. J., Yang, P., Xia, S., Kim, S. L., Liu, X., et al. (2019) · Circulation · doi:10.1161/circulationaha.119.039711 · Cited by 140
Ageing, the autonomic nervous system and arrhythmia: From brain to heart
Chadda, K. R., Ajijola, O. A., Vaseghi, M., Shivkumar, K., Huang, C. L.-H., & Jeevaratnam, K. (2018) · Ageing Research Reviews · doi:10.1016/j.arr.2018.09.005 · Cited by 77
Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes
Giacomelli, E., Mummery, C. L., & Bellin, M. (2017) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-017-2546-5 · Cited by 60
Metadata
- Authors
- Priori, S. G., & Chen, S. R. W.
- Venue
- Circulation Research
- Published
- 2011-04
- Volume
- 108
- Issue
- 7
- Pages
- 871-883
- ISSN
- 0009-7330 (ISSN-L)
- 1524-4571
- OpenAlex
- W2168013049
- Cited by
- 440
- References
- 2
- FWCI
- 26.86
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Priori, S. G., & Chen, S. R. W. (2011). Inherited Dysfunction of Sarcoplasmic Reticulum Ca 2+ Handling and Arrhythmogenesis. Circulation Research. https://doi.org/10.1161/circresaha.110.226845
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