The DOI matches its Crossref record.
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
Open accessAbstract
Arrhythmogenic right ventricular dysplasia type 2 (ARVD2, OMIM 600996) is an autosomal dominant cardiomyopathy, characterized by partial degeneration of the myocardium of the right ventricle, electrical instability and sudden death. The disease locus was mapped to chromosome 1q42--q43. We report here on the physical mapping of the critical ARVD2 region, exclusion of two candidate genes (actinin 2 and nidogen), elucidation of the genomic structure of the cardiac ryanodine receptor gene (RYR2) and identification of RYR2 mutations in four independent families. In myocardial cells, the RyR2 protein, activated by Ca(2+), induces the release of calcium from the sarcoplasmic reticulum into the cytosol. RyR2 is the cardiac counterpart of RyR1, the skeletal muscle ryanodine receptor, involved in malignant hyperthermia (MH) susceptibility and in central core disease (CCD). The RyR2 mutations detected in the present study occurred in two highly conserved regions, strictly corresponding to those where mutations causing MH or CCD are clustered in the RYR1 gene. The detection of RyR2 mutations causing ARVD2, reported in this paper, opens the way to pre-symptomatic detection of carriers of the disease in childhood, thus enabling early monitoring and treatment.
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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
Self-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
Maron, B. J., Chaitman, B. R., Ackerman, M. J., Bayés de Luna, A., Corrado, D., Crosson, J. E., Deal, B. J., Driscoll, D. J., Estes, N. A. M., Araújo, C. G. S., et al. (2004) · Circulation · doi:10.1161/01.cir.0000128363.85581.e1 · Cited by 591
James, C. A., Jongbloed, J. D. H., Hershberger, R. E., Morales, A., Judge, D. P., Syrris, P., Pilichou, K., Domingo, A. M., Murray, B., Cadrin-Tourigny, J., et al. (2021) · Circulation: Genomic and Precision Medicine · doi:10.1161/circgen.120.003273 · Cited by 238
Chatterjee, D., Fatah, M., Akdis, D., Spears, D. A., Koopmann, T. T., Mittal, K., Rafiq, M. A., Cattanach, B. M., Zhao, Q., Healey, J. S., et al. (2018) · European Heart Journal · doi:10.1093/eurheartj/ehy567 · Cited by 161
James, C. A., Tichnell, C., Murray, B., Daly, A., Sears, S. F., & Calkins, H. (2012) · Circulation: Cardiovascular Genetics · doi:10.1161/circgenetics.111.960898 · Cited by 72
Hermida, A., Fressart, V., Hidden-Lucet, F., Donal, E., Probst, V., Deharo, J.-C., Chevalier, P., Klug, D., Mansencal, N., Delacretaz, E., et al. (2019) · European Journal of Heart Failure · doi:10.1002/ejhf.1423 · Cited by 71
Illicit drugs and cardiac arrhythmias in athletes
Furlanello, F., Serdoz, L. V., Cappato, R., & De Ambroggi, L. (2007) · European Journal of Cardiovascular Prevention & Rehabilitation · doi:10.1097/hjr.0b013e3280ecfe3e · Cited by 70
Wnt/β-catenin pathway in arrhythmogenic cardiomyopathy
Lorenzon, A., Calore, M., Poloni, G., De Windt, L. J., Braghetta, P., & Rampazzo, A. (2017) · Oncotarget · doi:10.18632/oncotarget.17457 · Cited by 64
Okudaira, N., Kuwahara, M., Hirata, Y., Oku, Y., & Nishio, H. (2014) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2014.08.132 · Cited by 29
Gao, S., Puthenvedu, D., Lombardi, R., & Chen, S. N. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21176320 · Cited by 28
Vanaja, I. P., Scalco, A., Ronfini, M., Bona, A. D., Olianti, C., Rizzo, S., Chelko, S. P., Corrado, D., Sacconi, L., Basso, C., et al. (2025) · The Journal of Physiology · doi:10.1113/jp286845 · Cited by 17
Metadata
- Authors
- Tiso, N.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2001-02-01
- Volume
- 10
- Issue
- 3
- Pages
- 189-194
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2129968803
- Cited by
- 806
- References
- 0
- FWCI
- 31.06
- Type
- journal article
- Language
- en
- Open access
- bronze
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