DUGiDocsMalignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach
dc.contributor.author
dc.date.accessioned
2021-02-18T09:33:31Z
dc.date.available
2021-02-18T09:33:31Z
dc.date.issued
2021-02-15
dc.identifier.issn
2075-4426
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dc.description.abstract
The RBM20 gene encodes the muscle-specific splicing factor RNA-binding motif 20, a regulator of heart-specific alternative splicing. Nearly 40 potentially deleterious variants in RBM20 have been reported in the last ten years, being found to be associated with highly arrhythmogenic events in familial dilated cardiomyopathy. Frequently, malignant arrhythmias can be a primary manifestation of disease. The early recognition of arrhythmic genotypes is crucial in avoiding lethal episodes, as it may have an impact on the adoption of personalized preventive measures. Our study performs a comprehensive update of data concerning rare variants in RBM20 that are associated with malignant arrhythmogenic phenotypes with a focus on personalized medicine
dc.description.sponsorship
This work was supported by Obra Social “La Caixa Foundation” (LCF/PR/GN16/50290001
and LCF/PR/GN19/50320002), Fondo Investigacion Sanitaria (FIS PI16/01203 and FIS, PI17/01690) from Instituto Salud Carlos III (ISCIII), and “Fundacio Privada Daniel Bravo Andreu”. CIBERCV is an initiative of the ISCIII, Spanish Ministry of Economy and Competitiveness
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application/pdf
dc.language.iso
eng
dc.publisher
MDPI (Multidisciplinary Digital Publishing Institute)
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Reproducció digital del document publicat a: https://doi.org/10.3390/jpm11020130
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Journal of Personalized Medicine, 2021, vol. 11, núm. 2, p. 130
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Articles publicats (D-CM)
dc.rights
Attribution 4.0 International
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dc.subject
dc.title
Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach
dc.type
info:eu-repo/semantics/article
dc.rights.accessRights
info:eu-repo/semantics/openAccess
dc.type.version
info:eu-repo/semantics/publishedVersion
dc.identifier.doi
dc.identifier.idgrec
033942
dc.type.peerreviewed
peer-reviewed