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Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach

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dc.contributor.authorJordà, Paloma
dc.contributor.authorToro, Rocío
dc.contributor.authorDiez, Carles
dc.contributor.authorSalazar-Mendiguchía, Joel
dc.contributor.authorFernandez-Falgueras, Anna
dc.contributor.authorPerez-Serra, Alexandra
dc.contributor.authorColl, Monica
dc.contributor.authorPuigmulé, Marta
dc.contributor.authorArbelo, Elena
dc.contributor.authorGarcía-Álvarez, Ana
dc.contributor.authorSarquella-Brugada, Georgia
dc.contributor.authorCesar, Sergi
dc.contributor.authorTiron, Coloma
dc.contributor.authorIglesias, Anna
dc.contributor.authorBrugada, Josep
dc.contributor.authorBrugada, Ramon
dc.contributor.authorCampuzano, Oscar
dc.contributor.authoraffiliation[Jordà,P; Arbelo,E; García-Álvarez,A; Brugada,J] Cardiology Department, Hospital Clinic, University of Barcelona-IDIBAPS, Barcelona, Spain. [Toro,R] Medicine Department, School of Medicine, University of Cadiz, Cadiz, Spain. [Toro,R] Biomedical Research and Innovation Institute of Cadiz (INiBICA), Cadiz, Spain. [Diez,C; Salazar-Mendiguchía,J] Cardiovascular Diseases Research Group Bellvitge Biomedical Research Institute (IDIBELL) Hospitalet de Llobregat, Barcelona, Spain. [Diez,C] Advanced Heart Failure and Heart Transplant Unit Department of Cardiology Bellvitge University Hospital Hospitalet de Llobregat, Barcelona, Spain. [Fernandez-Falgueras,A; Perez-Serra,A; Coll,M; Puigmulé,M; Iglesias,A; Brugada,R; Campuzano,O] Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain. [Perez-Serra,A; Arbelo,E; Brugada,J; Brugada,R; Campuzano,O] Centro de Investigación Biomédica en Red Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain. [Sarquella-Brugada,G; Cesar,S; Brugada,J; Campuzano,O] Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain. [Sarquella-Brugada,G; Brugada,R; Campuzano,O] Medical Science Department, School of Medicine, University of Girona, Girona, Spain. [Tiron,C; Brugada,R] Cardiology Service, Hospital Josep Trueta, University of Girona, Girona, Spain.
dc.contributor.funderThis 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.
dc.date.accessioned2022-09-12T10:41:42Z
dc.date.available2022-09-12T10:41:42Z
dc.date.issued2021-02-15
dc.description.abstractThe 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.es_ES
dc.description.versionYeses_ES
dc.identifier.citationJordà P, Toro R, Diez C, Salazar-Mendiguchía J, Fernandez-Falgueras A, Perez-Serra A, et al. Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach. J Pers Med. 2021 Feb 15;11(2):130es_ES
dc.identifier.doi10.3390/jpm11020130es_ES
dc.identifier.essn2075-4426
dc.identifier.pmcPMC7918949
dc.identifier.pmid33671899es_ES
dc.identifier.urihttp://hdl.handle.net/10668/4034
dc.journal.titleJournal of Personalized Medicine
dc.language.isoen
dc.page.number17 p.
dc.publisherMDPIes_ES
dc.relation.publisherversionhttps://www.mdpi.com/2075-4426/11/2/130/htmes_ES
dc.rightsAtribución 4.0 Internacional*
dc.rights.accessRightsAcceso abiertoes_ES
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectSudden cardiac deathes_ES
dc.subjectArrhythmiaes_ES
dc.subjectDilated cardiomyopathyes_ES
dc.subjectGeneticses_ES
dc.subjectRBM20es_ES
dc.subjectMuerte súbita cardíacaes_ES
dc.subjectArritmias cardíacases_ES
dc.subjectCardiomiopatía dilatadaes_ES
dc.subjectGenéticaes_ES
dc.subjectSupresión genéticaes_ES
dc.subject.meshMedical Subject Headings::Diseases::Cardiovascular Diseases::Heart Diseases::Cardiomyopathieses_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::RNA Processing, Post-Transcriptional::RNA Splicing::Alternative Splicinges_ES
dc.subject.meshMedical Subject Headings::Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiaces_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotypees_ES
dc.subject.meshMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Nucleoproteins::RNA-Binding Proteinses_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation::RNA Processing, Post-Transcriptional::RNA Splicinges_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotypees_ES
dc.subject.meshMedical Subject Headings::Anatomy::Musculoskeletal System::Muscleses_ES
dc.subject.meshMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humanses_ES
dc.titleMalignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approaches_ES
dc.typereview article
dc.type.hasVersionVoR
dspace.entity.typePublication

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