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Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach
- Publication Year :
- 2021
- Publisher :
- MDPI, 2021.
-
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. Yes
- Subjects :
- RBM20
Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings]
Anatomy::Musculoskeletal System::Muscles [Medical Subject Headings]
Dilated cardiomyopathy
Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Nucleoproteins::RNA-Binding Proteins [Medical Subject Headings]
Supresión genética
Genética
Arritmias cardíacas
Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]
Sudden cardiac death
Cardiomiopatía dilatada
Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac [Medical Subject Headings]
Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation::RNA Processing, Post-Transcriptional::RNA Splicing [Medical Subject Headings]
Muerte súbita cardíaca
Diseases::Cardiovascular Diseases::Heart Diseases::Cardiomyopathies [Medical Subject Headings]
Genetics
Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]
Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::RNA Processing, Post-Transcriptional::RNA Splicing::Alternative Splicing [Medical Subject Headings]
Arrhythmia
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.od......2636..a24bea9656ad530c2e2376dccd6c95bb