Associated Papers
High incidence of malignant arrhythmias and heart failure in patients with RBM20-associated cardiomyopathy: A multicenter cohort study and review of the literature.
Tukker M et al.
International Journal of Cardiology, 2025
Integrated proteomics and transcriptomics analysis reveals insights into differences in premature mortality associated with disparate pathogenic RBM20 variants.
Gregorich ZR et al.
Journal of Molecular and Cellular Cardiology, 2024
Clinical Insights in RNA-Binding Protein Motif 20 Cardiomyopathy: A Systematic Review.
Martini M et al.
Biomolecules, 2024
Cardiomyopathy in children: a single-centre, retrospective study of genetic and clinical characteristics.
Sun Q et al.
Bmj Paediatrics Open, 2024
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.
Gregorich ZR et al.
Circulation. Genomic and Precision Medicine, 2024
Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3.
Kornienko J et al.
Nature Communications, 2023
Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy.
Zhang Y et al.
Jci Insight, 2023
Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy.
Lennermann DC et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2022
I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy.
Yamamoto T et al.
Journal of Molecular Medicine (berlin, Germany), 2022
Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family.
Malakootian M et al.
Bmc Medical Genomics, 2022
RBM20 phosphorylation and its role in nucleocytoplasmic transport and cardiac pathogenesis.
Zhang Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2022
RBM20S639G mutation is a high genetic risk factor for premature death through RNA-protein condensates.
Wang C et al.
Journal of Molecular and Cellular Cardiology, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
RBM20-Related Cardiomyopathy: Current Understanding and Future Options.
Koelemen J et al.
Journal of Clinical Medicine, 2021
Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach.
Jordà P et al.
Journal of Personalized Medicine, 2021
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Gaertner A et al.
Human Mutation, 2020
New Insights in RBM20 Cardiomyopathy.
Lennermann D et al.
Current Heart Failure Reports, 2020
Whole-exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non-compaction cardiomyopathy.
Sun Q et al.
Pediatric Investigation, 2020
Muscle-Specific Mis-Splicing and Heart Disease Exemplified by RBM20.
Rexiati M et al.
Genes, 2018
Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy.
Zahr HC et al.
Frontiers in Genetics, 2018
Alternative Splicing Regulator RBM20 and Cardiomyopathy.
Watanabe T et al.
Frontiers in Molecular Biosciences, 2018
Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes.
Streckfuss-Bömeke K et al.
Journal of Molecular and Cellular Cardiology, 2017
Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells.
Wyles SP et al.
Human Molecular Genetics, 2016
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.
Wells QS et al.
Circulation. Cardiovascular Genetics, 2013
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
Guo W et al.
Nature Medicine, 2012
[LMNA gene and dilated cardiomyopathy].
Sun LP et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2009
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.
Brauch KM et al.
Journal of the American College of Cardiology, 2009
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
Millat G et al.
European Journal of Medical Genetics, 0