Associated Papers
Impaired retinoic acid signaling mediated Rbm20 downregulation induces aberrant splicing of CaV1.2 calcium channel: implications in myocardial hypertrophy.
Song X et al.
Journal of Molecular and Cellular Cardiology, 2026
Titin Cardiomyopathy, Emerging Evidence: More Than A Big Heart.
Angriman F et al.
Current Cardiology Reports, 2025
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
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Prime Editing Corrects Multiple Mutations in the RSRSP Region of the RBM20 Gene Using a Single Prime Editing Guide RNA.
Nishiyama T
Jma Journal, 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
Pathogenic mutations of human phosphorylation sites affect protein-protein interactions.
Rrustemi T et al.
Nature Communications, 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
Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction.
Korover N et al.
Biological Research, 2023
Post-Transcriptional Modification by Alternative Splicing and Pathogenic Splicing Variants in Cardiovascular Development and Congenital Heart Defects.
Mehta Z et al.
International Journal of Molecular Sciences, 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
Proteome-wide quantitative RNA-interactome capture identifies phosphorylation sites with regulatory potential in RBM20.
Vieira-Vieira CH et al.
Molecular Cell, 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
A quantitative RT-PCR protocol to adapt and quantify RBM20-dependent exon splicing of targets at the human locus.
Rebs S et al.
Star Protocols, 2022
Dilated cardiomyopathy: a new insight into the rare but common cause of heart failure.
Giri P et al.
Heart Failure Reviews, 2022
Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies.
Fenix AM et al.
Nature Communications, 2021
RBM20-Related Cardiomyopathy: Current Understanding and Future Options.
Koelemen J et al.
Journal of Clinical Medicine, 2021
Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy.
Li M et al.
Journal of Translational Medicine, 2021
Titin Circular RNAs Create a Back-Splice Motif Essential for SRSF10 Splicing.
Tijsen AJ et al.
Circulation, 2021
Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.
My I 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
A missense mutation in the RSRSP stretch of Rbm20 causes dilated cardiomyopathy and atrial fibrillation in mice.
Ihara K et al.
Scientific Reports, 2020
New Insights in RBM20 Cardiomyopathy.
Lennermann D et al.
Current Heart Failure Reports, 2020
Modelling sarcomeric cardiomyopathies with human cardiomyocytes derived from induced pluripotent stem cells.
Sewanan LR et al.
The Journal of Physiology, 2020
The Emerging Role of the RBM20 and PTBP1 Ribonucleoproteins in Heart Development and Cardiovascular Diseases.
Fochi S et al.
Genes, 2020
Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy.
Pioner JM et al.
Frontiers in Physiology, 2020
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
Brodehl A et al.
International Journal of Molecular Sciences, 2019
Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization.
Murayama R et al.
Scientific Reports, 2018
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
Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy.
Sedaghat-Hamedani F et al.
European Heart Journal, 2017
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
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Klauke B et al.
Plos One, 2017
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.
Beqqali A et al.
Cardiovascular Research, 2016
Delineating RBM20 regulation of alternative splicing in dilated cardiomyopathy.
Arrell DK
Circulation. Cardiovascular Genetics, 2014
RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing.
Maatz H et al.
The Journal of Clinical Investigation, 2014
King of hearts: a splicing factor rules cardiac proteins.
Linke WA et al.
Nature Medicine, 2012
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