Associated Papers
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 2025
Prime editing corrects the dilated cardiomyopathy causing RBM20-P633L-mutation in human cardiomyocytes.
Roman A et al.
Molecular Therapy. Nucleic Acids, 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
Environmental Risk Factors Are Associated With the Natural History of Familial Dilated Cardiomyopathy.
Peters SA et al.
Journal of the American Heart Association, 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
Family-based NGS panel testing of cardiopathies and arrhythmic syndromes.
Hrazderova H et al.
Frontiers in Genetics, 2025
Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.
Kubanek M et al.
Esc Heart Failure, 2024
Clinical Insights in RNA-Binding Protein Motif 20 Cardiomyopathy: A Systematic Review.
Martini M et al.
Biomolecules, 2024
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ et al.
Circulation. Genomic and Precision Medicine, 2024
Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.
Pérez-Serra A et al.
International Journal of Molecular Sciences, 2024
Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies.
Eberl H et al.
Stem Cell Research, 2024
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.
Gregorich ZR et al.
Circulation. Genomic and Precision Medicine, 2024
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.
Votýpka P et al.
International Journal of Legal Medicine, 2023
Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy.
Zhang Y et al.
Jci Insight, 2023
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) in Cardiovascular Disease: A Comprehensive Clinical Review on Dilated Cardiomyopathy.
Ganipineni VDP et al.
Cureus, 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
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.
Lota AS et al.
Circulation, 2022
Molecular studies in familial dilated cardiomyopathy - A pilot study.
Mori V et al.
International Journal of Cardiology. Heart & Vasculature, 2022
Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family.
Malakootian M et al.
Bmc Medical Genomics, 2022
Pregnancy Outcomes in Females With Dilated Cardiomyopathy-Associated Rare Genetic Variants.
Peters S et al.
Circulation. Genomic and Precision Medicine, 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
Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy.
Inagaki N et al.
Human Genome Variation, 2022
RBM20-Related Cardiomyopathy: Current Understanding and Future Options.
Koelemen J et al.
Journal of Clinical Medicine, 2021
Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report.
Das S et al.
The Egyptian Heart Journal : (ehj) : Official Bulletin of the Egyptian Society of Cardiology, 2021
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach.
Jordà P et al.
Journal of Personalized Medicine, 2021
RBM20 mutation and ventricular arrhythmias in a young patient with dilated cardiomyopathy: a case report.
Liatakis I et al.
American Journal of Cardiovascular Disease, 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
Generation of pluripotent stem cell lines and CRISPR/Cas9 modified isogenic controls from a patient with dilated cardiomyopathy harboring a RBM20 p.R634W mutation.
Rebs S et al.
Stem Cell Research, 2020
Emerging role of genetic analysis for stratification of sudden cardiac death risk in dilated cardiomyopathy: An illustrative case.
Yao JV et al.
Heartrhythm Case Reports, 2020
The Emerging Role of the RBM20 and PTBP1 Ribonucleoproteins in Heart Development and Cardiovascular Diseases.
Fochi S et al.
Genes, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.
Horvat C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy.
Verdonschot JAJ et al.
Circulation. Heart Failure, 2018
RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling.
van den Hoogenhof MMG et al.
Circulation, 2018
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
Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.
Tobita T 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
Identification of MYLK3 mutations in familial dilated cardiomyopathy.
Tobita T et al.
Scientific Reports, 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
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.
Wells QS et al.
Circulation. Cardiovascular Genetics, 2013