Associated Papers
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Early Onset Heart Failure due to RBM20 Variant: A Case Report Emphasizing Genetic Diagnosis and Arrhythmic Risk Stratification.
Porras Bueno CO et al.
Clinical Case Reports, 2026
Prime editing corrects the dilated cardiomyopathy causing RBM20-P633L-mutation in human cardiomyocytes.
Roman A et al.
Molecular Therapy. Nucleic Acids, 2025
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
Phosphorylation of CRYAB induces a condensatopathy to worsen post-myocardial infarction left ventricular remodeling.
Islam M et al.
The Journal of Clinical Investigation, 2025
RBM20 p.Arg636Cys: A Pathogenic Variant Identified in a Family with Several Cases of Unexpected Sudden Deaths.
Lorca R et al.
Journal of Clinical Medicine, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Nascent transcript O-MAP reveals the molecular architecture of a single-locus subnuclear compartment built by RBM20 and the TTN RNA.
Kania EE et al.
Biorxiv : the Preprint Server for Biology, 2024
Phosphorylation of CRYAB Induces a Condensatopathy to Worsen Post-Myocardial Infarction Left Ventricular Remodeling.
Islam M et al.
Biorxiv : the Preprint Server for Biology, 2024
Clinical Insights in RNA-Binding Protein Motif 20 Cardiomyopathy: A Systematic Review.
Martini M et al.
Biomolecules, 2024
Harnessing human genetics and stem cells for precision cardiovascular medicine.
Caudal A et al.
Cell Genomics, 2024
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.
Gregorich ZR et al.
Circulation. Genomic and Precision Medicine, 2024
Fusion of histone variants to Cas9 suppresses non-homologous end joining.
Kato-Inui T et al.
Plos One, 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
Gene editing with 'pencil' rather than 'scissors' in human pluripotent stem cells.
Park JC et al.
Stem Cell Research & Therapy, 2023
Gene editing innovations and their applications in cardiomyopathy research.
Kyriakopoulou E et al.
Disease Models & Mechanisms, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 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
Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy.
Nishiyama T et al.
Science Translational Medicine, 2022
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.
Stava TT et al.
European Journal of Preventive Cardiology, 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
Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy.
Inagaki N et al.
Human Genome Variation, 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