Associated Papers
Gene-based Therapies for Genetic Cardiomyopathies: Molecular Medicine for Heart Disease.
Sharma S et al.
The Canadian Journal of Cardiology, 2026
Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying RBM20 mutations.
Sun S et al.
Stem Cell Research, 2026
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
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
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 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
Similar burden of rare genetic variants in ischemic and non-ischemic dilated cardiomyopathy.
Cao L et al.
Frontiers in Cardiovascular Medicine, 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
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
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Clinical Insights in RNA-Binding Protein Motif 20 Cardiomyopathy: A Systematic Review.
Martini M et al.
Biomolecules, 2024
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants.
Cannie DE et al.
Circulation. Genomic and Precision Medicine, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3.
Kornienko J et al.
Nature Communications, 2023
Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.
Lian H et al.
Journal of Translational Medicine, 2023
Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy.
Zhang Y et al.
Jci Insight, 2023
Striated muscle-specific base editing enables correction of mutations causing dilated cardiomyopathy.
Grosch M et al.
Nature Communications, 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
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) in Cardiovascular Disease: A Comprehensive Clinical Review on Dilated Cardiomyopathy.
Ganipineni VDP et al.
Cureus, 2023
A deep learning platform to assess drug proarrhythmia risk.
Serrano R et al.
Cell Stem Cell, 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
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
Single-molecule, full-length transcript isoform sequencing reveals disease-associated RNA isoforms in cardiomyocytes.
Zhu C et al.
Nature Communications, 2021
Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.
Puckelwartz MJ et al.
Journal of the American Heart Association, 2021
Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach.
Jordà P et al.
Journal of Personalized Medicine, 2021