{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T17:52:10Z","timestamp":1789667530393,"version":"4.0.1"},"reference-count":65,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2021,9,11]],"date-time":"2021-09-11T00:00:00Z","timestamp":1631318400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Splice regulators play an essential role in the transcriptomic diversity of all eukaryotic cell types and organ systems. Recent evidence suggests a contribution of splice-regulatory networks in many diseases, such as cardiomyopathies. Adaptive splice regulators, such as RNA-binding motif protein 20 (RBM20) determine the physiological mRNA landscape formation, and rare variants in the RBM20 gene explain up to 6% of genetic dilated cardiomyopathy (DCM) cases. With ample knowledge from RBM20-deficient mice, rats, swine and induced pluripotent stem cells (iPSCs), the downstream targets and quantitative effects on splicing are now well-defined and the prerequisites for corrective therapeutic approaches are set. This review article highlights some of the recent advances in the field, ranging from aspects of granule formation to 3D genome architectures underlying RBM20-related cardiomyopathy. Promising therapeutic strategies are presented and put into context with the pathophysiological characteristics of RBM20-related diseases.<\/jats:p>","DOI":"10.3390\/jcm10184101","type":"journal-article","created":{"date-parts":[[2021,9,12]],"date-time":"2021-09-12T21:45:57Z","timestamp":1631483157000},"page":"4101","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":55,"title":["RBM20-Related Cardiomyopathy: Current Understanding and Future Options"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4760-7582","authenticated-orcid":false,"given":"Jan","family":"Koelemen","sequence":"first","affiliation":[{"name":"Department of Internal Medicine III, University of Heidelberg, 69120 Heidelberg, Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), Partner Site Heidelberg, 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Gotthardt","sequence":"additional","affiliation":[{"name":"DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, 10117 Berlin, Germany"},{"name":"Neuromuscular and Cardiovascular Cell Biology, Max Delbr\u00fcck Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany"},{"name":"Charit\u00e9-Universit\u00e4tsmedizin Berlin, 13353 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars M.","family":"Steinmetz","sequence":"additional","affiliation":[{"name":"DZHK (German Centre for Cardiovascular Research), Partner Site Heidelberg, 69120 Heidelberg, Germany"},{"name":"Department of Genetics and Stanford Genome Technology Center, Stanford University, Palo Alto, CA 94304, USA"},{"name":"Genome Biology Unit, European Molecular Biology Laboratory (EMBL), 69117 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Meder","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine III, University of Heidelberg, 69120 Heidelberg, Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), Partner Site Heidelberg, 69120 Heidelberg, Germany"},{"name":"Department of Genetics and Stanford Genome Technology Center, Stanford University, Palo Alto, CA 94304, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/j.jacc.2009.05.038","article-title":"Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy","volume":"54","author":"Brauch","year":"2009","journal-title":"J. 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