RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

Alternative splicing plays a major role in the adaptation of cardiac function exemplified by the isoform switch of titin, which adjusts ventricular filling. We previously identified a rat strain deficient in titin splicing. Using genetic mapping, we found a loss-of-function mutation in RBM20 as the...

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Autores principales: Guo, Wei, Schafer, Sebastian, Greaser, Marion L., Radke, Michael H., Liss, Martin, Govindarajan, Thirupugal, Maatz, Henrike, Schulz, Herbert, Li, Shijun, Parrish, Amanda M., Dauksaite, Vita, Vakeel, Padmanabhan, Klaassen, Sabine, Gerull, Brenda, Thierfelder, Ludwig, Regitz-Zagrosek, Vera, Hacker, Timothy A., Saupe, Kurt W., Dec, G. William, Ellinor, Patrick T., MacRae, Calum A., Spallek, Bastian, Fischer, Robert, Perrot, Andreas, Özcelik, Cemil, Saar, Kathrin, Hubner, Norbert, Gotthardt, Michael
Formato: Artigo
Lenguaje:Inglês
Publicado: 2012
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3569865/
https://ncbi.nlm.nih.gov/pubmed/22466703
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nm.2693
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