Article
Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy.
American journal of physiology. Heart and circulatory physiology - 1 Dec 2022
Lennermann David C, Pepin Mark E, Grosch Markus, Konrad Laura, Kemmling Elena, Hartmann Joshua, Nolte Janica L, Clauder-Münster Sandra, Kayvanpour Elham, Sedaghat-Hamedani Farbod, Haas Jan, Meder Benjamin, van den Boogaard Malou, Amin Ahmad S, Dewenter Matthias, Krüger Marcus, Steinmetz Lars M, Backs Johannes, van den Hoogenhof Maarten M G
Abstract excerpt
RBM20 cardiomyopathy is an arrhythmogenic form of dilated cardiomyopathy caused by mutations in the splicing factor RBM20. A recent study found a more severe phenotype in male patients with RBM20 cardiomyopathy patients than in female patients. Here, we aim to determine sex differences in an animal model of RBM20 cardiomyopathy and investigate potential underlying mechanisms. In addition, we aim to determine sex...
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