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- W3049272392 endingPage "246" @default.
- W3049272392 startingPage "234" @default.
- W3049272392 abstract "Abstract Purpose of Review This review aims to give an update on recent findings related to the cardiac splicing factor RNA-binding motif protein 20 (RBM20) and RBM20 cardiomyopathy, a form of dilated cardiomyopathy caused by mutations in RBM20 . Recent Findings While most research on RBM20 splicing targets has focused on titin ( TTN) , multiple studies over the last years have shown that other splicing targets of RBM20 including Ca 2+ /calmodulin-dependent kinase IIδ ( CAMK2D ) might be critically involved in the development of RBM20 cardiomyopathy. In this regard, loss of RBM20 causes an abnormal intracellular calcium handling, which may relate to the arrhythmogenic presentation of RBM20 cardiomyopathy. In addition, RBM20 presents clinically in a highly gender-specific manner, with male patients suffering from an earlier disease onset and a more severe disease progression. Summary Further research on RBM20, and treatment of RBM20 cardiomyopathy, will need to consider both the multitude and relative contribution of the different splicing targets and related pathways, as well as gender differences." @default.
- W3049272392 created "2020-08-21" @default.
- W3049272392 creator A5037102400 @default.
- W3049272392 creator A5059429011 @default.
- W3049272392 creator A5070951638 @default.
- W3049272392 date "2020-08-13" @default.
- W3049272392 modified "2023-10-14" @default.
- W3049272392 title "New Insights in RBM20 Cardiomyopathy" @default.
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