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Dosage-sensitive <i>RBFOX2</i> autoregulation promotes cardiomyocyte differentiation by maturing the transcriptome

2025-10-30

Abstract excerpt

<h4>SUMMARY</h4> Haploinsufficiency of the RNA splicing regulator, RBFOX2 , is linked to congenital heart disease (CHD), yet its pathogenic mechanisms remain unclear. Here, we demonstrate that RBFOX2 is essential for progressing cardiomyocyte (CM) differentiation by shifting exon usage profiles to more mature patterns in sarcomere, cytoskeletal, and focal adhesion genes, including alpha-actinin-2 ( ACTN2 ). Th...

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Literature Corpus work
0cde1394-9436-5ba3-aac5-31c262731c5f
DOI
10.1101/2025.10.28.685214
Open publication

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Dosage-sensitive <i>RBFOX2</i> autoregulation promotes cardiomyocyte differentiation by maturing the transcriptomeDOI 10.1101/2025.10.28.685214
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