Eur Heart J, 2019;40(Supplement_1):ehz746.0023. doi:10.1093/eurheartj/ehz746.0023
Genome-wide association studies identified SPLIT ENDS (SPEN) gene as an interesting candidate in the pathogenesis of heart failure. SPEN is known to be of importance in transcriptional regulation in several pathways and knockout in mice results in severe cardiac structural abnormalities and premature intrauterine lethality. Moreover, SPEN was associated with human 1.36 syndrome and is located in the critical region for congenital heart defects. Hence, spen seems to be of importance in cardiac physiology, but not much is known about its biologic function in the heart.
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