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Egyptian Journal of Medical Human Genetics
Fig. 4 | Egyptian Journal of Medical Human Genetics

Fig. 4

From: Whole-exome sequencing and homozygosity mapping identify variants in NCOR1 and MAP2K3 associated with non-syndromic congenital heart defects

Fig. 4

Pathway analysis in the VSD cases. When NCOR1 protein is affected, the product of the PDE9A enzyme does not get activated and thereby impairs the downstream cascade for PDE9A. PDE9A as a protein can no longer regulate natriuretic peptide that fails to stimulate and regulate cyclic guanosine monophosphate (cGMP) in heart myocytes. It leads to a series of complexities resulting in left ventricular dystrophy

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