Article

Porcn is essential for growth and invagination of the mammalian optic cup

2022-09-02

Abstract excerpt

Microphthalmia, anophthalmia, and coloboma (MAC) are congenital ocular malformations causing 25% of childhood blindness. The X-linked disorder Focal Dermal Hypoplasia is frequently associated with MAC and results from mutations in Porcn , a membrane bound O-acyl transferase required for palmitoylation of Wnts to activate multiple Wnt-dependent pathways. Wnt/β-catenin signaling is suppressed in the anterior neural...

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Literature Corpus work: 85bc1345-9914-5695-af06-3cdfc0861b8a
DOI: 10.1101/2022.09.01.506058

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