Article
p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.
Human molecular genetics - 1 Feb 2013
Ferone Giustina, Mollo Maria Rosaria, Thomason Helen A, Antonini Dario, Zhou Huiqing, Ambrosio Raffaele, De Rosa Laura, Salvatore Domenico, Getsios Spiro, van Bokhoven Hans, Dixon Jill, Missero Caterina
Abstract excerpt
Ankyloblepharon, ectodermal defects, cleft lip/palate (AEC) syndrome is a rare autosomal dominant disorder caused by mutations in the p63 gene, essential for embryonic development of stratified epithelia. The most severe cutaneous manifestation of this disorder is the long-lasting skin fragility associated with severe skin erosions after birth. Using a knock-in mouse model for AEC syndrome, we found that skin...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.