Article
Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome.
EMBO molecular medicine - 1 Mar 2012
Ferone Giustina, Thomason Helen A, Antonini Dario, De Rosa Laura, Hu Bing, Gemei Marica, Zhou Huiqing, Ambrosio Raffaele, Rice David P, Acampora Dario, van Bokhoven Hans, Del Vecchio Luigi, Koster Maranke I, Tadini Gianluca, Spencer-Dene Bradley, Dixon Michael, Dixon Jill, Missero Caterina
Abstract excerpt
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, which is characterized by cleft palate and severe defects of the skin, is an autosomal dominant disorder caused by mutations in the gene encoding transcription factor p63. Here, we report the generation of a knock-in mouse model for AEC syndrome (p63(+/L514F) ) that recapitulates the human disorder. The AEC mutation exerts a selective...
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