Article
DeltaNp63 knockdown mice: A mouse model for AEC syndrome.
American journal of medical genetics. Part A - 1 Sept 2009
Koster Maranke I, Marinari Barbara, Payne Aimee S, Kantaputra Piranit N, Costanzo Antonio, Roop Dennis R
Abstract excerpt
Dominant mutations in TP63 cause ankyloblepharon ectodermal dysplasia and clefting (AEC), an ectodermal dysplasia characterized by skin fragility. Since DeltaNp63alpha is the predominantly expressed TP63 isoform in postnatal skin, we hypothesized that mutant DeltaNp63alpha proteins are primarily responsible for skin fragility in AEC patients. We found that mutant DeltaNp63alpha proteins expressed in AEC patients...
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