ΔNp63 knockdown mice: A mouse model for AEC syndrome

• Main Authors: Maranke I. Koster, Barbara Marinari, Aimee S. Payne, Piranit N. Kantaputra, Antonio Costanzo, Dennis R. Roop
• 格式: 雜誌
• 出版: 2018
• 主題: Biochemistry, Genetics and Molecular Biology; Medicine
• 在線閱讀: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=69249091010&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/48855

Dominant mutations in TP63 cause ankyloblepharon ectodermal dysplasia and clefting (AEC), an ectodermal dysplasia characterized by skin fragility. Since ΔNp63α is the predominantly expressed TP63 isoform in postnatal skin, we hypothesized that mutant ΔNp63α proteins are primarily responsible for ski...