Article
APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations.
Proceedings of the National Academy of Sciences of the United States of America - 5 Feb 2013
Shen Jinfeng, van den Bogaard Ellen H, Kouwenhoven Evelyn N, Bykov Vladimir J N, Rinne Tuula, Zhang Qiang, Tjabringa Geuranne S, Gilissen Christian, van Heeringen Simon J, Schalkwijk Joost, van Bokhoven Hans, Wiman Klas G, Zhou Huiqing
Abstract excerpt
p53 and p63 share extensive sequence and structure homology. p53 is frequently mutated in cancer, whereas mutations in p63 cause developmental disorders manifested in ectodermal dysplasia, limb defects, and orofacial clefting. We have established primary adult skin keratinocytes from ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome patients with p63 mutations as an in vitro human model to...
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