Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome

The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the C-terminal domain of the p63 gene can cause ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, a life-threatening disorder characterized by skin fragility...

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Detalles Bibliográficos
Autores principales: Russo, Claudia, Osterburg, Christian, Sirico, Anna, Antonini, Dario, Ambrosio, Raffaele, Würz, Julia Maren, Rinnenthal, Jörg, Ferniani, Marco, Kehrloesser, Sebastian, Schäfer, Birgit, Güntert, Peter, Sinha, Satrajit, Dötsch, Volker, Missero, Caterina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2018
Materias:
PNAS Plus
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798343/
https://www.ncbi.nlm.nih.gov/pubmed/29339502
http://dx.doi.org/10.1073/pnas.1713773115

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