Isoform-Specific Roles of Mutant p63 in Human Diseases.
Cancers (Basel)
; 13(3)2021 Jan 31.
Article
en En
| MEDLINE
| ID: mdl-33572532
ABSTRACT
The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the DNA binding domain cause Ectrodactyly, Ectodermal Dysplasia, characterized by limb deformation, cleft lip/palate, and ectodermal dysplasia while mutations in in the C-terminal domain of the α-isoform cause Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome, a life-threatening disorder characterized by skin fragility, severe, long-lasting skin erosions, and cleft lip/palate. The molecular disease mechanisms of these syndromes have recently become elucidated and have enhanced our understanding of the role of p63 in epidermal development. Here we review the molecular cause and functional consequences of these p63-mutations for skin development and discuss the consequences of p63 mutations for female fertility.
Texto completo:
1
Colección:
01-internacional
Idioma:
En
Revista:
Cancers (Basel)
Año:
2021
Tipo del documento:
Article
País de afiliación:
Alemania