TY  - JOUR
A1  - Osterburg, Christian
A1  - Osterburg, Susanne Gabriele
A1  - Zhou, Huiqing
A1  - Missero, Caterina
A1  - Dötsch, Volker
T1  - Isoform-specific roles of mutant p63 in human diseases
T2  - Cancers
N2  - 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.
KW  - p63
KW  - EEC syndrome
KW  - AEC syndrome
KW  - stratified epithelial tissues
KW  - enhancer
KW  - chromatin remodeling
KW  - transcriptional regulation
KW  - fertility
KW  - epidermis
KW  - aggregation
Y1  - 2021
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/61763
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-617630
SN  - 2072-6694
VL  - 13
IS  - 3, art. 536
SP  - 1
EP  - 18
PB  - MDPI
CY  - Basel
ER  -