Associated Papers
Therapeutic p63 isoform switching rescues epidermal defects in AEC syndrome.
Di Girolamo D et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree.
Osterburg C et al.
Cell Death & Disease, 2023
Isoform-Specific Roles of Mutant p63 in Human Diseases.
Osterburg C et al.
Cancers, 2021
Epidermal cell junctions and their regulation by p63 in health and disease.
Ferone G et al.
Cell and Tissue Research, 2015
APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations.
Shen J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.
Ferone G et al.
Human Molecular Genetics, 2013
Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias.
Browne G et al.
Journal of Cell Science, 2011
Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.
Clements SE et al.
The British Journal of Dermatology, 2010
Embryonic stem cells as an ectodermal cellular model of human p63-related dysplasia syndromes.
Rostagno P et al.
Biochemical and Biophysical Research Communications, 2010
Pattern of p63 mutations and their phenotypes--update.
Rinne T et al.
American Journal of Medical Genetics. Part A, 2006
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.
Bertola DR et al.
Clinical Genetics, 2004
Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.
Sawardekar SS et al.
Pediatric Dermatology, 0
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