Associated Papers
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome-Linked p63 Mutations Disrupt Keratinocyte Proliferation and Survival Through Oxidative Stress and Impaired Slc7a11 Expression.
Di Girolamo D et al.
International Journal of Molecular Sciences, 2025
Molecular and Cellular Function of p63 in Skin Development and Genetic Diseases.
Di Girolamo D et al.
The Journal of Investigative Dermatology, 2025
Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.
Boncimino F et al.
Cell Death Discovery, 2025
Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree.
Osterburg C et al.
Cell Death & Disease, 2023
Structural diversity of p63 and p73 isoforms.
Osterburg C et al.
Cell Death and Differentiation, 2022
Isoform-Specific Roles of Mutant p63 in Human Diseases.
Osterburg C et al.
Cancers, 2021
The p63 C-terminus is essential for murine oocyte integrity.
Lena AM et al.
Nature Communications, 2021
Master regulatory role of p63 in epidermal development and disease.
Soares E et al.
Cellular and Molecular Life Sciences : Cmls, 2018
Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome.
Russo C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Epidermal cell junctions and their regulation by p63 in health and disease.
Ferone G et al.
Cell and Tissue Research, 2015
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis.
Mollo MR et al.
Experimental Dermatology, 2015
Modeling AEC-New approaches to study rare genetic disorders.
Koch PJ et al.
American Journal of Medical Genetics. Part A, 2014
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
Delineating Molecular Mechanisms of Squamous Tissue Homeostasis and Neoplasia: Focus on p63.
King KE et al.
Journal of Skin Cancer, 2013
Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.
Clements SE et al.
The British Journal of Dermatology, 2012
Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome.
Ferone G et al.
Embo Molecular Medicine, 2012
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
Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis.
Beaudry VG et al.
American Journal of Medical Genetics. Part A, 2009
Pattern of p63 mutations and their phenotypes--update.
Rinne T et al.
American Journal of Medical Genetics. Part A, 2006
AEC-associated p63 mutations lead to alternative splicing/protein stabilization of p63 and modulation of Notch signaling.
Huang YP et al.
Cell Cycle (georgetown, Tex.), 2005
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