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Improvement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1(MET)/APR-246.
Aberdam E, Roux LN, Secrétan PH, Boralevi F, Schlatter J, Morice-Picard F, Sol S, Bodemer C, Missero C, Cisternino S, Aberdam D, Hadj-Rabia S. Aberdam E, et al. Cell Death Dis. 2020 Jan 16;11(1):30. doi: 10.1038/s41419-020-2223-8. Cell Death Dis. 2020. PMID: 31949132 Free PMC article.
It controls many genes involved in cell proliferation, adhesion, and early differentiation. P63 is mutated in several rare syndromes called p63-related ectodermal dysplasia syndromes (ED). The main forms are EEC and AEC syndromes due to p63 missense mu …
It controls many genes involved in cell proliferation, adhesion, and early differentiation. P63 is mutated in several rare syndromes …
Modeling AEC-New approaches to study rare genetic disorders.
Koch PJ, Dinella J, Fete M, Siegfried EC, Koster MI. Koch PJ, et al. Am J Med Genet A. 2014 Oct;164A(10):2443-54. doi: 10.1002/ajmg.a.36455. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24665072 Free PMC article. Review.
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare monogenetic disorder that is characterized by severe abnormalities in ectoderm-derived tissues, such as skin and its appendages. ...Currently, supportive care is the only available treatmen …
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare monogenetic disorder that is characterized by sev …
Isoform-Specific Roles of Mutant p63 in Human Diseases.
Osterburg C, Osterburg S, Zhou H, Missero C, Dötsch V. Osterburg C, et al. Cancers (Basel). 2021 Jan 31;13(3):536. doi: 10.3390/cancers13030536. Cancers (Basel). 2021. PMID: 33572532 Free PMC article. Review.
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 …
The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the DNA …
Effects of TP63 mutations on keratinocyte adhesion and migration.
Salois MN, Gugger JA, Webb S, Sheldon CE, Parraga SP, Lewitt GM, Grange DK, Koch PJ, Koster MI. Salois MN, et al. Exp Dermatol. 2023 Sep;32(9):1575-1581. doi: 10.1111/exd.14885. Epub 2023 Jul 11. Exp Dermatol. 2023. PMID: 37432020
The goal of this study was to investigate the molecular mechanisms responsible for the formation of skin erosions in patients affected by Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). This ectodermal dysplasia is caused by mutations in the TP63 …
The goal of this study was to investigate the molecular mechanisms responsible for the formation of skin erosions in patients affected by An …
Epidermal cell junctions and their regulation by p63 in health and disease.
Ferone G, Mollo MR, Missero C. Ferone G, et al. Cell Tissue Res. 2015 Jun;360(3):513-28. doi: 10.1007/s00441-014-2108-1. Epub 2015 Feb 3. Cell Tissue Res. 2015. PMID: 25645146 Review.
Consistent with p63 functions in cell adhesion and in epidermal differentiation, heterozygous mutations clustered mainly in the p63 C-terminus are causative of AEC syndrome, an autosomal dominant disorder characterized by cleft palate, ankyloblepharon and ect …
Consistent with p63 functions in cell adhesion and in epidermal differentiation, heterozygous mutations clustered mainly in the p63 C …
DeltaNp63 knockdown mice: A mouse model for AEC syndrome.
Koster MI, Marinari B, Payne AS, Kantaputra PN, Costanzo A, Roop DR. Koster MI, et al. Am J Med Genet A. 2009 Sep;149A(9):1942-7. doi: 10.1002/ajmg.a.32794. Am J Med Genet A. 2009. PMID: 19681108 Free PMC article.
Indeed, downregulating DeltaNp63 expression in mouse epidermis caused severe skin erosions, which resembled lesions that develop in AEC patients. ...The development of a mouse model for AEC will allow us to further unravel the genetic pathways that are normal …
Indeed, downregulating DeltaNp63 expression in mouse epidermis caused severe skin erosions, which resembled lesions that develop in …
Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome.
Russo C, Osterburg C, Sirico A, Antonini D, Ambrosio R, Würz JM, Rinnenthal J, Ferniani M, Kehrloesser S, Schäfer B, Güntert P, Sinha S, Dötsch V, Missero C. Russo C, et al. Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):E906-E915. doi: 10.1073/pnas.1713773115. Epub 2018 Jan 16. Proc Natl Acad Sci U S A. 2018. PMID: 29339502 Free PMC article.
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 …
The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the C-te …
Effects of TP63 Mutations on Keratinocyte Adhesion and Migration.
Salois MN, Gugger JA, Webb S, Sheldon CE, Parraga SP, Lewitt GM, Grange DK, Koch PJ, Koster MI. Salois MN, et al. bioRxiv [Preprint]. 2023 Jun 22:2023.05.04.539104. doi: 10.1101/2023.05.04.539104. bioRxiv. 2023. PMID: 37205354 Free PMC article. Updated. Preprint.
The goal of this study was to investigate the molecular mechanisms responsible for the formation of skin erosions in patients affected by Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). This ectodermal dysplasia is caused by mutations in the TP63 …
The goal of this study was to investigate the molecular mechanisms responsible for the formation of skin erosions in patients affected by An …
International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.
Fete M, vanBokhoven H, Clements SE, McKeon F, Roop DR, Koster MI, Missero C, Attardi LD, Lombillo VA, Ratovitski E, Julapalli M, Ruths D, Sybert VP, Siegfried EC, Bree AF. Fete M, et al. Am J Med Genet A. 2009 Sep;149A(9):1885-93. doi: 10.1002/ajmg.a.32761. Am J Med Genet A. 2009. PMID: 19353643 Free PMC article.
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. ...It was this fact that led to the 2003 AEC Skin Erosion Workshop. That conference …
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosoma …
Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63.
Zarnegar BJ, Webster DE, Lopez-Pajares V, Vander Stoep Hunt B, Qu K, Yan KJ, Berk DR, Sen GL, Khavari PA. Zarnegar BJ, et al. Am J Hum Genet. 2012 Sep 7;91(3):435-43. doi: 10.1016/j.ajhg.2012.07.007. Epub 2012 Aug 23. Am J Hum Genet. 2012. PMID: 22922031 Free PMC article.
The basis for impaired differentiation in TP63 mutant ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is unknown. Human epidermis harboring AEC TP63 mutants recapitulated this impairment, along with downregulation of differentiation activa …
The basis for impaired differentiation in TP63 mutant ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is unknown. …
32 results