p63 in Skin Development and Ectodermal Dysplasias
Open accessAbstract
The transcription factor p63 is critically important for skin development and maintenance. Processes that require p63 include epidermal lineage commitment, epidermal differentiation, cell adhesion, and basement membrane formation. Not surprisingly, alterations in the p63 pathway underlie a subset of ectodermal dysplasias, developmental syndromes in which the skin and skin appendages do not develop normally. This review summarizes the current understanding of the role of p63 in normal development and ectodermal dysplasias.
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Many genes involved in ectodermal dysplasias act in shared molecular pathways important for ectodermal derivative development, including NFkB, WNT, and TP63.
“Further, it is now clear that many of the genes affected in EDs function in common molecular pathways that are known to be of importance in development of the ectodermal derivatives (e.g. NFkB “nuclear factor kappa-B”, WNT, TP63 pathways).[Cluzeau and others 2011; Kantaputra and Carlson 2018; Koster 2010]”
From Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. (2019) · cites this paper as Koster 2010
The section on developmental disorders caused by alterations in the p63 pathway says that mutations in p63 and its target genes can produce related developmental disorders, supporting the TP63 portion of the claim. The passages from our copy do not establish the broader claim about NFkB and WNT pathways; searches for those pathways did not find supporting discussion. No page numbers are supplied in our copy. (LLM, conf=0.87)
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“, TP63 pathway-associated phenotypes include features such as cleft lip/palate and hand/foot malformations) (Koster, 2010; Vera-Carbonell et al., 2012).”
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- Authors
- Koster, M. I.
- Affiliations
- University of Colorado Denver (US)
- Corresponding author
- Koster, Maranke I.
- ORCID
- Koster, Maranke I.
- Venue
- Journal of Investigative Dermatology
- Publisher
- Elsevier BV
- Published
- 2010-10
- Volume
- 130
- Issue
- 10
- Pages
- 2352-2358
- ISSN
- 0022-202X (ISSN-L)
- PMC
- PMC2919658
- OpenAlex
- W1974834619
- Cited by
- 100
- References
- 80
- Citations by year
- 2026: 6 · 2025: 3 · 2024: 5 · 2023: 5 · 2022: 3 · 2021: 6 · 2020: 2 · 2019: 6 · 2018: 10 · 2017: 3 · 2016: 8 · 2015: 11 · 2014: 12 · 2013: 4 · 2012: 9
- FWCI
- 0.56
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Journal of Investigative Dermatology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- American Skin Association
- National Foundation for Ectodermal Dysplasias
- National Institutes of Health (AR054696)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Health Sciences › Medicine › Urology › Hair Growth and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
- Keywords
- p63, skin development, ectodermal dysplasia, epidermal differentiation, basement membrane formation, cell adhesion, skin appendages, transcription factors
- MeSH terms
- Ectoderm, Ectodermal Dysplasia, Humans, Membrane Proteins
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