8 citations
,
November 2020 in “Nature Communications” This study demonstrates that Tp63-expressing epithelial stem cells from non-skin tissues can respond to skin morphogenetic signals and contribute to the formation of hair follicles, sebaceous glands, and epidermis.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
38 citations
,
April 2017 in “PLOS Genetics” This study found that human progenitor keratinocytes form unique complements of enhancers and super-enhancers during differentiation and migration, influencing gene expression and skin disease variant enrichment.
25 citations
,
September 2005 in “Journal of the American Academy of Dermatology” This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.
18 citations
,
August 2015 in “International Journal of Molecular Sciences” This study developed an efficient method for isolating and enriching multipotent ovine hair follicle stem cells, which may aid in research on the ovine hair cycle and future wool production.
1 citations
,
January 2018 in “Indian dermatology online journal” This case report describes a girl diagnosed with ADULT syndrome, highlighting its rarity, varied presentation, and the importance of early diagnosis to prevent unnecessary stress and medical expenses.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
March 2026 in “Experimental Dermatology” This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
February 2025 in “Journal of Paediatrics and Child Health” In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.
7 citations
,
January 2024 in “Cancer Research Communications” This study found that TAp63 and ΔNp63 isoforms in the p63 family interact with different transcription factors to regulate distinct transcriptional programs, affecting various biological functions like metabolic pathways, oxidative stress response, and epithelial morphogenesis in mouse epidermal cells.
July 2025 in “PNAS Nexus” This study integrated single-cell RNA-seq data from four previous studies to create a comprehensive human corneal cell state meta-atlas, revealing novel marker genes, rare cell states, and distinct transcription factors, and offering a tool to enhance future cornea research.
March 2026 in “Cell Death Discovery” In this comprehensive review, researchers examine the p63 gene's crucial role in skin development and pathology, highlighting its regulation of cell processes and its potential therapeutic implications for disorders like ectodermal dysplasia.
54 citations
,
October 2023 in “Oncogene” In this review, the researchers detailed how the p63 transcription factor influences epithelial stem cell activities such as self-renewal, differentiation, and proliferation, highlighting the role of TAp63 and ΔNp63 isoforms in both normal tissue development and cancer pathogenesis.
157 citations
,
October 2002 in “Journal of Cutaneous Pathology” This study suggests that p63 is consistently expressed in the basal cells of the skin and may influence differentiation and the development of common skin carcinomas.
March 2010 in “European Journal of Cancer Supplements”
5 citations
,
January 2022 in “PloS one” This study found that lineage-restricted loss of p63 in murine thymic epithelial cells resulted in severe thymic hypoplasia and absence of hair follicles, indicating p63's critical role in thymic and hair follicle development.
29 citations
,
October 2016 in “Cell death and differentiation” This study found that in squamous cell carcinomas, the inhibition of the tumor-suppressor function of TAp73β by ΔNp63α occurs through promoter squelching, not direct protein interaction.
16 citations
,
September 2006 in “Journal of Cutaneous Pathology” This study found that the p63 transcription factor is expressed during rat epidermal development and may serve as a specific marker for keratinocyte progenitor cells.
82 citations
,
December 2011 in “Journal of Biological Chemistry” This study discovered that a network controlled by the gene p63 is crucial for keratinocyte differentiation and is linked to MYC through cell adhesion-related pathways.
April 2018 in “Journal of Investigative Dermatology” This study found that the protein p63 requires morphogenetic signals to regulate gene expression effectively during skin cell differentiation, highlighting its complex role in therapeutic reprogramming for conditions like epidermolysis bullosa.
93 citations
,
June 2011 in “Journal of Neuroscience” This study found that the transcription factor p63 is crucial for horizontal basal cell differentiation in the olfactory epithelium, suggesting a p63-dependent mechanism activates reserve stem cells after injury.
166 citations
,
September 2011 in “The Journal of Cell Biology” This study found that the p63 transcription factor plays a role in epidermal morphogenesis by regulating Satb1 expression, impacting chromatin architecture and gene expression in epidermal progenitor cells.
11 citations
,
November 2015 in “Experimental Dermatology” This study reported that IL-6/STAT3 signaling influences p63 isoform expression in keratinocytes and is involved in wound-induced hair follicle neogenesis, highlighting the interplay between immune and developmental pathways.
January 2009 in “OhioLink ETD Center (Ohio Library and Information Network)” This study found that p63 and p73 regulate the vitamin D receptor (VDR), with p63 influencing cancer cell behaviors and p73 playing a role in vitamin D-mediated differentiation.
33 citations
,
February 2012 in “British Journal of Dermatology” This study found significant changes in gene expression related to skin structure and signaling pathways in AEC syndrome skin, offering new insights into the syndrome's molecular underpinnings.
8 citations
,
January 2014 in “Annals of Dermatology” This study found that TGF-β1 expression in follicular tumors correlates with differentiation degree and suggests its potential role alongside p63 in differentiating between sebaceous and follicular tumors.
19 citations
,
December 2015 in “Journal of Investigative Dermatology” This study found that keratin 17 expression is initially down-regulated and later strongly up-regulated by ionizing radiation in a rat model, with p53 repressing early transcription.
34 citations
,
July 2009 in “Journal of Cell Science” This study found that ΔNp63α directly regulates VDR expression, which in turn may reduce invasiveness in an epidermoid cancer cell line.
3 citations
,
February 2016 in “Pediatric dermatology” This report describes two cases of Rapp–Hodgkin ectodermal dysplasia where refractory scalp erosions improved significantly with potent topical steroids; it also suggests a potential link between these scalp conditions and erosive pustular dermatosis of the scalp in elderly patients.