ArticleThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association2017
Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome.
Article in The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 15 citations in OpenAlex.
- Neural crest and periderm-specific requirements of Irf6 during neural tube and craniofacial development.Developmental biology · 2025Review
- Neural crest and periderm-specific requirements ofbioRxiv : the preprint server for biology · 2024Article
- Consistent downregulation of the cleft lip/palate-associated genesFrontiers in oncology · 2022Article
- The role of the ubiquitin-proteasome pathway in skin cancer development: 26S proteasome-activated NF-κB signal transduction.Cancer biology & therapy · 2021Article
- Lack of IRF6 Disrupts Human Epithelial Homeostasis by Altering Colony Morphology, Migration Pattern, and Differentiation Potential of Keratinocytes.Frontiers in cell and developmental biology · 2021Article
- A Living Cell Repository of the Cranio-/Orofacial Region to Advance Research and Promote Personalized Medicine.Frontiers in cell and developmental biology · 2021Article
- A clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family.Molecular medicine reports · 2020Article
- Interferon regulatory factor 6 is required for proper wound healing in vivo.Developmental dynamics : an official publication of the American Association of Anatomists · 2020Article
- A Novel Van der Woude Syndrome-CausingFrontiers in cell and developmental biology · 2020Article
- p63 establishes epithelial enhancers at critical craniofacial development genes.Science advances · 2019Article
- Keratinocytes Isolated From Individual Cleft Lip/Palate Patients Display Variations in Their Differentiation PotentialFrontiers in physiology · 2018Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
objectiveInterferon Regulatory Factor 6 (IRF6) is critical for craniofacial development, epidermal differentiation, and tissue repair. IRF6 mutations cause Van der Woude Syndrome (VWS) and Popliteal Pterygium Syndrome. Individuals with VWS exhibit craniofacial anomalies, including cleft lip and palate and lip pits. Furthermore, they have an increased risk for wound-healing complications following surgical repair when compared with patients with nonsyndromic cleft lip and palate (NSCLP). However, nothing is known about the skin of these patients. The objective was to characterize the skin of patients with VWS. We hypothesize that IRF6 is required for proper skin homeostasis in humans.
designDiscarded tissue from a hip was collected during surgical alveolar bone graft. Samples from children with VWS harboring IRF6 mutations (n = 2) were compared with samples from children with NSCLP (n = 7). Histology was assessed following hematoxylin and eosin staining. The expressions of Proliferating Cell Nuclear Antigen, IRF6, P63, and Keratin 10 were determined by immunofluorescence. Keratinocytes were isolated and their proliferation potential was assessed by colony-forming efficiency assay.
resultsHip skin from children with VWS showed a thicker epidermis when compared with that from children with NSCLP. Proliferating Cell Nuclear Antigen staining revealed an increase in proliferation in syndromic tissues when compared with controls. However, P63 and Keratin 10 expression were similar between groups. Finally, keratinocytes from VWS showed increased long-term proliferation when compared with NSCLP.
conclusionsThese results support, in vivo and in vitro, a previously described role for IRF6 in epidermal proliferation in humans. They further demonstrate a critical function for IRF6 in cutaneous homeostasis.
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