ArticleThe Journal of investigative dermatology2018
IRF6 and AP2A Interaction Regulates Epidermal Development.
Article in The Journal of investigative dermatology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- The orofacial cleft risk gene IRF6 is a target gene of SOX9 in cranial neural crest cells.Journal of molecular medicine (Berlin, Germany) · 2026Article
- Identification of functional non-coding variants associated with orofacial cleft.Nature communications · 2025Article
- Distinct IRF6 dysfunction mechanisms in syndromic orofacial clefts: Computational evidence for allosteric versus direct disruption.Computational and structural biotechnology journal · 2025Article
- Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting.Scientific reports · 2024Article
- GRHL2 and AP2a coordinate early surface ectoderm lineage commitment during development.iScience · 2023Article
- Function and transcriptional regulation of TCTN1 in oral squamous cell carcinoma.Oncology reports · 2022Article
- Family based and case-control designs reveal an association of TFAP2A in nonsyndromic cleft lip only among Vietnamese population.Molecular genetics & genomic medicine · 2021Article
- ANANSE: an enhancer network-based computational approach for predicting key transcription factors in cell fate determination.Nucleic acids research · 2021Article
- Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate.HGG advances · 2021Article
- Advances in scarless foetal wound healing and prospects for scar reduction in adults.Cell proliferation · 2020Review
- A clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family.Molecular medicine reports · 2020Article
- The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.Human molecular genetics · 2019Article
- TGF-β Signaling and the Epithelial-Mesenchymal Transition during Palatal Fusion.International journal of molecular sciences · 2018Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Variants in IRF6 can lead to Van der Woude syndrome and popliteal pterygium syndrome. Furthermore, genes upstream and downstream of IRF6, including GRHL3 and TP63, are also associated with orofacial clefting. Additionally, a variant in an enhancer (MCS9.7) that regulates IRF6 is associated with risk for isolated orofacial clefting. This variant (rs642961) abrogates AP2A protein binding at MCS9.7. Here, we found that AP2A protein regulates MCS9.7 enhancer activity in vivo and IRF6 protein expression in epidermal development. In addition, loss of IRF6 leads to supra-basal expression of AP2A protein. Finally, using an IRF6 allelic series, we found that either increasing or decreasing IRF6 protein expression can destabilize AP2A protein expression in vivo. These data suggest that IRF6 regulates AP2A protein level in epidermal development. Therefore, we conclude that IRF6 and TFAP2A are part of a genetic regulatory network that is critical in epithelial development, with implications for both orofacial and cutaneous tissues. Our work provides in vivo, functional data to explain the relationship between AP2A protein binding and the MCS9.7 enhancer in orofacial clefting. This work is important because the MCS9.7 enhancer element contains a variant that abrogates AP2A protein binding and increases risk for orofacial clefting worldwide.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.