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Article

IRF6 and AP2A Interaction Regulates Epidermal Development.

The Journal of investigative dermatology - 1 Dec 2018

Kousa Youssef A, Fuller Eric, Schutte Brian C

Abstract excerpt

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...

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Source

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Identifiers

PMID: 29913133
DOI: 10.1016/j.jid.2018.05.030
PMCID: PMC12959130

Genes

GRHL3
TFAP2A
TP63

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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IRF6 and AP2A Interaction Regulates Epidermal Development.PMID 29913133Read ↗

Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.Semantic proximity Read ↗

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6Semantic proximity Read ↗

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IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population.Semantic proximity Read ↗

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The orofacial cleft risk gene IRF6 is a target gene of SOX9 in cranial neural crest cellsSemantic proximity Read ↗

Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndromeSemantic proximity Read ↗

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.Semantic proximity Read ↗

A Novel Genetic Variation Identified in Patients With Orofacial Clefts.Semantic proximity Read ↗

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