ArticleFrontiers in cell and developmental biology2020
A Novel Van der Woude Syndrome-Causing
Article in Frontiers in cell and developmental biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- IRF6 regulates adherens junction proteins and inflammatory cytokines in salivary acinar cells and its expression is elevated in Sjӧgren's syndrome.Archives of oral biology · 2025Article
- Genetic variant classification by predicted protein structure: A case study on IRF6.Computational and structural biotechnology journal · 2024Article
- Interferon regulatory factor 6 (IRF6) determines intestinal epithelial cell development and immunity.Mucosal immunology · 2024Article
- A novelFrontiers in genetics · 2024Article
- Immortalization of patient-derived lip cells for establishing 3D lip models.Frontiers in cell and developmental biology · 2024Article
- Consistent downregulation of the cleft lip/palate-associated genesFrontiers in oncology · 2022Article
- A Living Cell Repository of the Cranio-/Orofacial Region to Advance Research and Promote Personalized Medicine.Frontiers in cell and developmental biology · 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
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Van der Woude syndrome (VWS) is a genetic syndrome that leads to typical phenotypic traits, including lower lip pits and cleft lip/palate (CLP). The majority of VWS-affected patients harbor a pathogenic variant in the gene encoding for the transcription factor interferon regulatory factor 6 (IRF6), a crucial regulator of orofacial development, epidermal differentiation and tissue repair. However, most of the underlying mechanisms leading from pathogenic
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