A Novel <scp> <i>COL12A1</i> </scp> Mutation Causes Oral Tissue Abnormalities by Regulating Gingival Fibroblast Function
COL12A1 deficiency disrupts gingival homeostasis by driving fibroblast hyperproliferation, inhibiting fibroblast apoptosis, and suppressing osteogenic differentiation via dysregulated ECM remodeling. These findings establish collagen XII as a critical regulator of neural crest-derived oral connective tissues, providing mechanistic insights into gingival hyperplasia and skeletal anomalies in COL12A1-related disorders.
Authors
- Man Qin
- Yi Yang (ORCID: https://orcid.org/0000-0003-0173-7306)
- Xin Wang (ORCID: https://orcid.org/0000-0003-0273-5724)
- Yuanyuan Wang (ORCID: https://orcid.org/0000-0002-1404-6224)
- Xiaojing Yuan (ORCID: https://orcid.org/0000-0003-0483-6916)
- Shi Yu (ORCID: https://orcid.org/0000-0002-7140-9327)
Institutions
- Peking University (CN)
- National Clinical Research Center for Digestive Diseases (CN)
Publication Details
- Journal
- Oral Diseases
- Published
- 2025-06-18
- DOI
- https://doi.org/10.1111/odi.70000
- Citations
- 2
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 3.24