HAX1, gene responsible for Kostmann syndrome, regulates gingival epithelial barrier function via intracellular trafficking of JAM1
These results indicate that periodontal diseases complicated with Kostmann syndrome are induced by reduced JAM1 expression, caused by JAM1 being missorted into lysosomes by HAX1 dysfunction.
Authors
- Ryohei Matsumura
- Hiroki Takeuchi (ORCID: https://orcid.org/0000-0001-5938-1897)
- Keita Tanigaki
- Masae Kuboniwa (ORCID: https://orcid.org/0000-0002-3332-2431)
- Atsuo Amano (ORCID: https://orcid.org/0000-0002-5158-147X)
- Shunsuke Yamaga
- Akito Sakanaka (ORCID: https://orcid.org/0000-0001-9733-6886)
- Michiya Matsusaki (ORCID: https://orcid.org/0000-0003-4294-9313)
- Naoko Sasaki
- Tsukasa Tamamori
Institutions
- Osaka University of Economics (JP)
- Osaka City University (JP)
- Osaka Dental University (JP)
- The University of Osaka (JP)
Publication Details
- Journal
- Frontiers in Cell and Developmental Biology
- Published
- 2025-08-13
- DOI
- https://doi.org/10.3389/fcell.2025.1624718
- Citations
- 1
- Primary Topic
- Blood disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.82