A novel PTH1R mutation causes primary failure of eruption via the cAMP-PI3K/AKT pathway
This study indicated that the E302K mutation in PTH1R decreased the binding affinity of PTH1R protein for Gα<sub>s</sub>, down-regulated the cAMP-PI3K/AKT signaling pathway, and inhibited osteogenesis, eventually leading to PFE. This study not only expands the genotypic spectrum of PTH1R mutations but also elucidates the underlying pathogenic mechanism of PTH1R-associated PFE.
Authors
- Jiaxing Gong (ORCID: https://orcid.org/0000-0001-6454-5956)
- Mengfei Yu (ORCID: https://orcid.org/0000-0002-7700-4697)
- Kejie Lu (ORCID: https://orcid.org/0000-0002-6646-9931)
- Zhiyong Li (ORCID: https://orcid.org/0000-0002-6814-9165)
- Huiming Wang (ORCID: https://orcid.org/0000-0002-1131-7455)
- Ying Qian (ORCID: https://orcid.org/0000-0003-1971-8795)
Institutions
- Zhejiang Provincial Institute of Communications Planning,Design & Research (CN)
- Stomatology Hospital (CN)
- Zhejiang Center for Disease Control and Prevention (CN)
- Zhejiang University (CN)
Publication Details
- Journal
- Progress in Orthodontics
- Published
- 2025-02-24
- DOI
- https://doi.org/10.1186/s40510-025-00555-5
- Citations
- 4
- Primary Topic
- PI3K/AKT/mTOR signaling in cancer
- Type
- article
- Field-Weighted Citation Impact
- 3.22
Funders
- National Natural Science Foundation of China