A Missense Mutation in Close Proximity of ALS-linked <i>PFN1</i> Mutations Causes Only Early-onset Paget Disease of Bone
The observation of recurrent mutations highlights the causative role of PFN1 (L112P) in early-onset PDB/giant cell tumor within the Chinese population and provides insights into the physio-pathological functions of Profilin 1.
Authors
- Baojie Li (ORCID: https://orcid.org/0000-0002-3913-1062)
- Shuqin Xu (ORCID: https://orcid.org/0000-0003-0180-9680)
- Zhe Wei (ORCID: https://orcid.org/0000-0001-8558-4639)
- Zhenlin Zhang (ORCID: https://orcid.org/0000-0002-4339-1617)
- Hua Yue
- Xiaoxiang Li (ORCID: https://orcid.org/0000-0001-5463-5333)
- Yang Xu (ORCID: https://orcid.org/0000-0002-3315-0676)
- Rou Weng
Institutions
- Shanghai Jiao Tong University (CN)
- Ministry of Education (KR)
- Shanghai Sixth People's Hospital (CN)
- Tang Du Hospital (CN)
- Air Force Medical University (CN)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-06-02
- DOI
- https://doi.org/10.1210/clinem/dgaf314
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- China Postdoctoral Science Foundation
- National Key Research and Development Program of China