Recurrent BMP4 variants in exon 4 cause non-HFE-associated hemochromatosis via the BMP/SMAD signaling pathway
The BMP4 p.H251Y and p.R269Q variants can downregulate hepcidin levels by inhibiting the BMP/SMAD axis, suggesting they may play pathogenic roles in iron overload.
Authors
- Jian Huang
- Jidong Jia (ORCID: https://orcid.org/0000-0002-4673-8890)
- Anjian Xu (ORCID: https://orcid.org/0000-0003-4186-9485)
- Qin Ouyang (ORCID: https://orcid.org/0000-0002-1161-5102)
- Donghu Zhou
- Sisi Chen (ORCID: https://orcid.org/0009-0009-4793-1383)
- Ning Zhang (ORCID: https://orcid.org/0000-0003-1867-5930)
- Wei Zhang (ORCID: https://orcid.org/0000-0002-9814-2431)
- Bei Zhang (ORCID: https://orcid.org/0000-0002-6704-1689)
- Yanmeng Li (ORCID: https://orcid.org/0000-0003-3151-7099)
- Xiaojuan Ou (ORCID: https://orcid.org/0009-0002-4662-4970)
Institutions
- Capital Medical University (CN)
- Beijing Friendship Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-11-19
- DOI
- https://doi.org/10.1186/s13023-024-03439-9
- Citations
- 4
- Primary Topic
- Iron Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Innovative Research Group Project of the National Natural Science Foundation of China
- National Natural Science Foundation of China
- Beijing Municipal Administration of Hospitals