The DOI matches its Crossref record; 38 of the 38 references it cites were found in a registry or an index.
ACVR1 R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A
Open accessAbstract
In patients with fibrodysplasia ossificans progressiva, the disease-causing mutation changes the ligand response profile of the ACVR1 receptor so that it is activated by the normally antagonistic ligand activin A.
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“as ActRIIA/B receptors mediate many diverse biologic processes by responding to over a dozen ligands23–25”
From GDF8 and activin A blockade protects against GLP-1–induced muscle loss while enhancing fat loss in obese male mice and non-human primates (2025) · cites this paper as [24]
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“since these receptors mediate the diverse biologic actions of more than a dozen ligands23–25, there are potential concerns with broad ActRIIA/B blockade as an approach to maintain or increase muscle growth.”
From GDF8 and activin A blockade protects against GLP-1–induced muscle loss while enhancing fat loss in obese male mice and non-human primates (2025) · cites this paper as [24]
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BMP type I receptor inhibition reduces heterotopic ossification
Yu, P. B., Deng, D. Y., Lai, C. S. C., Hong, C. C., Cuny, G. D., Bouxsein, M., Hong, D. W., McManus, P. M., Katagiri, T., Sachidanandan, C., et al. (2008) · Nature Medicine · doi:10.1038/nm.1888 · Cited by 641
Self-citationAttisano, L. (1993) · Cell · doi:10.1016/0092-8674(93)90488-c · Cited by 639
High-throughput engineering of the mouse genome coupled with high-resolution expression analysis
Valenzuela, D. M., Murphy, A. J., Frendewey, D. A., Gale, N. W., Economides, A. N., Auerbach, W., Poueymirou, W. T., Adams, N. C., Rojas, J., Yasenchak, J., et al. (2003) · Nature Biotechnology · doi:10.1038/nbt822 · Cited by 583
Self-citationSpecific Activation of Smad1 Signaling Pathways by the BMP7 Type I Receptor, ALK2
Macías‐Silva, M., Hoodless, P. A., Tang, S. J., Buchwald, M., & Wrana, J. L. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.40.25628 · Cited by 476
Murphy, A. J., Macdonald, L. E., Stevens, S. G., Karow, M. L., Dore, A. T., Pobursky, K. J., Huang, T. T., Poueymirou, W. T., Esau, L., Meola, M., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1324022111 · Cited by 469
Self-citationA directional strategy for monitoring Cre-mediated recombination at the cellular level in the mouse
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Precise and in situ genetic humanization of 6 Mb of mouse immunoglobulin genes
Macdonald, L. E., Karow, M. L., Stevens, S. G., Auerbach, W., Poueymirou, W. T., Yasenchak, J., Frendewey, D. A., Valenzuela, D. M., Giallourakis, C. C., Alt, F. W., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1323896111 · Cited by 396
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Heldin, C.-H., & Moustakas, A. (2016) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a022053 · Cited by 711
Heterotopic Ossification: A Comprehensive Review
Meyers, C. A., Lisiecki, J. L., Miller, S., Levin, A. S., Fayad, L. M., Ding, C., Sono, T., McCarthy, E. F., Lévi, B., & James, A. W. (2019) · JBMR Plus · doi:10.1002/jbm4.10172 · Cited by 536
Osteoimmunology: The conceptual framework unifying the immune and skeletal systems
Okamoto, K., Nakashima, T., Shinohara, M., Negishi-Koga, T., Komatsu, N., Terashima, A., Sawa, S., Nitta, T., & Takayanagi, H. (2017) · Physiological Reviews · doi:10.1152/physrev.00036.2016 · Cited by 534
Bone Morphogenetic ProteinsPreprint
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Metadata
- Authors
- Hatsell, S. J., Idone, V., Wolken, D. M. A., Huang, L., Kim, H. J., Wang, L., Wen, X., Nannuru, K. C., Jimenez, J., Xie, L., Das, N., Makhoul, G., Chernomorsky, R., D’Ambrosio, D., Corpina, R. A., Schoenherr, C. J., Feeley, K., Yu, P. B., Yancopoulos, G. D., Murphy, A. J., & Economides, A. N.
- Affiliations
- Regeneron (United States) (US)
- Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
- Brigham and Women's Hospital (US)
- Corresponding author
- Hatsell, Sarah J.
- Idone, Vincent
- Wolken, Dana M. Alessi
- Huang, Lily
- Kim, Hyon J.
- Feeley, Kieran
- Economides, Aris N.
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2015-09-02
- Volume
- 7
- Issue
- 303
- Pages
- 303ra137-303ra137
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC6164166
- OpenAlex
- W2145304853
- Cited by
- 446
- References
- 38
- Citations by year
- 2026: 26 · 2025: 27 · 2024: 49 · 2023: 41 · 2022: 33 · 2021: 47 · 2020: 52 · 2019: 39 · 2018: 34 · 2017: 54 · 2016: 34 · 2015: 10
- FWCI
- 36.97
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR057374)
- Topics
- Health Sciences › Medicine › Rheumatology › Heterotopic Ossification and Related Conditions
- Health Sciences › Medicine › Orthopedics and Sports Medicine › Bone Tumor Diagnosis and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Keywords
- fibrodysplasia ossificans progressiva, ACVR1 R206H mutation, activin A, heterotopic ossification, BMP signaling, conditional knock-in mice, BMP antagonism
- MeSH terms
- Animals, Mice, Transgenic, Mutation, Myositis Ossificans, Protein Binding, Tacrolimus Binding Protein 1A, Activins, Activin Receptors, Type I, Mice
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