Cited by 448Heterotopic Ossification and Related ConditionsBone Tumor Diagnosis and TreatmentsMuscle Physiology and Disorders

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ACVR1 R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A

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Hatsell, Sarah J., Idone, Vincent, Wolken, Dana M. Alessi, Huang, Lily, Kim, Hyon J., Wang, Lili, Wen, Xialing, Nannuru, Kalyan C., Jimenez, Johanna, Xie, Liqin, Das, Nanditha, Makhoul, Genevieve, Chernomorsky, Rostislav, D’Ambrosio, David, Corpina, Richard A., Schoenherr, Christopher J., Feeley, Kieran, Yu, Paul B., Yancopoulos, George D., Murphy, Andrew J., Economides, Aris N.·2015·Science Translational Medicine

DOI 10.1126/scitranslmed.aac4358PMC PMC6164166

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Abstract

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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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: Hatsell, Sarah J.
Idone, Vincent
Kim, Hyon J.
Wang, Lili
Nannuru, Kalyan C.
Jimenez, Johanna
Das, Nanditha
Schoenherr, Christopher J.
Yu, Paul B.
Murphy, Andrew J.
Economides, Aris N.
Venue: Science Translational Medicine
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2015-09-02
Volume: 7
Issue: 303
Pages: 303ra137-303ra137
ISSN: 1946-6234 (ISSN-L)
1946-6242
DOI: 10.1126/scitranslmed.aac4358
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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ACVR1 R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A

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