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

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

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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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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.
Venue
Science Translational Medicine
Published
2015-09-02
Volume
7
Issue
303
Pages
303ra137-303ra137
ISSN
  • 1946-6234 (ISSN-L)
  • 1946-6242
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
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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