Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole‐Exome Sequencing in a Patient with Delayed‐Onset Fibrodysplasia Ossificans Progressiva (<scp>FOP</scp>) Using<i>ACVR1<sup>R206H</sup></i>‐Specific Human Cellular and Zebrafish Models-Reference-Cited by-同舟云学术

Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole‐Exome Sequencing in a Patient with Delayed‐Onset Fibrodysplasia Ossificans Progressiva (FOP) UsingACVR1^R206H‐Specific Human Cellular and Zebrafish Models

Published:2022-11 Issue:11 Volume:37 Page:2058-2076
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J of Bone & Mineral Res

Author:

Wentworth Kelly L.¹^ORCID,Lalonde Robert L.²^ORCID,Groppe Jay C.³^ORCID,Brewer Niambi⁴⁵^ORCID,Moody Tania⁶^ORCID,Hansberry Steven⁷^ORCID,Taylor Kimberly E.⁸^ORCID,Shore Eileen M.⁴⁵^ORCID,Kaplan Frederick S.⁴⁹,Pignolo Robert J.¹⁰^ORCID,Yelick Pamela C.²,Hsiao Edward C.⁶^ORCID

Affiliation:

1. Department of Medicine, Division of Endocrinology and Metabolism Zuckerberg San Francisco General Hospital San Francisco CA USA

2. Tufts University School of Dental Medicine, Division of Craniofacial and Molecular Genetics Boston MA USA

3. Department of Biomedical Sciences Texas A&M University College of Dentistry Dallas TX USA

4. Department of Orthopedic Surgery and The Center of Research for FOP & Related Disorders, Perelman School of Medicine University of Pennsylvania Philadelphia PA USA

5. Department of Genetics, Perelman School of Medicine University of Pennsylvania Philadelphia PA USA

6. Institute for Human Genetics, the Program in Craniofacial Biology, the UCSF Eli and Edythe Broad Institute for Regeneration Medicine, and the Department of Medicine, Division of Endocrinology and Metabolism University of California San Francisco CA USA

7. San Francisco State University, California Institute of Regenerative Medicine Bridges to Stem Cell Research Program San Francisco CA USA

8. Russell/Engleman Rheumatology Research Center University of California San Francisco CA USA

9. Department of Medicine, Perelman School of Medicine University of Pennsylvania Philadelphia PA USA

10. Department of Medicine Mayo Clinic Rochester MN USA

Funder

International Fibrodysplasia Ossificans Progressiva Association

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbmr.4711

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