Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole‐Exome Sequencing in a Patient with Delayed‐Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1(R206H) ‐Specific Human Cellular and Zebrafish Models

Bone morphogenetic protein (BMP) signaling is critical in skeletal development. Overactivation can trigger heterotopic ossification (HO) as in fibrodysplasia ossificans progressiva (FOP), a rare, progressive disease of massive HO formation. A small subset of FOP patients harboring the causative ACVR...

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Detalles Bibliográficos
Autores principales: Wentworth, Kelly L., Lalonde, Robert L., Groppe, Jay C., Brewer, Niambi, Moody, Tania, Hansberry, Steven, Taylor, Kimberly E., Shore, Eileen M., Kaplan, Frederick S., Pignolo, Robert J., Yelick, Pamela C., Hsiao, Edward C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950781/
https://www.ncbi.nlm.nih.gov/pubmed/36153796
http://dx.doi.org/10.1002/jbmr.4711

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