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Article

The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts.

International journal of molecular sciences - 15 Feb 2022

Maranda Vincent, Gaumond Marie-Hélène, Moffatt Pierre

Abstract excerpt

BRIL (bone restricted ifitm-like; also known as IFITM5) is a transmembrane protein expressed in osteoblasts. Although its role in skeletal development and homeostasis is unknown, mutations in BRIL result in rare dominant forms of osteogenesis imperfecta. The pathogenic mechanism has been proposed to be a gain-of or neomorphic function. To understand the function of BRIL and its OI type V mutant (MALEP BRIL) and...

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Identifiers

PMID: 35216266
DOI: 10.3390/ijms23042148
PMCID: PMC8875491

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