Brittle, but not boring: a fresh look at osteogenesis imperfecta type V.
作者信息
Ferron Mathieu, Vacher Jean
机构信息
Molecular Physiology Research Unit, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.
Département de Médecine, Université de Montréal, Montréal, QC H3T 1J4, Canada.
出版信息
J Bone Miner Res. 2025 May 24;40(5):563-564. doi: 10.1093/jbmr/zjaf035.
Abstract
摘要
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本文引用的文献
1
An inducible mouse model of osteogenesis imperfecta type V reveals aberrant osteogenesis caused by Ifitm5 c.-14C>T mutation.
J Bone Miner Res. 2025 May 24;40(5):577-590. doi: 10.1093/jbmr/zjaf022.
2
The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.
J Clin Invest. 2024 Jun 17;134(15):e170369. doi: 10.1172/JCI170369.
3
Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C > T mutation.
Sci Rep. 2020 Dec 3;10(1):21197. doi: 10.1038/s41598-020-78403-1.
4
Crispr-Cas9 engineered osteogenesis imperfecta type V leads to severe skeletal deformities and perinatal lethality in mice.
Bone. 2018 Feb;107:131-142. doi: 10.1016/j.bone.2017.11.013. Epub 2017 Nov 22.
5
The osteogenic cell surface marker BRIL/IFITM5 is dispensable for bone development and homeostasis in mice.
PLoS One. 2017 Sep 7;12(9):e0184568. doi: 10.1371/journal.pone.0184568. eCollection 2017.
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A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation.
J Bone Miner Res. 2015 Mar;30(3):489-98. doi: 10.1002/jbmr.2363.
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Topological mapping of BRIL reveals a type II orientation and effects of osteogenesis imperfecta mutations on its cellular destination.
J Bone Miner Res. 2014 Sep;29(9):2004-16. doi: 10.1002/jbmr.2243.
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Bril: a novel bone-specific modulator of mineralization.
J Bone Miner Res. 2008 Sep;23(9):1497-508. doi: 10.1359/jbmr.080412.
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Type V osteogenesis imperfecta: a new form of brittle bone disease.
J Bone Miner Res. 2000 Sep;15(9):1650-8. doi: 10.1359/jbmr.2000.15.9.1650.
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