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Cherubism gene Sh3bp2 is important for optimal bone formation, osteoblast differentiation, and function.
Am J Orthod Dentofacial Orthop. 2010 Aug;138(2):140.e1-140.e11; discussion 140-1. doi: 10.1016/j.ajodo.2009.05.021.
Am J Orthod Dentofacial Orthop. 2010.
PMID: 20691350
Free PMC article.
Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism.
Levaot N, Voytyuk O, Dimitriou I, Sircoulomb F, Chandrakumar A, Deckert M, Krzyzanowski PM, Scotter A, Gu S, Janmohamed S, Cong F, Simoncic PD, Ueki Y, La Rose J, Rottapel R.
Levaot N, et al.
Cell. 2011 Dec 9;147(6):1324-39. doi: 10.1016/j.cell.2011.10.045.
Cell. 2011.
PMID: 22153076
Free PMC article.
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