Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties.

doi:10.1016/j.bone.2010.01.380

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Article

Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties.

Bone - 1 May 2010

Wang Chiachien J, Chen I-Ping, Koczon-Jaremko Boguslawa, Boskey Adele L, Ueki Yasuyoshi, Kuhn Liisa, Reichenberger Ernst J

Abstract excerpt

Cherubism is an autosomal dominant disorder in children characterized by unwarranted symmetrical bone resorption of the jaws with fibrous tissue deposition. Mutations causing cherubism have been identified in the adaptor protein SH3BP2. Knock-in mice with a Pro416Arg mutation in Sh3bp2 exhibit a generalized osteoporotic bone phenotype. In this study, we examined the effects of this "cherubism" mutation on...

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Identifiers

PMID: 20117257
DOI: 10.1016/j.bone.2010.01.380
PMCID: PMC2854251

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.