Ontology highlight
ABSTRACT:
SUBMITTER: Levaot N
PROVIDER: S-EPMC3475183 | biostudies-literature | 2011 Dec
REPOSITORIES: biostudies-literature
Levaot Noam N Voytyuk Oleksandr O Dimitriou Ioannis I Sircoulomb Fabrice F Chandrakumar Arun A Deckert Marcel M Krzyzanowski Paul M PM Scotter Andrew A Gu Shengqing S Janmohamed Salima S Cong Feng F Simoncic Paul D PD Ueki Yasuyoshi Y La Rose Jose J Rottapel Robert R
Cell 20111201 6
Cherubism is an autosomal-dominant syndrome characterized by inflammatory destructive bony lesions resulting in symmetrical deformities of the facial bones. Cherubism is caused by mutations in Sh3bp2, the gene that encodes the adaptor protein 3BP2. Most identified mutations in 3BP2 lie within the peptide sequence RSPPDG. A mouse model of cherubism develops hyperactive bone-remodeling osteoclasts and systemic inflammation characterized by expansion of the myelomonocytic lineage. The mechanism by ...[more]