Oral and Craniofacial Sciences Faculty

Yasuyoshi Ueki, M.D., Ph.D.

























Dr. Ueki has been working on the molecular and cellular pathogenesis of human craniofacial disorder, "Cherubism". Cherubism is a genetic disorder in children characterized by progressive bone resorption and accumulation of inflammatory/fibrous tissue in jaws, resulting in a disfiguring facial appearance. Dr. Ueki discovered the mutations responsible for Cherubism in a signaling adaptor protein, SH3BP2. By creating and investigating a mouse model of cherubism, he discovered that mutation in SH3BP2 enhances TNF-alpha production in macrophages and osteoclast differentiation. He also demonstrated that cherubism is a TNF-alpha dependent myeloid cell disorder in this mouse model.

Dr. Ueki’s current specific interest is the signaling pathway and molecular composition of signaling complex mediated by SH3BP2 that can explain how SH3BP2 is involved in the jawbone restricted bone resorption in cherubism patients, TNF-alpha production, and osteoclastogenesis. He believes that detailed analysis of signaling pathway that involves SH3BP2 will greatly contribute to better molecular understanding and treatment of not only cherubism but also more common inflammatory bone diseases such as rheumatoid arthritis and periodontal disease in which TNF-alpha and osteoclasts are playing critical roles.

Unravelling the Mysteries of Cherubism

Our research featured in Science News in Brief of NIDCR

Changing the face of cherubism

Shared pathways

Yasuyoshi Ueki, M.D., Ph.D.Associate Professor

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