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 producti