Ontology highlight
ABSTRACT:
SUBMITTER: Pei H
PROVIDER: S-EPMC3775478 | biostudies-other | 2013 Jan
REPOSITORIES: biostudies-other
Pei Huadong H Wu Xiaosheng X Liu Tongzheng T Yu Kefei K Jelinek Diane F DF Lou Zhenkun Z
Journal of immunology (Baltimore, Md. : 1950) 20121214 2
Wolf-Hirschhorn syndrome (WHS) is a genetic disease with characteristic facial features and developmental disorders. Of interest, loss of the MMSET gene (also known as WHSC1) is considered to be responsible for the core phenotypes of this disease. Patients with WHS also display Ab deficiency, although the underlying cause of this deficiency is unclear. Recent studies suggest that the histone methyltransferase activity of MMSET plays an important role in the DNA damage response by facilitating th ...[more]