Ontology highlight
ABSTRACT:
SUBMITTER: Harada M
PROVIDER: S-EPMC2676118 | biostudies-literature | 2009 Mar
REPOSITORIES: biostudies-literature
Nature genetics 20090215 3
The spontaneous dominant mouse mutant, Elbow knee synostosis (Eks), shows elbow and knee joint synosotsis, and premature fusion of cranial sutures. Here we identify a missense mutation in the Fgf9 gene that is responsible for the Eks mutation. Through investigation of the pathogenic mechanisms of joint and suture synostosis in Eks mice, we identify a key molecular mechanism that regulates FGF9 signaling in developing tissues. We show that the Eks mutation prevents homodimerization of the FGF9 pr ...[more]