Ontology highlight
ABSTRACT:
SUBMITTER: Joeng KS
PROVIDER: S-EPMC4082367 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Joeng Kyu Sang KS Lee Yi-Chien YC Jiang Ming-Ming MM Bertin Terry K TK Chen Yuqing Y Abraham Annie M AM Ding Hao H Bi Xiaohong X Ambrose Catherine G CG Lee Brendan H BH
Human molecular genetics 20140314 15
Osteogenesis imperfecta (OI) is a heritable disorder of connective tissue characterized by bone fragility and low bone mass. Recently, our group and others reported that WNT1 recessive mutations cause OI, whereas WNT1 heterozygous mutations cause early onset osteoporosis. These findings support the hypothesis that WNT1 is an important WNT ligand regulating bone formation and bone homeostasis. While these studies provided strong human genetic and in vitro functional data, an in vivo animal model ...[more]