Ontology highlight
ABSTRACT:
SUBMITTER: Fowlkes JL
PROVIDER: S-EPMC6914252 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Fowlkes John L JL Bunn R Clay RC Ray Philip D PD Kalaitzoglou Evangelia E Uppuganti Sasidhar S Unal Mustafa M Nyman Jeffry S JS Thrailkill Kathryn M KM
Bone 20191102
Recent clinical studies have revealed that a somatic mutation in MAP2K1, causing constitutive activation of MEK1 in osteogenic cells, occurs in melorheostotic bone disease in humans. We have generated a mouse model which expresses an activated form of MEK1 (MEK1DD) specifically in osteoprogenitors postnatally. The skeletal phenotype of these mice recapitulates many features of melorheostosis observed in humans, including extra-cortical bone formation, abundant osteoid formation, decreased minera ...[more]