Article
A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.
Human molecular genetics - 1 Oct 2007
Masuya Hiroshi, Nishida Keiichiro, Furuichi Tatsuya, Toki Hideaki, Nishimura Gen, Kawabata Hidehiko, Yokoyama Haruka, Yoshida Aki, Tominaga Sayaka, Nagano Junko, Shimizu Aya, Wakana Shigeharu, Gondo Yoichi, Noda Tetsuo, Shiroishi Toshihiko, Ikegawa Shiro
Abstract excerpt
Growth and differentiation factor 5 (GDF5) has been implicated in chondrogenesis and joint formation, and an association of GDF5 and osteoarthritis (OA) has been reported recently. However, the in vivo function of GDF5 remains mostly unclarified. Although various human GDF5 mutations and their phenotypic consequences have been described, only loss-of-function mutations that cause brachypodism (shortening and...
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