Article
Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice.
Human molecular genetics - 15 Jun 2014
Muir Alison M, Ren Yinshi, Butz Delana Hopkins, Davis Nicholas A, Blank Robert D, Birk David E, Lee Se-Jin, Rowe David, Feng Jian Q, Greenspan Daniel S
Abstract excerpt
Osteogenesis imperfecta (OI), or brittle bone disease, is most often caused by dominant mutations in the collagen I genes COL1A1/COL1A2, whereas rarer recessive OI is often caused by mutations in genes encoding collagen I-interacting proteins. Recently, mutations in the gene for the proteinase bone morphogenetic 1 (BMP1) were reported in two recessive OI families. BMP1 and the closely related proteinase mammalian...
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