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Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling.
Guo S, Zhou J, Gao B, Hu J, Wang H, Meng J, Zhao X, Ma G, Lin C, Xiao Y, Tang W, Zhu X, Cheah KS, Feng G, Chan D, He L. Guo S, et al. Among authors: chan d. Cell Mol Biol Lett. 2010;15(1):153-76. doi: 10.2478/s11658-009-0040-2. Epub 2009 Dec 20. Cell Mol Biol Lett. 2010. PMID: 20024692 Free PMC article.
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
Ho MS, Tsang KY, Lo RL, Susic M, Mäkitie O, Chan TW, Ng VC, Sillence DO, Boot-Handford RP, Gibson G, Cheung KM, Cole WG, Cheah KS, Chan D. Ho MS, et al. Among authors: chan d, chan tw. Hum Mol Genet. 2007 May 15;16(10):1201-15. doi: 10.1093/hmg/ddm067. Epub 2007 Apr 2. Hum Mol Genet. 2007. PMID: 17403716
4,689 results