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6. Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer. Bogin O, Kvansakul M, Rom E, Singer J, Yayon A, Hohenester E. Structure; 2002 Feb; 10(2):165-73. PubMed ID: 11839302 [Abstract] [Full Text] [Related]
9. Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize. Marks DS, Gregory CA, Wallis GA, Brass A, Kadler KE, Boot-Handford RP. J Biol Chem; 1999 Feb 05; 274(6):3632-41. PubMed ID: 9920912 [Abstract] [Full Text] [Related]
10. 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. Hum Mol Genet; 2007 May 15; 16(10):1201-15. PubMed ID: 17403716 [Abstract] [Full Text] [Related]
12. Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of the disease. Chan D, Ho MS, Cheah KS. J Biol Chem; 2001 Mar 16; 276(11):7992-7. PubMed ID: 11115494 [Abstract] [Full Text] [Related]
13. Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. Chan D, Cole WG, Rogers JG, Bateman JF. J Biol Chem; 1995 Mar 03; 270(9):4558-62. PubMed ID: 7876225 [Abstract] [Full Text] [Related]
14. A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia. Pokharel RK, Alimsardjono H, Uno K, Fujii S, Shiba R, Matsuo M. Biochem Biophys Res Commun; 1995 Dec 26; 217(3):1157-62. PubMed ID: 8554571 [Abstract] [Full Text] [Related]
19. Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. Ikegawa S, Nakamura K, Nagano A, Haga N, Nakamura Y. Hum Mutat; 1997 Feb 01; 9(2):131-5. PubMed ID: 9067753 [Abstract] [Full Text] [Related]
20. Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains. Mäkitie O, Susic M, Cole WG. J Orthop Res; 2010 Nov 01; 28(11):1497-501. PubMed ID: 20872587 [Abstract] [Full Text] [Related] Page: [Next] [New Search]