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Journal Abstract Search

124 related items for PubMed ID: 9920912

  • 1. 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
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  • 2. Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
    Wallis GA, Rash B, Sykes B, Bonaventure J, Maroteaux P, Zabel B, Wynne-Davies R, Grant ME, Boot-Handford RP.
    J Med Genet; 1996 Jun 05; 33(6):450-7. PubMed ID: 8782043
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  • 3. Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type schmid. Evidence for co-assembly of the mutant and wild-type chains and binding to molecular chaperones.
    McLaughlin SH, Conn SN, Bulleid NJ.
    J Biol Chem; 1999 Mar 12; 274(11):7570-5. PubMed ID: 10066825
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  • 4. Interaction of collagen alpha1(X) containing engineered NC1 mutations with normal alpha1(X) in vitro. Implications for the molecular basis of schmid metaphyseal chondrodysplasia.
    Chan D, Freddi S, Weng YM, Bateman JF.
    J Biol Chem; 1999 May 07; 274(19):13091-7. PubMed ID: 10224061
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  • 7. Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells.
    Wilson R, Freddi S, Bateman JF.
    J Biol Chem; 2002 Apr 12; 277(15):12516-24. PubMed ID: 11805116
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  • 12. Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.
    Wallis GA, Rash B, Sweetman WA, Thomas JT, Super M, Evans G, Grant ME, Boot-Handford RP.
    Am J Hum Genet; 1994 Feb 12; 54(2):169-78. PubMed ID: 8304336
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  • 17. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
    Bateman JF, Wilson R, Freddi S, Lamandé SR, Savarirayan R.
    Hum Mutat; 2005 Jun 12; 25(6):525-34. PubMed ID: 15880705
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