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Journal Abstract Search

209 related items for PubMed ID: 9525992

  • 21.
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  • 22. 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; 54(2):169-78. PubMed ID: 8304336
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  • 23. Craniofacial abnormalities in mice carrying a dominant interference mutation in type X collagen.
    Chung KS, Jacenko O, Boyle P, Olsen BR, Nishimura I.
    Dev Dyn; 1997 Apr; 208(4):544-52. PubMed ID: 9097026
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  • 24. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 25. Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
    McIntosh I, Abbott MH, Warman ML, Olsen BR, Francomano CA.
    Hum Mol Genet; 1994 Feb; 3(2):303-7. PubMed ID: 8004099
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  • 27. 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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  • 28.
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  • 29. Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of spondyloepiphyseal dysplasia.
    Gaiser KG, Maddox BK, Bann JG, Boswell BA, Keene DR, Garofalo S, Horton WA.
    J Bone Miner Res; 2002 Jan 12; 17(1):39-47. PubMed ID: 11771668
    [Abstract] [Full Text] [Related]

  • 30. Heritable diseases of cartilage caused by mutations in collagen genes.
    Williams CJ, Jimenez SA.
    J Rheumatol Suppl; 1995 Feb 12; 43():28-33. PubMed ID: 7752129
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  • 31.
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  • 34. Equal expression of typ X collagen mRNA fom mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid.
    Gregory CA, Zabel B, Grant ME, Boot-Handford RP, Wallis GA.
    J Med Genet; 2000 Aug 12; 37(8):627-9. PubMed ID: 10991694
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  • 35.
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  • 36. Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.
    Forouhan M, Sonntag S, Boot-Handford RP.
    Hum Mol Genet; 2018 Nov 15; 27(22):3840-3853. PubMed ID: 30010889
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  • 37.
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  • 38. A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.
    Matsui Y, Yasui N, Kawabata H, Ozono K, Nakata K, Mizushima T, Tsumaki N, Kataoka E, Fujita Y, Ochi T.
    J Hum Genet; 2000 Nov 15; 45(2):105-8. PubMed ID: 10721676
    [Abstract] [Full Text] [Related]

  • 39. Normal long bone growth and development in type X collagen-null mice.
    Rosati R, Horan GS, Pinero GJ, Garofalo S, Keene DR, Horton WA, Vuorio E, de Crombrugghe B, Behringer RR.
    Nat Genet; 1994 Oct 15; 8(2):129-35. PubMed ID: 7842010
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  • 40.
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