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138 related items for PubMed ID: 10991694

  • 1. 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; 37(8):627-9. PubMed ID: 10991694
    [No Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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 15; 3(2):303-7. PubMed ID: 8004099
    [Abstract] [Full Text] [Related]

  • 4. A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.
    Chan D, Weng YM, Graham HK, Sillence DO, Bateman JF.
    J Clin Invest; 1998 Apr 01; 101(7):1490-9. PubMed ID: 9525992
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 33(6):450-7. PubMed ID: 8782043
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
    Bateman JF, Wilson R, Freddi S, Lamandé SR, Savarirayan R.
    Hum Mutat; 2005 Jun 03; 25(6):525-34. PubMed ID: 15880705
    [Abstract] [Full Text] [Related]

  • 8. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.
    Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA.
    Nat Genet; 1993 Sep 03; 5(1):79-82. PubMed ID: 8220429
    [Abstract] [Full Text] [Related]

  • 9. A recurrent 1992delCT mutation of the type X collagen gene in a Japanese patient with Schmid metaphyseal chondrodysplasia.
    Matsui Y, Kimura T, Tsumaki N, Yasui N, Ochi T.
    Jpn J Hum Genet; 1996 Sep 03; 41(3):339-42. PubMed ID: 8996971
    [Abstract] [Full Text] [Related]

  • 10. 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 03; 54(2):169-78. PubMed ID: 8304336
    [Abstract] [Full Text] [Related]

  • 11. 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 03; 28(11):1497-501. PubMed ID: 20872587
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia.
    Stratakis CA, Orban Z, Burns AL, Vottero A, Mitsiades CS, Marx SJ, Abbassi V, Chrousos GP.
    Biochem Mol Med; 1996 Dec 15; 59(2):112-7. PubMed ID: 8986632
    [Abstract] [Full Text] [Related]

  • 14. Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly.
    Bateman JF, Freddi S, McNeil R, Thompson E, Hermanns P, Savarirayan R, Lamandé SR.
    Hum Mutat; 2004 Apr 15; 23(4):396. PubMed ID: 15024737
    [Abstract] [Full Text] [Related]

  • 15. Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.
    Goyal M, Gupta A, Choudhary A, Bhandari A.
    Indian J Pediatr; 2019 Feb 15; 86(2):183-185. PubMed ID: 30209734
    [Abstract] [Full Text] [Related]

  • 16. Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.
    McIntosh I, Abbott MH, Francomano CA.
    Hum Mutat; 1995 Feb 15; 5(2):121-5. PubMed ID: 7749409
    [Abstract] [Full Text] [Related]

  • 17. Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.
    Sawai H, Ida A, Nakata Y, Koyama K.
    J Hum Genet; 1998 Feb 15; 43(4):259-61. PubMed ID: 9852679
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.
    Ridanpää M, Ward LM, Rockas S, Särkioja M, Mäkelä H, Susic M, Glorieux FH, Cole WG, Mäkitie O.
    J Med Genet; 2003 Oct 12; 40(10):741-6. PubMed ID: 14569119
    [Abstract] [Full Text] [Related]

  • 20. 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 Oct 12; 9(2):131-5. PubMed ID: 9067753
    [Abstract] [Full Text] [Related]

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