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161 related items for PubMed ID: 15024737

  • 1. 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; 23(4):396. PubMed ID: 15024737
    [Abstract] [Full Text] [Related]

  • 2. 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 Apr; 43(4):259-61. PubMed ID: 9852679
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response.
    Wilson R, Freddi S, Chan D, Cheah KS, Bateman JF.
    J Biol Chem; 2005 Apr 22; 280(16):15544-52. PubMed ID: 15695517
    [Abstract] [Full Text] [Related]

  • 7. 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 Apr 22; 5(2):121-5. PubMed ID: 7749409
    [Abstract] [Full Text] [Related]

  • 8. 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 22; 28(11):1497-501. PubMed ID: 20872587
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.
    Wu H, Wang S, Li G, Yao Y, Wang N, Sun X, Fang L, Jiang X, Zhao J, Wang Y, Xu C.
    Mol Genet Genomic Med; 2021 May 01; 9(5):e1668. PubMed ID: 33764685
    [Abstract] [Full Text] [Related]

  • 11. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 01; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 12. A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.
    Zhu Y, Li L, Zhou L, Mei H, Jin K, Liu K, Xu W, Tang J, Yang Y, Zhao R, He X.
    Clin Chim Acta; 2011 Jun 11; 412(13-14):1266-9. PubMed ID: 21447328
    [Abstract] [Full Text] [Related]

  • 13. 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 Jun 11; 9(2):131-5. PubMed ID: 9067753
    [Abstract] [Full Text] [Related]

  • 14. 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 11; 33(6):450-7. PubMed ID: 8782043
    [Abstract] [Full Text] [Related]

  • 15. Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.
    Kong L, Shi L, Wang W, Zuo R, Wang M, Kang Q.
    BMC Med Genet; 2019 Dec 19; 20(1):200. PubMed ID: 31856751
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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 07; 10(2):165-73. PubMed ID: 11839302
    [Abstract] [Full Text] [Related]

  • 18. 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 07; 5(1):79-82. PubMed ID: 8220429
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Deletions in the COL10A1 gene are not associated with skeletal changes in dogs.
    Young AE, Ryun JR, Bannasch DL.
    Mamm Genome; 2006 Jul 05; 17(7):761-8. PubMed ID: 16845471
    [Abstract] [Full Text] [Related]

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