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Journal Abstract Search

190 related items for PubMed ID: 8782043

  • 1. 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; 33(6):450-7. PubMed ID: 8782043
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  • 2. 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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  • 3. 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
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  • 5. 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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  • 6. 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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  • 12. 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 05; 5(2):121-5. PubMed ID: 7749409
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  • 13. SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.
    Sweetman WA, Rash B, Sykes B, Beighton P, Hecht JT, Zabel B, Thomas JT, Boot-Handford R, Grant ME, Wallis GA.
    Am J Hum Genet; 1992 Oct 05; 51(4):841-9. PubMed ID: 1329505
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  • 14. 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 05; 9(5):e1668. PubMed ID: 33764685
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  • 15. Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.
    Bonaventure J, Chaminade F, Maroteaux P.
    Hum Genet; 1995 Jul 05; 96(1):58-64. PubMed ID: 7607655
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  • 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 Jul 05; 43(4):259-61. PubMed ID: 9852679
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  • 20. Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.
    Mäkitie O, Susic M, Ward L, Barclay C, Glorieux FH, Cole WG.
    Am J Med Genet A; 2005 Sep 01; 137A(3):241-8. PubMed ID: 16088909
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