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Journal Abstract Search

106 related items for PubMed ID: 20872587

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  • 4. 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
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  • 6. 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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  • 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 Dec 19; 5(2):121-5. PubMed ID: 7749409
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  • 8. 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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  • 9. 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 15; 33(6):450-7. PubMed ID: 8782043
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  • 14. 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
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  • 15. 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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  • 17. Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.
    Goyal M, Gupta A, Choudhary A, Bhandari A.
    Indian J Pediatr; 2019 Feb 05; 86(2):183-185. PubMed ID: 30209734
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  • 18. 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 05; 43(4):259-61. PubMed ID: 9852679
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  • 20. A novel COL10A1 mutation in a Chinese pedigree with Schmid type metaphyseal chondrodysplasia.
    Hu X, Zhang X, Li Y, Lou P, Li X, Jiang L.
    Clin Lab; 2015 Feb 05; 61(3-4):227-33. PubMed ID: 25974987
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