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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

119 related items for PubMed ID: 21447328

  • 21. 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. 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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  • 24. Hand involvement in Schmid metaphyseal chondrodysplasia.
    Elliott AM, Field FM, Rimoin DL, Lachman RS.
    Am J Med Genet A; 2005 Jan 15; 132A(2):191-3. PubMed ID: 15578582
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  • 25. 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
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  • 28. Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method.
    Ye Y, Li W, Wang G, Zhan L, Lin J, Li T, Zhang J.
    Mol Genet Genomic Med; 2021 Oct 01; 9(10):e1758. PubMed ID: 34423584
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  • 31. A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia.
    Pokharel RK, Alimsardjono H, Uno K, Fujii S, Shiba R, Matsuo M.
    Biochem Biophys Res Commun; 1995 Dec 26; 217(3):1157-62. PubMed ID: 8554571
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  • 35. Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia.
    Schipani E, Langman CB, Parfitt AM, Jensen GS, Kikuchi S, Kooh SW, Cole WG, Jüppner H.
    N Engl J Med; 1996 Sep 05; 335(10):708-14. PubMed ID: 8703170
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  • 36. Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism.
    Mullan LA, Mularczyk EJ, Kung LH, Forouhan M, Wragg JM, Goodacre R, Bateman JF, Swanton E, Briggs MD, Boot-Handford RP.
    J Clin Invest; 2017 Oct 02; 127(10):3861-3865. PubMed ID: 28920921
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  • 38. 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
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  • 40. Targeted induction of endoplasmic reticulum stress induces cartilage pathology.
    Rajpar MH, McDermott B, Kung L, Eardley R, Knowles L, Heeran M, Thornton DJ, Wilson R, Bateman JF, Poulsom R, Arvan P, Kadler KE, Briggs MD, Boot-Handford RP.
    PLoS Genet; 2009 Oct 03; 5(10):e1000691. PubMed ID: 19834559
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