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Journal Abstract Search

113 related items for PubMed ID: 12833172

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  • 2. Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta.
    Bateman JF, Mascara T, Chan D, Cole WG.
    Biochem J; 1984 Jan 01; 217(1):103-15. PubMed ID: 6421277
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  • 5. Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
    Sarafova AP, Choi H, Forlino A, Gajko A, Cabral WA, Tosi L, Reing CM, Marini JC.
    Hum Mutat; 1998 Jan 01; 11(5):395-403. PubMed ID: 9600458
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  • 7. Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis.
    Tenni R, Cetta G, Dyne K, Rossi A, Quacci D, Lenzi L, Castellani AA.
    Hum Genet; 1988 Jul 01; 79(3):245-50. PubMed ID: 3402997
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  • 8. Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix.
    Cabral WA, Mertts MV, Makareeva E, Colige A, Tekin M, Pandya A, Leikin S, Marini JC.
    J Biol Chem; 2003 Mar 21; 278(12):10006-12. PubMed ID: 12538651
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  • 13. Type I procollagens containing substitutions of aspartate, arginine, and cysteine for glycine in the pro alpha 1 (I) chain are cleaved slowly by N-proteinase, but only the cysteine substitution introduces a kink in the molecule.
    Lightfoot SJ, Holmes DF, Brass A, Grant ME, Byers PH, Kadler KE.
    J Biol Chem; 1992 Dec 15; 267(35):25521-8. PubMed ID: 1460046
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  • 17. Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha2(I) and severe osteogenesis imperfecta.
    Campbell BG, Wootton JA, Macleod JN, Minor RR.
    J Bone Miner Res; 2001 Jun 15; 16(6):1147-53. PubMed ID: 11393792
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  • 18. Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystalline hydroxyapatite.
    Culbert AA, Lowe MP, Atkinson M, Byers PH, Wallis GA, Kadler KE.
    Biochem J; 1995 Nov 01; 311 ( Pt 3)(Pt 3):815-20. PubMed ID: 7487936
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  • 20. COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing.
    Barnes AM, Ashok A, Makareeva EN, Brusel M, Cabral WA, Weis M, Moali C, Bettler E, Eyre DR, Cassella JP, Leikin S, Hulmes DJS, Kessler E, Marini JC.
    Biochim Biophys Acta Mol Basis Dis; 2019 Sep 01; 1865(9):2210-2223. PubMed ID: 31055083
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