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Journal Abstract Search

258 related items for PubMed ID: 12538651

  • 1. 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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  • 2. Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
    Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC.
    Hum Mutat; 2007 Apr 21; 28(4):396-405. PubMed ID: 17206620
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  • 3. Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta.
    Pace JM, Atkinson M, Willing MC, Wallis G, Byers PH.
    Hum Mutat; 2001 Oct 21; 18(4):319-26. PubMed ID: 11668615
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  • 4. 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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  • 13. Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly.
    Lamandé SR, Chessler SD, Golub SB, Byers PH, Chan D, Cole WG, Sillence DO, Bateman JF.
    J Biol Chem; 1995 Apr 14; 270(15):8642-9. PubMed ID: 7721766
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  • 14. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
    Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH.
    Hum Mutat; 2007 Mar 14; 28(3):209-21. PubMed ID: 17078022
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  • 15. Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.
    Chiodo AA, Sillence DO, Cole WG, Bateman JF.
    Biochem J; 1995 Nov 01; 311 ( Pt 3)(Pt 3):939-43. PubMed ID: 7487954
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  • 18. COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
    Lindahl K, Barnes AM, Fratzl-Zelman N, Whyte MP, Hefferan TE, Makareeva E, Brusel M, Yaszemski MJ, Rubin CJ, Kindmark A, Roschger P, Klaushofer K, McAlister WH, Mumm S, Leikin S, Kessler E, Boskey AL, Ljunggren O, Marini JC.
    Hum Mutat; 2011 Jun 01; 32(6):598-609. PubMed ID: 21344539
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