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198 related items for PubMed ID: 1613761

  • 1. The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.
    Cole WG, Patterson E, Bonadio J, Campbell PE, Fortune DW.
    J Med Genet; 1992 Feb; 29(2):112-8. PubMed ID: 1613761
    [Abstract] [Full Text] [Related]

  • 2. The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues.
    Cole WG, Campbell PE, Rogers JG, Bateman JF.
    J Med Genet; 1990 Sep; 27(9):545-51. PubMed ID: 2121988
    [Abstract] [Full Text] [Related]

  • 3. The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix.
    Cole WG, Chow CW, Bateman JF, Sillence DO.
    J Med Genet; 1996 Nov; 33(11):965-7. PubMed ID: 8950680
    [Abstract] [Full Text] [Related]

  • 4. The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen.
    Cole WG, Chow CW, Rogers JG, Bateman JF.
    J Med Genet; 1990 Apr; 27(4):228-35. PubMed ID: 2325102
    [Abstract] [Full Text] [Related]

  • 5. Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.
    Takagi M, Shinohara H, Narumi S, Nishimura G, Hasegawa Y, Hasegawa T.
    Am J Med Genet A; 2015 Jul; 167(7):1627-31. PubMed ID: 25858481
    [Abstract] [Full Text] [Related]

  • 6. Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen.
    Cole WG, Lam TP.
    J Med Genet; 1996 Mar; 33(3):193-6. PubMed ID: 8728690
    [Abstract] [Full Text] [Related]

  • 7. Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.
    Marini JC, Lewis MB, Chen K.
    Am J Med Genet; 1993 Jan 15; 45(2):241-5. PubMed ID: 8456809
    [Abstract] [Full Text] [Related]

  • 8. Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
    Spotila LD, Constantinou CD, Sereda L, Ganguly A, Riggs BL, Prockop DJ.
    Proc Natl Acad Sci U S A; 1991 Jun 15; 88(12):5423-7. PubMed ID: 2052622
    [Abstract] [Full Text] [Related]

  • 9. Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.
    Steinmann B, Westerhausen A, Constantinou CD, Superti-Furga A, Prockop DJ.
    Biochem J; 1991 Nov 01; 279 ( Pt 3)(Pt 3):747-52. PubMed ID: 1953667
    [Abstract] [Full Text] [Related]

  • 10. SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.
    Mackay K, Lund AM, Raghunath M, Steinmann B, Dalgleish R.
    Hum Genet; 1993 Jun 01; 91(5):439-44. PubMed ID: 8100209
    [Abstract] [Full Text] [Related]

  • 11. Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.
    Starman BJ, Eyre D, Charbonneau H, Harrylock M, Weis MA, Weiss L, Graham JM, Byers PH.
    J Clin Invest; 1989 Oct 01; 84(4):1206-14. PubMed ID: 2794057
    [Abstract] [Full Text] [Related]

  • 12. Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.
    Cole WG, Chan D, Chow CW, Rogers JG, Bateman JF.
    J Med Genet; 1996 Nov 01; 33(11):968-71. PubMed ID: 8950681
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 14. Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix.
    Tsuneyoshi T, Westerhausen A, Constantinou CD, Prockop DJ.
    J Biol Chem; 1991 Aug 25; 266(24):15608-13. PubMed ID: 1874719
    [Abstract] [Full Text] [Related]

  • 15. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.
    Edwards MJ, Wenstrup RJ, Byers PH, Cohn DH.
    Hum Mutat; 1992 Aug 25; 1(1):47-54. PubMed ID: 1301191
    [Abstract] [Full Text] [Related]

  • 16. Correlation of clinical and molecular biological abnormalities in osteogenesis imperfecta.
    Cole W, Chan D, Lamande S, Mascara T, Rogers J, Bateman J.
    Connect Tissue Res; 1989 Aug 25; 21(1-4):91-5; discussion 95-7. PubMed ID: 2605955
    [Abstract] [Full Text] [Related]

  • 17. Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen.
    Bateman JF, Chan D, Walker ID, Rogers JG, Cole WG.
    J Biol Chem; 1987 May 25; 262(15):7021-7. PubMed ID: 3108247
    [Abstract] [Full Text] [Related]

  • 18. Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.
    Valli M, Zolezzi F, Mottes M, Antoniazzi F, Stanzial F, Tenni R, Pignatti P, Cetta G.
    Eur J Biochem; 1993 Oct 01; 217(1):77-82. PubMed ID: 8223589
    [Abstract] [Full Text] [Related]

  • 19. Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen.
    Wenstrup RJ, Hunter AG, Byers PH.
    Hum Genet; 1986 Sep 01; 74(1):47-53. PubMed ID: 3759085
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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