• 1
    Cole WG 1997 The Nicholas Andry Award-1996. The molecular pathology of osteogenesis imperfecta. Clin Orthop 343:235248.
  • 2
    Lund AM, Nicholls AC, Schwartz M, Skovby F 1997 Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. Acta Paediatr 86:711718.
  • 3
    Kuivaniemi H, Tromp G, Prockop DJ 1997 Mutations in fibrillar collagens (types I, II III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 9:300315.
  • 4
    Prockop DJ, Kivirikko KI 1995 Collagens: Molecular biology, diseases, and potentials for therapy. Annu Rev Biochem 64:403434.
  • 5
    Prockop DJ, Kuivaniemi H, Tromp G 1994 Molecular basis of osteogenesis imperfecta and related disorders of bone. Clin Plast Surg 21:407413.
  • 6
    Cole WG 1993 Etiology and pathogenesis of heritable connective tissue diseases. J Pediatr Orthop 13:392403.
  • 7
    Mietz H, Kasner L, Green WR 1997 Histopathologic and electron-microscopic features of corneal and scleral collagen fibers in osteogenesis imperfecta type III. Graefes Arch Clin Exp Ophthalmol 235:405410.
  • 8
    Raghunath M, Bruckner P, Steinmann B 1994 Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta. J Mol Biol 236:940949.
  • 9
    Bella J, Eaton M, Brodsky B, Berman HM 1994 Crystal and molecular structure of a collagen-like peptide structure at 1.9 Å resolution. Science 266:7581.
  • 10
    Jensen BL, Lund AM 1997 Osteogenesis imperfecta: Clinical, cephalometric, and biochemical investigations of OI types I III, and IV. J Craniofac Genet Dev Biol 17:121132.
  • 11
    Dyne KM, Valli M, Forlino A, Mottes M, Kresse H, Cetta G 1996 Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta. Am J Med Genet 63:161166.
  • 12
    Oliver JE, Thompson EM, Pope FM, Nicholls AC 1996 Mutation in the carboxy-terminal propeptide of the Pro alpha 1 (I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): Possible implications for protein folding. Hum Mutat 7:318326.
  • 13
    Nuytinck L, Dalgleish R, Spotila L, Renard JP, Van Regemorter N, De Paepe A 1996 Substitution of glycine-661 by serine in the alpha1 (I) and alpha2 (I) chains of type I collagen results in different clinical and biochemical phenotypes. Hum Genet 97:324329.
  • 14
    Fedarko NS, Sponseller PD, Shapiro JR 1996 Long-term extracellular matrix metabolism by cultured human osteogenesis imperfecta osteoblasts. J Bone Miner Res 11:800805.
  • 15
    Rajtar M, Laszlo A, Beviz J, Bossanyi A, Almasi L, Csernay L 1996 Bone mineral content in osteogenesis imperfecta. Orv Hetil 137:15191523.
  • 16
    Antoniazzi F, Bertoldo F, Mottes M, Valli M, Sirpresi S, Zamboni G, Valentini R, Tato L 1996 Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis. J Pediatr 129:432439.
  • 17
    Zionts LE, Nash JP, Rude R, Ross T, Stott NS 1995 Bone mineral density in children with mild osteogenesis imperfecta. J Bone Joint Surg Br 77:143147.
  • 18
    Vetter U, Eanes ED, Kopp JB, Termine JD, Gehron P 1991 Changes in apatite crystal size in bones of patients with osteogenesis imperfecta. Calcif Tissue Int 49:248250.
  • 19
    Cassella JP, Stamp TC, Ali SY 1996 A morphological and ultrastructural study of bone in osteogenesis imperfecta. Calcif Tissue Int 58:155165.
  • 20
    Cassella JP, Garrington N, Stamp TC, Ali SY 1995 An electron probe X-ray microanalytical study of bone mineral in osteogenesis imperfecta. Calcif Tissue Int 56:118122.
  • 21
    Traub W, Arad T, Vetter U, Weiner S 1994 Ultrastructural studies of bones from patients with osteogenesis imperfecta. Matrix Biol 14:337345.
  • 22
    Chipman SD, Sweet HO, McBride Jr DJ, Davisson MT, Marks Jr SC, Shuldiner AR, Wenstrup RJ, Rowe DW, Shapiro JR 1993 Defective pro alpha 2 (I) collagen synthesis in a recessive mutation in mice: A model of human osteogenesis imperfecta. Proc Natl Acad Sci USA 90:17011705.
  • 23
    Pereira R, Khillan JS, Helminen HJ, Hume EL, Prockop DJ 1993 Transgenic mice expressing a partially deleted gene for type I procollagen (COL1A1): A breeding line with a phenotype of spontaneous fractures and decreased bone collagen and mineral. J Clin Invest 91:709716.
  • 24
    Bonadio J, Saunders TL, Tsai E, Goldstein SA, Morris-Wiman J, Brinkley L, Dolan DF, Altschuler RA, Hawkins Jr JE, Bateman JF, Mascara T, Jaenisch R 1990 Transgenic mouse model of the mild dominant form of osteogenesis imperfecta. Proc Natl Acad Sci USA 87:71457149.
  • 25
    Guenet JL 1982 Fragilitas ossium (fro): An autosomal recessive mutation in the mouse. Prog Clin Biol Res 94:265267.
  • 26
    Camacho NP, Landis WJ, Boskey AL 1996 Mineral changes in a mouse model of osteogenesis imperfecta detected by Fourier transform infrared microscopy. Connect Tissue Res 35:259265.
  • 27
    Pereira RF, Hume EL, Halford KW, Prockop DJ 1995 Bone fragility in transgenic mice expressing a mutated gene for type I procollagen (COL1A1): parallels the age-dependent phenotype of human osteogenesis imperfecta. J Bone Miner Res 10:18371843.
  • 28
    McBride Jr DJ, Shapiro JR, Dunn MG 1998 Bone geometry and strength measurements in aging mice with the oim mutation. Calcif Tissue Int 62:172176.
  • 29
    Camacho NP, Dow D, Toledano TR, Buckmeyer JK, Gertner JM, Brayton CF, Raggio CL, Root L, Boskey AL 1998 Identification of the oim mutation by dye terminator chemistry combined with automated direct DNA sequencing. J Orthop Res 16:3842.
  • 30
    Saban J, Zussman MA, Havey R, Patwardhan AG, Schneider GB, King D 1996 Heterozygous oim mice exhibit a mild form of osteogenesis imperfecta. Bone 19:575579.
  • 31
    Roark RJ, Young WC Formulas for Stress and Strain, 5th ed. McGraw-Hill, Inc., New York, NY, U.S.A., pp. 292.
  • 32
    Burstein AH, Frankel VH 1971 A standard test for laboratory animal bone. J Biomech 4:155158.
  • 33
    Gadaleta SJ, Landis WJ, Boskey AL, Mendelsohn R 1996 Polarized FT-IR microscopy of calcified turkey leg tendon. Connect Tissue Res 34:203211.
  • 34
    Rey C, Renugopalakrishnan V, Collins B, Glimcher MJ 1991 Fourier transform infrared spectroscopic study of the carbonate ions in bone mineral during aging. Calcif Tissue Int 49:251258.
  • 35
    Willis JB 1960 The determination of metals in blood serum by atomic absorption spectroscopy. Spectrochim Acta 16:259272.
  • 36
    Heinonen JK, Lahti RJ 1981 A new and convenient colorimetric determination of inorganic orthophosphate and its application to the assay of inorganic pyrophosphatase. Anal Biochem 134:313317.
  • 37
    Cullity BD Elements of X-Ray Diffraction. Addison-Wesley, Reading, MA, U.S.A., pp. 96.
  • 38
    Hutterer F, Singer EJ 1960 A modified method for hydroxyproline determination. Anal Chem 32:556558.
  • 39
    Lehninger AL, Nelson DL, Cox MM Principles of Biochemistry. Worth Publishers, New York, NY, U.S.A., pp. 174.
  • 40
    Gadaleta SJ, Paschalis EP, Betts F, Mendelsohn R, Boskey AL 1996 Fourier transform infrared spectroscopy of the solution-mediated conversion of amorphous calcium phosphate to hydroxyapatite: New correlations between X-ray diffraction and infrared data. Calcif Tissue Int 58:916.
  • 41
    Lund AM, Skovby F, Schwartz M 1997 Substitutions in the alpha 1 and alpha 2 chains of collagen I: Effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta? Hum Mutat 9:431436.
  • 42
    Bonadio J, Jepsen KJ, Mansoura MK, Jaenisch R, Kuhn JL, Goldstein SA 1993 A murine skeletal adaptation that significantly increases cortical bone mechanical properties. Implications for human skeletal fragility. J Clin Invest 92:16971705.
  • 43
    Shapiro JR, Copley C, Goldsborough D, Gelman R, Barnhart K 1995 Effect of pamidronate on bone turnover and IGF-1 in type I osteogenesis imperfecta. J Bone Miner Res 10:S301.
  • 44
    Burstein AH, Zika JM, Heiple KG, Klein L 1975 Contribution of collagen and mineral to the elastic-plastic properties of bone. J Bone Joint Surg 57A:956961.
  • 45
    Currey JD 1969 The mechanical consequences of variation in the mineral content of bone. J Biomech 2:111.
  • 46
    Currey JD 1969 The relationship between the stiffness and the mineral content of bone. J Biomech 2:477480.
  • 47
    Fratzl P, Paris O, Klaushofer K, Landis WJ 1996 Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering. J Clin Invest 97:396402.
  • 48
    Landis WJ 1995 The strength of a calcified tissue depends in part on the molecular structure and organization of its constituent mineral crystals in their organic matrix. Bone 16:533544.
  • 49
    Vetter U, Weis MA, Morike M, Eanes ED, Eyre DR 1993 Collagen crosslinks and mineral crystallinity in bone of patients with osteogenesis imperfecta. J Bone Miner Res 8:133137.
  • 50
    Boskey AL, Rimnac CM, Bansal M, Federman M, Lian J, Boyan BD 1992 Effect of short-term hypomagnesemia on the chemical and mechanical properties of rat bone. J Orthop Res 10:774783.
  • 51
    Boskey AL, Gilder H, Neufeld E, Ecarot B, Glorieux FH 1991 Phospholipid changes in the bones of the hypophosphatemic mouse. Bone 12:345351.
  • 52
    Masse PG, Rimnac CM, Yamauchi M, Coburn SP, Rucker RB, Howell DS, Boskey AL 1996 Pyridoxine deficiency affects biomechanical properties of chick tibial bone. Bone 18:567574.
  • 53
    Spengler DM, Baylink DJ, Rosenquist JB 1977 Effect of beta-aminopropionitrile on bone mechanical properties. J Bone Joint Surg 59A:670672.
  • 54
    Mehta SS, Oz OK, Antich PP 1998 Bone elasticity and ultrasound velocity are affected by subtle changes in the organic matrix. J Bone Miner Res 13:114121.
  • 55
    Jepsen KJ, Schaffler MB, Kuhn JL, Goulet RW, Bonadio J, Goldstein SA 1997 Type I collagen mutation alters the strength and fatigue behavior of Mov13 cortical tissue. J Biomech 30:11411147.
  • 56
    Misof K, Landis WJ, Klaushofer K, Fratzl P 1997 Collagen from the osteogenesis imperfecta mouse model (oim) shows reduced resistance against tensile stress. J Clin Invest 100:4045.
  • 57
    McBride Jr DJ, Choe V, Shapiro JR, Brodsky B 1997 Altered collagen structure in mouse tail tendon lacking the alpha 2 (I) chain. J Mol Biol 270:275284.
  • 58
    Castells S 1973 New approaches to treatment of osteogenesis imperfecta. Clin Orthopaed Rel Res 93:239249.
  • 59
    Glorieux FH, Lanoue G, Travers R 1995 Rapid changes induced by pamidronate in children. J Bone Miner Res 10:S398.
  • 60
    Bembi B, Parma A, Bottega M, Ceschel S, Zanatta M, Martini C, Ciana G 1997 Intravenous pamidronate treatment in osteogenesis imperfecta. J Pediatr 131:622625.
  • 61
    Landsmeer-Beker EA, Massa GG, Van Maaswinkel-Mooy PD, de Kamp JJ, Papapoulos SE 1997 Treatment of osteogenesis imperfecta with the bisphosphonate olpadronate(dimethylaminohydroxypropylidene bisphosphonate). Eur J Pediatr 156:792794.
  • 62
    Brumsen C, Hamdy NA, Papapoulos SE 1997 Long-term effects of bisphosphonates on the growing skeleton: Studies of young patients with severe osteoporosis. Medicine (Baltimore) 76:266283.
  • 63
    Camacho NP, Brayton CF, Buckmeyer J, Raggio CL, Root L, Toledano TR, Boskey AL 1997 Evaluation of alendronate for treatment in an animal model of osteogenesis imperfecta. J Bone Miner Res 12:389.