Osteogenesis imperfecta

Lancet

Volumn 363, Issue 9418, 2004, Pages 1377-1385

  Rauch, Frank ^a   Glorieux, Francis H ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALENDRONIC ACID; ALUMINUM; ANDROGEN; ARSENIC; ASCORBIC ACID; BISPHOSPHONIC ACID DERIVATIVE; CALCITONIN; CALCIUM; COLLAGEN TYPE 1; CORTISONE; ESTROGEN; FLUORIDE; GROWTH HORMONE; HORMONE; HYDROCHLORIC ACID; MAGNESIUM; MINERAL; NERIDRONIC ACID; OLPADRONIC ACID; PAMIDRONIC ACID; PARATHYROID HORMONE; PHOSPHATE; RETINOL; STRONTIUM; THYROXINE; VITAMIN D;

BONE DEFORMATION; CLINICAL FEATURE; CONFERENCE PAPER; CONVALESCENCE; DIAGNOSTIC PROCEDURE; DISEASE CLASSIFICATION; DISEASE SEVERITY; DOSE RESPONSE; DRUG EFFICACY; DRUG INFUSION; DRUG POTENCY; DRUG SAFETY; FEVER; FLU LIKE SYNDROME; GENE MUTATION; GENETIC CODE; HUMAN; LONG BONE; LONG TERM CARE; METAPHYSIS; NONHUMAN; OBESITY; ORTHOPEDICS; OSTEOGENESIS IMPERFECTA; OSTEOSARCOMA; PATHOGENESIS; PHYSIOTHERAPY; PRIORITY JOURNAL; RADIATION; RASH; SURGICAL TECHNIQUE; TREATMENT OUTCOME; UVEITIS; VOMITING;

EID: 1942501149     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(04)16051-0     Document Type: Conference Paper

References (128)

1. Shapiro JR, Stover ML, Burn VE, et al. An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen. J Clin Invest. 89:1992;567-573
2. Petersen K, Wetzel WE. Recent findings in classification of osteogenesis imperfecta by means of existing dental symptoms. ASDC J Dent Child. 65:1998;305-309
3. Lygidakis NA, Smith R, Oulis CJ. Scanning electron microscopy of teeth in osteogenesis imperfecta type I. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 81:1996;567-572
4. Lund AM, Jensen BL, Nielsen LA, Skovby F. Dental manifestations of osteogenesis imperfecta and abnormalities of collagen I metabolism. J Craniofac Genet Dev Biol. 18:1998;30-37
5. Malmgren B, Norgren S. Dental aberrations in children and adolescents with osteogenesis imperfecta. Acta Odontol Scand. 60:2002;65-71
6. Pedersen U. Hearing loss in patients with osteogenesis imperfecta: a clinical and audiological study of 201 patients. Scand Audiol. 13:1984;67-74
7. Kuurila K, Grenman R, Johansson R, Kaitila I. Hearing loss in children with osteogenesis imperfecta. Eur J Pediatr. 159:2000;515-519
8. Paterson CR, Monk EA, McAllion SJ. How common is hearing impairment in osteogenesis imperfecta? J Laryngol Otol. 115:2001;280-302
9. Kuurila K, Kaitila I, Johansson R, Grenman R. Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey. Ann Otol Rhinol Laryngol. 111:2002;939-946
10. Wenstrup RJ, Willing MC, Starman BJ, Byers PH. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet. 46:1990;975-982
11. Korkko J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Am J Hum Genet. 62:1998;98-110
12. Marlowe A, Pepin MG, Byers PH. Testing for osteogenesis imperfecta in cases of suspected non-accidental injury. J Med Genet. 39:2002;382-386
13. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 16:1979;101-116
14. Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res. 17:2002;30-38
15. Glorieux FH, Rauch F, Plotkin H, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 15:2000;1650-1658
16. Ward LM, Rauch F, Travers R, et al. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone. 31:2002;12-18
17. McAllion SJ, Paterson CR. Causes of death in osteogenesis imperfecta. J Clin Pathol. 49:1996;627-630
18. Paterson CR, Ogston SA, Henry RM. Life expectancy in osteogenesis imperfecta. BMJ. 312:1996;351
19. Rieker O, Kreitner KF, Karbowski A. Hyperplastic callus formation in osteogenesis imperfecta: CT and MRI findings. Eur Radiol. 8:1998;1137-1139
20. Dobrocky I, Seidl G, Grill F. MRI and CT features of hyperplastic callus in osteogenesis imperfecta tarda. Eur Radiol. 9:1999;665-668
21. Brenner RE, Schiller B, Pontz BF, et al. Osteogenesis imperfecta in Kindheit und Adoleszenz. Monatsschr Kinderheilkd. 141:1993;940-945
22. Sarathchandra P, Pope FM, Kayser MV, Ali SY. A light and electron microscopic study of osteogenesis imperfecta bone samples, with reference to collagen chemistry and clinical phenotype. J Pathol. 192:2000;385-395
23. Labuda M, Morissette J, Ward LM, et al. Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. Bone. 31:2002;19-25
24. McPherson E, Clemens M. Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case. Am J Med Genet. 70:1997;28-31
25. Bank RA, Robins SP, Wijmenga C, et al. Defective collagen crosslinking in bone, but not in ligament or in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. Proc Natl Acad Sci USA. 96:1999;1054-1058
26. Frontali M, Stomeo C, Dallapiccola B. Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. Am J Med Genet. 22:1985;35-47
27. Gong Y, Slee RB, Fukai N, et al. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. 107:2001;513-523
28. Cole DE, Fraser FC, Glorieux FH, et al. Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia. Am J Med Genet. 14:1983;725-735
29. Schwindinger WF, Francomano CA, Levine MA. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA. 89:1992;5152-5156
30. Whyte MP, Obrecht SE, Finnegan PM, et al. Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med. 347:2002;175-184
31. Cundy T, Hegde M, Naot D, et al. A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Hum Mol Genet. 11:2002;2119-2127
32. Whyte MP. Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev. 15:1994;439-461
33. Mornet E. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat. 15:2000;309-315
34. Cole DE, Carpenter TO. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. J Pediatr. 110:1987;76-80
35. Beighton P, Winship I, Behari D. The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome. Clin Genet. 28:1985;69-75
36. Smith R. Idiopathic juvenile osteoporosis: experience of twenty-one patients. Br J Rheumatol. 34:1995;68-77
37. Nimkin K, Kleinman PK. Imaging of child abuse. Radiol Clin North Am. 39:2001;843-864
38. Moore MS, Minch CM, Kruse RW, Harcke HT, Jacobson L, Taylor A. The role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta. Am J Orthop. 27:1998;797-801
39. Miller ME, Hangartner TN. Bone density measurements by computed tomography in osteogenesis imperfecta type I. Osteoporos Int. 9:1999;427-432
40. Kadler KE, Holmes DF, Trotter JA, Chapman JA. Collagen fibril formation. Biochem J. 316:1996;1-11
41. Byers PH. Osteogenesis imperfecta: perspectives and opportunities. Curr Opin Pediatr. 12:2000;603-609
42. Rowe DW, Shapiro JR. Osteogenesis imperfecta. Avioli LV, Krane SM. Metabolic bone disease and clinically related disorders. 3rd edn:1998;651-695 San Diego Academic Press
43. Willing MC, Deschenes SP, Slayton RL, Roberts EJ. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am J Hum Genet. 59:1996;799-809
44. Byers PH. Killing the messenger: new insights into nonsense-mediated mRNA decay. J Clin Invest. 109:2002;3-6
45. Sarafova AP, Choi H, Forlino A, et al. Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. Hum Mutat. 11:1998;395-403
46. Cabral WA, Chernoff EJ, Marini JC. G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix. Mol Genet Metab. 72:2001;326-335
47. Cabral WA, Fertala A, Green LK, Korkko J, Forlino A, Marini JC. Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology. J Biol Chem. 277:2002;4215-4222
48. Galicka A, Wolczynski S, Gindzienski A. Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV. J Pathol. 196:2002;235-237
49. Mundlos S, Chan D, Weng YM, Sillence DO, Cole WG, Bateman JF. Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB: molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix. J Biol Chem. 271:1996;21068-21074
50. Fedarko NS, Robey PG, Vetter UK. Extracellular matrix stoichiometry in osteoblasts from patients with osteogenesis imperfecta. J Bone Miner Res. 10:1995;1122-1129
51. Fedarko NS, Sponseller PD, Shapiro JR. Long-term extracellular matrix metabolism by cultured human osteogenesis imperfecta osteoblasts. J Bone Miner Res. 11:1996;800-805
52. Grzesik WJ, Frazier CR, Shapiro JR, Sponsellor PD, Robey PG, Fedarko NS. Age-related changes in human bone proteoglycan structure: impact of osteogenesis imperfecta. J Biol Chem. 277:2002;43638-43647
53. Boyde A, Travers R, Glorieux FH, Jones SJ. The mineralization density of iliac crest bone from children with osteogenesis imperfecta. Calcif Tissue Int. 64:1999;185-190
54. Fratzl P, Paris O, Klaushofer K, Landis WJ. Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering. J Clin Invest. 97:1996;396-402
55. Camacho NP, Hou L, Toledano TR, et al. The material basis for reduced mechanical properties in oim mice bones. J Bone Miner Res. 14:1999;264-272
56. Grabner B, Landis WJ, Roschger P, et al. Age- and genotype-dependence of bone material properties in the osteogenesis imperfecta murine model (oim). Bone. 29:2001;453-457
57. Misof K, Landis WJ, Klaushofer K, Fratzl P. Collagen from the osteogenesis imperfecta mouse model (oim) shows reduced resistance against tensile stress. J Clin Invest. 100:1997;40-45
58. Jepsen KJ, Goldstein SA, Kuhn JL, Schaffler MB, Bonadio J. Type-I collagen mutation compromises the post-yield behavior of Mov13 long bone. J Orthop Res. 14:1996;493-499
59. Jepsen KJ, Schaffler MB, Kuhn JL, Goulet RW, Bonadio J, Goldstein SA. Type I collagen mutation alters the strength and fatigue behavior of Mov13 cortical tissue. J Biomech. 30:1997;1141-1147
60. Rauch F, Travers R, Parfitt AM, Glorieux FH. Static and dynamic bone histomorphometry in children with osteogenesis imperfecta. Bone. 26:2000;581-589
61. Engelbert RH, Pruijs HE, Beemer FA, Helders PJ. Osteogenesis imperfecta in childhood: treatment strategies. Arch Phys Med Rehabil. 79:1998;1590-1594
62. Zeitlin L, Fassier F, Glorieux FH. Modern approach to children with osteogenesis imperfecta. J Pediatr Orthop B. 12:2003;77-87
63. Engelbert RH, Beemer FA, van der Graaf Y, Helders PJ. Osteogenesis imperfecta in childhood: impairment and disability: a follow-up study. Arch Phys Med Rehabil. 80:1999;896-903
64. Gerber LH, Binder H, Berry R, et al. Effects of withdrawal of bracing in matched pairs of children with osteogenesis imperfecta. Arch Phys Med Rehabil. 79:1998;46-51
65. Wilkinson JM, Scott BW, Clarke AM, Bell MJ. Surgical stabilisation of the lower limb in osteogenesis imperfecta using the Sheffield Telescopic Intramedullary Rod System. J Bone Joint Surg Br. 80:1998;999-1004
66. Karbowski A, Schwitalle M, Brenner R, Lehmann H, Pontz B, Worsdorfer O. Experience with Bailey-Dubow rodding in children with osteogenesis imperfecta. Eur J Pediatr Surg. 10:2000;119-124
67. Albright JA. Systemic treatment of osteogenesis imperfecta. Clin Orthop. 159:1981;88-96
68. Devogelaer JP, Malghem J, Maldague B, Nagant de Deuxchaisnes C. Radiological manifestations of bisphosphonate treatment with APD in a child suffering from osteogenesis imperfecta. Skeletal Radiol. 16:1987;360-363
69. Fleisch H. Bisphosphonates: mechanisms of action. Endocr Rev. 19:1998;80-100
70. Fisher JE, Rogers MJ, Halasy JM, et al. Alendronate mechanism of action: geranylgeraniol, an intermediate in the mevalonate pathway, prevents inhibition of osteoclast formation, bone resorption, and kinase activation in vitro. Proc Natl Acad Sci USA. 96:1999;133-138
71. Halasy-Nagy JM, Rodan GA, Reszka AA. Inhibition of bone resorption by alendronate and risedronate does not require osteoclast apoptosis. Bone. 29:2001;553-559
72. Huaux JP, Lokietek W. Is APD a promising drug in the treatment of severe osteogenesis imperfecta? J Pediatr Orthop. 8:1988;71-72
73. Landsmeer-Beker EA, Massa GG, Maaswinkel-Mooy PD, van de Kamp JJ, Papapoulos SE. Treatment of osteogenesis imperfecta with the bisphosphonate olpadronate (dimethylaminohydroxypropylidene bisphosphonate). Eur J Pediatr. 156:1997;792-794
74. Brumsen C, Hamdy NA, Papapoulos SE. Long-term effects of bisphosphonates on the growing skeleton: studies of young patients with severe osteoporosis. Medicine (Baltimore). 76:1997;266-283
75. Bembi B, Parma A, Bottega M, et al. Intravenous pamidronate treatment in osteogenesis imperfecta. J Pediatr. 131:1997;622-625
76. Astrom E, Soderhall S. Beneficial effect of bisphosphonate during five years of treatment of severe osteogenesis imperfecta. Acta Paediatr. 87:1998;64-68
77. Plotkin H, Rauch F, Bishop NJ, et al. Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. J Clin Endocrinol Metab. 85:2000;1846-1850
78. Rauch F, Plotkin H, Zeitlin L, Glorieux FH. Bone mass, size and density in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate therapy. J Bone Miner Res. 18:2003;610-614
79. Zeitlin L, Rauch F, Plotkin H, Glorieux FH. Height and weight development during long-term therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III and IV. Pediatrics. 111:2003;1030-1036
80. Rauch F, Travers R, Plotkin H, Glorieux FH. The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta. J Clin Invest. 110:2002;1293-1299
81. Rauch F, Plotkin H, Travers R, Zeitlin L, Glorieux FH. Osteogenesis imperfecta types I, III and IV: effect of pamidronate therapy on bone and mineral metabolism. J Clin Endocrinol Metab. 88:2003;986-992
82. Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med. 339:1998;947-952
83. Astrom E, Soderhall S. Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta. Arch Dis Child. 86:2002;356-364
84. Zacharin M, Bateman J. Pamidronate treatment of osteogenesis imperfecta: lack of correlation between clinical severity, age at onset of treatment, predicted collagen mutation and treatment response. J Pediatr Endocrinol Metab. 15:2002;163-174
85. Montpetit K, Plotkin H, Rauch F, et al. Rapid increase in grip force after start of pamidronate therapy in children and adolescents with severe osteogenesis imperfecta. Pediatrics. 111:2003;e601-603
86. Lee YS, Low SL, Lim LA, Loke KY. Cyclic pamidronate infusion improves bone mineralisation and reduces fracture incidence in osteogenesis imperfecta. Eur J Pediatr. 160:2001;641-644
87. Banerjee I, Shortland GJ, Evans WD, Gregory JW. Osteogenesis imperfecta and intravenous pamidronate. Arch Dis Child. 87:2002;562-563
88. Giraud F, Meunier PJ. Effect of cyclical intravenous pamidronate therapy in children with osteogenesis imperfecta: open-label study in seven patients. Joint Bone Spine. 69:2002;486-490
89. Shapiro JR, McCarthy EF, Rossiter K, et al. The effect of intravenous pamidronate on bone mineral density, bone histomorphometry, and parameters of bone turnover in adults with type IA osteogenesis imperfecta. Calcif Tissue Int 2003; 103-112.
90. Adami S, Gatti D, Colapietro F, et al. Intravenous neridronate in adults with osteogenesis imperfecta. J Bone Miner Res. 18:2003;126-130
91. Grissom LE, Harcke HT. Radiographic features of bisphosphonate therapy in pediatric patients. Pediatr Radiol. 33:2003;226-229
92. Falk MJ, Heeger S, Lynch KA, et al. Intravenous bisphosphonate therapy in children with osteogenesis imperfecta. Pediatrics. 111:2003;573-578
93. Maasalu K, Haviko T, Martson A. Treatment of children with osteogenesis imperfecta in Estonia. Acta Paediatr. 92:2003;452-455
94. Roldan EJ, Pasqualini T, Plantalech L. Bisphosphonates in children with osteogenesis imperfecta may improve bone mineralization but not bone strength: report of two patients. J Pediatr Endocrinol Metab. 12:1999;555-559
95. Frost HM. Skeletal structural adaptations to mechanical usage (SATMU): 1, redefining Wolff's law: the bone modeling problem. Anat Rec. 226:1990;403-413
96. Frost HM. Skeletal structural adaptations to mechanical usage (SATMU): 2, redefining Wolff's law: the remodeling problem. Anat Rec. 226:1990;414-422
97. Fazzalari NL, Moore AJ, Byers S, Byard RW. Quantitative analysis of trabecular morphogenesis in the human costochondral junction during the postnatal period in normal subjects. Anat Rec. 248:1997;1-12
98. Paterson CR, McAllion S, Stellman JL. Osteogenesis imperfecta after the menopause. N Engl J Med. 310:1984;1694-1696
99. Srivastava T, Alon US. Bisphosphonates: from grandparents to grandchildren. Clin Pediatr (Phila). 38:1999;687-702
100. Schenk R, Eggli P, Fleisch H, Rosini S. Quantitative morphometric evaluation of the inhibitory activity of new aminobisphosphonates on bone resorption in the rat. Calcif Tissue Int. 38:1986;342-349
101. Evans KD, Lau ST, Oberbauer AM, Martin RB. Alendronate affects long bone length and growth plate morphology in the oim mouse model for osteogenesis imperfecta. Bone. 32:2003;268-274
102. Khan SA, Kanis JA, Vasikaran S, et al. Elimination and biochemical responses to intravenous alendronate in postmenopausal osteoporosis. J Bone Miner Res. 12:1997;1700-1707
103. Parfitt AM, Mundy GR, Roodman GD, Hughes DE, Boyce BF. A new model for the regulation of bone resorption, with particular reference to the effects of bisphosphonates. J Bone Miner Res. 11:1996;150-209
104. Whyte MP, Wenkert D, Clements KL, McAlister WH, Mumm S. Bisphosphonate-induced osteopetrosis. N Engl J Med. 349:2003;457-463
105. Bikle DD, Morey-Holton ER, Doty SB, Currier PA, Tanner SJ, Halloran BP. Alendronate increases skeletal mass of growing rats during unloading by inhibiting resorption of calcified cartilage. J Bone Miner Res. 9:1994;1777-1787
106. Roschger P, Grabner BM, Rinnerthaler S, et al. Structural development of the mineralized tissue in the human L4 vertebral body. J Struct Biol. 136:2001;126-136
107. Burr DB. Targeted and nontargeted remodeling. Bone. 30:2002;2-4
108. Kruse HP, Kuhlencordt F. On an attempt to treat primary and secondary osteoporosis with human growth hormone. Horm Metab Res. 7:1975;488-491
109. Antoniazzi F, Bertoldo F, Mottes M, et al. Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis. J Pediatr. 129:1996;432-439
110. Vieira NE, Marini JC, Hopkins E, Abrams SA, Yergey AL. Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV. Bone. 25:1999;501-505
111. Marini JC, Hopkins E, Glorieux FH, et al. Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagen. J Bone Miner Res. 18:2003;237-243
112. Neer RM, Arnaud CD, Zanchetta JR, et al. Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis. N Engl J Med. 344:2001;1434-1441
113. Vahle JL, Sato M, Long GG, et al. Skeletal changes in rats given daily subcutaneous injections of recombinant human parathyroid hormone (1-34) for 2 years and relevance to human safety. Toxicol Pathol. 30:2002;312-321
114. Kuijpers G, Schneider B, Stadel B, Colman E. Recombinant human parathyroid hormone. Preclinical data on rat osteosarcoma were not dismissed. BMJ. 324:2002;1218
115. Bianco P, Gehron Robey P. Marrow stromal stem cells. J Clin Invest. 105:2000;1663-1668
116. Horwitz EM, Prockop DJ, Fitzpatrick LA, et al. Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nat Med. 5:1999;309-313
117. Horwitz EM, Prockop DJ, Gordon PL, et al. Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood. 97:2001;1227-1231
118. Gerson SL. Mesenchymal stem cells: no longer second class marrow citizens. Nat Med. 5:1999;262-264
119. Marini JC. Osteogenesis imperfecta calls for caution. Nat Med. 5:1999;466-467
120. Bishop NJ. Osteogenesis imperfecta calls for caution. Nat Med. 5:1999;466-467
121. Smith R. Severe osteogenesis imperfecta: new therapeutic options? BMJ. 322:2001;63-64
122. Horwitz EM, Gordon PL, Koo WK, et al. Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: implications for cell therapy of bone. Proc Natl Acad Sci USA. 99:2002;8932-8937
123. Forlino A, Marini JC. Osteogenesis imperfecta: prospects for molecular therapeutics. Mol Genet Metab. 71:2000;225-232
124. Dawson PA, Marini JC. Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts. Nucleic Acids Res. 28:2000;4013-4020
125. Toudjarska I, Kilpatrick MW, Niu J, Wenstrup RJ, Tsipouras P. Delivery of a hammerhead ribozyme specifically downregulates mutant type I collagen mRNA in a murine model of osteogenesis imperfecta. Antisense Nucleic Acid Drug Dev. 11:2001;341-346
126. Millington-Ward S, Allers C, Tuohy G, et al. Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta. Hum Mol Genet. 11:2002;2201-2206
127. Doudna JA, Cech TR. The chemical repertoire of natural ribozymes. Nature. 418:2002;222-228
128. Liu P, Kalajzic I, Stover ML, Rowe DW, Lichtler AC. Human bone marrow stromal cells are efficiently transduced by vesicular stomatitis virus-pseudotyped retrovectors without affecting subsequent osteoblastic differentiation. Bone. 29:2001;331-335