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Volumn 86, Issue 11, 2010, Pages 743-746

Characterising and treating osteogenesis imperfecta

Author keywords

Bisphosphonates; Bone density; Fractures; Infant; Osteoporosis

Indexed keywords

ALKALINE PHOSPHATASE; BISPHOSPHONIC ACID DERIVATIVE; ENB 0040; PAMIDRONIC ACID; UNCLASSIFIED DRUG;

EID: 78049259511     PISSN: 03783782     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.earlhumdev.2010.08.002     Document Type: Article
Times cited : (64)

References (29)
  • 1
    • 72449183578 scopus 로고    scopus 로고
    • Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. Cell Tissue Res
    • Marini JC, Cabral WA, Barnes AM. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. Cell Tissue Res 2010; 339(1):59-70.
    • (2010) , vol.339 , Issue.1 , pp. 59-70
    • Marini, J.C.1    Cabral W.A.Barnes, A.M.2
  • 2
    • 0018416379 scopus 로고
    • Genetic heterogeneity in osteogenesis imperfecta
    • Sillence D.O., Senn A., Danks D.M. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979, 16(2):101-116.
    • (1979) J Med Genet , vol.16 , Issue.2 , pp. 101-116
    • Sillence, D.O.1    Senn, A.2    Danks, D.M.3
  • 4
    • 77949262259 scopus 로고    scopus 로고
    • Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet
    • Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S,. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet 2010; 86(3):389-98.
    • (2010) , vol.86 , Issue.3 , pp. 389-98
    • Christiansen, H.E.1    Schwarze, U.2    Pyott, S.M.3    AlSwaid, A.4    Al Balwi, M.5    Alrasheed, S.6
  • 5
    • 77950381244 scopus 로고    scopus 로고
    • Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet
    • Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2010; 86(4):551-9.
    • (2010) , vol.86 , Issue.4 , pp. 551-9
    • Alanay, Y.1    Avaygan, H.2    Camacho, N.3    Utine, G.E.4    Boduroglu, K.5    Aktas, D.6
  • 6
    • 0033819621 scopus 로고    scopus 로고
    • Collagens: building blocks at the end of the development line
    • Byers P.H. Collagens: building blocks at the end of the development line. Clin Genet 2000, 58(4):270-279.
    • (2000) Clin Genet , vol.58 , Issue.4 , pp. 270-279
    • Byers, P.H.1
  • 7
    • 0027175806 scopus 로고
    • Basic biomechanical measurements of bone: a tutorial
    • Turner C.H., Burr D.B. Basic biomechanical measurements of bone: a tutorial. Bone 1993, 14(4):595-608.
    • (1993) Bone , vol.14 , Issue.4 , pp. 595-608
    • Turner, C.H.1    Burr, D.B.2
  • 8
    • 0036841117 scopus 로고    scopus 로고
    • The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta
    • Rauch F., Travers R., Plotkin H., Glorieux F.H. The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta. J Clin Invest 2002, 110(9):1293-1299.
    • (2002) J Clin Invest , vol.110 , Issue.9 , pp. 1293-1299
    • Rauch, F.1    Travers, R.2    Plotkin, H.3    Glorieux, F.H.4
  • 9
    • 33847227672 scopus 로고    scopus 로고
    • 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 J.C., Forlino A., Cabral W.A., et al. 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. Hum Mutat 2007, 28(3):209-221.
    • (2007) Hum Mutat , vol.28 , Issue.3 , pp. 209-221
    • Marini, J.C.1    Forlino, A.2    Cabral, W.A.3
  • 10
    • 34548240257 scopus 로고    scopus 로고
    • Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development
    • Marini J.C., Cabral W.A., Barnes A.M., Chang W. Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development. Cell Cycle 2007, 6(14):1675-1681.
    • (2007) Cell Cycle , vol.6 , Issue.14 , pp. 1675-1681
    • Marini, J.C.1    Cabral, W.A.2    Barnes, A.M.3    Chang, W.4
  • 11
    • 76649130557 scopus 로고    scopus 로고
    • Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med
    • Barnes AM, Carter EM, Cabral WA, Weis M, Chang W, Makareeva E, Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med 2010; 362(6):521-8.
    • (2010) , vol.362 , Issue.6 , pp. 521-8
    • Barnes, A.M.1    Carter, E.M.2    Cabral, W.A.3    Weis, M.4    Chang, W.5    Makareeva, E.6
  • 12
    • 33845866114 scopus 로고    scopus 로고
    • Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
    • Barnes A.M., Chang W., Morello R., et al. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 2006, 355(26):2757-2764.
    • (2006) N Engl J Med , vol.355 , Issue.26 , pp. 2757-2764
    • Barnes, A.M.1    Chang, W.2    Morello, R.3
  • 13
    • 33847321022 scopus 로고    scopus 로고
    • Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
    • Cabral W.A., Chang W., Barnes A.M., et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet 2007, 39(3):359-365.
    • (2007) Nat Genet , vol.39 , Issue.3 , pp. 359-365
    • Cabral, W.A.1    Chang, W.2    Barnes, A.M.3
  • 14
    • 33750207868 scopus 로고    scopus 로고
    • CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta
    • Morello R., Bertin T.K., Chen Y., et al. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 2006, 127(2):291-304.
    • (2006) Cell , vol.127 , Issue.2 , pp. 291-304
    • Morello, R.1    Bertin, T.K.2    Chen, Y.3
  • 15
    • 0036309236 scopus 로고    scopus 로고
    • Osteogenesis imperfecta type VII maps to the short arm of chromosome 3
    • Labuda M., Morissette J., Ward L.M., et al. Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. Bone 2002, 31(1):19-25.
    • (2002) Bone , vol.31 , Issue.1 , pp. 19-25
    • Labuda, M.1    Morissette, J.2    Ward, L.M.3
  • 16
    • 0036317297 scopus 로고    scopus 로고
    • Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease
    • Ward L.M., Rauch F., Travers R., et al. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone 2002, 31(1):12-18.
    • (2002) Bone , vol.31 , Issue.1 , pp. 12-18
    • Ward, L.M.1    Rauch, F.2    Travers, R.3
  • 17
    • 77955084141 scopus 로고    scopus 로고
    • Caparrós-Martín JA, Valencia M, Letón R, Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet
    • Lapunzina P, Aglan M, Temtamy S, Caparrós-Martín JA, Valencia M, Letón R, Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet 2010; 87(1):110-4.
    • (2010) , vol.87 , Issue.1 , pp. 110-4
    • Lapunzina, P.1    Aglan, M.2    Temtamy, S.3
  • 18
    • 0033848677 scopus 로고    scopus 로고
    • Type V osteogenesis imperfecta: a new form of brittle bone disease
    • Glorieux F.H., Rauch F., Plotkin H., et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 2000, 15(9):1650-1658.
    • (2000) J Bone Miner Res , vol.15 , Issue.9 , pp. 1650-1658
    • Glorieux, F.H.1    Rauch, F.2    Plotkin, H.3
  • 19
    • 0036133709 scopus 로고    scopus 로고
    • Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect
    • Glorieux F.H., Ward L.M., Rauch F., Lalic L., Roughley P.J., Travers R. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res 2002, 17(1):30-38.
    • (2002) J Bone Miner Res , vol.17 , Issue.1 , pp. 30-38
    • Glorieux, F.H.1    Ward, L.M.2    Rauch, F.3    Lalic, L.4    Roughley, P.J.5    Travers, R.6
  • 20
    • 5444235525 scopus 로고    scopus 로고
    • Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy
    • Waller S., Kurzawinski T., Spitz L., et al. Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy. Eur J Pediatr 2004, 163(10):589-594.
    • (2004) Eur J Pediatr , vol.163 , Issue.10 , pp. 589-594
    • Waller, S.1    Kurzawinski, T.2    Spitz, L.3
  • 21
    • 33947230323 scopus 로고    scopus 로고
    • Unexplained fractures in infancy: looking for fragile bones
    • Bishop N., Sprigg A., Dalton A. Unexplained fractures in infancy: looking for fragile bones. Arch Dis Child 2007, 92(3):251-256.
    • (2007) Arch Dis Child , vol.92 , Issue.3 , pp. 251-256
    • Bishop, N.1    Sprigg, A.2    Dalton, A.3
  • 22
    • 33746386370 scopus 로고    scopus 로고
    • Early bisphosphonate treatment in infants with severe osteogenesis imperfecta
    • Antoniazzi F., Zamboni G., Lauriola S., Donadi L., Adami S., Tato L. Early bisphosphonate treatment in infants with severe osteogenesis imperfecta. J Pediatr 2006, 149(2):174-179.
    • (2006) J Pediatr , vol.149 , Issue.2 , pp. 174-179
    • Antoniazzi, F.1    Zamboni, G.2    Lauriola, S.3    Donadi, L.4    Adami, S.5    Tato, L.6
  • 23
    • 34047230158 scopus 로고    scopus 로고
    • Intravenous pamidronate treatment of infants with severe osteogenesis imperfecta
    • Astrom E., Jorulf H., Soderhall S. Intravenous pamidronate treatment of infants with severe osteogenesis imperfecta. Arch Dis Child 2007, 92(4):332-338.
    • (2007) Arch Dis Child , vol.92 , Issue.4 , pp. 332-338
    • Astrom, E.1    Jorulf, H.2    Soderhall, S.3
  • 24
    • 0036880949 scopus 로고    scopus 로고
    • Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant
    • Chien Y.H., Chu S.Y., Hsu C.C., Hwu W.L. Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant. J Inherit Metab Dis 2002, 25(7):593-595.
    • (2002) J Inherit Metab Dis , vol.25 , Issue.7 , pp. 593-595
    • Chien, Y.H.1    Chu, S.Y.2    Hsu, C.C.3    Hwu, W.L.4
  • 25
    • 8444229279 scopus 로고    scopus 로고
    • Intravenous pamidronate treatment of children under 36months of age with osteogenesis imperfecta
    • DiMeglio L.A., Ford L., McClintock C., Peacock M. Intravenous pamidronate treatment of children under 36months of age with osteogenesis imperfecta. Bone 2004, 35(5):1038-1045.
    • (2004) Bone , vol.35 , Issue.5 , pp. 1038-1045
    • DiMeglio, L.A.1    Ford, L.2    McClintock, C.3    Peacock, M.4
  • 26
    • 0034458026 scopus 로고    scopus 로고
    • Pamidronate treatment of severe osteogenesis imperfecta in children under 3years of age
    • Plotkin H., Rauch F., Bishop N.J., et al. Pamidronate treatment of severe osteogenesis imperfecta in children under 3years of age. J Clin Endocrinol Metab 2000, 85(5):1846-1850.
    • (2000) J Clin Endocrinol Metab , vol.85 , Issue.5 , pp. 1846-1850
    • Plotkin, H.1    Rauch, F.2    Bishop, N.J.3
  • 27
    • 44349175453 scopus 로고    scopus 로고
    • Two doses of pamidronate in infants with osteogenesis imperfecta
    • Senthilnathan S., Walker E., Bishop N.J. Two doses of pamidronate in infants with osteogenesis imperfecta. Arch Dis Child 2008, 93(5):398-400.
    • (2008) Arch Dis Child , vol.93 , Issue.5 , pp. 398-400
    • Senthilnathan, S.1    Walker, E.2    Bishop, N.J.3
  • 28
    • 60849108372 scopus 로고    scopus 로고
    • Growth of infants with osteogenesis imperfecta treated with bisphosphonate
    • Hasegawa K., Inoue M., Seino Y., Morishima T., Tanaka H. Growth of infants with osteogenesis imperfecta treated with bisphosphonate. Pediatr Int 2009, 51(1):54-58.
    • (2009) Pediatr Int , vol.51 , Issue.1 , pp. 54-58
    • Hasegawa, K.1    Inoue, M.2    Seino, Y.3    Morishima, T.4    Tanaka, H.5
  • 29
    • 2942702068 scopus 로고    scopus 로고
    • Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta
    • Munns C.F., Rauch F., Mier R.J., Glorieux F.H. Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta. Bone 2004, 35(1):231-234.
    • (2004) Bone , vol.35 , Issue.1 , pp. 231-234
    • Munns, C.F.1    Rauch, F.2    Mier, R.J.3    Glorieux, F.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.