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Volumn 88, Issue 10, 1999, Pages 1083-1088

Bone mineral content and collagen defects in osteogenesis imperfecta

Author keywords

Bone mineral content; Collagen; DXA; Osteogenesis imperfecta

Indexed keywords

COLLAGEN;

EID: 0032884118     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035259950168135     Document Type: Article
Times cited : (26)

References (29)
  • 1
    • 0018416379 scopus 로고
    • Genetic heterogeneity in osteogenesis imperfecta
    • Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16: 101-16
    • (1979) J Med Genet , vol.16 , pp. 101-116
    • Sillence, D.O.1    Senn, A.2    Danks, D.M.3
  • 2
    • 0027509286 scopus 로고
    • Linkage analysis in dominantly inherited osteogenesis imperfecta
    • Sykes B. Linkage analysis in dominantly inherited osteogenesis imperfecta. Am J Med Genet 1993; 45: 212-6
    • (1993) Am J Med Genet , vol.45 , pp. 212-216
    • Sykes, B.1
  • 3
    • 0026663287 scopus 로고
    • Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type 1 collagen
    • Willing MC, Pruchno CJ, Atkinson M, Byers PH. Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type 1 collagen. Am J Hum Genet 1992, 51: 508-15
    • (1992) Am J Hum Genet , vol.51 , pp. 508-515
    • Willing, M.C.1    Pruchno, C.J.2    Atkinson, M.3    Byers, P.H.4
  • 4
  • 5
    • 0021181518 scopus 로고
    • Cysteine in the triple-helical domain of one allelic product of the αI(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta
    • Steinmann B, Rao VH, Vogel A, Bruckner P, Gitzelmann R, Byers PH. Cysteine in the triple-helical domain of one allelic product of the αI(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem 1984; 259: 11129-38
    • (1984) J Biol Chem , vol.259 , pp. 11129-11138
    • Steinmann, B.1    Rao, V.H.2    Vogel, A.3    Bruckner, P.4    Gitzelmann, R.5    Byers, P.H.6
  • 6
    • 0030059552 scopus 로고    scopus 로고
    • Deletion of a Gly-Pro-Pro repeat in the proα2(1) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV
    • Lund AM, Skovby F, Schwartz M. Deletion of a Gly-Pro-Pro repeat in the proα2(1) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV. Hum Genet 1996: 97: 287-90
    • (1996) Hum Genet , vol.97 , pp. 287-290
    • Lund, A.M.1    Skovby, F.2    Schwartz, M.3
  • 7
    • 0029665663 scopus 로고    scopus 로고
    • Gly802Asp substitution in the proα2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism
    • Lund AM, Schwartz M, Raghunath M, Steinmann B, Skovby F. Gly802Asp substitution in the proα2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. Eur J Hum Genet 1996; 4: 39-45
    • (1996) Eur J Hum Genet , vol.4 , pp. 39-45
    • Lund, A.M.1    Schwartz, M.2    Raghunath, M.3    Steinmann, B.4    Skovby, F.5
  • 8
    • 0030965881 scopus 로고    scopus 로고
    • Serine for glycine substitutions in the C-terminal third of the α1(I) chain of collagen I in five patients with non-lethal osteogenesis imperfecta
    • Lund AM, Skovby F, Schwartz M. Serine for glycine substitutions in the C-terminal third of the α1(I) chain of collagen I in five patients with non-lethal osteogenesis imperfecta. Hum Mutat 1997; 9: 378-82
    • (1997) Hum Mutat , vol.9 , pp. 378-382
    • Lund, A.M.1    Skovby, F.2    Schwartz, M.3
  • 11
    • 0027400389 scopus 로고
    • Decreased bone mineral density in HLA-B27 positive members of a family with osteogenesis imperfecta
    • Escalante A, Beardmore TD. Decreased bone mineral density in HLA-B27 positive members of a family with osteogenesis imperfecta. J Rheumatol 1993; 20: 320-4
    • (1993) J Rheumatol , vol.20 , pp. 320-324
    • Escalante, A.1    Beardmore, T.D.2
  • 12
    • 0028299276 scopus 로고
    • Bone density in osteogenesis imperfecta may well be normal
    • Paterson CR, Mole PA. Bone density in osteogenesis imperfecta may well be normal. Postgrad Med J 1994; 70: 104-7
    • (1994) Postgrad Med J , vol.70 , pp. 104-107
    • Paterson, C.R.1    Mole, P.A.2
  • 13
    • 0028359009 scopus 로고
    • Bone mineral content and density in healthy subjects and in osteogenesis imperfecta
    • Davie MWJ, Haddaway MJ. Bone mineral content and density in healthy subjects and in osteogenesis imperfecta. Arch Dis Child 1994; 70: 331-4
    • (1994) Arch Dis Child , vol.70 , pp. 331-334
    • Davie, M.W.J.1    Haddaway, M.J.2
  • 14
    • 0024220957 scopus 로고
    • Total body and regional analysis by dual-photon absorptiometry in osteogenesis imperfecta
    • Nuti R, Right G, Turchetti V, Martini G, Lepore C. Total body and regional analysis by dual-photon absorptiometry in osteogenesis imperfecta. Ann NY Acad Sci 1988; 543: 180-5
    • (1988) Ann NY Acad Sci , vol.543 , pp. 180-185
    • Nuti, R.1    Right, G.2    Turchetti, V.3    Martini, G.4    Lepore, C.5
  • 16
    • 0032990522 scopus 로고    scopus 로고
    • Anthropometric measurements in patients with osteogenesis imperfecta
    • Lund AM, Müller J, Skovby F. Anthropometric measurements in patients with osteogenesis imperfecta. Arch Dis Child 1999; 80: 524-8
    • (1999) Arch Dis Child , vol.80 , pp. 524-528
    • Lund, A.M.1    Müller, J.2    Skovby, F.3
  • 17
    • 0030475863 scopus 로고    scopus 로고
    • Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1
    • Lund AM, Schwartz M, Skovby F. Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1. Clin Genet 1996; 50: 304-9
    • (1996) Clin Genet , vol.50 , pp. 304-309
    • Lund, A.M.1    Schwartz, M.2    Skovby, F.3
  • 18
    • 0030742706 scopus 로고    scopus 로고
    • Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent findings in families with osteogenesis imperfecta type III/IV
    • Lund AM, Nicholls AC, Schwartz M, Skovby F. Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent findings in families with osteogenesis imperfecta type III/IV. Acta Paediatr 1997; 86: 711-8
    • (1997) Acta Paediatr , vol.86 , pp. 711-718
    • Lund, A.M.1    Nicholls, A.C.2    Schwartz, M.3    Skovby, F.4
  • 19
    • 0029794061 scopus 로고    scopus 로고
    • Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains
    • Willing MC, Deschenes SP, Slayton R, Roberts EJ. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am J Hum Genet 1996; 59: 799-809
    • (1996) Am J Hum Genet , vol.59 , pp. 799-809
    • Willing, M.C.1    Deschenes, S.P.2    Slayton, R.3    Roberts, E.J.4
  • 20
  • 23
    • 0021922247 scopus 로고
    • Vertebral bone mineral content in osteogenesis imperfecta
    • Kurtz D, Morrish K, Shapiro J. Vertebral bone mineral content in osteogenesis imperfecta. Caleif Tissue Int 1985; 37: 14-8
    • (1985) Caleif Tissue Int , vol.37 , pp. 14-18
    • Kurtz, D.1    Morrish, K.2    Shapiro, J.3
  • 24
    • 0028018344 scopus 로고
    • Ultrastructural studies of bones from patients with osteogenesis imperfecta
    • Traub W, Arad T, Vetter U, Weiner S. Ultrastructural studies of bones from patients with osteogenesis imperfecta. Matrix Biol 1994; 14: 337-45
    • (1994) Matrix Biol , vol.14 , pp. 337-345
    • Traub, W.1    Arad, T.2    Vetter, U.3    Weiner, S.4
  • 25
    • 0022928247 scopus 로고
    • Scanning electron microscopy in bone pathology: Review of methods, potential and applications
    • Boyde A, Maconnachie E, Reid SA, Delling G, Mundy GR. Scanning electron microscopy in bone pathology: review of methods, potential and applications. Scan Electron Microsc 1986: 1537-54
    • (1986) Scan Electron Microsc , pp. 1537-1554
    • Boyde, A.1    Maconnachie, E.2    Reid, S.A.3    Delling, G.4    Mundy, G.R.5
  • 26
    • 0032190352 scopus 로고    scopus 로고
    • Cyclic administration of pamidronate in children with severe osteogenesis imperfecta
    • Glorieux F, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 1998; 339: 947-52
    • (1998) N Engl J Med , vol.339 , pp. 947-952
    • Glorieux, F.1    Bishop, N.J.2    Plotkin, H.3    Chabot, G.4    Lanoue, G.5    Travers, R.6
  • 27
    • 0030378373 scopus 로고    scopus 로고
    • Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis
    • Antoniazzi F, Bertoldo F, Mottes M, Valli M, Sirpresi S, Zamboni G, et al. Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis. J Pediatr 1996; 129: 432-9
    • (1996) J Pediatr , vol.129 , pp. 432-439
    • Antoniazzi, F.1    Bertoldo, F.2    Mottes, M.3    Vallie, M.4    Sirpresi, S.5    Zamboni, G.6
  • 28
    • 0032976690 scopus 로고    scopus 로고
    • Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta
    • Horwitz EM, Prockop DJ, Fitzpatrick LA, Koo WWK, Gordon PL, Neel M, et al. Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nature Med 1999; 5: 309-13
    • (1999) Nature Med , vol.5 , pp. 309-313
    • Horwitz, E.M.1    Prockop, D.J.2    Fitzpatrick, L.A.3    Koo, W.W.K.4    Gordon, P.L.5    Neel, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.