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Volumn 22, Issue 3, 2013, Pages 93-101

Genotype-phenotype study in type v osteogenesis imperfecta

Author keywords

fractures; hypertrophic callus formation; interosseus membrane ossification; type V osteogenesis imperfecta

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; COLLAGEN; INTERFERON INDUCED TRANSMEMBRANE PROTEIN 5; MEMBRANE PROTEIN; PAMIDRONIC ACID; UNCLASSIFIED DRUG;

EID: 84879897355     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32836032f0     Document Type: Article
Times cited : (34)

References (24)
  • 1
    • 77950381244 scopus 로고    scopus 로고
    • Mutations in the gene encoding the RER protein FKBP65 cause autosomalrecessive osteogenesis imperfecta
    • Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, et al. (2010). Mutations in the gene encoding the RER protein FKBP65 cause autosomalrecessive osteogenesis imperfecta. Am J Hum Genet 86:551-559.
    • (2010) Am J Hum Genet , vol.86 , pp. 551-559
    • Alanay, Y.1    Avaygan, H.2    Camacho, N.3    Utine, G.E.4    Boduroglu, K.5    Aktas, D.6
  • 2
    • 79953064883 scopus 로고    scopus 로고
    • Evolution of the radiographic appearance of the metaphyses over the first year of life in type v osteogenesis imperfecta: Clues to pathogenesis
    • Arundel P, Offiah A, Bishop NJ (2011). Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: clues to pathogenesis. J Bone Miner Res 26:894-898.
    • (2011) J Bone Miner Res , vol.26 , pp. 894-898
    • Arundel, P.1    Offiah, A.2    Bishop, N.J.3
  • 4
    • 78049259511 scopus 로고    scopus 로고
    • Characterising and treating osteogenesis imperfecta
    • Bishop NJ (2010). Characterising and treating osteogenesis imperfecta. Early Hum Dev 86:743-746.
    • (2010) Early Hum Dev , vol.86 , pp. 743-746
    • Bishop, N.J.1
  • 5
    • 33746913118 scopus 로고    scopus 로고
    • Genetic evaluation of suspected osteogenesis imperfecta (OI)
    • DOI 10.1097/01.gim.0000223557.54670.aa, PII 0012581720060600000009
    • Byers PH, Krakow D, Nunes ME, Pepin M (2006). Genetic evaluation of suspected osteogenesis imperfecta (OI). Genet Med 8:383-388. (Pubitemid 44297311)
    • (2006) Genetics in Medicine , vol.8 , Issue.6 , pp. 383-388
    • Byers, P.H.1    Krakow, D.2    Nunes, M.E.3    Pepin, M.4
  • 6
    • 84864946186 scopus 로고    scopus 로고
    • A single recurrent mutation in the 50-UTR of IFITM5 causes osteogenesis imperfecta type v
    • Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, et al. (2012). A single recurrent mutation in the 50-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet 91:343-348.
    • (2012) Am J Hum Genet , vol.91 , pp. 343-348
    • Cho, T.J.1    Lee, K.E.2    Lee, S.K.3    Song, S.J.4    Kim, K.J.5    Jeon, D.6
  • 7
    • 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
    • Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, et al. (2010). Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet 86:389-398.
    • (2010) Am J Hum Genet , vol.86 , pp. 389-398
    • Christiansen, H.E.1    Schwarze, U.2    Pyott, S.M.3    Alswaid, A.4    Al Balwi, M.5    Alrasheed, S.6
  • 9
    • 18244401096 scopus 로고    scopus 로고
    • Caffey disease: An unlikely collagenopathy
    • DOI 10.1172/JCI200525148
    • Glorieux FH (2005). Caffey disease: an unlikely collagenopathy. J Clin Invest 115:1142-1144. (Pubitemid 40629031)
    • (2005) Journal of Clinical Investigation , vol.115 , Issue.5 , pp. 1142-1144
    • Glorieux, F.H.1
  • 12
    • 35348922702 scopus 로고    scopus 로고
    • Syndromes affecting bone: The osteogenesis imperfectas
    • Oxford Monographs on Medical Genetics. Oxford: Oxford University Press
    • Gorlin RJ, Cohen MM, Hennekam RCM (2001). Syndromes affecting bone: the osteogenesis imperfectas. Syndromes of the head and neck. Oxford Monographs on Medical Genetics. Oxford: Oxford University Press.
    • (2001) Syndromes of the Head and Neck
    • Gorlin, R.J.1    Cohen, M.M.2    Hennekam, R.C.M.3
  • 13
    • 79960023285 scopus 로고    scopus 로고
    • Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice
    • Hanagata N, Li X, Morita H, Takemura T, Li J, Minowa T (2011). Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice. J Bone Miner Metab 29:279-290.
    • (2011) J Bone Miner Metab , vol.29 , pp. 279-290
    • Hanagata, N.1    Li, X.2    Morita, H.3    Takemura, T.4    Li, J.5    Minowa, T.6
  • 14
    • 77955084141 scopus 로고    scopus 로고
    • Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta
    • Lapunzina P, Aglan M, Temtamy S, Caparrós-Mart?́n JA, Valencia M, Letón R, et al. (2010). Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet 87:110-114.
    • (2010) Am J Hum Genet , vol.87 , pp. 110-114
    • Lapunzina, P.1    Aglan, M.2    Temtamy, S.3    Caparrós-Martín, J.A.4    Valencia, M.5    Letón, R.6
  • 15
    • 33847227672 scopus 로고    scopus 로고
    • Consortium for osteogenesis imperfecta mutations in the helical domain of type 1 collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
    • Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, et al. (2007). Consortium for osteogenesis imperfecta mutations in the helical domain of type 1 collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat 28:209-221.
    • (2007) Hum Mutat , vol.28 , pp. 209-221
    • Marini, J.C.1    Forlino, A.2    Cabral, W.A.3    Barnes, A.M.4    San Antonio, J.D.5    Milgrom, S.6
  • 16
    • 84857790992 scopus 로고    scopus 로고
    • Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
    • Martinez-Glez V, Valencia M, Caparros-Martin JA, Aglan M, Temtamy S, Tenorio J, et al. (2012). Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat 33:343-350.
    • (2012) Hum Mutat , vol.33 , pp. 343-350
    • Martinez-Glez, V.1    Valencia, M.2    Caparros-Martin, J.A.3    Aglan, M.4    Temtamy, S.5    Tenorio, J.6
  • 17
    • 1942501149 scopus 로고    scopus 로고
    • Osteogenesis imperfecta
    • DOI 10.1016/S0140-6736(04)16051-0, PII S0140673604160510
    • Rauch F, Glorieux FH (2004). Osteogenesis imperfecta. Lancet 363:1377-1385. (Pubitemid 38529880)
    • (2004) Lancet , vol.363 , Issue.9418 , pp. 1377-1385
    • Rauch, F.1    Glorieux, F.H.2
  • 18
    • 0036620648 scopus 로고    scopus 로고
    • The bone behind a low areal bone mineral density: Peripheral quantitative computed tomographic analysis in a woman with osteogenesis imperfecta
    • Rauch F, Tutlewski B, Schonau E (2002). The bone behind a low areal bone mineral density: peripheral quantitative computed tomographic analysis in a woman with osteogenesis imperfecta. J Musculoskelet Neuronal Interact 2:306-308.
    • (2002) J Musculoskelet Neuronal Interact , vol.2 , pp. 306-308
    • Rauch, F.1    Tutlewski, B.2    Schonau, E.3
  • 19
    • 84864927716 scopus 로고    scopus 로고
    • A mutation in the 50-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type v with hyperplastic callus
    • Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, et al. (2012). A mutation in the 50-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet 91:349-357.
    • (2012) Am J Hum Genet , vol.91 , pp. 349-357
    • Semler, O.1    Garbes, L.2    Keupp, K.3    Swan, D.4    Zimmermann, K.5    Becker, J.6
  • 20
    • 84870467220 scopus 로고    scopus 로고
    • Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
    • Shaheen R, Alazami AM, Alshammari MJ, Faqeih F, Alhashmi N, Mousa N, et al. (2012). Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet 49:630-635.
    • (2012) J Med Genet , vol.49 , pp. 630-635
    • Shaheen, R.1    Alazami, A.M.2    Alshammari, M.J.3    Faqeih, F.4    Alhashmi, N.5    Mousa, N.6
  • 22
  • 24
    • 0036317297 scopus 로고    scopus 로고
    • Osteogenesis imperfecta type VII: An autosomal recessive form of brittle bone disease
    • DOI 10.1016/S8756-3282(02)00790-1, PII S8756328202007901
    • Ward LM, Rauch F, Travers R, Chabot G, Azouz EM, Lalic L, et al. (2002). Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone 31:12-18. (Pubitemid 34754419)
    • (2002) Bone , vol.31 , Issue.1 , pp. 12-18
    • Ward, L.M.1    Rauch, F.2    Travers, R.3    Chabot, G.4    Azouz, E.M.5    Lalic, L.6    Roughley, P.J.7    Glorieux, F.H.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.