메뉴 건너뛰기




Volumn 87, Issue 2, 2015, Pages 133-140

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers

(17)  Patel, R M a   Nagamani, S C S a   Cuthbertson, D b   Campeau, P M a   Krischer, J P b   Shapiro, J R c   Steiner, R D d,e   Smith, P A f   Bober, M B g   Byers, P H h   Pepin, M h   Durigova, M i   Glorieux, F H i   Rauch, F i   Lee, B H a,j   Hart, T k   Sutton, V R a  


Author keywords

Bone mineral density in osteogenesis imperfecta; History study; Longitudinal study; Natural history study; Osteogenesis imperfecta

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; COLLAGEN TYPE 1; ALPHA 2(I) COLLAGEN; COLLAGEN TYPE I, ALPHA 1 CHAIN;

EID: 84921435786     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12409     Document Type: Article
Times cited : (59)

References (47)
  • 1
    • 1942501149 scopus 로고    scopus 로고
    • Osteogenesis imperfecta
    • Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet 2004: 363: 1377-1385.
    • (2004) Lancet , vol.363 , pp. 1377-1385
    • Rauch, F.1    Glorieux, F.H.2
  • 2
    • 0018416379 scopus 로고
    • Genetic heterogeneity in osteogenesis imperfecta
    • Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979: 16: 101-116.
    • (1979) J Med Genet , vol.16 , pp. 101-116
    • Sillence, D.O.1    Senn, A.2    Danks, D.M.3
  • 3
    • 0022638389 scopus 로고
    • Osteogenesis imperfecta is linked to both type I collagen structural genes
    • Sykes B, Ogilvie D, Wordsworth P, Anderson, JN. Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet 1986: 2: 69-72.
    • (1986) Lancet , vol.2 , pp. 69-72
    • Sykes, B.1    Ogilvie, D.2    Wordsworth, P.3    Anderson, J.N.4
  • 4
    • 33750207868 scopus 로고    scopus 로고
    • CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta
    • Morello R, Bertin TK, Chen Y et al. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 2006: 127: 291-304.
    • (2006) Cell , vol.127 , pp. 291-304
    • Morello, R.1    Bertin, T.K.2    Chen, Y.3
  • 5
    • 33845866114 scopus 로고    scopus 로고
    • Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
    • Barnes AM, Chang W, Morello R et al. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 2006: 355: 2757-2764.
    • (2006) N Engl J Med , vol.355 , pp. 2757-2764
    • Barnes, A.M.1    Chang, W.2    Morello, R.3
  • 6
    • 33847321022 scopus 로고    scopus 로고
    • Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
    • Cabral WA, Chang W, Barnes AM et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet 2007: 39: 359-365.
    • (2007) Nat Genet , vol.39 , pp. 359-365
    • Cabral, W.A.1    Chang, W.2    Barnes, A.M.3
  • 7
    • 70350506376 scopus 로고    scopus 로고
    • PPIB mutations cause severe osteogenesis imperfecta
    • van Dijk FS, Nesbitt IM, Zwikstra EH et al. PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet 2009: 85: 521-527.
    • (2009) Am J Hum Genet , vol.85 , pp. 521-527
    • van Dijk, F.S.1    Nesbitt, I.M.2    Zwikstra, E.H.3
  • 8
    • 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 et al. 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: 389-398.
    • (2010) Am J Hum Genet , vol.86 , pp. 389-398
    • Christiansen, H.E.1    Schwarze, U.2    Pyott, S.M.3
  • 9
    • 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 et al. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet 2010: 87: 110-114.
    • (2010) Am J Hum Genet , vol.87 , pp. 110-114
    • Lapunzina, P.1    Aglan, M.2    Temtamy, S.3
  • 10
    • 77950381244 scopus 로고    scopus 로고
    • Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
    • Alanay Y, Avaygan H, Camacho N et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2010: 86: 551-559.
    • (2010) Am J Hum Genet , vol.86 , pp. 551-559
    • Alanay, Y.1    Avaygan, H.2    Camacho, N.3
  • 11
    • 76649130557 scopus 로고    scopus 로고
    • Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding
    • Barnes AM, Carter EM, Cabral WA et al. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med 2010: 362: 521-528.
    • (2010) N Engl J Med , vol.362 , pp. 521-528
    • Barnes, A.M.1    Carter, E.M.2    Cabral, W.A.3
  • 12
    • 79952489518 scopus 로고    scopus 로고
    • Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta
    • Becker J, Semler O, Gilissen C et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2011: 88: 362-371.
    • (2011) Am J Hum Genet , vol.88 , pp. 362-371
    • Becker, J.1    Semler, O.2    Gilissen, C.3
  • 13
    • 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 et al. Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat 2012: 33: 343-350.
    • (2012) Hum Mutat , vol.33 , pp. 343-350
    • Martinez-Glez, V.1    Valencia, M.2    Caparros-Martin, J.A.3
  • 14
    • 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 et al. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet 2012: 49: 630-635.
    • (2012) J Med Genet , vol.49 , pp. 630-635
    • Shaheen, R.1    Alazami, A.M.2    Alshammari, M.J.3
  • 15
    • 84864946186 scopus 로고    scopus 로고
    • A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V
    • Cho TJ, Lee KE, Lee SK et al. A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet 2012: 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
  • 16
    • 84877595835 scopus 로고    scopus 로고
    • WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta
    • Laine CM, Joeng KS, Campeau PM et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med 2013: 368: 1809-1816.
    • (2013) N Engl J Med , vol.368 , pp. 1809-1816
    • Laine, C.M.1    Joeng, K.S.2    Campeau, P.M.3
  • 17
    • 74249109599 scopus 로고    scopus 로고
    • Severe osteogenesis imperfecta in cyclophilin B-deficient mice
    • Choi JW, Sutor SL, Lindquist L et al. Severe osteogenesis imperfecta in cyclophilin B-deficient mice. PLoS Genet 2009: 5: e1000750.
    • (2009) PLoS Genet , vol.5 , pp. e1000750
    • Choi, J.W.1    Sutor, S.L.2    Lindquist, L.3
  • 18
    • 84878856998 scopus 로고    scopus 로고
    • Mutations in WNT1 are a cause of osteogenesis imperfecta
    • Fahiminiya S, Majewski J, Mort J et al. Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet 2013: 50: 345-348.
    • (2013) J Med Genet , vol.50 , pp. 345-348
    • Fahiminiya, S.1    Majewski, J.2    Mort, J.3
  • 19
    • 84875924767 scopus 로고    scopus 로고
    • Mutations in WNT1 cause different forms of bone fragility
    • Keupp K, Beleggia F, Kayserili H et al. Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet 2013: 92: 565-574.
    • (2013) Am J Hum Genet , vol.92 , pp. 565-574
    • Keupp, K.1    Beleggia, F.2    Kayserili, H.3
  • 20
    • 84875931013 scopus 로고    scopus 로고
    • WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta
    • Pyott SM, Tran TT, Leistritz DF et al. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet 2013: 92: 590-597.
    • (2013) Am J Hum Genet , vol.92 , pp. 590-597
    • Pyott, S.M.1    Tran, T.T.2    Leistritz, D.F.3
  • 21
    • 84864927716 scopus 로고    scopus 로고
    • A mutation in the 5′-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 et al. A mutation in the 5′-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet 2012: 91: 349-357.
    • (2012) Am J Hum Genet , vol.91 , pp. 349-357
    • Semler, O.1    Garbes, L.2    Keupp, K.3
  • 22
    • 84921438191 scopus 로고    scopus 로고
    • Philadelphia: Saunders
    • Marini JC. Philadelphia: Saunders, 2004.
    • (2004)
    • Marini, J.C.1
  • 23
    • 53149129878 scopus 로고    scopus 로고
    • Progress in childhood cancer: 50 years of research collaboration, a report from the Children's Oncology Group
    • Children's Oncology Group.
    • O'Leary M, Krailo M, Anderson JR, Reaman GH, Children's Oncology Group. Progress in childhood cancer: 50 years of research collaboration, a report from the Children's Oncology Group. Semin Oncol 2008: 35: 484-493.
    • (2008) Semin Oncol , vol.35 , pp. 484-493
    • O'Leary, M.1    Krailo, M.2    Anderson, J.R.3    Reaman, G.H.4
  • 24
    • 84860173207 scopus 로고    scopus 로고
    • Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability
    • Burns J, Ouvrier R, Estilow T et al. Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Ann Neurol 2012: 71: 642-652.
    • (2012) Ann Neurol , vol.71 , pp. 642-652
    • Burns, J.1    Ouvrier, R.2    Estilow, T.3
  • 25
    • 84881359035 scopus 로고    scopus 로고
    • Pregnancy outcomes among patients with vasculitis
    • Vasculitis Clinical Research Consortium.
    • Clowse ME, Richeson RL, Pieper C, Merkel PA, Vasculitis Clinical Research Consortium. Pregnancy outcomes among patients with vasculitis. Arthritis Care Res 2013: 65: 1370-1374.
    • (2013) Arthritis Care Res , vol.65 , pp. 1370-1374
    • Clowse, M.E.1    Richeson, R.L.2    Pieper, C.3    Merkel, P.A.4
  • 26
    • 84879100574 scopus 로고    scopus 로고
    • Rare disease clinical research network's urea cycle consortium delivers a successful clinical trial to improve alternate pathway therapy
    • Mistry PK. Rare disease clinical research network's urea cycle consortium delivers a successful clinical trial to improve alternate pathway therapy. Hepatology 2013: 57: 2100-2102.
    • (2013) Hepatology , vol.57 , pp. 2100-2102
    • Mistry, P.K.1
  • 27
    • 84861532036 scopus 로고    scopus 로고
    • The Rare Diseases Clinical Research Network Contact Registry update: features and functionality
    • Richesson RL, Sutphen R, Shereff D, Krischer JP. The Rare Diseases Clinical Research Network Contact Registry update: features and functionality. Contemp Clin Trials 2012: 33: 647-656.
    • (2012) Contemp Clin Trials , vol.33 , pp. 647-656
    • Richesson, R.L.1    Sutphen, R.2    Shereff, D.3    Krischer, J.P.4
  • 28
    • 46749144467 scopus 로고    scopus 로고
    • Cross-sectional multicenter study of patients with urea cycle disorders in the United States
    • Tuchman M, Lee B, Lichter-Konecki U et al. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab 2008: 94: 397-402.
    • (2008) Mol Genet Metab , vol.94 , pp. 397-402
    • Tuchman, M.1    Lee, B.2    Lichter-Konecki, U.3
  • 29
    • 0242664695 scopus 로고    scopus 로고
    • BMD at multiple sites and risk of fracture of multiple types: long-term results from the Study of Osteoporotic Fractures
    • Stone KL, Seeley DG, Lui LY et al. BMD at multiple sites and risk of fracture of multiple types: long-term results from the Study of Osteoporotic Fractures. J Bone Miner Res 2003: 18: 1947-1954.
    • (2003) J Bone Miner Res , vol.18 , pp. 1947-1954
    • Stone, K.L.1    Seeley, D.G.2    Lui, L.Y.3
  • 30
    • 20844462737 scopus 로고    scopus 로고
    • Predictive value of BMD for hip and other fractures
    • Johnell O, Kanis JA, Oden A et al. Predictive value of BMD for hip and other fractures. J Bone Miner Res 2005: 20: 1185-1194.
    • (2005) J Bone Miner Res , vol.20 , pp. 1185-1194
    • Johnell, O.1    Kanis, J.A.2    Oden, A.3
  • 31
    • 33846034559 scopus 로고    scopus 로고
    • Effectiveness of bone density measurement for predicting osteoporotic fractures in clinical practice
    • Manitoba Bone Density Program.
    • Leslie WD, Tsang JF, Caetano PA, Lix LM, Manitoba Bone Density Program. Effectiveness of bone density measurement for predicting osteoporotic fractures in clinical practice. J Clin Endocrinol Metab 2007: 92: 77-81.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 77-81
    • Leslie, W.D.1    Tsang, J.F.2    Caetano, P.A.3    Lix, L.M.4
  • 33
    • 37349011273 scopus 로고    scopus 로고
    • Long-term risk of incident vertebral fractures
    • Cauley JA, Hochberg MC, Lui LY et al. Long-term risk of incident vertebral fractures. JAMA 2007: 298: 2761-2767.
    • (2007) JAMA , vol.298 , pp. 2761-2767
    • Cauley, J.A.1    Hochberg, M.C.2    Lui, L.Y.3
  • 34
    • 0037215352 scopus 로고    scopus 로고
    • Intravenous neridronate in adults with osteogenesis imperfecta
    • Adami S, Gatti D, Colapietro F et al. Intravenous neridronate in adults with osteogenesis imperfecta. J Bone Miner Res 2003: 18: 126-130.
    • (2003) J Bone Miner Res , vol.18 , pp. 126-130
    • Adami, S.1    Gatti, D.2    Colapietro, F.3
  • 35
    • 33144463953 scopus 로고    scopus 로고
    • Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial
    • Chevrel G, Schott AM, Fontanges E et al. Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial. J Bone Miner Res 2006: 21: 300-306.
    • (2006) J Bone Miner Res , vol.21 , pp. 300-306
    • Chevrel, G.1    Schott, A.M.2    Fontanges, E.3
  • 36
    • 17644376504 scopus 로고    scopus 로고
    • Intravenous neridronate in children with osteogenesis imperfecta: a randomized controlled study
    • Gatti D, Antoniazzi F, Prizzi R et al. Intravenous neridronate in children with osteogenesis imperfecta: a randomized controlled study. J Bone Miner Res 2005: 20: 758-763.
    • (2005) J Bone Miner Res , vol.20 , pp. 758-763
    • Gatti, D.1    Antoniazzi, F.2    Prizzi, R.3
  • 38
    • 84921439526 scopus 로고
    • Health Promotion and Disease Prevention Amendments of 1984. October 30
    • Public Law 98-551. Health Promotion and Disease Prevention Amendments of 1984. October 30, 1984.
    • (1984)
  • 39
    • 84879118512 scopus 로고    scopus 로고
    • Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate
    • Diaz GA, Krivitzky LS, Mokhtarani M et al. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology 2013: 57: 2171-2179.
    • (2013) Hepatology , vol.57 , pp. 2171-2179
    • Diaz, G.A.1    Krivitzky, L.S.2    Mokhtarani, M.3
  • 40
    • 84867897173 scopus 로고    scopus 로고
    • A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria
    • Nagamani SC, Shchelochkov OA, Mullins MA et al. A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria. Mol Genet Metab 2012: 107: 315-321.
    • (2012) Mol Genet Metab , vol.107 , pp. 315-321
    • Nagamani, S.C.1    Shchelochkov, O.A.2    Mullins, M.A.3
  • 41
    • 77649320467 scopus 로고    scopus 로고
    • Dentinogenesis imperfecta in children with osteogenesis imperfecta: a clinical and ultrastructural study. International journal of paediatric dentistry/the British Paedodontic Society [and] the International Association of Dentistry for
    • Majorana A, Bardellini E, Brunelli PC, Lacaita M, Cazzolla AP, Favia G. Dentinogenesis imperfecta in children with osteogenesis imperfecta: a clinical and ultrastructural study. International journal of paediatric dentistry/the British Paedodontic Society [and] the International Association of Dentistry for. Children 2010: 20: 112-118.
    • (2010) Children , vol.20 , pp. 112-118
    • Majorana, A.1    Bardellini, E.2    Brunelli, P.C.3    Lacaita, M.4    Cazzolla, A.P.5    Favia, G.6
  • 42
    • 0036518567 scopus 로고    scopus 로고
    • Dental aberrations in children and adolescents with osteogenesis imperfecta
    • Malmgren B, Norgren S. Dental aberrations in children and adolescents with osteogenesis imperfecta. Acta Odontol Scand 2002: 60: 65-71.
    • (2002) Acta Odontol Scand , vol.60 , pp. 65-71
    • Malmgren, B.1    Norgren, S.2
  • 44
    • 84879246494 scopus 로고    scopus 로고
    • Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation
    • Shapiro JR, Lietman C, Grover M et al. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res 2013: 28: 1523-1530.
    • (2013) J Bone Miner Res , vol.28 , pp. 1523-1530
    • Shapiro, J.R.1    Lietman, C.2    Grover, M.3
  • 45
    • 0036794071 scopus 로고    scopus 로고
    • Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey
    • Kuurila K, Kaitila I, Johansson R, Grenman R. Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey. Ann Otol Rhinol Laryngol 2002: 111: 939-946.
    • (2002) Ann Otol Rhinol Laryngol , vol.111 , pp. 939-946
    • Kuurila, K.1    Kaitila, I.2    Johansson, R.3    Grenman, R.4
  • 46
    • 0020048271 scopus 로고
    • Hearing and middle ear function in osteogenesis imperfecta
    • Shapiro JR, Pikus A, Weiss G, Rowe DW. Hearing and middle ear function in osteogenesis imperfecta. JAMA 1982: 247: 2120-2126.
    • (1982) JAMA , vol.247 , pp. 2120-2126
    • Shapiro, J.R.1    Pikus, A.2    Weiss, G.3    Rowe, D.W.4
  • 47
    • 77953529873 scopus 로고    scopus 로고
    • Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta
    • Rauch F, Lalic L, Roughley P, Glorieux FH. Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res 2010: 25: 1367-1374.
    • (2010) J Bone Miner Res , vol.25 , pp. 1367-1374
    • Rauch, F.1    Lalic, L.2    Roughley, P.3    Glorieux, F.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.