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Volumn 77, Issue 4, 2015, Pages 684-696

Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLUCOCORTICOID; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN 4; OSTEOPONTIN; UNCLASSIFIED DRUG; LTBP4 PROTEIN, HUMAN; SPP1 PROTEIN, HUMAN;

EID: 84925643643     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24370     Document Type: Article
Times cited : (98)

References (33)
  • 1
    • 0023614188 scopus 로고
    • Dystrophin: The protein product of the Duchenne muscular dystrophy locus
    • Hoffman EP, Brown RH Jr, Kunkel LM,. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-928.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1    Brown, Jr.R.H.2    Kunkel, L.M.3
  • 2
    • 72149108443 scopus 로고    scopus 로고
    • Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management
    • Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010; 9: 77-93.
    • (2010) Lancet Neurol , vol.9 , pp. 77-93
    • Bushby, K.1    Finkel, R.2    Birnkrant, D.J.3
  • 3
    • 76549130473 scopus 로고    scopus 로고
    • Diagnosis and management of Duchenne muscular dystrophy, part 2: Implementation of multidisciplinary care
    • Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 2010; 9: 177-189.
    • (2010) Lancet Neurol , vol.9 , pp. 177-189
    • Bushby, K.1    Finkel, R.2    Birnkrant, D.J.3
  • 4
    • 78751634526 scopus 로고    scopus 로고
    • SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy
    • Pegoraro E, Hoffman EP, Piva L, et al. SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology 2011; 76: 219-226.
    • (2011) Neurology , vol.76 , pp. 219-226
    • Pegoraro, E.1    Hoffman, E.P.2    Piva, L.3
  • 5
    • 84882734669 scopus 로고    scopus 로고
    • Modifying muscular dystrophy through transforming growth factor-beta
    • Ceco E, McNally EM,. Modifying muscular dystrophy through transforming growth factor-beta. FEBS J 2013; 280: 4198-4209.
    • (2013) FEBS J , vol.280 , pp. 4198-4209
    • Ceco, E.1    McNally, E.M.2
  • 6
    • 15244354176 scopus 로고    scopus 로고
    • Polymorphisms in the osteopontin promoter affect its transcriptional activity
    • Giacopelli F, Marciano R, Pistorio A, et al. Polymorphisms in the osteopontin promoter affect its transcriptional activity. Physiol Genomics 2004; 20: 87-96.
    • (2004) Physiol Genomics , vol.20 , pp. 87-96
    • Giacopelli, F.1    Marciano, R.2    Pistorio, A.3
  • 7
    • 84903993221 scopus 로고    scopus 로고
    • Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage
    • Barfield WL, Uaesoontrachoon K, Wu CS, et al. Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage. Hum Mol Genet 2014; 23: 4043-4050.
    • (2014) Hum Mol Genet , vol.23 , pp. 4043-4050
    • Barfield, W.L.1    Uaesoontrachoon, K.2    Wu, C.S.3
  • 8
    • 72849135317 scopus 로고    scopus 로고
    • Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice
    • Heydemann A, Ceco E, Lim JE, et al. Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice. J Clin Invest 2009; 119: 3703-3712.
    • (2009) J Clin Invest , vol.119 , pp. 3703-3712
    • Heydemann, A.1    Ceco, E.2    Lim, J.E.3
  • 9
    • 84878390222 scopus 로고    scopus 로고
    • LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy
    • Flanigan KM, Ceco E, Lamar KM, et al. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol 2013; 73: 481-488.
    • (2013) Ann Neurol , vol.73 , pp. 481-488
    • Flanigan, K.M.1    Ceco, E.2    Lamar, K.M.3
  • 10
    • 78751637319 scopus 로고    scopus 로고
    • Predicting the severity of Duchenne muscular dystrophy: Implications for treatment
    • Nelson SF, Griggs RC,. Predicting the severity of Duchenne muscular dystrophy: implications for treatment. Neurology 2011; 76: 208-209.
    • (2011) Neurology , vol.76 , pp. 208-209
    • Nelson, S.F.1    Griggs, R.C.2
  • 11
    • 33750072025 scopus 로고    scopus 로고
    • Using ancestry-informative markers to define populations and detect population stratification
    • Enoch MA, Shen PH, Xu K, et al. Using ancestry-informative markers to define populations and detect population stratification. J Psychopharmacol 2006; 20 (4 suppl): 19-26.
    • (2006) J Psychopharmacol , vol.20 , Issue.4 , pp. 19-26
    • Enoch, M.A.1    Shen, P.H.2    Xu, K.3
  • 12
    • 57549090341 scopus 로고    scopus 로고
    • Accounting for ancestry: Population substructure and genome-wide association studies
    • Tian C, Gregersen PK, Seldin MF,. Accounting for ancestry: population substructure and genome-wide association studies. Hum Mol Genet 2008; 17: R143-R150.
    • (2008) Hum Mol Genet , vol.17 , pp. R143-R150
    • Tian, C.1    Gregersen, P.K.2    Seldin, M.F.3
  • 13
    • 55749096378 scopus 로고    scopus 로고
    • Identifying modifier genes of monogenic disease: Strategies and difficulties
    • Genin E, Feingold J, Clerget-Darpoux F,. Identifying modifier genes of monogenic disease: strategies and difficulties. Hum Genet 2008; 124: 357-368.
    • (2008) Hum Genet , vol.124 , pp. 357-368
    • Genin, E.1    Feingold, J.2    Clerget-Darpoux, F.3
  • 14
    • 81155161042 scopus 로고    scopus 로고
    • Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy
    • Holtzer C, Meaney FJ, Andrews J, et al. Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy. Genet Med 2011; 13: 942-947.
    • (2011) Genet Med , vol.13 , pp. 942-947
    • Holtzer, C.1    Meaney, F.J.2    Andrews, J.3
  • 15
    • 84925642900 scopus 로고    scopus 로고
    • Trends with corticosteroid use in males with Duchenne muscular dystrophy born 1982-2001
    • Fox DJ, Kumar A, West NA, et al. Trends with corticosteroid use in males with Duchenne muscular dystrophy born 1982-2001. J Child Neurol 2015; 30: 21-26.
    • (2015) J Child Neurol , vol.30 , pp. 21-26
    • Fox, D.J.1    Kumar, A.2    West, N.A.3
  • 16
    • 0023638685 scopus 로고
    • Duchenne muscular dystrophy: Comparison among different racial groups
    • Bortolini ER, Zatz M,. Duchenne muscular dystrophy: comparison among different racial groups. Am J Med Genet 1987; 28: 925-929.
    • (1987) Am J Med Genet , vol.28 , pp. 925-929
    • Bortolini, E.R.1    Zatz, M.2
  • 17
    • 33750591334 scopus 로고    scopus 로고
    • Trends and racial disparities in muscular dystrophy deaths in the United States, 1983-1998: An analysis of multiple cause mortality data
    • Kenneson A, Kolor K, Yang Q, et al. Trends and racial disparities in muscular dystrophy deaths in the United States, 1983-1998: an analysis of multiple cause mortality data. Am J Med Genet A 2006; 140: 2289-2297.
    • (2006) Am J Med Genet A , vol.140 , pp. 2289-2297
    • Kenneson, A.1    Kolor, K.2    Yang, Q.3
  • 18
    • 84879554058 scopus 로고    scopus 로고
    • The Cooperative International Neuromuscular Research Group Duchenne Natural History Study - A longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods used
    • McDonald CM, Henricson EK, Abresch RT, et al. The Cooperative International Neuromuscular Research Group Duchenne Natural History Study-a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used. Muscle Nerve 2013; 48: 32-54.
    • (2013) Muscle Nerve , vol.48 , pp. 32-54
    • McDonald, C.M.1    Henricson, E.K.2    Abresch, R.T.3
  • 19
    • 84879551615 scopus 로고    scopus 로고
    • The Cooperative International Neuromuscular Research Group Duchenne Natural History Study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures
    • Henricson EK, Abresch RT, Cnaan A, et al. The Cooperative International Neuromuscular Research Group Duchenne Natural History Study: glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures. Muscle Nerve 2013; 48: 55-67.
    • (2013) Muscle Nerve , vol.48 , pp. 55-67
    • Henricson, E.K.1    Abresch, R.T.2    Cnaan, A.3
  • 20
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3
  • 21
    • 55349099184 scopus 로고    scopus 로고
    • The positives, protocols, and perils of genome-wide association
    • Neale BM, Purcell S,. The positives, protocols, and perils of genome-wide association. Am J Med Genet B 2008; 147B: 1288-1294.
    • (2008) Am J Med Genet B , vol.147 B , pp. 1288-1294
    • Neale, B.M.1    Purcell, S.2
  • 22
    • 0023388660 scopus 로고
    • Prednisone treatment in Duchenne muscular dystrophy. Long-term benefit
    • DeSilva S, Drachman DB, Mellits D, Kuncl RW,. Prednisone treatment in Duchenne muscular dystrophy. Long-term benefit. Arch Neurol 1987; 44: 818-822.
    • (1987) Arch Neurol , vol.44 , pp. 818-822
    • Desilva, S.1    Drachman, D.B.2    Mellits, D.3    Kuncl, R.W.4
  • 23
    • 0028280495 scopus 로고
    • Deflazacort in Duchenne dystrophy: Study of long-term effect
    • Angelini C, Pegoraro E, Turella E, et al. Deflazacort in Duchenne dystrophy: study of long-term effect. Muscle Nerve 1994; 17: 386-391.
    • (1994) Muscle Nerve , vol.17 , pp. 386-391
    • Angelini, C.1    Pegoraro, E.2    Turella, E.3
  • 24
    • 84861702194 scopus 로고    scopus 로고
    • The Canadian experience with long-term deflazacort treatment in Duchenne muscular dystrophy
    • McAdam LC, Mayo AL, Alman BA, Biggar WD,. The Canadian experience with long-term deflazacort treatment in Duchenne muscular dystrophy. Acta Myol 2012; 31: 16-20.
    • (2012) Acta Myol , vol.31 , pp. 16-20
    • McAdam, L.C.1    Mayo, A.L.2    Alman, B.A.3    Biggar, W.D.4
  • 25
    • 84877594408 scopus 로고    scopus 로고
    • Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy
    • Ricotti V, Ridout DA, Scott E, et al. Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry 2013; 84: 698-705.
    • (2013) J Neurol Neurosurg Psychiatry , vol.84 , pp. 698-705
    • Ricotti, V.1    Ridout, D.A.2    Scott, E.3
  • 26
    • 84866252725 scopus 로고    scopus 로고
    • Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy
    • Bello L, Piva L, Barp A, et al. Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology 2012; 79: 159-162.
    • (2012) Neurology , vol.79 , pp. 159-162
    • Bello, L.1    Piva, L.2    Barp, A.3
  • 27
    • 84866240116 scopus 로고    scopus 로고
    • TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle
    • Piva L, Gavassini BF, Bello L, et al. TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle. J Pathol 2012; 228: 251-259.
    • (2012) J Pathol , vol.228 , pp. 251-259
    • Piva, L.1    Gavassini, B.F.2    Bello, L.3
  • 28
    • 84878937718 scopus 로고    scopus 로고
    • Alterations in osteopontin modify muscle size in females in both humans and mice
    • Hoffman EP, Gordish-Dressman H, McLane VD, et al. Alterations in osteopontin modify muscle size in females in both humans and mice. Med Sci Sports Exerc 2013; 45: 1060-1068.
    • (2013) Med Sci Sports Exerc , vol.45 , pp. 1060-1068
    • Hoffman, E.P.1    Gordish-Dressman, H.2    McLane, V.D.3
  • 29
    • 26844433194 scopus 로고    scopus 로고
    • Antiinflammatory action of glucocorticoids - New mechanisms for old drugs
    • Rhen T, Cidlowski JA,. Antiinflammatory action of glucocorticoids-new mechanisms for old drugs. N Engl J Med 2005; 353: 1711-1723.
    • (2005) N Engl J Med , vol.353 , pp. 1711-1723
    • Rhen, T.1    Cidlowski, J.A.2
  • 30
    • 18144404637 scopus 로고    scopus 로고
    • Prednisolone-induced changes in dystrophic skeletal muscle
    • Fisher I, Abraham D, Bouri K, et al. Prednisolone-induced changes in dystrophic skeletal muscle. FASEB J 2005; 19: 834-836.
    • (2005) FASEB J , vol.19 , pp. 834-836
    • Fisher, I.1    Abraham, D.2    Bouri, K.3
  • 31
    • 84884938319 scopus 로고    scopus 로고
    • VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects
    • Heier CR, Damsker JM, Yu Q, et al. VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects. EMBO Mol Med 2013; 5: 1569-1585.
    • (2013) EMBO Mol Med , vol.5 , pp. 1569-1585
    • Heier, C.R.1    Damsker, J.M.2    Yu, Q.3
  • 32
    • 84942104192 scopus 로고    scopus 로고
    • Validation of genetic modifiers for Duchenne muscular dystrophy: A multicentre study assessing SPP1 and LTBP4 variants
    • DOI: 10.1136/jnnp-2014-308409. [Epub ahead of print]
    • van den Bergen JC, Hiller M, Bohringer S, et al. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants. J Neurol Neurosurg Psychiatry 2014;DOI: 10.1136/jnnp-2014-308409. [Epub ahead of print]
    • (2014) J Neurol Neurosurg Psychiatry
    • Van Den Bergen, J.C.1    Hiller, M.2    Bohringer, S.3
  • 33
    • 84922280399 scopus 로고    scopus 로고
    • Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin
    • Zatz M, Pavanello RC, Lazar M, et al. Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin. Neuromuscul Disord 2014; 24: 986-989.
    • (2014) Neuromuscul Disord , vol.24 , pp. 986-989
    • Zatz, M.1    Pavanello, R.C.2    Lazar, M.3


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