메뉴 건너뛰기




Volumn 17, Issue 4, 2006, Pages 271-275

An association study of inflammatory cytokine gene polymorphisms in Fabry disease

Author keywords

Enzyme replacement therapy; Fabry disease; Inflammatory cytokine; Mainz Severity Score Index; Polymorphism

Indexed keywords

ALPHA GALACTOSIDASE; CYTOKINE; INTERLEUKIN 10; INTERLEUKIN 1ALPHA; INTERLEUKIN 1BETA; TUMOR NECROSIS FACTOR ALPHA;

EID: 34249984519     PISSN: 11485493     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (17)

References (25)
  • 1
    • 0037452544 scopus 로고    scopus 로고
    • Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
    • Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003; 138: 338.
    • (2003) Ann Intern Med , vol.138 , pp. 338
    • Desnick, R.J.1    Brady, R.2    Barranger, J.3
  • 2
    • 0028269904 scopus 로고
    • Molecular basis of Fabry disease: Mutations and polymorphisms in the human alpha-galactosidase A gene
    • Eng CM, Desnick RJ. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat 1994; 3: 103.
    • (1994) Hum Mutat , vol.3 , pp. 103
    • Eng, C.M.1    Desnick, R.J.2
  • 3
    • 33745280137 scopus 로고    scopus 로고
    • High incidence of later-onset Fabry disease revealed by newborn screening
    • Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Gen 2006; 79: 31.
    • (2006) Am J Hum Gen , vol.79 , pp. 31
    • Spada, M.1    Pagliardini, S.2    Yasuda, M.3
  • 4
    • 23944489917 scopus 로고    scopus 로고
    • Fabry disease: Correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes
    • Matsuzawa F, Aikawa S, Doi H, Okumiya T, Sakuraba H. Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes. Hum Genet 2005; 117: 317.
    • (2005) Hum Genet , vol.117 , pp. 317
    • Matsuzawa, F.1    Aikawa, S.2    Doi, H.3    Okumiya, T.4    Sakuraba, H.5
  • 5
    • 0035097499 scopus 로고    scopus 로고
    • A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies
    • Eng CM, Banikazemi M, Gordon RE, et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001; 68: 711.
    • (2001) Am J Hum Genet , vol.68 , pp. 711
    • Eng, C.M.1    Banikazemi, M.2    Gordon, R.E.3
  • 6
    • 0035816007 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease: A randomized controlled trial
    • Schiffmann R, Kopp JB, Austin 3rd HA, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285: 2743.
    • (2001) JAMA , vol.285 , pp. 2743
    • Schiffmann, R.1    Kopp, J.B.2    Austin 3rd, H.A.3
  • 7
    • 11144358101 scopus 로고    scopus 로고
    • The Mainz Severity Score Index: A new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy
    • Whybra C, Kampmann C, Krummenauer F, et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 2004; 65: 299.
    • (2004) Clin Genet , vol.65 , pp. 299
    • Whybra, C.1    Kampmann, C.2    Krummenauer, F.3
  • 8
    • 16844370666 scopus 로고    scopus 로고
    • Genotype and phenotype in Fabry disease: Analysis of the Fabry Outcome Survey
    • discussion 79
    • Schaefer E, Mehta A, Gal A. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr Suppl 2005; 94: 87-92; (discussion 79).
    • (2005) Acta Paediatr Suppl , vol.94 , pp. 87-92
    • Schaefer, E.1    Mehta, A.2    Gal, A.3
  • 9
    • 0037093476 scopus 로고    scopus 로고
    • Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling
    • Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol Genet 2002; 11: 1343.
    • (2002) Hum Mol Genet , vol.11 , pp. 1343
    • Myerowitz, R.1    Lawson, D.2    Mizukami, H.3    Mi, Y.4    Tifft, C.J.5    Proia, R.L.6
  • 10
    • 17744378748 scopus 로고    scopus 로고
    • Joint and bone disease in mucopolysaccharidoses VI and VII: Identification of new therapeutic targets and biomarkers using animal models
    • Simonaro CM, D'Angelo M, Haskins ME, Schuchman EH. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr Res 2005; 57(5 Pt 1): 701.
    • (2005) Pediatr Res , vol.57 , Issue.5 PART 1 , pp. 701
    • Simonaro, C.M.1    D'Angelo, M.2    Haskins, M.E.3    Schuchman, E.H.4
  • 11
    • 10944272502 scopus 로고    scopus 로고
    • Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model
    • Rogowski O, Shapira I, Zimran A, Zeltser D, Elstein D, Attias D, et al. Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model. Blood Cells Mol Dis 2005; 34: 26.
    • (2005) Blood Cells Mol Dis , vol.34 , pp. 26
    • Rogowski, O.1    Shapira, I.2    Zimran, A.3    Zeltser, D.4    Elstein, D.5    Attias, D.6
  • 12
    • 33646438843 scopus 로고    scopus 로고
    • Prostaglandin D2-mediated microglia/astrocyte interaction enhances astrogliosis and demyelination in twitcher
    • Mohri I, Taniike M, Taniguchi H, Kanekiyo T, Aritake K, Inui T, et al. Prostaglandin D2-mediated microglia/astrocyte interaction enhances astrogliosis and demyelination in twitcher. J Neurosci 2006; 26: 4383.
    • (2006) J Neurosci , vol.26 , pp. 4383
    • Mohri, I.1    Taniike, M.2    Taniguchi, H.3    Kanekiyo, T.4    Aritake, K.5    Inui, T.6
  • 13
    • 23844449568 scopus 로고    scopus 로고
    • AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease
    • Barbon CM, Ziegler RJ, Li C, Armentano D, Cherry M, Desnick RJ, et al. AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease. Mol Ther 2005; 12: 431.
    • (2005) Mol Ther , vol.12 , pp. 431
    • Barbon, C.M.1    Ziegler, R.J.2    Li, C.3    Armentano, D.4    Cherry, M.5    Desnick, R.J.6
  • 14
    • 2942563944 scopus 로고    scopus 로고
    • Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice
    • Wu YP, Proia RL. Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice. Proc Natl Acad Sci USA 2004; 101: 8425.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 8425
    • Wu, Y.P.1    Proia, R.L.2
  • 15
    • 0842320913 scopus 로고    scopus 로고
    • Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: Immunohistochemical observations of microglia and astroglia
    • Baudry M, Yao Y, Simmons D, Liu J, Bi X. Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: immunohistochemical observations of microglia and astroglia. Exp Neurol 2003; 184: 887.
    • (2003) Exp Neurol , vol.184 , pp. 887
    • Baudry, M.1    Yao, Y.2    Simmons, D.3    Liu, J.4    Bi, X.5
  • 16
    • 22644443414 scopus 로고    scopus 로고
    • Transient siRNA-mediated attenuation of liver expression from an alpha-galactosidase A plasmid reduces subsequent humoral immune responses to the transgene product in mice
    • Chu Q, Joseph M, Przybylska M, Yew NS, Scheule RK. Transient siRNA-mediated attenuation of liver expression from an alpha-galactosidase A plasmid reduces subsequent humoral immune responses to the transgene product in mice. Mol Ther 2005; 12: 264.
    • (2005) Mol Ther , vol.12 , pp. 264
    • Chu, Q.1    Joseph, M.2    Przybylska, M.3    Yew, N.S.4    Scheule, R.K.5
  • 17
    • 33744719480 scopus 로고    scopus 로고
    • Inhibition of IL-1, IL-6, and TNF-alpha in immune-mediated inflammatory diseases
    • Moller B, Villiger PM. Inhibition of IL-1, IL-6, and TNF-alpha in immune-mediated inflammatory diseases. Springer Semin Immunopathol 2006; 27: 391.
    • (2006) Springer Semin Immunopathol , vol.27 , pp. 391
    • Moller, B.1    Villiger, P.M.2
  • 19
    • 0242552818 scopus 로고    scopus 로고
    • TNF-alpha and TNF-beta gene polymorphisms in cerebral infarction
    • Um JY, An NH, Kim HM. TNF-alpha and TNF-beta gene polymorphisms in cerebral infarction. J Mol Neurosci 2003; 21: 167.
    • (2003) J Mol Neurosci , vol.21 , pp. 167
    • Um, J.Y.1    An, N.H.2    Kim, H.M.3
  • 20
    • 18744370513 scopus 로고    scopus 로고
    • Interleukin 1 alpha gene polymorphism as a susceptibility factor in Alzheimer's disease and its influence on the extent of histopathological hallmark lesions of Alzheimer's disease
    • Pirskanen M, Hiltunen M, Mannermaa A, Iivonen S, Helisalmi S, Lehtovirta M, et al. Interleukin 1 alpha gene polymorphism as a susceptibility factor in Alzheimer's disease and its influence on the extent of histopathological hallmark lesions of Alzheimer's disease. Dement Geriatr Cogn Disord 2002; 14: 123.
    • (2002) Dement Geriatr Cogn Disord , vol.14 , pp. 123
    • Pirskanen, M.1    Hiltunen, M.2    Mannermaa, A.3    Iivonen, S.4    Helisalmi, S.5    Lehtovirta, M.6
  • 21
    • 33646269731 scopus 로고    scopus 로고
    • Association of interleukin-10 A-592C and T-819C polymorphisms with type 2 diabetes mellitus
    • Chang YH, Huang CN, Wu CY, Shiau MY. Association of interleukin-10 A-592C and T-819C polymorphisms with type 2 diabetes mellitus. Hum Immunol 2005; 66: 1258.
    • (2005) Hum Immunol , vol.66 , pp. 1258
    • Chang, Y.H.1    Huang, C.N.2    Wu, C.Y.3    Shiau, M.Y.4
  • 22
    • 27444447430 scopus 로고    scopus 로고
    • Differential effect of IL10 and TNF{alpha} genotypes on determining susceptibility to discoid and systemic lupus erythematosus
    • Suarez A, Lopez P, Mozo L, Gutierrez C. Differential effect of IL10 and TNF{alpha} genotypes on determining susceptibility to discoid and systemic lupus erythematosus. Ann Rheum Dis 2005; 64: 1605.
    • (2005) Ann Rheum Dis , vol.64 , pp. 1605
    • Suarez, A.1    Lopez, P.2    Mozo, L.3    Gutierrez, C.4
  • 23
    • 0038446841 scopus 로고    scopus 로고
    • Increased resistance of LFA-1-deficient mice to lipopolysaccharide-induced shock/liver injury in the presence of TNF-alpha and IL-12 is mediated by IL-10: A novel role for LFA-1 in the regulation of the proinflammatory and anti-inflammatory cytokine balance
    • Emoto M, Emoto Y, Brinkmann V, Miyamoto M, Yoshizawa I, Staber M, et al. Increased resistance of LFA-1-deficient mice to lipopolysaccharide-induced shock/liver injury in the presence of TNF-alpha and IL-12 is mediated by IL-10: a novel role for LFA-1 in the regulation of the proinflammatory and anti-inflammatory cytokine balance. J Immunol 2003; 171: 584.
    • (2003) J Immunol , vol.171 , pp. 584
    • Emoto, M.1    Emoto, Y.2    Brinkmann, V.3    Miyamoto, M.4    Yoshizawa, I.5    Staber, M.6
  • 25
    • 0034853490 scopus 로고    scopus 로고
    • Cytokine gene polymorphisms relevant for the spondyloarthropathies
    • Rudwaleit M, Hohler T. Cytokine gene polymorphisms relevant for the spondyloarthropathies. Curr Opin Rheumatol 2001; 13: 250.
    • (2001) Curr Opin Rheumatol , vol.13 , pp. 250
    • Rudwaleit, M.1    Hohler, T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.