메뉴 건너뛰기




Volumn 9, Issue , 2015, Pages

Complement regulator CD46: Genetic variants and disease associations

Author keywords

Atypical hemolytic uremic syndrome; CD46; Complement; Complement regulation; Membrane cofactor protein

Indexed keywords

COMPLEMENT; MEMBRANE COFACTOR PROTEIN;

EID: 85075591967     PISSN: 14739542     EISSN: 14797364     Source Type: Journal    
DOI: 10.1186/s40246-015-0029-z     Document Type: Review
Times cited : (82)

References (84)
  • 1
    • 13444269022 scopus 로고    scopus 로고
    • The ancient origin of the complement system
    • Zhu Y, Thangamani S, Ho B, Ding JL. The ancient origin of the complement system. EMBO J. 2005;24(2):382–94.
    • (2005) EMBO J , vol.24 , Issue.2 , pp. 382-394
    • Zhu, Y.1    Thangamani, S.2    Ho, B.3    Ding, J.L.4
  • 2
    • 71849099103 scopus 로고    scopus 로고
    • Factor C acts as a lipopolysaccharide-responsive C3 convertase in horseshoe crab complement activation
    • doi:181/11/7994
    • Ariki S, Takahara S, Shibata T, Fukuoka T, Ozaki A, Endo Y, et al. Factor C acts as a lipopolysaccharide-responsive C3 convertase in horseshoe crab complement activation. J Immunol. 2008;181 (11):7994–8001. doi:181/11/7994.
    • (2008) J Immunol , vol.181 , Issue.11 , pp. 7994-8001
    • Ariki, S.1    Takahara, S.2    Shibata, T.3    Fukuoka, T.4    Ozaki, A.5    Endo, Y.6
  • 4
    • 84907597606 scopus 로고    scopus 로고
    • Are complement deficiencies really rare? Overview on prevalence, clinical importance and modern diagnostic approach
    • Grumach AS, Kirschfink M. Are complement deficiencies really rare? Overview on prevalence, clinical importance and modern diagnostic approach. Mol Immunol. 2014;61(2):110–7. doi:10.1016/j.molimm.2014.06.030.
    • (2014) Mol Immunol , vol.61 , Issue.2 , pp. 110-117
    • Grumach, A.S.1    Kirschfink, M.2
  • 5
    • 70049093722 scopus 로고    scopus 로고
    • Clinical significance of complement deficiencies
    • Shoenfeld Y, Gershwin ME, editors. Boston: Blackwell Publishing
    • Pettigrew HD, Teuber SS, Gershwin ME. Clinical significance of complement deficiencies. In: Shoenfeld Y, Gershwin ME, editors. Annals of the New York Academy of Sciences. Boston: Blackwell Publishing; 2009. p. 108–23.
    • (2009) Annals of the New York Academy of Sciences , pp. 108-123
    • Pettigrew, H.D.1    Teuber, S.S.2    Gershwin, M.E.3
  • 6
    • 0025847781 scopus 로고
    • Membrane cofactor protein (MCP or CD46): Newest member of the regulators of complement activation gene cluster
    • Liszewski MK, Post TW, Atkinson JP. Membrane cofactor protein (MCP or CD46): newest member of the regulators of complement activation gene cluster. Annu Rev Immunol. 1991;9:431–55.
    • (1991) Annu Rev Immunol , vol.9 , pp. 431-455
    • Liszewski, M.K.1    Post, T.W.2    Atkinson, J.P.3
  • 7
    • 70349437186 scopus 로고    scopus 로고
    • Complement regulators and inhibitory proteins
    • Zipfel PF, Skerka C. Complement regulators and inhibitory proteins. Nat Rev Immunol. 2009;9(10):729–40. doi:10.1038/nri2620.
    • (2009) Nat Rev Immunol , vol.9 , Issue.10 , pp. 729-740
    • Zipfel, P.F.1    Skerka, C.2
  • 8
    • 84896970663 scopus 로고    scopus 로고
    • Complement and its receptors: New insights into human disease
    • Holers VM. Complement and its receptors: new insights into human disease. Annu Rev Immunol. 2014;32:433–59. doi:10.1146/annurev-immunol-032713-120154.
    • (2014) Annu Rev Immunol , vol.32 , pp. 433-459
    • Holers, V.M.1
  • 9
    • 84867000608 scopus 로고    scopus 로고
    • Complement genetics, deficiencies, and disease associations
    • Mayilyan KR. Complement genetics, deficiencies, and disease associations. Protein & cell. 2012;3(7):487–96. doi:10.1007/s13238-012-2924-6.
    • (2012) Protein & Cell , vol.3 , Issue.7 , pp. 487-496
    • Mayilyan, K.R.1
  • 10
    • 33748431853 scopus 로고    scopus 로고
    • Genomic view of the evolution of the complement system
    • Nonaka M, Kimura A. Genomic view of the evolution of the complement system. Immunogenetics. 2006;58(9):701–13.
    • (2006) Immunogenetics , vol.58 , Issue.9 , pp. 701-713
    • Nonaka, M.1    Kimura, A.2
  • 11
    • 37549023083 scopus 로고    scopus 로고
    • Complement driven by conformational changes
    • Gros P, Milder FJ, Janssen BJ. Complement driven by conformational changes. Nat Rev Immunol. 2008;8(1):48–58.
    • (2008) Nat Rev Immunol , vol.8 , Issue.1 , pp. 48-58
    • Gros, P.1    Milder, F.J.2    Janssen, B.J.3
  • 12
    • 0035810399 scopus 로고    scopus 로고
    • Complement. First of two parts
    • Walport MJ. Complement. First of two parts N Engl J Med. 2001;344(14):1058–66. doi:10.1056/NEJM200104053441406.
    • (2001) N Engl J Med , vol.344 , Issue.14 , pp. 1058-1066
    • Walport, M.J.1
  • 13
    • 84919626581 scopus 로고    scopus 로고
    • A CD46-like molecule functional in teleost fish represents an ancestral form of membrane-bound regulators of complement activation
    • Tsujikura M, Nagasawa T, Ichiki S, Nakamura R, Somamoto T, Nakao M. A CD46-like molecule functional in teleost fish represents an ancestral form of membrane-bound regulators of complement activation. J Immunol. 2015;194(1):262–72. doi:10.4049/jimmunol.1303179.
    • (2015) J Immunol , vol.194 , Issue.1 , pp. 262-272
    • Tsujikura, M.1    Nagasawa, T.2    Ichiki, S.3    Nakamura, R.4    Somamoto, T.5    Nakao, M.6
  • 14
    • 70350041296 scopus 로고    scopus 로고
    • Paths reunited: Initiation of the classical and lectin pathways of complement activation
    • doi:S0171-2985(09)00146-6 pii
    • Wallis R, Mitchell DA, Schmid R, Schwaeble WJ, Keeble AH. Paths reunited: initiation of the classical and lectin pathways of complement activation. Immunobiology.2010;215(1):1–11. doi:S0171-2985(09)00146-6 [pii] 10.1016/j.imbio.2009.08.006
    • (2010) Immunobiology , vol.215 , Issue.1 , pp. 1-11
    • Wallis, R.1    Mitchell, D.A.2    Schmid, R.3    Schwaeble, W.J.4    Keeble, A.H.5
  • 15
    • 84898071022 scopus 로고    scopus 로고
    • The making of a macromolecular machine: Assembly of the membrane attack complex
    • Bubeck D. The making of a macromolecular machine: assembly of the membrane attack complex. Biochemistry (Mosc). 2014;53(12):1908–15. doi:10.1021/bi500157z.
    • (2014) Biochemistry (Mosc) , vol.53 , Issue.12 , pp. 1908-1915
    • Bubeck, D.1
  • 17
    • 79955477674 scopus 로고    scopus 로고
    • CD46 in innate and adaptive immunity: An update
    • Cardone J, Le Friec G, Kemper C. CD46 in innate and adaptive immunity: an update. Clin Exp Immunol. 2011;164(3):301–11. doi:10.1111/j.1365-2249.2011.04400.x.
    • (2011) Clin Exp Immunol , vol.164 , Issue.3 , pp. 301-311
    • Cardone, J.1    Le Friec, G.2    Kemper, C.3
  • 18
    • 84886734479 scopus 로고    scopus 로고
    • CD46: The ‘multitasker’ of complement proteins
    • Yamamoto H, Fara AF, Dasgupta P, Kemper C. CD46: the ‘multitasker’ of complement proteins. Int J Biochem Cell Biol. 2013;45(12):2808–20. doi:10.1016/j.biocel.2013.09.016.
    • (2013) Int J Biochem Cell Biol , vol.45 , Issue.12 , pp. 2808-2820
    • Yamamoto, H.1    Fara, A.F.2    Dasgupta, P.3    Kemper, C.4
  • 19
    • 0024381235 scopus 로고
    • The regulators of complement activation (RCA) gene cluster
    • Hourcade D, Holers VM, Atkinson JP. The regulators of complement activation (RCA) gene cluster. Adv Immunol. 1989;45:381–416.
    • (1989) Adv Immunol , vol.45 , pp. 381-416
    • Hourcade, D.1    Holers, V.M.2    Atkinson, J.P.3
  • 20
    • 32044432615 scopus 로고    scopus 로고
    • Membrane complement regulatory proteins
    • Kim DD, Song WC. Membrane complement regulatory proteins. Clin Immunol. 2006;118(2–3):127–36.
    • (2006) Clin Immunol , vol.118 , Issue.2-3 , pp. 127-136
    • Kim, D.D.1    Song, W.C.2
  • 21
    • 36849084660 scopus 로고    scopus 로고
    • Translational mini-review series on complement factor H: Genetics and disease associations in human complement factor H
    • Rodriguez De Cordoba S, Goicoechea De Jorge E. Translational mini-review series on complement factor H: genetics and disease associations in human complement factor H. Clin Exp Immuno. 2008;151:1–13.
    • (2008) Clin Exp Immuno , vol.151 , pp. 1-13
    • Rodriguez De Cordoba, S.1    Goicoechea De Jorge, E.2
  • 22
    • 4644364097 scopus 로고    scopus 로고
    • Four viruses, two bacteria, and one receptor: Membrane cofactor protein (CD46) as pathogens’ magnet
    • Cattaneo R. Four viruses, two bacteria, and one receptor: membrane cofactor protein (CD46) as pathogens’ magnet. J Virol. 2004;78(9):4385–8.
    • (2004) J Virol , vol.78 , Issue.9 , pp. 4385-4388
    • Cattaneo, R.1
  • 23
    • 33845905781 scopus 로고    scopus 로고
    • T-cell regulation: With complements from innate immunity
    • Kemper C, Atkinson JP. T-cell regulation: with complements from innate immunity. Nat Rev Immunol. 2007;7(1):9–18.
    • (2007) Nat Rev Immunol , vol.7 , Issue.1 , pp. 9-18
    • Kemper, C.1    Atkinson, J.P.2
  • 25
    • 59349114095 scopus 로고    scopus 로고
    • Insights into adenovirus host cell interactions from structural studies
    • Nemerow GR, Pache L, Reddy V, Stewart PL. Insights into adenovirus host cell interactions from structural studies. Virology. 2009;384(2):380–8. doi:10.1016/j.virol.2008.10.016.
    • (2009) Virology , vol.384 , Issue.2 , pp. 380-388
    • Nemerow, G.R.1    Pache, L.2    Reddy, V.3    Stewart, P.L.4
  • 26
    • 77954733578 scopus 로고    scopus 로고
    • Human herpesvirus-6 entry into host cells
    • Tang H, Mori Y. Human herpesvirus-6 entry into host cells. Future Microbiol. 2010;5(7):1015–23. doi:10.2217/fmb.10.61.
    • (2010) Future Microbiol , vol.5 , Issue.7 , pp. 1015-1023
    • Tang, H.1    Mori, Y.2
  • 27
    • 76249122646 scopus 로고    scopus 로고
    • Presenilin/gamma-secretase cleaves CD46 in response to Neisseria infection
    • Weyand NJ, Calton CM, Higashi DL, Kanack KJ, So M. Presenilin/gamma-secretase cleaves CD46 in response to Neisseria infection. J Immuno. 2010;184(2):694––701. doi:10.4049/jimmunol.0900522. jimmunol.0900522.
    • (2010) J Immuno , vol.184 , Issue.2 , pp. 694-701
    • Weyand, N.J.1    Calton, C.M.2    Higashi, D.L.3    Kanack, K.J.4    So, M.5
  • 30
    • 79951819358 scopus 로고    scopus 로고
    • Fusobacterium nucleatum binding to complement regulatory protein CD46 modulates the expression and secretion of cytokines and matrix metalloproteinases by oral epithelial cells
    • Mahtout H, Chandad F, Rojo JM, Grenier D. Fusobacterium nucleatum binding to complement regulatory protein CD46 modulates the expression and secretion of cytokines and matrix metalloproteinases by oral epithelial cells. J Periodontol. 2011;82(2):311–9. doi:10.1902/jop.2010.100458.
    • (2011) J Periodontol , vol.82 , Issue.2 , pp. 311-319
    • Mahtout, H.1    Chandad, F.2    Rojo, J.M.3    Grenier, D.4
  • 31
    • 70349233992 scopus 로고    scopus 로고
    • Smallpox inhibitor of complement enzymes (SPICE): Dissecting functional sites and abrogating activity
    • Liszewski MK, Leung MK, Hauhart R, Fang CJ, Bertram P, Atkinson JP. Smallpox inhibitor of complement enzymes (SPICE): dissecting functional sites and abrogating activity. J Immunol. 2009;183:3150–9.
    • (2009) J Immunol , vol.183 , pp. 3150-3159
    • Liszewski, M.K.1    Leung, M.K.2    Hauhart, R.3    Fang, C.J.4    Bertram, P.5    Atkinson, J.P.6
  • 32
    • 84907598707 scopus 로고    scopus 로고
    • Viral regulators of complement activation: Structure, function and evolution
    • Ojha H, Panwar HS, Gorham Jr RD, Morikis D, Sahu A. Viral regulators of complement activation: structure, function and evolution. Mol Immunol. 2014;61(2):89–99. doi:10.1016/j.molimm.2014.06.004.
    • (2014) Mol Immunol , vol.61 , Issue.2 , pp. 89-99
    • Ojha, H.1    Panwar, H.S.2    Gorham, R.D.3    Morikis, D.4    Sahu, A.5
  • 33
    • 33644843082 scopus 로고    scopus 로고
    • Structure and regulatory profile of the monkeypox inhibitor of complement: Comparison to homologs in vaccinia and variola and evidence for dimer formation
    • Liszewski MK, Leung MK, Hauhart R, Buller RM, Bertram P, Wang X, et al. Structure and regulatory profile of the monkeypox inhibitor of complement: comparison to homologs in vaccinia and variola and evidence for dimer formation. J Immunol. 2006;176(6):3725–34.
    • (2006) J Immunol , vol.176 , Issue.6 , pp. 3725-3734
    • Liszewski, M.K.1    Leung, M.K.2    Hauhart, R.3    Buller, R.M.4    Bertram, P.5    Wang, X.6
  • 34
    • 41149162586 scopus 로고    scopus 로고
    • Identification of hot spots in the variola virus complement inhibitor (SPICE) for human complement regulation
    • Yadav VN, Pyaram K, Mullick J, Sahu A. Identification of hot spots in the variola virus complement inhibitor (SPICE) for human complement regulation. J Virol. 2008;82:3283–9.
    • (2008) J Virol , vol.82 , pp. 3283-3289
    • Yadav, V.N.1    Pyaram, K.2    Mullick, J.3    Sahu, A.4
  • 35
    • 77954948735 scopus 로고    scopus 로고
    • Effector T cell plasticity: Flexibility in the face of changing circumstances
    • Murphy KM, Stockinger B. Effector T cell plasticity: flexibility in the face of changing circumstances. Nat Immunol. 2010;11(8):674–80. doi:10.1038/ni.1899.
    • (2010) Nat Immunol , vol.11 , Issue.8 , pp. 674-680
    • Murphy, K.M.1    Stockinger, B.2
  • 36
    • 33745812440 scopus 로고    scopus 로고
    • Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome
    • Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey M-A, Blouin J, Caudy A, et al. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2006;17:2017–25.
    • (2006) J Am Soc Nephrol , vol.17 , pp. 2017-2025
    • Fremeaux-Bacchi, V.1    Moulton, E.A.2    Kavanagh, D.3    Dragon-Durey, M.-A.4    Blouin, J.5    Caudy, A.6
  • 37
    • 70449334145 scopus 로고    scopus 로고
    • CD46-induced human Treg enhance B-cell responses
    • Fuchs A, Atkinson JP, Fremeaux-Bacchi V, Kemper C. CD46-induced human Treg enhance B-cell responses. Eur J Immunol. 2009;39(11):3097–109. doi:10.1002/eji.200939392.
    • (2009) Eur J Immunol , vol.39 , Issue.11 , pp. 3097-3109
    • Fuchs, A.1    Atkinson, J.P.2    Fremeaux-Bacchi, V.3    Kemper, C.4
  • 38
    • 14644424005 scopus 로고    scopus 로고
    • Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32
    • Esparza-Gordillo J. Goicoechea De Jorge E, Buil A, Berges LC, Lopez-Trascasa M, Sanchez-Corral P, et al. Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. Hum Mol Genet. 2005;14(5):703–12.
    • (2005) Hum Mol Genet , vol.14 , Issue.5 , pp. 703-712
    • Esparza-Gordillo, J.1    Goicoechea De Jorge, E.2    Buil, A.3    Berges, L.C.4    Lopez-Trascasa, M.5    Sanchez-Corral, P.6
  • 39
    • 14644424005 scopus 로고    scopus 로고
    • Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32
    • CORRIGENDUM
    • Esparza-Gordillo J, Goicoechea De Jorge E, Buil A, Berges LC, Lopez-Trascasa M, Sanchez-Corral P, et al. Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. Hum Mol Gene. 2005;14(8):1107. CORRIGENDUM.
    • (2005) Hum Mol Gene , vol.14 , Issue.8 , pp. 1107
    • Esparza-Gordillo, J.1    Goicoechea De Jorge, E.2    Buil, A.3    Berges, L.C.4    Lopez-Trascasa, M.5    Sanchez-Corral, P.6
  • 40
    • 33847237272 scopus 로고    scopus 로고
    • The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: Update and integration of membrane cofactor protein and Factor I mutations with structural models
    • Saunders RE, Abarrategui-Garrido C, Fremeaux-Bacchi V. Goicoechea De Jorge E, Goodship TH, Lopez Trascasa M, et al. The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models Hum Mutat. 2007;28(3):222–34.
    • (2007) Hum Mutat , vol.28 , Issue.3 , pp. 222-234
    • Saunders, R.E.1    Abarrategui-Garrido, C.2    Fremeaux-Bacchi, V.3    Goicoechea De Jorge, E.4    Goodship, T.H.5    Lopez Trascasa, M.6
  • 41
    • 72549097037 scopus 로고    scopus 로고
    • Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome
    • Sullivan M, Erlic Z, Hoffmann MM, Arbeiter K, Patzer L, Budde K, et al. Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. Ann Hum Genet. 2010;74(1):17–26. doi:10.1111/j.1469-1809.2009.00554.x.
    • (2010) Ann Hum Genet , vol.74 , Issue.1 , pp. 17-26
    • Sullivan, M.1    Erlic, Z.2    Hoffmann, M.M.3    Arbeiter, K.4    Patzer, L.5    Budde, K.6
  • 42
    • 84883561031 scopus 로고    scopus 로고
    • Complement activation in diseases presenting with thrombotic microangiopathy
    • Meri S. Complement activation in diseases presenting with thrombotic microangiopathy. Eur J Intern Med. 2013;24(6):496–502. doi:10.1016/j.ejim.2013.05.009.
    • (2013) Eur J Intern Med , vol.24 , Issue.6 , pp. 496-502
    • Meri, S.1
  • 43
    • 84886250055 scopus 로고    scopus 로고
    • Atypical hemolytic uremic syndrome
    • Kavanagh D, Goodship TH, Richards A. Atypical hemolytic uremic syndrome. Semin Nephrol. 2013;33(6):508–30. doi:10.1016/j.semnephrol.2013.08.003.
    • (2013) Semin Nephrol , vol.33 , Issue.6 , pp. 508-530
    • Kavanagh, D.1    Goodship, T.H.2    Richards, A.3
  • 44
    • 0034531239 scopus 로고    scopus 로고
    • Dissecting sites important for complement regulatory activity in membrane cofactor protein (MCP; CD46)
    • Liszewski MK, Leung M, Cui W, Subramanian VB, Parkinson J, Barlow PN, et al. Dissecting sites important for complement regulatory activity in membrane cofactor protein (MCP; CD46). J Biol Chem. 2000;275(48):37692–701.
    • (2000) J Biol Chem , vol.275 , Issue.48 , pp. 37692-37701
    • Liszewski, M.K.1    Leung, M.2    Cui, W.3    Subramanian, V.B.4    Parkinson, J.5    Barlow, P.N.6
  • 45
    • 77952682366 scopus 로고    scopus 로고
    • Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome
    • Maga TK, Nishimura CJ, Weaver AE, Frees KL, Smith RJ. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mutat. 2010;31(6):E1445–60. doi:10.1002/humu.21256.
    • (2010) Hum Mutat , vol.31 , Issue.6 , pp. E1445-E1460
    • Maga, T.K.1    Nishimura, C.J.2    Weaver, A.E.3    Frees, K.L.4    Smith, R.J.5
  • 47
    • 33747159590 scopus 로고    scopus 로고
    • Genetics of HUS: The impact of MCP, CFH and IF mutations on clinical presentation, response to treatment, and outcome
    • Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, et al. Genetics of HUS: the impact of MCP, CFH and IF mutations on clinical presentation, response to treatment, and outcome. Blood. 2006;108:1267–79.
    • (2006) Blood , vol.108 , pp. 1267-1279
    • Caprioli, J.1    Noris, M.2    Brioschi, S.3    Pianetti, G.4    Castelletti, F.5    Bettinaglio, P.6
  • 48
    • 33751035523 scopus 로고    scopus 로고
    • Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome
    • Richards A, Liszewski MK, Kavanagh D, Fang CJ, Moulton EA, Fremeaux-Bacchi V, et al. Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome. Mol Immunol. 2007;44:111–22.
    • (2007) Mol Immunol , vol.44 , pp. 111-122
    • Richards, A.1    Liszewski, M.K.2    Kavanagh, D.3    Fang, C.J.4    Moulton, E.A.5    Fremeaux-Bacchi, V.6
  • 49
    • 84902134692 scopus 로고    scopus 로고
    • Spectrum of complement-mediated thrombotic microangiopathies: Pathogenetic insights identifying novel treatment approaches
    • Riedl M, Fakhouri F, Le Quintrec M, Noone DG, Jungraithmayr TC, Fremeaux-Bacchi V, et al. Spectrum of complement-mediated thrombotic microangiopathies: pathogenetic insights identifying novel treatment approaches. Semin Thromb Hemost. 2014;40(4):444–64. doi:10.1055/s-0034-1376153.
    • (2014) Semin Thromb Hemost , vol.40 , Issue.4 , pp. 444-464
    • Riedl, M.1    Fakhouri, F.2    Le Quintrec, M.3    Noone, D.G.4    Jungraithmayr, T.C.5    Fremeaux-Bacchi, V.6
  • 50
    • 80052565757 scopus 로고    scopus 로고
    • Atypical hemolytic uremic syndrome
    • Loirat C, Fremeaux-Bacchi V. Atypical hemolytic uremic syndrome. Orphanet J Rare Dis. 2011;6:60. doi:10.1186/1750-1172-6-60.
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 60
    • Loirat, C.1    Fremeaux-Bacchi, V.2
  • 51
    • 0242331610 scopus 로고    scopus 로고
    • Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome
    • Richards A, Kemp EJ, Liszewski MK, Goodship JA, Lampe AK, Decorte R, et al. Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc Natl Acad Sci U S A. 2003;100:12966–71.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 12966-12971
    • Richards, A.1    Kemp, E.J.2    Liszewski, M.K.3    Goodship, J.A.4    Lampe, A.K.5    Decorte, R.6
  • 54
    • 84891753035 scopus 로고    scopus 로고
    • Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome
    • Bu F, Maga T, Meyer NC, Wang K, Thomas CP, Nester CM, et al. Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2014;25(1):55–64. doi:10.1681/ASN.2013050453.
    • (2014) J Am Soc Nephrol , vol.25 , Issue.1 , pp. 55-64
    • Bu, F.1    Maga, T.2    Meyer, N.C.3    Wang, K.4    Thomas, C.P.5    Nester, C.M.6
  • 55
    • 84949117415 scopus 로고    scopus 로고
    • New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3
    • Rodriguez E, Rallapalli PM, Osborne AJ, Perkins SJ. New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3. Biosci Rep. 2014;34(5):art:e00146. doi:10.1042/BSR20140117.
    • (2014) Biosci Rep , vol.34 , Issue.5
    • Rodriguez, E.1    Rallapalli, P.M.2    Osborne, A.J.3    Perkins, S.J.4
  • 56
    • 84922695299 scopus 로고    scopus 로고
    • The local complement activation on vascular bed of patients with systemic sclerosis: A hypothesis-generating study
    • Scambi C, Ugolini S, Jokiranta TS, De Franceschi L, Bortolami O, La Verde V, et al. The local complement activation on vascular bed of patients with systemic sclerosis: a hypothesis-generating study. PLoS One. 2015;10(2), e0114856. doi:10.1371/journal.pone.0114856.
    • (2015) PLoS One , vol.10 , Issue.2
    • Scambi, C.1    Ugolini, S.2    Jokiranta, T.S.3    De Franceschi, L.4    Bortolami, O.5    La Verde, V.6
  • 57
    • 84855765646 scopus 로고    scopus 로고
    • Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus
    • Jonsen A, Nilsson SC, Ahlqvist E, Svenungsson E, Gunnarsson I, Eriksson KG, et al. Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus. Arthritis Res Ther. 2011;13(6):R206. doi:10.1186/ar3539.
    • (2011) Arthritis Res Ther , vol.13 , Issue.6 , pp. R206
    • Jonsen, A.1    Nilsson, S.C.2    Ahlqvist, E.3    Svenungsson, E.4    Gunnarsson, I.5    Eriksson, K.G.6
  • 58
    • 84867566240 scopus 로고    scopus 로고
    • The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome
    • Crovetto F, Borsa N, Acaia B, Nishimura C, Frees K, Smith RJ, et al. The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome. J Matern Fetal Neonatal Med. 2012;25(11):2322–5. doi:10.3109/14767058.2012.694923.
    • (2012) J Matern Fetal Neonatal Med , vol.25 , Issue.11 , pp. 2322-2325
    • Crovetto, F.1    Borsa, N.2    Acaia, B.3    Nishimura, C.4    Frees, K.5    Smith, R.J.6
  • 59
    • 79953691827 scopus 로고    scopus 로고
    • Mutations in complement regulatory proteins predispose to preeclampsia: A genetic analysis of the PROMISSE cohort
    • Salmon JE, Heuser C, Triebwasser M, Liszewski MK, Kavanagh D, Roumenina L, et al. Mutations in complement regulatory proteins predispose to preeclampsia: a genetic analysis of the PROMISSE cohort. PLoS Med. 2011;8(3), e1001013. doi:10.1371/journal.pmed.1001013.
    • (2011) PLoS Med , vol.8 , Issue.3
    • Salmon, J.E.1    Heuser, C.2    Triebwasser, M.3    Liszewski, M.K.4    Kavanagh, D.5    Roumenina, L.6
  • 60
    • 84879469163 scopus 로고    scopus 로고
    • Analysis of genes coding for CD46, CD55, and C4b-binding protein in patients with idiopathic, recurrent, spontaneous pregnancy loss
    • Mohlin FC, Mercier E, Fremeaux-Bacchi V, Liszewski MK, Atkinson JP, Gris JC, et al. Analysis of genes coding for CD46, CD55, and C4b-binding protein in patients with idiopathic, recurrent, spontaneous pregnancy loss. Eur J Immunol. 2013;43(6):1617–29. doi:10.1002/eji.201243196.
    • (2013) Eur J Immunol , vol.43 , Issue.6 , pp. 1617-1629
    • Mohlin, F.C.1    Mercier, E.2    Fremeaux-Bacchi, V.3    Liszewski, M.K.4    Atkinson, J.P.5    Gris, J.C.6
  • 61
    • 38349172121 scopus 로고    scopus 로고
    • Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome
    • Fang CJ, Fremeaux-Bacchi V, Liszewski MK, Pianetti G, Noris M, Goodship TH, et al. Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome. Blood. 2008;111(2):624–32. doi:10.1182/blood-2007-04-084533.
    • (2008) Blood , vol.111 , Issue.2 , pp. 624-632
    • Fang, C.J.1    Fremeaux-Bacchi, V.2    Liszewski, M.K.3    Pianetti, G.4    Noris, M.5    Goodship, T.H.6
  • 62
    • 34147180032 scopus 로고    scopus 로고
    • Primary glomerulonephritis with isolated C3 deposits: A new entity which shares common genetic risk factors with haemolytic uraemic syndrome
    • Servais A, Fremeaux-Bacchi V, Lequintrec M, Salomon R, Blouin J, Knebelmann B, et al. Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. J Med Genet. 2007;44(3):193–9.
    • (2007) J Med Genet , vol.44 , Issue.3 , pp. 193-199
    • Servais, A.1    Fremeaux-Bacchi, V.2    Lequintrec, M.3    Salomon, R.4    Blouin, J.5    Knebelmann, B.6
  • 63
    • 77749307396 scopus 로고    scopus 로고
    • Complement, age-related macular degeneration and a vision of the future
    • Gehrs KM, Jackson JR, Brown EN, Allikmets R, Hageman GS. Complement, age-related macular degeneration and a vision of the future. Arch Ophthalmol. 2010;128(3):349–58. doi:10.1001/archophthalmol.2010.18. 128/3/349.
    • (2010) Arch Ophthalmol , vol.128 , Issue.3 , pp. 349-358
    • Gehrs, K.M.1    Jackson, J.R.2    Brown, E.N.3    Allikmets, R.4    Hageman, G.S.5
  • 64
    • 84860389399 scopus 로고    scopus 로고
    • Age-related macular degeneration and the complement system
    • Khandhadia S, Cipriani V, Yates JR, Lotery AJ. Age-related macular degeneration and the complement system. Immunobiology. 2012;217(2):127–46. doi:10.1016/j.imbio.2011.07.019. S0171-2985(11) 00159-8.
    • (2012) Immunobiology , vol.217 , Issue.2 , pp. 127-146
    • Khandhadia, S.1    Cipriani, V.2    Yates, J.R.3    Lotery, A.J.4
  • 65
    • 84899081985 scopus 로고    scopus 로고
    • Nature and nurture-genes and environment-predict onset and progression of macular degeneration
    • Sobrin L, Seddon JM. Nature and nurture-genes and environment-predict onset and progression of macular degeneration. Prog Retin Eye Res. 2014;40:1–15. doi:10.1016/j.preteyeres.2013.12.004.
    • (2014) Prog Retin Eye Res , vol.40 , pp. 1-15
    • Sobrin, L.1    Seddon, J.M.2
  • 66
    • 84907598829 scopus 로고    scopus 로고
    • Genetic variants in the complement system predisposing to age-related macular degeneration: A review
    • Schramm EC, Clark SJ, Triebwasser MP, Raychaudhuri S, Seddon JM, Atkinson JP. Genetic variants in the complement system predisposing to age-related macular degeneration: a review. Mol Immunol. 2014;61(2):118–25. doi:10.1016/j.molimm.2014.06.032.
    • (2014) Mol Immunol , vol.61 , Issue.2 , pp. 118-125
    • Schramm, E.C.1    Clark, S.J.2    Triebwasser, M.P.3    Raychaudhuri, S.4    Seddon, J.M.5    Atkinson, J.P.6
  • 67
    • 84912027363 scopus 로고    scopus 로고
    • Relationship between the complement system, risk factors and prediction models in age-related macular degeneration
    • Bora NS, Matta B, Lyzogubov VV, Bora PS. Relationship between the complement system, risk factors and prediction models in age-related macular degeneration. Mol Immunol. 2015;63(2):176–83. doi:10.1016/j.molimm.2014.07.012.
    • (2015) Mol Immunol , vol.63 , Issue.2 , pp. 176-183
    • Bora, N.S.1    Matta, B.2    Lyzogubov, V.V.3    Bora, P.S.4
  • 68
    • 84878589219 scopus 로고    scopus 로고
    • Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome
    • Legendre CM, Licht C, Muus P, Greenbaum LA, Babu S, Bedrosian C, et al. Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome. N Engl J Med. 2013;368(23):2169–81. doi:10.1056/NEJMoa1208981.
    • (2013) N Engl J Med , vol.368 , Issue.23 , pp. 2169-2181
    • Legendre, C.M.1    Licht, C.2    Muus, P.3    Greenbaum, L.A.4    Babu, S.5    Bedrosian, C.6
  • 69
    • 83655163908 scopus 로고    scopus 로고
    • Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP
    • Provaznikova D, Rittich S, Malina M, Seeman T, Marinov I, Riedl M, et al. Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP. Pediatr Nephrol. 2012;27(1):73–81. doi:10.1007/s00467-011-1943-5.
    • (2012) Pediatr Nephrol , vol.27 , Issue.1 , pp. 73-81
    • Provaznikova, D.1    Rittich, S.2    Malina, M.3    Seeman, T.4    Marinov, I.5    Riedl, M.6
  • 70
    • 84872174501 scopus 로고    scopus 로고
    • Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome
    • Fan X, Yoshida Y, Honda S, Matsumoto M, Sawada Y, Hattori M, et al. Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome. Mol Immunol. 2013;54(2):238–46. doi:10.1016/j.molimm.2012.12.006.
    • (2013) Mol Immunol , vol.54 , Issue.2 , pp. 238-246
    • Fan, X.1    Yoshida, Y.2    Honda, S.3    Matsumoto, M.4    Sawada, Y.5    Hattori, M.6
  • 71
    • 84876044818 scopus 로고    scopus 로고
    • Genetics and outcome of atypical hemolytic uremic syndrome: A nationwide French series comparing children and adults
    • Fremeaux-Bacchi V, Fakhouri F, Garnier A, Bienaime F, Dragon-Durey MA, Ngo S, et al. Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults. CJASN. 2013;8(4):554–62. doi:10.2215/CJN.04760512.
    • (2013) CJASN , vol.8 , Issue.4 , pp. 554-562
    • Fremeaux-Bacchi, V.1    Fakhouri, F.2    Garnier, A.3    Bienaime, F.4    Dragon-Durey, M.A.5    Ngo, S.6
  • 72
    • 77958587405 scopus 로고    scopus 로고
    • Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype
    • Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. CJASN. 2010;5(10):1844–59. doi:10.2215/CJN.02210310.
    • (2010) CJASN , vol.5 , Issue.10 , pp. 1844-1859
    • Noris, M.1    Caprioli, J.2    Bresin, E.3    Mossali, C.4    Pianetti, G.5    Gamba, S.6
  • 73
    • 84891762496 scopus 로고    scopus 로고
    • Successful long-term treatment of TMA with Eculizumab in a transplanted patient with atypical hemolytic uremic syndrome due to MCP mutation
    • Reuter S, Heitplatz B, Pavenstadt H, Suwelack B. Successful long-term treatment of TMA with Eculizumab in a transplanted patient with atypical hemolytic uremic syndrome due to MCP mutation. Transplantation. 2013;96(10):e74–6. doi:10.1097/01.TP.0000435705.63428.1f.
    • (2013) Transplantation , vol.96 , Issue.10 , pp. e74-e76
    • Reuter, S.1    Heitplatz, B.2    Pavenstadt, H.3    Suwelack, B.4
  • 74
    • 33846611465 scopus 로고    scopus 로고
    • Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy
    • Fremeaux-Bacchi V, Sanlaville D, Menouer S, Blouin J, Dragon-Durey MA, Fischbach M, et al. Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy. Am J Kidney Dis. 2007;49(2):323–9. doi:10.1053/j.ajkd.2006.10.022.
    • (2007) Am J Kidney Dis , vol.49 , Issue.2 , pp. 323-329
    • Fremeaux-Bacchi, V.1    Sanlaville, D.2    Menouer, S.3    Blouin, J.4    Dragon-Durey, M.A.5    Fischbach, M.6
  • 75
    • 69249100433 scopus 로고    scopus 로고
    • Varicella as a trigger of atypical haemolytic uraemic syndrome associated with complement dysfunction: Two cases
    • Kwon T, Belot A, Ranchin B, Baudouin V, Fremeaux-Bacchi V, Dragon-Durey MA, et al. Varicella as a trigger of atypical haemolytic uraemic syndrome associated with complement dysfunction: two cases. Nephrol Dial Transplant. 2009;24(9):2752–4. doi:10.1093/ndt/gfp166.
    • (2009) Nephrol Dial Transplant , vol.24 , Issue.9 , pp. 2752-2754
    • Kwon, T.1    Belot, A.2    Ranchin, B.3    Baudouin, V.4    Fremeaux-Bacchi, V.5    Dragon-Durey, M.A.6
  • 76
    • 84885443208 scopus 로고    scopus 로고
    • Rapid recovery of membrane cofactor protein (MCP; CD46) associated atypical haemolytic uraemic syndrome with plasma exchange
    • (sep04 1) bcr2013200980
    • Reid VL, Mullan A, Erwig LP. Rapid recovery of membrane cofactor protein (MCP; CD46) associated atypical haemolytic uraemic syndrome with plasma exchange. BMJ case reports. 2013;2013(sep04 1):bcr2013200980–bcr2013200980. doi:10.1136/bcr-2013-200980.
    • (2013) BMJ Case Reports , vol.2013
    • Reid, V.L.1    Mullan, A.2    Erwig, L.P.3
  • 77
    • 77953593277 scopus 로고    scopus 로고
    • Triggering of atypical hemolytic uremic syndrome by influenza A (H1N1)
    • Bento D, Mapril J, Rocha C, Marchbank KJ, Kavanagh D, Barge D, et al. Triggering of atypical hemolytic uremic syndrome by influenza A (H1N1). Ren Fail. 2010;32(6):753–6. doi:10.3109/0886022×.2010.486491.
    • (2010) Ren Fail , vol.32 , Issue.6 , pp. 753-756
    • Bento, D.1    Mapril, J.2    Rocha, C.3    Marchbank, K.J.4    Kavanagh, D.5    Barge, D.6
  • 78
    • 77952556624 scopus 로고    scopus 로고
    • Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations
    • Fakhouri F, Roumenina L, Provot F, Sallee M, Caillard S, Couzi L, et al. Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. J Am Soc Nephrol. 2010;21(5):859–67. doi:10.1681/ASN.2009070706.
    • (2010) J Am Soc Nephrol , vol.21 , Issue.5 , pp. 859-867
    • Fakhouri, F.1    Roumenina, L.2    Provot, F.3    Sallee, M.4    Caillard, S.5    Couzi, L.6
  • 79
    • 84878650507 scopus 로고    scopus 로고
    • Successful long-term outcome after renal transplantation in a patient with atypical haemolytic uremic syndrome with combined membrane cofactor protein CD46 and complement factor I mutations
    • Pabst WL, Neuhaus TJ, Nef S, Bresin E, Zingg-Schenk A, Sparta G. Successful long-term outcome after renal transplantation in a patient with atypical haemolytic uremic syndrome with combined membrane cofactor protein CD46 and complement factor I mutations. Pediatr Nephrol. 2013. doi:10.1007/s00467-013-2450-7.
    • (2013) Pediatr Nephrol
    • Pabst, W.L.1    Neuhaus, T.J.2    Nef, S.3    Bresin, E.4    Zingg-Schenk, A.5    Sparta, G.6
  • 80
    • 33947137687 scopus 로고    scopus 로고
    • Secondary systemic lupus erythematosus: An analysis of 4 cases of uncontrolled hereditary angioedema
    • Khan S, Tarzi MD, Dore PC, Sewell WA, Longhurst HJ. Secondary systemic lupus erythematosus: an analysis of 4 cases of uncontrolled hereditary angioedema. Clin Immunol. 2007;123(1):14–7.
    • (2007) Clin Immunol , vol.123 , Issue.1 , pp. 14-17
    • Khan, S.1    Tarzi, M.D.2    Dore, P.C.3    Sewell, W.A.4    Longhurst, H.J.5
  • 81
    • 84924655730 scopus 로고    scopus 로고
    • A novel CD46 mutation in a patient with microangiopathy clinically resembling thrombotic thrombocytopenic purpura and normal ADAMTS13 activity
    • Rossio R, Lotta LA, Pontiggia S, Borsa Ghiringhelli N, Garagiola I, Ardissino G, et al. A novel CD46 mutation in a patient with microangiopathy clinically resembling thrombotic thrombocytopenic purpura and normal ADAMTS13 activity. Haematologica. 2015;100:e87–9. doi:10.3324/haematol.2014.111062.
    • (2015) Haematologica , vol.100 , pp. e87-e89
    • Rossio, R.1    Lotta, L.A.2    Pontiggia, S.3    Borsa Ghiringhelli, N.4    Garagiola, I.5    Ardissino, G.6
  • 82
    • 84923573522 scopus 로고    scopus 로고
    • Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients
    • Mohlin FC, Nilsson SC, Levart TK, Golubovic E, Rusai K, Muller-Sacherer T, et al. Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients. Mol Immunol. 2015;65(2):367–76. doi:10.1016/j.molimm.2015.02.013.
    • (2015) Mol Immunol , vol.65 , Issue.2 , pp. 367-376
    • Mohlin, F.C.1    Nilsson, S.C.2    Levart, T.K.3    Golubovic, E.4    Rusai, K.5    Muller-Sacherer, T.6
  • 83
    • 84880573893 scopus 로고    scopus 로고
    • Neurologic involvement in atypical hemolytic uremic syndrome and successful treatment with eculizumab
    • Gulleroglu K, Fidan K, Hancer VS, Bayrakci U, Baskin E, Soylemezoglu O. Neurologic involvement in atypical hemolytic uremic syndrome and successful treatment with eculizumab. Pediatr Nephrol. 2013;28(5):827–30. doi:10.1007/s00467-013-2416-9.
    • (2013) Pediatr Nephrol , vol.28 , Issue.5 , pp. 827-830
    • Gulleroglu, K.1    Fidan, K.2    Hancer, V.S.3    Bayrakci, U.4    Baskin, E.5    Soylemezoglu, O.6
  • 84
    • 77954328285 scopus 로고    scopus 로고
    • Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS)
    • Westra D, Volokhina E, van der Heijden E, Vos A, Huigen M, Jansen J, et al. Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS). Nephrol Dial Transplant. 2010;25(7):2195–202. doi:10.1093/ndt/gfq010.
    • (2010) Nephrol Dial Transplant , vol.25 , Issue.7 , pp. 2195-2202
    • Westra, D.1    Volokhina, E.2    Van Der Heijden, E.3    Vos, A.4    Huigen, M.5    Jansen, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.