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Volumn 39, Issue 1, 2012, Pages 117-121

TNFSFR1A R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina

Author keywords

Genetics; Multiple sclerosis; Risk factor; Tumour necrosis factor receptor

Indexed keywords

GENOMIC DNA; TUMOR NECROSIS FACTOR RECEPTOR 1;

EID: 84855204022     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-011-0716-3     Document Type: Article
Times cited : (11)

References (22)
  • 1
    • 0036733312 scopus 로고    scopus 로고
    • The TNF receptor-associated periodic syndrome (TRAPS): Emerging concepts of an autoinflammatory disorder
    • 10.1097/00005792-200209000-00002 1:CAS:528:DC%2BD38XnsVWmu7s%3D
    • KM Hull E Drewe I Aksentijevich HK Singh K Wong EM McDermott J Dean RJ Powell DL Kastner 2002 The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder Medicine (Baltimore) 81 5 349 368 10.1097/00005792-200209000-00002 1:CAS:528:DC%2BD38XnsVWmu7s%3D
    • (2002) Medicine (Baltimore) , vol.81 , Issue.5 , pp. 349-368
    • Hull, K.M.1    Drewe, E.2    Aksentijevich, I.3    Singh, H.K.4    Wong, K.5    McDermott, E.M.6    Dean, J.7    Powell, R.J.8    Kastner, D.L.9
  • 2
    • 0020428767 scopus 로고
    • Familial hibernian fever
    • LM Williamson D Hull R Mehta WG Reeves BH Robinson PJ Toghill 1982 Familial Hibernian fever Q J Med 51 204 469 480 7156325 1:STN:280: DyaL3s7hvVeitA%3D%3D (Pubitemid 13224401)
    • (1982) Quarterly Journal of Medicine , vol.51 , Issue.204 , pp. 469-480
    • Williamson, L.M.1    Hull, D.2    Mehta, R.3
  • 4
    • 33747780470 scopus 로고    scopus 로고
    • Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene
    • DOI 10.1136/ard.2005.048611
    • N Ravet S Rouaghe C Dode J Bienvenu J Stirnemann P Levy M Delpech G Grateau 2006 Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene Ann Rheum Dis 65 9 1158 1162 10.1136/ard.2005.048611 16569687 10.1136/ard.2005.048611 1:CAS:528: DC%2BD28XpvVens7g%3D (Pubitemid 44277389)
    • (2006) Annals of the Rheumatic Diseases , vol.65 , Issue.9 , pp. 1158-1162
    • Ravet, N.1    Rouaghe, S.2    Dode, C.3    Bienvenu, J.4    Stirnemann, J.5    Levy, P.6    Delpech, M.7    Grateau, G.8
  • 6
    • 58149240956 scopus 로고    scopus 로고
    • Multiple sclerosis and the TNFRSF1A R92Q mutation: Clinical characteristics of 21 cases
    • 10.1212/01.wnl.0000335930.18776.47 19029521 10.1212/01.wnl.0000335930. 18776.47 1:STN:280:DC%2BD1cjmtFKgtA%3D%3D
    • T Kumpfel LA Hoffmann H Pellkofer W Pollmann W Feneberg R Hohlfeld P Lohse 2008 Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases Neurology 71 22 1812 1820 10.1212/01.wnl.0000335930. 18776.47 19029521 10.1212/01.wnl.0000335930.18776.47 1:STN:280: DC%2BD1cjmtFKgtA%3D%3D
    • (2008) Neurology , vol.71 , Issue.22 , pp. 1812-1820
    • Kumpfel, T.1    Hoffmann, L.A.2    Pellkofer, H.3    Pollmann, W.4    Feneberg, W.5    Hohlfeld, R.6    Lohse, P.7
  • 7
    • 4644283020 scopus 로고    scopus 로고
    • Tumour necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous involvement
    • DOI 10.1136/ard.2003.016006
    • K Minden E Aganna MF McDermott A Zink 2004 Tumour necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvement Ann Rheum Dis 63 10 1356 1357 10.1136/ard.2003.016006 15361406 10.1136/ard.2003.016006 1:STN:280:DC%2BD2cvlt1agsw%3D%3D (Pubitemid 39273529)
    • (2004) Annals of the Rheumatic Diseases , vol.63 , Issue.10 , pp. 1356-1357
    • Minden, K.1    Aganna, E.2    McDermott, M.F.3    Zink, A.4
  • 8
    • 41549140540 scopus 로고    scopus 로고
    • TRAPS and MS: Two diseases or an MS mimic?
    • DOI 10.1212/01.wnl.0000307670.62365.08
    • S Sriram 2008 TRAPS and MS: two diseases or an MS mimic? Neurology 70 13 Pt 2 1077 1078 10.1212/01.wnl.0000307670.62365.08 18362272 (Pubitemid 351464762)
    • (2008) Neurology , vol.70 , Issue.13 PART 2 , pp. 1077-1078
    • Sriram, S.1
  • 9
    • 0033546665 scopus 로고    scopus 로고
    • TNF neutralization in MS: Results of a randomized, placebo-controlled multicenter study
    • The Lenercept Multiple Sclerosis Study Group and The University of British Columbia MS/MRI Analysis Group
    • TNF neutralization in MS: results of a randomized, placebo-controlled multicenter study. The Lenercept Multiple Sclerosis Study Group and The University of British Columbia MS/MRI Analysis Group (1999). Neurology 53 (3):457-465
    • (1999) Neurology , vol.53 , Issue.3 , pp. 457-465
  • 10
    • 0034955141 scopus 로고    scopus 로고
    • Recommended diagnostic criteria for multiple sclerosis: Guidelines from the International Panel on the Diagnosis of Multiple Sclerosis
    • DOI 10.1002/ana.1032
    • WI McDonald A Compston G Edan D Goodkin HP Hartung FD Lublin HF McFarland DW Paty CH Polman SC Reingold M Sandberg-Wollheim W Sibley A Thompson S van den Noort BY Weinshenker JS Wolinsky 2001 Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis Ann Neurol 50 1 121 127 11456302 10.1002/ana.1032 1:STN:280:DC%2BD38%2FitFOhug%3D%3D (Pubitemid 32591472)
    • (2001) Annals of Neurology , vol.50 , Issue.1 , pp. 121-127
    • Buckley, C.1    Douek, D.2    Newsom-Davis, J.3    Vincent, A.4    Willcox, N.5
  • 11
    • 41549156916 scopus 로고    scopus 로고
    • TNFRSF1A R92Q mutation in association with a multiple sclerosis-like demyelinating syndrome
    • DOI 10.1212/01.wnl.0000296279.98236.8a, PII 0000611420080325100005
    • LA Hoffmann P Lohse FB Konig W Feneberg R Hohlfeld T Kumpfel 2008 TNFRSF1A R92Q mutation in association with a multiple sclerosis-like demyelinating syndrome Neurology 70 13 Pt 2 1155 1156 10.1212/01.wnl.0000296279. 98236.8a 18287568 1:STN:280:DC%2BD1c3gt1Kmsg%3D%3D (Pubitemid 351464752)
    • (2008) Neurology , vol.70 , Issue.13 PART 2 , pp. 1155-1156
    • Hoffmann, L.A.1    Lohse, P.2    Konig, F.B.3    Feneberg, W.4    Hohlfeld, R.5    Kumpfel, T.6
  • 12
    • 0030710993 scopus 로고    scopus 로고
    • Facial palsy in multiple sclerosis
    • DOI 10.1007/s004150050158
    • T Fukazawa F Moriwaka K Hamada T Hamada K Tashiro 1997 Facial palsy in multiple sclerosis J Neurol 244 10 631 633 9402539 10.1007/s004150050158 1:STN:280:DyaK1c%2Fms1Wmuw%3D%3D (Pubitemid 27485018)
    • (1997) Journal of Neurology , vol.244 , Issue.10 , pp. 631-633
    • Fukazawa, T.1    Moriwaka, F.2    Hamada, K.3    Hamada, T.4    Tashiro, K.5
  • 14
    • 0344404087 scopus 로고    scopus 로고
    • Tumor necrosis factor-α response and herpesvirus infection in Bell's palsy
    • DOI 10.1097/00005537-199808000-00013
    • C Larsson C Bernstrom-Lundberg S Edstrom T Bergstrom 1998 Tumor necrosis factor-alpha response and herpesvirus infection in Bell's palsy Laryngoscope 108 8 Pt 1 1171 1176 9707238 10.1097/00005537-199808000-00013 1:CAS:528: DyaK1cXls1Ckt7Y%3D (Pubitemid 28373480)
    • (1998) Laryngoscope , vol.108 , Issue.8 , pp. 1171-1176
    • Larsson, C.1    Bernstrom-Lundberg, C.2    Edstrom, S.3    Bergstrom, T.4
  • 18
    • 33747162175 scopus 로고    scopus 로고
    • Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)
    • DOI 10.1182/blood-2005-11-006783
    • AA Lobito FC Kimberley JR Muppidi H Komarow AJ Jackson KM Hull DL Kastner GR Screaton RM Siegel 2006 Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS) Blood 108 4 1320 1327 10.1182/blood-2005-11- 006783 16684962 10.1182/blood-2005-11-006783 1:CAS:528:DC%2BD28Xot1ymuro%3D (Pubitemid 44232031)
    • (2006) Blood , vol.108 , Issue.4 , pp. 1320-1327
    • Lobito, A.A.1    Kimberley, F.C.2    Muppidi, J.R.3    Komarow, H.4    Jackson, A.J.5    Hull, K.M.6    Kastner, D.L.7    Screaton, G.R.8    Siegel, R.M.9
  • 19
    • 77952754400 scopus 로고    scopus 로고
    • Sacroileitis and pericarditis: Atypical presentation of tumor necrosis factor receptor-associated periodic syndrome and response to etanercept therapy
    • 20483057 1:STN:280:DC%2BC3cjgsleltg%3D%3D
    • L Cantarini OM Lucherini R Cimaz CT Baldari F Laghi Pasini M Galeazzi 2010 Sacroileitis and pericarditis: atypical presentation of tumor necrosis factor receptor-associated periodic syndrome and response to etanercept therapy Clin Exp Rheumatol 28 2 290 291 20483057 1:STN:280:DC%2BC3cjgsleltg%3D%3D
    • (2010) Clin Exp Rheumatol , vol.28 , Issue.2 , pp. 290-291
    • Cantarini, L.1    Lucherini, O.M.2    Cimaz, R.3    Baldari, C.T.4    Laghi Pasini, F.5    Galeazzi, M.6
  • 22
    • 34548171157 scopus 로고    scopus 로고
    • The low-penetrance R92Q mutation of the tumour necrosis factor superfamily 1A gene is neither a major risk factor for Wegener's granulomatosis nor multiple sclerosis [3]
    • DOI 10.1136/ard.2006.065987
    • DE Jenne PM Aries S Einwachter AD Akkad S Wieczorek P Lamprecht WL Gross 2007 The low-penetrance R92Q mutation of the tumour necrosis factor superfamily 1A gene is neither a major risk factor for Wegener's granulomatosis nor multiple sclerosis Ann Rheum Dis 66 9 1266 1267 10.1136/ard.2006.065987 17693606 10.1136/ard.2006.065987 (Pubitemid 47309751)
    • (2007) Annals of the Rheumatic Diseases , vol.66 , Issue.9 , pp. 1266-1267
    • Jenne, D.E.1    Aries, P.M.2    Einwachter, S.3    Akkad, A.D.4    Wieczorek, S.5    Lamprecht, P.6    Gross, W.L.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.