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Volumn 67, Issue 11, 2008, Pages 1589-1595

A novel TNFRSF1A splice mutation associated with increased nuclear factor KappaB (NF-κB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; CYTOKINE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; PROTEIN DERIVATIVE; TNFRSF1A PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

EID: 54349104056     PISSN: 00034967     EISSN: None     Source Type: Journal    
DOI: 10.1136/ard.2007.078667     Document Type: Article
Times cited : (37)

References (23)
  • 1
    • 0033515520 scopus 로고    scopus 로고
    • Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
    • McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999;97:133-44.
    • (1999) Cell , vol.97 , pp. 133-144
    • McDermott, M.F.1    Aksentijevich, I.2    Galon, J.3    McDermott, E.M.4    Ogunkolade, B.W.5    Centola, M.6
  • 3
    • 0034926933 scopus 로고    scopus 로고
    • The tumor-necrosis-factor receptor-associated periodic syndrome: New mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
    • Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, et al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 2001;69:301-14.
    • (2001) Am J Hum Genet , vol.69 , pp. 301-314
    • Aksentijevich, I.1    Galon, J.2    Soares, M.3    Mansfield, E.4    Hull, K.5    Oh, H.H.6
  • 4
    • 0036675112 scopus 로고    scopus 로고
    • The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome
    • Dode C, Andre M, Bienvenu T, Hausfater P, Pecheux C, Bienvenu J, et al. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002;46:2181-8.
    • (2002) Arthritis Rheum , vol.46 , pp. 2181-2188
    • Dode, C.1    Andre, M.2    Bienvenu, T.3    Hausfater, P.4    Pecheux, C.5    Bienvenu, J.6
  • 5
    • 0141564873 scopus 로고    scopus 로고
    • Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes
    • Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HKP, et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum 2003;48:2632-44.
    • (2003) Arthritis Rheum , vol.48 , pp. 2632-2644
    • Aganna, E.1    Hammond, L.2    Hawkins, P.N.3    Aldea, A.4    McKee, S.A.5    van Amstel, H.K.P.6
  • 6
    • 0742321759 scopus 로고    scopus 로고
    • Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family
    • Kusuhara K, Nomura A, Nakao F, Hara T. Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. Eur J Pediatr 2004;163:30-2.
    • (2004) Eur J Pediatr , vol.163 , pp. 30-32
    • Kusuhara, K.1    Nomura, A.2    Nakao, F.3    Hara, T.4
  • 8
    • 0036161835 scopus 로고    scopus 로고
    • An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome
    • Aganna E, Zeharia A, Hitman GA, Basel-Vanagaite L, Allotey RA, Booth DR, et al. An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002;46:245-9.
    • (2002) Arthritis Rheum , vol.46 , pp. 245-249
    • Aganna, E.1    Zeharia, A.2    Hitman, G.A.3    Basel-Vanagaite, L.4    Allotey, R.A.5    Booth, D.R.6
  • 12
    • 0042573869 scopus 로고    scopus 로고
    • Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: Implications for pathogenesis
    • Kriegel MA, Huffmeier U, Scherb E, Scheidig C, Geiler T, Kalden JR, et al. Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis. Arthritis Rheum 2003;48:2386-8.
    • (2003) Arthritis Rheum , vol.48 , pp. 2386-2388
    • Kriegel, M.A.1    Huffmeier, U.2    Scherb, E.3    Scheidig, C.4    Geiler, T.5    Kalden, J.R.6
  • 13
    • 33644878847 scopus 로고    scopus 로고
    • Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis - pathogenetic and clinical implications
    • D'Osualdo A, Ferlito F, Prigione I, Obici L, Meini A, Zulian F, et al. Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis - pathogenetic and clinical implications. Arthritis Rheum 2006;54:998-1008.
    • (2006) Arthritis Rheum , vol.54 , pp. 998-1008
    • D'Osualdo, A.1    Ferlito, F.2    Prigione, I.3    Obici, L.4    Meini, A.5    Zulian, F.6
  • 14
    • 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)
    • Lobito AA, Kimberley FC, Muppidi JR, Komarow H, Jackson AJ, Hull KM, et al. Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS). Blood 2006;108:1320-7.
    • (2006) Blood , vol.108 , 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
  • 15
    • 38149024911 scopus 로고    scopus 로고
    • Abnormal tumor necrosis factor receptor I cell surface expression and NF-κB activation in tumor necrosis factor receptor-associated periodic syndrome
    • Nedjai B, Hitman GA, Yousaf N, Chernajovsky Y, Stjernberg S, Pettersson T, et al. Abnormal tumor necrosis factor receptor I cell surface expression and NF-κB activation in tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2008;58:273-83.
    • (2008) Arthritis Rheum , vol.58 , pp. 273-283
    • Nedjai, B.1    Hitman, G.A.2    Yousaf, N.3    Chernajovsky, Y.4    Stjernberg, S.5    Pettersson, T.6
  • 16
    • 0027211704 scopus 로고
    • Crystal-atructure of the soluble human 55 kD TNF receptor-human TNF-β complex - implications for TNF receptor activation
    • Banner DW, Darcy A, Janes W, Gentz R, Schoenfeld HJ, Broger C, et al. Crystal-atructure of the soluble human 55 kD TNF receptor-human TNF-β complex - implications for TNF receptor activation. Cell 1993;73:431-45.
    • (1993) Cell , vol.73 , pp. 431-445
    • Banner, D.W.1    Darcy, A.2    Janes, W.3    Gentz, R.4    Schoenfeld, H.J.5    Broger, C.6
  • 18
    • 0027136282 scopus 로고
    • Comparative protein modeling by satisfaction of spatial restraints
    • Sali A, Blundell TL. Comparative protein modeling by satisfaction of spatial restraints. J Mol Biol 1993;234:779-815.
    • (1993) J Mol Biol , vol.234 , pp. 779-815
    • Sali, A.1    Blundell, T.L.2
  • 19
    • 0036225529 scopus 로고    scopus 로고
    • A novel mutation in the third extracellular domain of the tumor necrosis factor receptor 1 in a Finnish family with autosomal-dominant recurrent fever
    • Nevala H, Karenko L, Stjernberg S, Raatikainen M, Suomalainen H, Lagerstedt A, et al. A novel mutation in the third extracellular domain of the tumor necrosis factor receptor 1 in a Finnish family with autosomal-dominant recurrent fever. Arthritis Rheum 2002;46:1061- 6.
    • (2002) Arthritis Rheum , vol.46 , pp. 1061-1066
    • Nevala, H.1    Karenko, L.2    Stjernberg, S.3    Raatikainen, M.4    Suomalainen, H.5    Lagerstedt, A.6
  • 20
    • 0028914683 scopus 로고
    • Activation of Ret as a dominant transforming gene by germline mutations of Men2a and Men2b
    • Santoro M, Carlomagno F, Romano A, Bottaro DP, Dathan NA, Grieco M, et al. Activation of Ret as a dominant transforming gene by germline mutations of Men2a and Men2b. Science 1995;267:381-3.
    • (1995) Science , vol.267 , pp. 381-383
    • Santoro, M.1    Carlomagno, F.2    Romano, A.3    Bottaro, D.P.4    Dathan, N.A.5    Grieco, M.6
  • 22
    • 0036444250 scopus 로고    scopus 로고
    • Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept
    • Arkwright PD, McDermottt MF, Houten SM, Frenkel J, Waterhan HR, Aganna E, et al. Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept. Clin Exp Immunol 2002;130:484- 8.
    • (2002) Clin Exp Immunol , vol.130 , pp. 484-488
    • Arkwright, P.D.1    McDermottt, M.F.2    Houten, S.M.3    Frenkel, J.4    Waterhan, H.R.5    Aganna, E.6
  • 23
    • 28844472948 scopus 로고    scopus 로고
    • Elevated NF-κB p50 complex formation and Bcl-3 expression in classical Hodgkin, anaplastic large-cell, and other peripheral T-cell lymphomas
    • Mathas S, Johrens K, Joos S, Lietz A, Hummel F, Janz M, et al. Elevated NF-κB p50 complex formation and Bcl-3 expression in classical Hodgkin, anaplastic large-cell, and other peripheral T-cell lymphomas. Blood 2005;106:4287-93.
    • (2005) Blood , vol.106 , pp. 4287-4293
    • Mathas, S.1    Johrens, K.2    Joos, S.3    Lietz, A.4    Hummel, F.5    Janz, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.