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Volumn 109, Issue 12, 2007, Pages 5234-5237

Perforin gene mutations in patients with acquired aplastic anemia

Author keywords

[No Author keywords available]

Indexed keywords

PERFORIN;

EID: 34250028444     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2006-12-063495     Document Type: Article
Times cited : (46)

References (25)
  • 1
    • 33750628439 scopus 로고    scopus 로고
    • Current concepts in the pathophysiology and treatment of aplastic anemia
    • Young NS, Calado RT, Scheinberg P. Current concepts in the pathophysiology and treatment of aplastic anemia. Blood. 2006;108:2509-2519.
    • (2006) Blood , vol.108 , pp. 2509-2519
    • Young, N.S.1    Calado, R.T.2    Scheinberg, P.3
  • 2
    • 33646546357 scopus 로고    scopus 로고
    • Solomou EE, Keyvanfar K, Young NS. T-bet, a Th1 transcription factor, is up-regulated in T cells from patients with aplastic anemia. Blood. 2006;107:3983-3991.
    • Solomou EE, Keyvanfar K, Young NS. T-bet, a Th1 transcription factor, is up-regulated in T cells from patients with aplastic anemia. Blood. 2006;107:3983-3991.
  • 3
    • 0022468005 scopus 로고
    • Analysis of natural killer cells in patients with aplastic anemia
    • Gascon P, Zoumbos N, Young N. Analysis of natural killer cells in patients with aplastic anemia. Blood. 1986;67:1349-1355.
    • (1986) Blood , vol.67 , pp. 1349-1355
    • Gascon, P.1    Zoumbos, N.2    Young, N.3
  • 5
    • 26844508372 scopus 로고    scopus 로고
    • The granule pathway of programmed cell death
    • Ashton-Rickardt PG. The granule pathway of programmed cell death. Crit Rev Immunol. 2005;25:161-182.
    • (2005) Crit Rev Immunol , vol.25 , pp. 161-182
    • Ashton-Rickardt, P.G.1
  • 6
    • 8544234990 scopus 로고    scopus 로고
    • Recent developments in the transcriptional regulation of cytolytic effector cells
    • Glimcher LH, Townsend MJ, Sullivan BM, Lord GM. Recent developments in the transcriptional regulation of cytolytic effector cells. Nat Rev Immunol. 2004;4:900-911.
    • (2004) Nat Rev Immunol , vol.4 , pp. 900-911
    • Glimcher, L.H.1    Townsend, M.J.2    Sullivan, B.M.3    Lord, G.M.4
  • 8
    • 1442274795 scopus 로고    scopus 로고
    • Pathogenesis of hemophagocytic syndrome (HPS)
    • Larroche C, Mouthon L. Pathogenesis of hemophagocytic syndrome (HPS). Autoimmun Rev. 2004;3:69-75.
    • (2004) Autoimmun Rev , vol.3 , pp. 69-75
    • Larroche, C.1    Mouthon, L.2
  • 9
    • 33845199637 scopus 로고    scopus 로고
    • Perforin-mediated target-cell death and immune homeostasis
    • Voskoboinik I, Smyth MJ, Trapani JA. Perforin-mediated target-cell death and immune homeostasis. Nat Rev Immunol. 2006;6:940-952.
    • (2006) Nat Rev Immunol , vol.6 , pp. 940-952
    • Voskoboinik, I.1    Smyth, M.J.2    Trapani, J.A.3
  • 10
    • 33644876453 scopus 로고    scopus 로고
    • SNP500Cancer: A public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes
    • Packer BR, Yeager M, Burdett L, et al. SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes. Nucleic Acids Res. 2006;34:D617-D621.
    • (2006) Nucleic Acids Res , vol.34
    • Packer, B.R.1    Yeager, M.2    Burdett, L.3
  • 11
    • 0037066430 scopus 로고    scopus 로고
    • A human genome diversity cell line panel [letter]
    • Cann HM, de Toma C, Cazes L et al. A human genome diversity cell line panel [letter]. Science. 2002;296:261-262.
    • (2002) Science , vol.296 , pp. 261-262
    • Cann, H.M.1    de Toma, C.2    Cazes, L.3
  • 12
    • 15944422499 scopus 로고    scopus 로고
    • Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia
    • Yamaguchi H, Calado RT, Ly H, et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med. 2005;352:1413-1424.
    • (2005) N Engl J Med , vol.352 , pp. 1413-1424
    • Yamaguchi, H.1    Calado, R.T.2    Ly, H.3
  • 13
    • 0033520970 scopus 로고    scopus 로고
    • Perforin gene defects in familial hemophagocytic lymphohistiocytosis
    • Stepp SE, Dufourcq-Lagelouse R, Le DF et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286:1957-1959.
    • (1999) Science , vol.286 , pp. 1957-1959
    • Stepp, S.E.1    Dufourcq-Lagelouse, R.2    Le, D.F.3
  • 14
    • 0036095443 scopus 로고    scopus 로고
    • Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members
    • Kogawa K, Lee SM, Villanueva J, et al. Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members. Blood. 2002;99:61-66.
    • (2002) Blood , vol.99 , pp. 61-66
    • Kogawa, K.1    Lee, S.M.2    Villanueva, J.3
  • 15
    • 15944399347 scopus 로고    scopus 로고
    • Perforin and lymphohistiocytic proliferative disorders
    • Katano H, Cohen JI. Perforin and lymphohistiocytic proliferative disorders. Br J Haematol. 2005;128:739-750.
    • (2005) Br J Haematol , vol.128 , pp. 739-750
    • Katano, H.1    Cohen, J.I.2
  • 17
    • 1242292327 scopus 로고    scopus 로고
    • Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis
    • Molleran LS, Villanueva J, Sumegi J, et al. Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. J Med Genet. 2004;41:137-144.
    • (2004) J Med Genet , vol.41 , pp. 137-144
    • Molleran, L.S.1    Villanueva, J.2    Sumegi, J.3
  • 18
    • 20344406945 scopus 로고    scopus 로고
    • A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin
    • Trambas C, Gallo F, Pende D, et al. A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin. Blood. 2005;106:932-937.
    • (2005) Blood , vol.106 , pp. 932-937
    • Trambas, C.1    Gallo, F.2    Pende, D.3
  • 19
    • 4644371832 scopus 로고    scopus 로고
    • A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype [letter]
    • Zur Stadt U, Beutel K, Weber B, et al. A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype [letter]. Blood. 2004;104:1909.
    • (2004) Blood , vol.104 , pp. 1909
    • Zur Stadt, U.1    Beutel, K.2    Weber, B.3
  • 20
    • 19344369831 scopus 로고    scopus 로고
    • A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis
    • Voskoboinik I, Thia MC, Trapani JA. A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. Blood. 2005;105:4700-4706.
    • (2005) Blood , vol.105 , pp. 4700-4706
    • Voskoboinik, I.1    Thia, M.C.2    Trapani, J.A.3
  • 21
    • 0037105371 scopus 로고    scopus 로고
    • Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations
    • Clementi R, Emmi L, Maccario R, et al. Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. Blood. 2002;100:2266-2267.
    • (2002) Blood , vol.100 , pp. 2266-2267
    • Clementi, R.1    Emmi, L.2    Maccario, R.3
  • 22
    • 31044453814 scopus 로고    scopus 로고
    • Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis
    • Risma KA, Frayer RW, Filipovich AH, Sumegi J. Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. J Clin Invest. 2006;116:182-192.
    • (2006) J Clin Invest , vol.116 , pp. 182-192
    • Risma, K.A.1    Frayer, R.W.2    Filipovich, A.H.3    Sumegi, J.4
  • 23
    • 37549025826 scopus 로고    scopus 로고
    • O'Brien MM, Lee-Kim Y, George TI, et al. Precursor B-cell acute lymphoblastic leukemia presenting with hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. Prepublished on July 19, 2006, as DOI 10.1002/pbc.20950.
    • O'Brien MM, Lee-Kim Y, George TI, et al. Precursor B-cell acute lymphoblastic leukemia presenting with hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. Prepublished on July 19, 2006, as DOI 10.1002/pbc.20950.
  • 24
    • 0034486618 scopus 로고    scopus 로고
    • Hemophagocytic syndromes and infection
    • Fisman DN. Hemophagocytic syndromes and infection. Emerg Infect Dis. 2000;6:601-608.
    • (2000) Emerg Infect Dis , vol.6 , pp. 601-608
    • Fisman, D.N.1
  • 25
    • 0021308823 scopus 로고
    • Treatment of severe aplastic anemia with high-dose methylprednisolone and antilymphocyte globulin
    • Marmont AM, Bacigalupo A, Van Lint MT, et al. Treatment of severe aplastic anemia with high-dose methylprednisolone and antilymphocyte globulin. Prog Clin Biol Res. 1984;148:271-287.
    • (1984) Prog Clin Biol Res , vol.148 , pp. 271-287
    • Marmont, A.M.1    Bacigalupo, A.2    Van Lint, M.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.