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Volumn 50, Issue 11, 2005, Pages 600-603

Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people

Author keywords

Cytotoxicity; Familial hemophagocytic lymphohistiocytosis; Infant; Japan; SNAP23; Syntaxin 11

Indexed keywords

CYCLOSPORIN A; CYTOTOXIC AGENT; ETOPOSIDE; SNARE PROTEIN; STEROID; SYNAPTOSOMAL ASSOCIATED PROTEIN 23; SYNTAXIN; SYNTAXIN 11; UNCLASSIFIED DRUG;

EID: 27944452641     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0293-1     Document Type: Article
Times cited : (18)

References (18)
  • 2
    • 10744224641 scopus 로고    scopus 로고
    • Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)
    • Feldmann J, Callebaut I, Raposo G et al (2003) Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell 115:461-473
    • (2003) Cell , vol.115 , pp. 461-473
    • Feldmann, J.1    Callebaut, I.2    Raposo, G.3
  • 3
    • 0026065540 scopus 로고
    • Diagnostic guidelines for hemophagocytic lymphohistiocytosis
    • Henter J, Elinder G, Ost A (1991) Diagnostic guidelines for hemophagocytic lymphohistiocytosis. Sem Oncol 18:29-33
    • (1991) Sem Oncol , vol.18 , pp. 29-33
    • Henter, J.1    Elinder, G.2    Ost, A.3
  • 4
    • 0031954306 scopus 로고    scopus 로고
    • Clinical and epidemiologic studies of familial hemophagocytic lymphohistiocytosis in Japan
    • Ishii E, Ohga S, Tanimura M et al (1998) Clinical and epidemiologic studies of familial hemophagocytic lymphohistiocytosis in Japan. Med Pediatr Oncol 30:276-283
    • (1998) Med Pediatr Oncol , vol.30 , pp. 276-283
    • Ishii, E.1    Ohga, S.2    Tanimura, M.3
  • 5
    • 20944449435 scopus 로고    scopus 로고
    • Genetic subtypes of familial hemophagocytic lymphohistiocytosis: Correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions
    • Ishii E, Ueda I, Shirakawa R et al (2005) Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions. Blood 105:3442-3448
    • (2005) Blood , vol.105 , pp. 3442-3448
    • Ishii, E.1    Ueda, I.2    Shirakawa, R.3
  • 6
    • 1242292327 scopus 로고    scopus 로고
    • Characterization of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis
    • Molleran Lee S, Villanueva J, Sumegi J et al (2004) Characterization of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. J Med Genet 41:137-144
    • (2004) J Med Genet , vol.41 , pp. 137-144
    • Molleran Lee, S.1    Villanueva, J.2    Sumegi, J.3
  • 7
    • 0037108557 scopus 로고    scopus 로고
    • Hemophagocytic lymphohistiocytosis is associated with deficiencies of cellular cytosis but normal expression of transcripts relevant to killer-cell-induced apoptosis
    • Schneider EM, Lorenz I, Muller-Rosenberger M, Steinbach G, Kron M, Janka-Schwarb GE (2002) Hemophagocytic lymphohistiocytosis is associated with deficiencies of cellular cytosis but normal expression of transcripts relevant to killer-cell-induced apoptosis. Blood 100:2891-2898
    • (2002) Blood , vol.100 , pp. 2891-2898
    • Schneider, E.M.1    Lorenz, I.2    Muller-Rosenberger, M.3    Steinbach, G.4    Kron, M.5    Janka-Schwarb, G.E.6
  • 8
    • 0033520970 scopus 로고    scopus 로고
    • Perforin gene defects in familial hemophagocytic lymphohistiocytosis
    • Stepp SE, Dufourcq-Lagelouse R, Le Deist F et al (1999) Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 286:1957-1959
    • (1999) Science , vol.286 , pp. 1957-1959
    • Stepp, S.E.1    Dufourcq-Lagelouse, R.2    Le Deist, F.3
  • 9
    • 3042793578 scopus 로고    scopus 로고
    • Linking albinism and immunity: The secrets of secretory lysosomes
    • Stinchcombe J, Bossi G, Griffiths GM (2004) Linking albinism and immunity: the secrets of secretory lysosomes. Science 305:55-59
    • (2004) Science , vol.305 , pp. 55-59
    • Stinchcombe, J.1    Bossi, G.2    Griffiths, G.M.3
  • 10
    • 0036181273 scopus 로고    scopus 로고
    • Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan
    • Suga N, Takada H, Ohga S et al (2002) Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan. Br J Haematol 116:346-349
    • (2002) Br J Haematol , vol.116 , pp. 346-349
    • Suga, N.1    Takada, H.2    Ohga, S.3
  • 11
    • 0000757670 scopus 로고    scopus 로고
    • Syntaxin 11: A member of the syntaxin family without a carboxyl terminal transmembrane domain
    • Tang BL, Low DY, Hong W (1998) Syntaxin 11: a member of the syntaxin family without a carboxyl terminal transmembrane domain. Biochem Biophys Res Commun 245:627-632
    • (1998) Biochem Biophys Res Commun , vol.245 , pp. 627-632
    • Tang, B.L.1    Low, D.Y.2    Hong, W.3
  • 12
    • 27944459494 scopus 로고    scopus 로고
    • Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL)
    • in press
    • Ueda I, Ishii E, Morimoto A, Ohga S, Sako M, Imashuku S (2005) Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL). Pediatr Blood Cancer (in press)
    • (2005) Pediatr Blood Cancer
    • Ueda, I.1    Ishii, E.2    Morimoto, A.3    Ohga, S.4    Sako, M.5    Imashuku, S.6
  • 13
    • 0038692336 scopus 로고    scopus 로고
    • Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan
    • Ueda I, Morimoto A, Inaba T et al (2003) Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan. Br J Haematol 121:503-510
    • (2003) Br J Haematol , vol.121 , pp. 503-510
    • Ueda, I.1    Morimoto, A.2    Inaba, T.3
  • 14
    • 0032925888 scopus 로고    scopus 로고
    • Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network
    • Valdez AC, Cabaniols JP, Brown MJ, Roche PA (1999) Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network. J Cell Sci 112:845-854
    • (1999) J Cell Sci , vol.112 , pp. 845-854
    • Valdez, A.C.1    Cabaniols, J.P.2    Brown, M.J.3    Roche, P.A.4
  • 15
    • 6344249090 scopus 로고    scopus 로고
    • Identification of novel MUNC13-4 mutations in familial hemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes
    • Yamamoto K, Ishii E, Sako M, et al (2004) Identification of novel MUNC13-4 mutations in familial hemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes. J Med Genet 41:763-767
    • (2004) J Med Genet , vol.41 , pp. 763-767
    • Yamamoto, K.1    Ishii, E.2    Sako, M.3
  • 16
    • 0037442238 scopus 로고    scopus 로고
    • + T lymphocytes: Analysis using the combination of hereditary perforin-deficient effector cells and Fas-deficient target cells
    • + T lymphocytes: analysis using the combination of hereditary perforin-deficient effector cells and Fas-deficient target cells. J Immunol 170:2205-2213
    • (2003) J Immunol , vol.170 , pp. 2205-2213
    • Yanai, F.1    Ishii, E.2    Kojima, K.3
  • 17
    • 33646479183 scopus 로고    scopus 로고
    • UNC13D and PRF1 mutations in childhood patients with hemophagocytic lymphohistiocytosis
    • Abstract
    • zur Stadt U, Beutel K, Oyen F et al (2004) UNC13D and PRF1 mutations in childhood patients with hemophagocytic lymphohistiocytosis. Blood 104:375a-376a (Abstract)
    • (2004) Blood , vol.104
    • Zur Stadt, U.1    Beutel, K.2    Oyen, F.3
  • 18
    • 20144363940 scopus 로고    scopus 로고
    • Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
    • zur Stadt U, Schmidt S, Kasper B et al (2005) Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet 14:827-834
    • (2005) Hum Mol Genet , vol.14 , pp. 827-834
    • Zur Stadt, U.1    Schmidt, S.2    Kasper, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.