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Volumn 2010, Issue , 2010, Pages

Novel heterogenous CHS1 mutations identified in five Japanese patients with Chediak-Higashi syndrome

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EID: 84908335960     PISSN: 16879627     EISSN: 16879635     Source Type: Journal    
DOI: 10.1155/2010/464671     Document Type: Article
Times cited : (10)

References (21)
  • 1
    • 0035990979 scopus 로고    scopus 로고
    • Chediak-Higashi syndrome: A clinical and molecular view of a rare lysosomal storage disorder
    • DOI 10.2174/1566524023362339
    • D. M. Ward, S. L. Shiflett, and J. Kaplan, "Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder," Current Molecular Medicine, vol. 2, no. 5, pp. 469-477, 2002. (Pubitemid 34760029)
    • (2002) Current Molecular Medicine , vol.2 , Issue.5 , pp. 469-477
    • Ward, D.M.1    Shiflett, S.L.2    Kaplan, J.3
  • 2
    • 0035989918 scopus 로고    scopus 로고
    • Chediak-Higashi Syndrome: A rare disorder of lysosomes and lysosome related organelles
    • DOI 10.1034/j.1600-0749.2002.02038.x
    • S. L. Shiflett, J. Kaplan, and D. M. Ward, "Chediak-Higashi syndrome: a rare disorder of lysosomes and lysosome related organelles," Pigment Cell Research, vol. 15, no. 4, pp. 251-257, 2002. (Pubitemid 34829529)
    • (2002) Pigment Cell Research , vol.15 , Issue.4 , pp. 251-257
    • Shiflett, S.L.1    Kaplan, J.2    Ward, D.M.3
  • 4
    • 0024380506 scopus 로고
    • The thiol proteinase inhibitors improve the abnormal rapid down-regulation of protein kinase C and the impaired natural killer cell activity in (Chediak-Higashi syndrome) beige mouse
    • DOI 10.1016/0006-291X(89)92451-0
    • M. Ito, A. Sato, F. Tanabe, E. Ishida, Y. Takami, and S. Shigeta, "The thiol proteinase inhibitors improve the abnormal rapid down-regulation of protein kinase C and the impaired natural killer cell activity in (Chediak-Higashi syndrome) beigemouse," Biochemical and Biophysical Research Communications, vol. 160, no. 2, pp. 433-440, 1989. (Pubitemid 19140569)
    • (1989) Biochemical and Biophysical Research Communications , vol.160 , Issue.2 , pp. 433-440
    • Ito, M.1    Sato, A.2    Tanabe, F.3    Ishida, E.4    Takami, Y.5    Shigeta, S.6
  • 5
    • 0033844501 scopus 로고    scopus 로고
    • Abnormal down-regulation of PKC is responsible for giant granule formation in fibroblasts from CHS (beige) mice - A thiol proteinase inhibitor, E-64-d, prevents giant granule formation in beige fibroblasts
    • F. Tanabe, S. H. Cui, and M. Ito, "Abnormal down-regulation of PKC is responsible for giant granule formation in fibroblasts from CHS (beige) mice - a thiol proteinase inhibitor, E-64-d, prevents giant granule formation in beige fibroblasts," Journal of Leukocyte Biology, vol. 67, no. 5, pp. 749-755, 2000.
    • (2000) Journal of Leukocyte Biology , vol.67 , Issue.5 , pp. 749-755
    • Tanabe, F.1    Cui, S.H.2    Ito, M.3
  • 6
    • 0025049795 scopus 로고
    • Thiol proteinase inhibitors reverse the increased protein kinase C down-regulation and concanavalin A cap formation in polymorphonuclear leukocytes from Chediak-Higashi syndrome (beige) mouse
    • A. Sato, F. Tanabe, M. Ito, E. Ishida, and S. Shigeta, "Thiol proteinase inhibitors reverse the increased protein kinase C down-regulation and concanavalin A cap formation in polymorphonuclear leukocytes from Chediak-Higashi syndrome (beige) mouse," Journal of Leukocyte Biology, vol. 48, no. 5, pp. 377-381, 1990. (Pubitemid 20378787)
    • (1990) Journal of Leukocyte Biology , vol.48 , Issue.5 , pp. 377-381
    • Sato, A.1    Tanabe, F.2    Ito, M.3    Ishida, E.4    Shigeta, S.5
  • 7
    • 0034881566 scopus 로고    scopus 로고
    • A thiol proteinase inhibitor, E-64-d, corrects the abnormalities in concanavalin a cap formation and the lysosomal enzyme activity in leucocytes from patients with Chediak-Higashi syndrome by reversing the down-regulated protein kinase C activity
    • DOI 10.1046/j.1365-2249.2001.01598.x
    • S. H. Cui, F. Tanabe, H. Terunuma et al., "A thiol proteinase inhibitor, E-64-d, corrects the abnormalities in concanavalin A cap formation and the lysosomal enzyme activity in leucocytes from patients with Chediak-Higashi syndrome by reversing the down-regulated protein kinase C activity," Clinical and Experimental Immunology, vol. 125, no. 2, pp. 283-290, 2001. (Pubitemid 32758440)
    • (2001) Clinical and Experimental Immunology , vol.125 , Issue.2 , pp. 283-290
    • Cui, S.-H.1    Tanabe, F.2    Terunuma, H.3    Iwatani, Y.4    Nunoi, H.5    Agematsu, K.6    Komiyama, A.7    Nomura, A.8    Hara, T.9    Onodera, T.10    Iwata, T.11    Ito, M.12
  • 8
    • 34247891585 scopus 로고    scopus 로고
    • Effect of a thiol proteinase inhibitor, E-64-d, on susceptibility to infection with Staphylococcus aureus in Chediak-Higashi syndrome (beige) mice
    • DOI 10.1016/j.intimp.2007.03.004, PII S1567576907000847
    • M. Morimoto, F. Tanabe, H. Kasai, and M. Ito, "Effect of a thiol proteinase inhibitor, E-64-d, on susceptibility to infection with Staphylococcus aureus in Chediak-Higashi syndrome (beige) mice," International Immunopharmacology, vol. 7, no. 7, pp. 973-980, 2007. (Pubitemid 46702847)
    • (2007) International Immunopharmacology , vol.7 , Issue.7 , pp. 973-980
    • Morimoto, M.1    Tanabe, F.2    Kasai, H.3    Ito, M.4
  • 9
    • 60249100731 scopus 로고    scopus 로고
    • Improvement of deficient natural killer activity and delayed bactericidal activity by a thiol proteinase inhibitor, E-64-d, in leukocytes from Chediak-Higashi syndrome patients in vitro
    • F. Tanabe, H. Kasai, L. He et al., "Improvement of deficient natural killer activity and delayed bactericidal activity by a thiol proteinase inhibitor, E-64-d, in leukocytes from Chediak-Higashi syndrome patients in vitro," International Immunopharmacology, vol. 9, no. 3, pp. 366-370, 2009.
    • (2009) International Immunopharmacology , vol.9 , Issue.3 , pp. 366-370
    • Tanabe, F.1    Kasai, H.2    He, L.3
  • 11
    • 15844397403 scopus 로고    scopus 로고
    • Identification of the homologous beige and Chediak-Higashi syndrome genes
    • M. D. F. S. Barbosa, Q. A. Nguyen, V. T. Tchernev et al., "Identification of the homologous beige and Chediak-Higashi syndrome genes," Nature, vol. 382, no. 6588, pp. 262-265, 1996.
    • (1996) Nature , vol.382 , Issue.6588 , pp. 262-265
    • Barbosa, M.D.F.S.1    Nguyen, Q.A.2    Tchernev, V.T.3
  • 12
    • 0030293556 scopus 로고    scopus 로고
    • Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome
    • D. L. Nagle, M. A. Karim, E. A. Woolf et al., "Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome," Nature Genetics, vol. 14, no. 3, pp. 307-311, 1996.
    • (1996) Nature Genetics , vol.14 , Issue.3 , pp. 307-311
    • Nagle, D.L.1    Karim, M.A.2    Woolf, E.A.3
  • 13
    • 8544220356 scopus 로고    scopus 로고
    • Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse
    • M. D. F. S. Barbosa, F. J. Barrat, V. T. Tchernev et al., "Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse," Human Molecular Genetics, vol. 6, no. 7, pp. 1091-1098, 1997.
    • (1997) Human Molecular Genetics , vol.6 , Issue.7 , pp. 1091-1098
    • Barbosa, M.D.F.S.1    Barrat, F.J.2    Tchernev, V.T.3
  • 14
    • 0037119998 scopus 로고    scopus 로고
    • Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain
    • G. Jogl, Y. Shen, D. Gebauer et al., "Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain," EMBO Journal, vol. 21, no. 18, pp. 4785-4795, 2002.
    • (2002) EMBO Journal , vol.21 , Issue.18 , pp. 4785-4795
    • Jogl, G.1    Shen, Y.2    Gebauer, D.3
  • 15
    • 0030693642 scopus 로고    scopus 로고
    • The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein
    • DOI 10.1074/jbc.272.47.29790
    • C. M. Perou, J. D. Leslie, W. Green, H. Liangtao Li, D. M. Ward, and J. Kaplan, "The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein," Journal of Biological Chemistry, vol. 272, no. 47, pp. 29790-29794, 1997. (Pubitemid 27508075)
    • (1997) Journal of Biological Chemistry , vol.272 , Issue.47 , pp. 29790-29794
    • Perou, C.M.1    Leslie, J.D.2    Green, W.3    Liangtao, L.H.4    Ward, D.M.5    Kaplan, J.6
  • 16
    • 0038824131 scopus 로고    scopus 로고
    • Use of expression constructs to dissect the functional domains of the CHS/beige protein: Identification of multiple phenotypes
    • DOI 10.1034/j.1600-0854.2003.00093.x
    • D. M. Ward, S. L. Shiflett, D. Huynh, M. B. Vaughn, G. Prestwich, and J. Kaplan, "Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes," Traffic, vol. 4, no. 6, pp. 403-415, 2003. (Pubitemid 36656488)
    • (2003) Traffic , vol.4 , Issue.6 , pp. 403-415
    • Ward, D.M.1    Shiflett, S.L.2    Huynh, D.3    Vaughn, M.B.4    Prestwich, G.5    Kaplan, J.6
  • 17
    • 18244405827 scopus 로고    scopus 로고
    • Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome
    • M.A. Karim, K. Suzuki, and F. Fukai et al., "Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome," American Journal of Medical Genetics, vol. 108, no. 1, pp. 16-22, 2002.
    • (2002) American Journal of Medical Genetics , vol.108 , Issue.1 , pp. 16-22
    • Karim, M.A.1    Suzuki, K.2    Fukai, F.3
  • 20
    • 84883302509 scopus 로고    scopus 로고
    • Two novel mutations identified in an African-American child with Chediak-Higashi syndrome
    • Article ID 967535
    • K. Morrone, Y. Wang, M. Huizing et al., "Two novel mutations identified in an African-American child with Chediak-Higashi syndrome," Case Reports in Medicine, vol. 2010, Article ID 967535, 4 pages, 2010.
    • (2010) Case Reports in Medicine , vol.2010 , pp. 4
    • Morrone, K.1    Wang, Y.2    Huizing, M.3
  • 21
    • 77952770251 scopus 로고    scopus 로고
    • Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome
    • I. Manoli, G. Golas, W. Westbroek et al., "Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome," American Journal of Medical Genetics A, vol. 152, no. 6, pp. 1474-1483, 2010.
    • (2010) American Journal of Medical Genetics A , vol.152 , Issue.6 , pp. 1474-1483
    • Manoli, I.1    Golas, G.2    Westbroek, W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.