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Volumn 84, Issue 1, 2006, Pages 60-62

Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan

(22)  Taneichi, Hiromichi a   Kanegane, Hirokazu a   Futatani, Takeshi a   Otsubo, Keisuke a   Nomura, Keiko a   Sato, Yuya b   Hama, Asahito c   Kojima, Seiji c   Kohdera, Urara d   Nakano, Takahide d   Hori, Hiroki e   Kawashima, Hisashi f   Inoh, Yoko f   Kamizono, Junji g   Adachi, Naoto h   Osugi, Yuko i   Mizuno, Haruo j   Hotta, Noriko k   Yoneyama, Hiroshi l   Nakashima, Eiji m   more..


Author keywords

Japan; Pancytopenia; SBDS; Shwachman Diamond syndrome

Indexed keywords

GENOMIC DNA; PROTEIN; SBDS PROTEIN, HUMAN;

EID: 33748664608     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1532/IJH97.06043     Document Type: Article
Times cited : (11)

References (14)
  • 1
    • 0000785397 scopus 로고
    • The syndrome of pancreatic insufficiency and bone marrow dysfunction
    • Shwachman H, Diamond LK, Oski FA, Khaw KT. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr. 1964;65:645-663.
    • (1964) J Pediatr , vol.65 , pp. 645-663
    • Shwachman, H.1    Diamond, L.K.2    Oski, F.A.3    Khaw, K.T.4
  • 2
    • 0036042153 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome
    • Dror Y, Freedman MH. Shwachman-Diamond syndrome. Br J Haematol 2002;118:701-713.
    • (2002) Br J Haematol , vol.118 , pp. 701-713
    • Dror, Y.1    Freedman, M.H.2
  • 3
    • 0037229094 scopus 로고    scopus 로고
    • Mutations in SBDS are associated with Shwachman-Diamond syndrome
    • Boocock GR, Morrison JA, Popovic M, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003;33:97-101.
    • (2003) Nat Genet , vol.33 , pp. 97-101
    • Boocock, G.R.1    Morrison, J.A.2    Popovic, M.3
  • 4
    • 1242273630 scopus 로고    scopus 로고
    • Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS
    • Makitie O, Ellis L, Durie PR, et al. Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin Genet. 2004;65:101-112.
    • (2004) Clin Genet , vol.65 , pp. 101-112
    • Makitie, O.1    Ellis, L.2    Durie, P.R.3
  • 5
    • 22044432003 scopus 로고    scopus 로고
    • Hematological abnormalities in Shwachman Diamond syndrome: Lack of genotype-phenotype relationship
    • Kuijpers TW, Alders M, Tool AT, Mellink C, Roos D, Hennekam RC. Hematological abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. Blood. 2005;106:356-361.
    • (2005) Blood , vol.106 , pp. 356-361
    • Kuijpers, T.W.1    Alders, M.2    Tool, A.T.3    Mellink, C.4    Roos, D.5    Hennekam, R.C.6
  • 6
    • 1542375434 scopus 로고    scopus 로고
    • Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome
    • Nakashima E, Mabuchi A, Makita Y, et al. Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. Hum Genet. 2004;114:345-348.
    • (2004) Hum Genet , vol.114 , pp. 345-348
    • Nakashima, E.1    Mabuchi, A.2    Makita, Y.3
  • 7
    • 21244435619 scopus 로고    scopus 로고
    • Genetic analysis of Shwachman-Diamond syndrome: Phenotypic heterogeneity in patients carrying identical SBDS mutations
    • Kawakami T, Mitsui T, Kanai M, et al. Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. Tohoku J Exp Med. 2005;206:253-259.
    • (2005) Tohoku J Exp Med , vol.206 , pp. 253-259
    • Kawakami, T.1    Mitsui, T.2    Kanai, M.3
  • 8
    • 23744472548 scopus 로고    scopus 로고
    • The Shwachman-Diamond SBDS protein localizes to the nucleolus
    • Austin KM, Leary RJ, Shimamura A. The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood. 2005;106:1253-1258.
    • (2005) Blood , vol.106 , pp. 1253-1258
    • Austin, K.M.1    Leary, R.J.2    Shimamura, A.3
  • 9
    • 9444291841 scopus 로고    scopus 로고
    • Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome
    • Woloszynek JR, Rothbaum RJ, Rawls AS, et al. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood. 2004;104:3588-3590.
    • (2004) Blood , vol.104 , pp. 3588-3590
    • Woloszynek, J.R.1    Rothbaum, R.J.2    Rawls, A.S.3
  • 10
    • 21444446063 scopus 로고    scopus 로고
    • The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism
    • Savchenko A, Krogan N, Cort JR, et al. The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem. 2005;280:19213-19220.
    • (2005) J Biol Chem , vol.280 , pp. 19213-19220
    • Savchenko, A.1    Krogan, N.2    Cort, J.R.3
  • 11
    • 21444443081 scopus 로고    scopus 로고
    • Structural and mutational analysis of the SBDS protein family: Insight into the leukemia-associated Shwachman-Diamond syndrome
    • Shammas C, Menne TF, Hilcenko C, et al. Structural and mutational analysis of the SBDS protein family: insight into the leukemia-associated Shwachman-Diamond syndrome. J Biol Chem. 2005;280:19221-19229.
    • (2005) J Biol Chem , vol.280 , pp. 19221-19229
    • Shammas, C.1    Menne, T.F.2    Hilcenko, C.3
  • 12
    • 84977969927 scopus 로고    scopus 로고
    • Characterization of siRNA-mediated SBDS-knockdown cells: Specific hypersensitivity to Fas stimulation
    • [abstract]. Abstract 386
    • Watanabe K, Dror Y. Characterization of siRNA-mediated SBDS-knockdown cells: specific hypersensitivity to Fas stimulation [abstract]. Blood. 2005;106;116a. Abstract 386.
    • (2005) Blood , vol.106
    • Watanabe, K.1    Dror, Y.2
  • 13
    • 0029117616 scopus 로고
    • Shwachman-Diamond syndrome associated with hypogammaglobulinemia and growth hormone deficiency
    • Kornfeld SJ, Kratz J, Diamond F, Day NK, Good RA. Shwachman-Diamond syndrome associated with hypogammaglobulinemia and growth hormone deficiency. J Allergy Clin Immunol 1995;96:247-250.
    • (1995) J Allergy Clin Immunol , vol.96 , pp. 247-250
    • Kornfeld, S.J.1    Kratz, J.2    Diamond, F.3    Day, N.K.4    Good, R.A.5
  • 14
    • 0029055814 scopus 로고
    • Diminished concentrations of insulin-like growth factor 1 in cystic fibrosis
    • Laursen EM, Juul A, Lanng S, et al. Diminished concentrations of insulin-like growth factor 1 in cystic fibrosis. Arch Dis Child. 1995;72:494-497.
    • (1995) Arch Dis Child , vol.72 , pp. 494-497
    • Laursen, E.M.1    Juul, A.2    Lanng, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.