메뉴 건너뛰기




Volumn 23, Issue 4, 2009, Pages 708-711

The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GENE PRODUCT; PROTEIN SBDS; THYMINE; UNCLASSIFIED DRUG;

EID: 64949131886     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2008.369     Document Type: Article
Times cited : (52)

References (20)
  • 1
    • 27644511287 scopus 로고    scopus 로고
    • Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer 2005; 45: 892-901.
    • Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer 2005; 45: 892-901.
  • 3
    • 33745502895 scopus 로고    scopus 로고
    • Shimamura A. Shwachman-Diamond syndrome. Semin Hematol 2006; 43 178-188.
    • Shimamura A. Shwachman-Diamond syndrome. Semin Hematol 2006; 43 178-188.
  • 4
    • 38949206880 scopus 로고    scopus 로고
    • Hematologically important mutations: Shwachman-Diamond syndrome
    • Costa E, Santos R. Hematologically important mutations: Shwachman-Diamond syndrome. Blood Cells Mol Dis 2008; 40: 183-184.
    • (2008) Blood Cells Mol Dis , vol.40 , pp. 183-184
    • Costa, E.1    Santos, R.2
  • 6
    • 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
  • 8
    • 0033785246 scopus 로고    scopus 로고
    • Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders
    • Maserati E, Minelli A, Olivieri C, Bonvini L, Marchi A, Bozzola M et al. Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. Cancer Genet Cytogenet 2000; 12: 167-171.
    • (2000) Cancer Genet Cytogenet , vol.12 , pp. 167-171
    • Maserati, E.1    Minelli, A.2    Olivieri, C.3    Bonvini, L.4    Marchi, A.5    Bozzola, M.6
  • 9
    • 33644755462 scopus 로고    scopus 로고
    • Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies
    • Maserati E, Minelli A, Pressato B, Valli R, Crescenzi B, Stefanelli M et al. Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes Chromosomes Cancer 2006; 45: 375-382.
    • (2006) Genes Chromosomes Cancer , vol.45 , pp. 375-382
    • Maserati, E.1    Minelli, A.2    Pressato, B.3    Valli, R.4    Crescenzi, B.5    Stefanelli, M.6
  • 10
    • 34247552365 scopus 로고    scopus 로고
    • Monitoring the isochromosome i(7)(q10) in the bone marrow of patients with Shwachman syndrome by real-time quantitative PCR
    • Porta G, Mattarucchi E, Maserati E, Pressato B, Valli R, Morerio C et al. Monitoring the isochromosome i(7)(q10) in the bone marrow of patients with Shwachman syndrome by real-time quantitative PCR. J Pediatr Hematol Oncol 2007; 29: 163-165.
    • (2007) J Pediatr Hematol Oncol , vol.29 , pp. 163-165
    • Porta, G.1    Mattarucchi, E.2    Maserati, E.3    Pressato, B.4    Valli, R.5    Morerio, C.6
  • 11
    • 33745504494 scopus 로고    scopus 로고
    • Identification of novel mutations in patients with Shwachman-Diamond syndrome
    • Nicolis E, Bonizzato A, Assael BM, Cipolli M. Identification of novel mutations in patients with Shwachman-Diamond syndrome. Hum Mutat 2005; 25: 410.
    • (2005) Hum Mutat , vol.25 , pp. 410
    • Nicolis, E.1    Bonizzato, A.2    Assael, B.M.3    Cipolli, M.4
  • 14
    • 64949133052 scopus 로고    scopus 로고
    • Mitelman F, Johansson B, Mertens F (eds). Mitelman Database of Chromosome Aberrations in Cancer 2008 (database on the Internet). Available from: http://cgap.nci.nih.gov/Chromosomes/Mitelman.
    • Mitelman F, Johansson B, Mertens F (eds). Mitelman Database of Chromosome Aberrations in Cancer 2008 (database on the Internet). Available from: http://cgap.nci.nih.gov/Chromosomes/Mitelman.
  • 17
    • 0028075111 scopus 로고    scopus 로고
    • Mertens F, Johansson B, Mitelman F. Isochromosomes in neoplasia. Genes Chromosomes Cancer 1994; 10: 221-230.
    • Mertens F, Johansson B, Mitelman F. Isochromosomes in neoplasia. Genes Chromosomes Cancer 1994; 10: 221-230.
  • 18
    • 33744827681 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome: UK perspective
    • Hall GW, Dale P, Dodge JA. Shwachman-Diamond syndrome: UK perspective. Arch Dis Child 2006; 91: 521-524.
    • (2006) Arch Dis Child , vol.91 , pp. 521-524
    • Hall, G.W.1    Dale, P.2    Dodge, J.A.3
  • 20
    • 0031702803 scopus 로고    scopus 로고
    • Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome
    • Dror Y, Squire J, Durie P, Freedman MH. Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome. Leukemia 1998; 12: 1591-1595.
    • (1998) Leukemia , vol.12 , pp. 1591-1595
    • Dror, Y.1    Squire, J.2    Durie, P.3    Freedman, M.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.