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Volumn 118, Issue 16, 2011, Pages 4300-4301

Translational medicine: Ribosomopathies

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED RNA POLYMERASE; DNA DIRECTED RNA POLYMERASE III; GUANOSINE TRIPHOSPHATASE; PROTEIN; PROTEIN EFL1; PROTEIN EIF6; PROTEIN P53; RIBOSOME DNA; RIBOSOME RNA; SHWACHMAN BODIAN DIAMOND SYNDROME PROTEIN; UNCLASSIFIED DRUG;

EID: 80054839638     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-08-372250     Document Type: Article
Times cited : (15)

References (11)
  • 1
    • 80054836766 scopus 로고    scopus 로고
    • Defective ribosome assembly in Shwachman-Diamond syndrome
    • Wong CC, Traynor D, Basse N, Kay RR, Warren AJ. Defective ribosome assembly in Shwachman-Diamond syndrome. Blood. 2011;118(16):4305-4312.
    • (2011) Blood , vol.118 , Issue.16 , pp. 4305-4312
    • Wong, C.C.1    Traynor, D.2    Basse, N.3    Kay, R.R.4    Warren, A.J.5
  • 2
    • 77951431225 scopus 로고    scopus 로고
    • Ribosomopathies: Human disorders of ribosome dysfunction
    • Narla A, Ebert BL. Ribosomopathies: human disorders of ribosome dysfunction. Blood. 2010;115(16):3196-3205.
    • (2010) Blood , vol.115 , Issue.16 , pp. 3196-3205
    • Narla, A.1    Ebert, B.L.2
  • 4
    • 62649085630 scopus 로고    scopus 로고
    • Shwachman Shwachman-Diamond syndrome: A review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment
    • Burroughs L, Woolfrey A, Shimamura A. Shwachman Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am. 2009;23(2):233-248.
    • (2009) Hematol Oncol Clin North Am , vol.23 , Issue.2 , pp. 233-248
    • Burroughs, L.1    Woolfrey, A.2    Shimamura, A.3
  • 6
    • 79955685955 scopus 로고    scopus 로고
    • Uncoupling ofGTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome
    • Finch AJ, Hilcenko C, Basse N, et al. Uncoupling ofGTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev. 2011;25(9):917-929.
    • (2011) Genes Dev , vol.25 , Issue.9 , pp. 917-929
    • Finch, A.J.1    Hilcenko, C.2    Basse, N.3
  • 7
    • 34548864371 scopus 로고    scopus 로고
    • The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA
    • DOI 10.1182/blood-2007-02-075184
    • Ganapathi KA, Austin KM, Lee CS, et al. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomalRNA. Blood. 2007;110(5):1458-1465. (Pubitemid 47443960)
    • (2007) Blood , vol.110 , Issue.5 , pp. 1458-1465
    • Ganapathi, K.A.1    Austin, K.M.2    Lee, C.-S.3    Dias, A.4    Malsch, M.M.5    Reed, R.6    Shimamura, A.7
  • 8
    • 38349088899 scopus 로고    scopus 로고
    • Identification of RPS14 as a 5q-syndrome gene byRNA interference screen
    • Ebert BL, Pretz J, Bosco J, et al. Identification of RPS14 as a 5q-syndrome gene byRNA interference screen. Nature. 2008;451(7176):335-339.
    • (2008) Nature , vol.451 , Issue.7176 , pp. 335-339
    • Ebert, B.L.1    Pretz, J.2    Bosco, J.3
  • 9
    • 79953117045 scopus 로고    scopus 로고
    • Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells
    • Dutt S, Narla A, Lin K, et al. Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood. 2011;117(9):2567-2576.
    • (2011) Blood , vol.117 , Issue.9 , pp. 2567-2576
    • Dutt, S.1    Narla, A.2    Lin, K.3
  • 11
    • 78651238814 scopus 로고    scopus 로고
    • Mutations in genes encoding subunits ofRNApolymerases I and III cause Treacher Collins syndrome
    • Dauwerse JG, Dixon J, Seland S, et al. Mutations in genes encoding subunits ofRNApolymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011;43(1): 20-22.
    • (2011) Nat Genet , vol.43 , Issue.1 , pp. 20-22
    • Dauwerse, J.G.1    Dixon, J.2    Seland, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.