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Volumn 93, Issue 11, 2008, Pages 1601-1604

Diamond-Blackfan anemia: A ribosomal puzzle

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; RIBOSOME PROTEIN; RIBOSOME PROTEIN S 19; UNCLASSIFIED DRUG;

EID: 55549110774     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.2008.000513     Document Type: Editorial
Times cited : (31)

References (28)
  • 1
    • 50049093522 scopus 로고    scopus 로고
    • Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol 2008; Jul 30. [Epub ahead of print]
    • Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol 2008; Jul 30. [Epub ahead of print]
  • 3
    • 33745063192 scopus 로고    scopus 로고
    • Ribosomes and marrow failure: Coincidental association or molecular paradigm?
    • Liu JM, Ellis SR. Ribosomes and marrow failure: coincidental association or molecular paradigm? Blood 2006;107:4583-8.
    • (2006) Blood , vol.107 , pp. 4583-4588
    • Liu, J.M.1    Ellis, S.R.2
  • 4
    • 38349088899 scopus 로고    scopus 로고
    • Identification of RPS14 as a 5q- syndrome gene by RNA interference screen
    • Ebert BL, Pretz J, Bosco J, Chang CY, Tamayo P, Galili N, et al. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature 2008;451:335-9.
    • (2008) Nature , vol.451 , pp. 335-339
    • Ebert, B.L.1    Pretz, J.2    Bosco, J.3    Chang, C.Y.4    Tamayo, P.5    Galili, N.6
  • 5
    • 50649104789 scopus 로고    scopus 로고
    • Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
    • Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, et al. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood 2008;112:1582-92.
    • (2008) Blood , vol.112 , pp. 1582-1592
    • Farrar, J.E.1    Nater, M.2    Caywood, E.3    McDevitt, M.A.4    Kowalski, J.5    Takemoto, C.M.6
  • 7
    • 34848913619 scopus 로고    scopus 로고
    • Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
    • Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. Hum Mutat 2007;28:1178-82.
    • (2007) Hum Mutat , vol.28 , pp. 1178-1182
    • Cmejla, R.1    Cmejlova, J.2    Handrkova, H.3    Petrak, J.4    Pospisilova, D.5
  • 8
    • 55549099119 scopus 로고    scopus 로고
    • Gazda HT, Sheen MR, Darras N, Shneider H, Sieff CA, Ball SE, et al. Mutations of the genes for Ribosomal Proteins L5 and L11 are common cause of Diamond-Blackfan anemia [ASH Annual Meeting Abstracts]. Blood 2007;110:421.
    • Gazda HT, Sheen MR, Darras N, Shneider H, Sieff CA, Ball SE, et al. Mutations of the genes for Ribosomal Proteins L5 and L11 are common cause of Diamond-Blackfan anemia [ASH Annual Meeting Abstracts]. Blood 2007;110:421.
  • 9
    • 55549145748 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond Blackfan anemia due to RPS19 deficiency
    • Quarello P, Garelli E, Brusco A, Carando A, Pappi P, Barberis M, et al. Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond Blackfan anemia due to RPS19 deficiency. Haematologica 2008;93:1748-50.
    • (2008) Haematologica , vol.93 , pp. 1748-1750
    • Quarello, P.1    Garelli, E.2    Brusco, A.3    Carando, A.4    Pappi, P.5    Barberis, M.6
  • 11
    • 55549092113 scopus 로고    scopus 로고
    • A new database for ribosomal protein genes which are mutated in Diamond-Blackfan anemia
    • Sep 9, Epub ahead of print
    • Boria I, Quarello P, Avondo F, Garelli E, Aspesi A, Carando A, et al. A new database for ribosomal protein genes which are mutated in Diamond-Blackfan anemia. Hum Mutat 2008; Sep 9. [Epub ahead of print].
    • (2008) Hum Mutat
    • Boria, I.1    Quarello, P.2    Avondo, F.3    Garelli, E.4    Aspesi, A.5    Carando, A.6
  • 12
    • 34547742640 scopus 로고    scopus 로고
    • Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome
    • Angelini M, Cannata S, Mercaldo V, Gibello L, Santoro C, Dianzani I, et al. Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. Hum Mol Genet 2007;16:1720-7.
    • (2007) Hum Mol Genet , vol.16 , pp. 1720-1727
    • Angelini, M.1    Cannata, S.2    Mercaldo, V.3    Gibello, L.4    Santoro, C.5    Dianzani, I.6
  • 13
    • 55549121921 scopus 로고    scopus 로고
    • Study of the effects of proteasome inhibitors on ribosomal protein S19 mutants, identified in patients with Diamond-Blackfan anemia
    • Crétien A, Hurtaud C, Moniz H, Proust A, Marie I, Wagner-Ballon O, et al. Study of the effects of proteasome inhibitors on ribosomal protein S19 mutants, identified in patients with Diamond-Blackfan anemia. Haematologica 2008; 93:1627-34.
    • (2008) Haematologica , vol.93 , pp. 1627-1634
    • Crétien, A.1    Hurtaud, C.2    Moniz, H.3    Proust, A.4    Marie, I.5    Wagner-Ballon, O.6
  • 15
    • 34247391127 scopus 로고    scopus 로고
    • Analysis of nucleolar protein dynamics reveals the nuclear degradation of ribosomal proteins
    • Lam YW, Lamond AI, Mann M, Andersen JS. Analysis of nucleolar protein dynamics reveals the nuclear degradation of ribosomal proteins. Curr Biol 2007;17:749-60.
    • (2007) Curr Biol , vol.17 , pp. 749-760
    • Lam, Y.W.1    Lamond, A.I.2    Mann, M.3    Andersen, J.S.4
  • 16
    • 33846867954 scopus 로고    scopus 로고
    • Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits
    • Flygare J, Aspesi A, Bailey JC, Miyake K, Caffrey JM, Karlsson S, et al. Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood 2007;109:980-6.
    • (2007) Blood , vol.109 , pp. 980-986
    • Flygare, J.1    Aspesi, A.2    Bailey, J.C.3    Miyake, K.4    Caffrey, J.M.5    Karlsson, S.6
  • 17
    • 42449089854 scopus 로고    scopus 로고
    • Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder
    • Choesmel V, Fribourg S, Aguissa-Toure AH, Pinaud N, Legrand P, Gazda HT, et al. Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. Hum Mol Genet 2008;17:1253-63.
    • (2008) Hum Mol Genet , vol.17 , pp. 1253-1263
    • Choesmel, V.1    Fribourg, S.2    Aguissa-Toure, A.H.3    Pinaud, N.4    Legrand, P.5    Gazda, H.T.6
  • 18
    • 50649096622 scopus 로고    scopus 로고
    • The role of human ribosomal proteins in the maturation of rRNA and ribosome production
    • Robledo S, Idol RA, Crimmins DL, Ladenson JH, Mason PJ, Bessler M. The role of human ribosomal proteins in the maturation of rRNA and ribosome production. RNA 2008;14:1918-29.
    • (2008) RNA , vol.14 , pp. 1918-1929
    • Robledo, S.1    Idol, R.A.2    Crimmins, D.L.3    Ladenson, J.H.4    Mason, P.J.5    Bessler, M.6
  • 20
    • 30344472966 scopus 로고    scopus 로고
    • Diamond Blackfan anemia: A paradigm for a ribosome-based disease
    • Ellis SR, Massey AT. Diamond Blackfan anemia: A paradigm for a ribosome-based disease. Med Hypotheses 2006; 66:643-8.
    • (2006) Med Hypotheses , vol.66 , pp. 643-648
    • Ellis, S.R.1    Massey, A.T.2
  • 22
    • 55549129584 scopus 로고    scopus 로고
    • Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan Anemia disrupts FLVCR1 expression and function that is critical for erythropoiesis
    • Rey MA, Duffy SP, Brown JK, Kennedy JA, Dick JE, Dror Y, et al. Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan Anemia disrupts FLVCR1 expression and function that is critical for erythropoiesis. Haematologica 2008;93:1617-26.
    • (2008) Haematologica , vol.93 , pp. 1617-1626
    • Rey, M.A.1    Duffy, S.P.2    Brown, J.K.3    Kennedy, J.A.4    Dick, J.E.5    Dror, Y.6
  • 23
    • 38949097546 scopus 로고    scopus 로고
    • A heme export protein is required for red blood cell differentiation and iron homeostasis
    • Keel SB, Doty RT, Yang Z, Quigley JG, Chen J, Knoblaugh S, et al. A heme export protein is required for red blood cell differentiation and iron homeostasis. Science 2008;319:825-8.
    • (2008) Science , vol.319 , pp. 825-828
    • Keel, S.B.1    Doty, R.T.2    Yang, Z.3    Quigley, J.G.4    Chen, J.5    Knoblaugh, S.6
  • 24
    • 53349108470 scopus 로고    scopus 로고
    • Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia
    • Epub ahead of print
    • Uechi T, Nakajima Y, Chakraborty A, Torihara H, Higa S, Kenmochi N. Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia. Hum Mol Genet 2008. [Epub ahead of print]
    • (2008) Hum Mol Genet
    • Uechi, T.1    Nakajima, Y.2    Chakraborty, A.3    Torihara, H.4    Higa, S.5    Kenmochi, N.6
  • 25
    • 57649107153 scopus 로고    scopus 로고
    • Danilova N, Sakamoto KM, Lin S. Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family. Blood 2008; May 30. [Epub ahead of print]
    • Danilova N, Sakamoto KM, Lin S. Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family. Blood 2008; May 30. [Epub ahead of print]
  • 27
    • 33645282549 scopus 로고    scopus 로고
    • Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia
    • Matsson H, Davey EJ, Frojmark AS, Miyake K, Utsugisawa T, Flygare J, et al. Erythropoiesis in the Rps19 disrupted mouse: analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia. Blood Cells Mol Dis 2006;36:259-64.
    • (2006) Blood Cells Mol Dis , vol.36 , pp. 259-264
    • Matsson, H.1    Davey, E.J.2    Frojmark, A.S.3    Miyake, K.4    Utsugisawa, T.5    Flygare, J.6
  • 28
    • 0025935403 scopus 로고
    • In vitro growth and regulation of bone marrow enriched CD34+ hematopoietic progenitors in Diamond-Blackfan anemia
    • Bagnara GP, Zauli G, Vitale L, Rosito P, Vecchi V, Paolucci G, et al. In vitro growth and regulation of bone marrow enriched CD34+ hematopoietic progenitors in Diamond-Blackfan anemia. Blood 1991;78:2203-10.
    • (1991) Blood , vol.78 , pp. 2203-2210
    • Bagnara, G.P.1    Zauli, G.2    Vitale, L.3    Rosito, P.4    Vecchi, V.5    Paolucci, G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.