-
1
-
-
50049093522
-
-
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]
-
-
-
-
2
-
-
0032907438
-
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
-
Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet 1999;21:169-75.
-
(1999)
Nat Genet
, vol.21
, pp. 169-175
-
-
Draptchinskaia, N.1
Gustavsson, P.2
Andersson, B.3
Pettersson, M.4
Willig, T.N.5
Dianzani, I.6
-
3
-
-
33745063192
-
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
-
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
-
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
-
6
-
-
33845303558
-
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia
-
Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, et al. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet 2006;79:1110-8.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 1110-1118
-
-
Gazda, H.T.1
Grabowska, A.2
Merida-Long, L.B.3
Latawiec, E.4
Schneider, H.E.5
Lipton, J.M.6
-
7
-
-
34848913619
-
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
-
-
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
-
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
-
10
-
-
46749134457
-
RPS19 mutations in patients with Diamond-Blackfan anemia
-
Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, et al. RPS19 mutations in patients with Diamond-Blackfan anemia. Hum Mutat 2008;29:911-20.
-
(2008)
Hum Mutat
, vol.29
, pp. 911-920
-
-
Campagnoli, M.F.1
Ramenghi, U.2
Armiraglio, M.3
Quarello, P.4
Garelli, E.5
Carando, A.6
-
11
-
-
55549092113
-
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
-
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
-
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
-
14
-
-
34848833327
-
Molecular basis of Diamond-Blackfan anemia: Structure and function analysis of RPS19
-
Gregory LA, Aguissa-Toure AH, Pinaud N, Legrand P, Gleizes PE, Fribourg S. Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19. Nucleic Acids Res 2007;35:5913-21.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 5913-5921
-
-
Gregory, L.A.1
Aguissa-Toure, A.H.2
Pinaud, N.3
Legrand, P.4
Gleizes, P.E.5
Fribourg, S.6
-
15
-
-
34247391127
-
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
-
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
-
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
-
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
-
19
-
-
33750939777
-
Translational efficiency in patients with Diamond-Blackfan anemia
-
Cmejlova J, Dolezalova L, Pospisilova D, Petrtylova K, Petrak J, Cmejla R. Translational efficiency in patients with Diamond-Blackfan anemia. Haematologica 2006;91:1456-64.
-
(2006)
Haematologica
, vol.91
, pp. 1456-1464
-
-
Cmejlova, J.1
Dolezalova, L.2
Pospisilova, D.3
Petrtylova, K.4
Petrak, J.5
Cmejla, R.6
-
20
-
-
30344472966
-
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
-
21
-
-
34147152899
-
Analysis of the ribosomal protein S19 interactome
-
Orrù S, Aspesi A, Armiraglio M, Caterino M, Loreni F, Ruoppolo M, et al. Analysis of the ribosomal protein S19 interactome. Mol Cell Proteomics 2007;6:382-93.
-
(2007)
Mol Cell Proteomics
, vol.6
, pp. 382-393
-
-
Orrù, S.1
Aspesi, A.2
Armiraglio, M.3
Caterino, M.4
Loreni, F.5
Ruoppolo, M.6
-
22
-
-
55549129584
-
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
-
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
-
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
-
-
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]
-
-
-
-
26
-
-
48249117726
-
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects
-
McGowan KA, Li JZ, Park CY, Beaudry V, Tabor HK, Sabnis AJ, et al. Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nat Genet 2008;40:963-70.
-
(2008)
Nat Genet
, vol.40
, pp. 963-970
-
-
McGowan, K.A.1
Li, J.Z.2
Park, C.Y.3
Beaudry, V.4
Tabor, H.K.5
Sabnis, A.J.6
-
27
-
-
33645282549
-
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
-
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
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