-
2
-
-
0001033529
-
Anaemia of infancy and early childhood
-
Josephs HW. Anaemia of infancy and early childhood. Medicine 1936;15:307-451.
-
(1936)
Medicine
, vol.15
, pp. 307-451
-
-
Josephs, H.W.1
-
3
-
-
0032723176
-
Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients
-
Willig TN, Niemeyer C, Leblanc T, Tiemann C, Robert A, Budde J, et al. Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. Pediatr Res 1999;46:553-61.
-
(1999)
Pediatr Res
, vol.46
, pp. 553-561
-
-
Willig, T.N.1
Niemeyer, C.2
Leblanc, T.3
Tiemann, C.4
Robert, A.5
Budde, J.6
-
4
-
-
0025115303
-
Immunoelectron microscopic studies on the location of ribosomal proteins on the surface of the 40S ribosomal subunit from rat liver
-
Lutsch G, Stahl J, Kargel H, Noll F, Bielka H. Immunoelectron microscopic studies on the location of ribosomal proteins on the surface of the 40S ribosomal subunit from rat liver. Eur J Cell Biol 1990;51:140-50.
-
(1990)
Eur J Cell Biol
, vol.51
, pp. 140-150
-
-
Lutsch, G.1
Stahl, J.2
Kargel, H.3
Noll, F.4
Bielka, H.5
-
5
-
-
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
-
6
-
-
33845303558
-
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia
-
Gazda H, 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.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 Mutation 2007;28:1178-82.
-
(2007)
Hum Mutation
, vol.28
, pp. 1178-1182
-
-
Cmejla, R.1
Cmejlova, J.2
Handrkova, H.3
Petrak, J.4
Pospisilova, D.5
-
8
-
-
55549135911
-
-
Farrar J, Nater M, Caywood E, et al. A large ribosomal subunit protein abnormalitity in Diamond-Blackfan anemia (DBA). Blood (ASH annual meeting abstracts) 2007; 110 [abstract].
-
Farrar J, Nater M, Caywood E, et al. A large ribosomal subunit protein abnormalitity in Diamond-Blackfan anemia (DBA). Blood (ASH annual meeting abstracts) 2007; 110 [abstract].
-
-
-
-
9
-
-
55549130149
-
-
Gazda HT, Sheen MR, Darras N, et al. Mutations of the genes for ribosomal proteins L5 and L11 are a common cause of Diamond-Blackfan anemia. Blood (ASH annual meeting abstracts). 2007;110 [abstract].
-
Gazda HT, Sheen MR, Darras N, et al. Mutations of the genes for ribosomal proteins L5 and L11 are a common cause of Diamond-Blackfan anemia. Blood (ASH annual meeting abstracts). 2007;110 [abstract].
-
-
-
-
10
-
-
13044266374
-
Mutations in ribosomal protein S19 gene and Diamond-Blackfan anemia: Wide variations in phenotypic expression
-
Willig TN, Draptchinskaia N, Dianzani I, Ball S, Niemeyer C, Ramenghi U, et al. Mutations in ribosomal protein S19 gene and Diamond-Blackfan anemia: wide variations in phenotypic expression. Blood 1999;94:4294-306.
-
(1999)
Blood
, vol.94
, pp. 4294-4306
-
-
Willig, T.N.1
Draptchinskaia, N.2
Dianzani, I.3
Ball, S.4
Niemeyer, C.5
Ramenghi, U.6
-
11
-
-
0029737830
-
Diamond-Blackfan anaemia in the U.K.: Analysis of 80 cases from a 20-year birth cohort
-
Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC. Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. Br J Haematol 1996;94:645-53.
-
(1996)
Br J Haematol
, vol.94
, pp. 645-653
-
-
Ball, S.E.1
McGuckin, C.P.2
Jenkins, G.3
Gordon-Smith, E.C.4
-
12
-
-
0033868256
-
Ribosomal protein S19 gene mutations in patients with Diamond-Blackfan anemia and identification of ribosomal protein S19 pseudogenes
-
Cmejla R, Blafkova J, Stopka T, Zavadil J, Pospisilova D, Mihal V, et al. Ribosomal protein S19 gene mutations in patients with Diamond-Blackfan anemia and identification of ribosomal protein S19 pseudogenes. Blood Cells Mol Dis 2000;26:124-32.
-
(2000)
Blood Cells Mol Dis
, vol.26
, pp. 124-132
-
-
Cmejla, R.1
Blafkova, J.2
Stopka, T.3
Zavadil, J.4
Pospisilova, D.5
Mihal, V.6
-
13
-
-
1942486326
-
Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation
-
Matsson H, Davey E, Draptchinskaia N, Hamaguchi I, Ooka A, Levéen P, et al. Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Mol Cell Biol 2004; 24:4032-7.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 4032-4037
-
-
Matsson, H.1
Davey, E.2
Draptchinskaia, N.3
Hamaguchi, I.4
Ooka, A.5
Levéen, P.6
-
14
-
-
20444363463
-
Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia
-
Flygare J, Kiefer T, Miyake K, Utsugisawa T, Hamaguchi I, Da Costa L, et al. Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia. Blood 2005;105:4627-34.
-
(2005)
Blood
, vol.105
, pp. 4627-4634
-
-
Flygare, J.1
Kiefer, T.2
Miyake, K.3
Utsugisawa, T.4
Hamaguchi, I.5
Da Costa, L.6
-
15
-
-
33846873892
-
Impaired ribosome biogenesis in Diamond-Blackfan anemia
-
Choesmel V, Bacqueville D, Rouquette J, Noaillac-Depeyre J, Fribourg S, Crétien A, et al. Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood 2007;109:1275-83.
-
(2007)
Blood
, vol.109
, pp. 1275-1283
-
-
Choesmel, V.1
Bacqueville, D.2
Rouquette, J.3
Noaillac-Depeyre, J.4
Fribourg, S.5
Crétien, A.6
-
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
-
-
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
-
18
-
-
33644690901
-
Specific role for yeast homologs of the Diamond Blackfan anemia-associated Rps19 protein in ribosome synthesis
-
Léger-Silvestre I, Caffrey JM, Dawaliby R, Alvarez-Arias DA, Gas N, Bertolone SJ, et al. Specific role for yeast homologs of the Diamond Blackfan anemia-associated Rps19 protein in ribosome synthesis. J Bio Chem 2005;280:38177-85.
-
(2005)
J Bio Chem
, vol.280
, pp. 38177-38185
-
-
Léger-Silvestre, I.1
Caffrey, J.M.2
Dawaliby, R.3
Alvarez-Arias, D.A.4
Gas, N.5
Bertolone, S.J.6
-
19
-
-
0038383284
-
Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in two Diamond Blackfan anemia patients: Potential insights into pathophysiology
-
Da Costa L, Tchernia G, Gascard P, Lo A, Meerpohl J, Niemeyer C, et al. Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in two Diamond Blackfan anemia patients: potential insights into pathophysiology. Blood 2003;101:5039-45.
-
(2003)
Blood
, vol.101
, pp. 5039-5045
-
-
Da Costa, L.1
Tchernia, G.2
Gascard, P.3
Lo, A.4
Meerpohl, J.5
Niemeyer, C.6
-
20
-
-
30544439063
-
Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells
-
Rouquette J, Choesmel V, Gleizes PE. Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells. Embo J 2005;24:2862-72.
-
(2005)
Embo J
, vol.24
, pp. 2862-2872
-
-
Rouquette, J.1
Choesmel, V.2
Gleizes, P.E.3
-
21
-
-
24344469024
-
The natural history of severe anemia in cartilage-hair hypoplasia
-
Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, et al. The natural history of severe anemia in cartilage-hair hypoplasia. Am J Med Genet 2005;138A:35-40.
-
(2005)
Am J Med Genet
, vol.138 A
, pp. 35-40
-
-
Williams, M.S.1
Ettinger, R.S.2
Hermanns, P.3
Lee, B.4
Carlsson, G.5
Taskinen, M.6
-
22
-
-
17744393618
-
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia
-
Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, et al. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell 2001;104:195-203.
-
(2001)
Cell
, vol.104
, pp. 195-203
-
-
Ridanpää, M.1
van Eenennaam, H.2
Pelin, K.3
Chadwick, R.4
Johnson, C.5
Yuan, B.6
-
23
-
-
0042319208
-
The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases
-
Ridanpää M, Jain P, Mckusick VA, Francomano CA, Kaitila I. The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases. Am J Med Genet 2003;121C:81-3.
-
(2003)
Am J Med Genet
, vol.121 C
, pp. 81-83
-
-
Ridanpää, M.1
Jain, P.2
Mckusick, V.A.3
Francomano, C.A.4
Kaitila, I.5
-
24
-
-
24344445165
-
Analysis of RPS19 in patients with cartilagehair hypoplasia and severe anemia: Preliminary results
-
Williams MS, Hermanns P. Analysis of RPS19 in patients with cartilagehair hypoplasia and severe anemia: preliminary results. Am J Med Genet 2005;138A:66-7.
-
(2005)
Am J Med Genet
, vol.138 A
, pp. 66-67
-
-
Williams, M.S.1
Hermanns, P.2
-
25
-
-
0031799895
-
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
-
Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998;19:32-8.
-
(1998)
Nat Genet
, vol.19
, pp. 32-38
-
-
Heiss, N.S.1
Knight, S.W.2
Vulliamy, T.J.3
Klauck, S.M.4
Wiemann, S.5
Mason, P.J.6
-
26
-
-
0031745970
-
Dyskeratosis and ribosomal rebellion
-
Luzzatto L, Karadimitris A. Dyskeratosis and ribosomal rebellion. Nat Genet 1998;19:6-7.
-
(1998)
Nat Genet
, vol.19
, pp. 6-7
-
-
Luzzatto, L.1
Karadimitris, A.2
-
27
-
-
9444291841
-
Mutations in SBDS gene are present in most patients with Shwachman-Diamond syndrome
-
Woloszynek JR, Rothbaum RJ, Rawls AS. Mutations in SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood 2004;104:3588-90.
-
(2004)
Blood
, vol.104
, pp. 3588-3590
-
-
Woloszynek, J.R.1
Rothbaum, R.J.2
Rawls, A.S.3
-
28
-
-
23744472548
-
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;106:1253-8.
-
(2005)
Blood
, vol.106
, pp. 1253-1258
-
-
Austin, K.M.1
Leary, R.J.2
Shimamura, A.3
-
29
-
-
34047182008
-
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast
-
Menne T, Goyenechea B, Sanchez-Puig N. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet 2007;39:486-95.
-
(2007)
Nat Genet
, vol.39
, pp. 486-495
-
-
Menne, T.1
Goyenechea, B.2
Sanchez-Puig, N.3
-
30
-
-
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
-
31
-
-
34848833327
-
Molecular basis of Diamond-Blackfan anemia: Structure and function analysis of RPS19
-
Gregory LA, Aguissa-Toure A-H, Pinaud N, Legrand P, Gleizes P-E, 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
-
32
-
-
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
-
33
-
-
11944274520
-
Nucleolar proteome dynamics
-
Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, et al. Nucleolar proteome dynamics. Nature 2005;433:77-83.
-
(2005)
Nature
, vol.433
, pp. 77-83
-
-
Andersen, J.S.1
Lam, Y.W.2
Leung, A.K.3
Ong, S.E.4
Lyon, C.E.5
Lamond, A.I.6
-
34
-
-
33745478477
-
Potential roles for ubiquitin and the proteasome during ribosome biogenesis
-
Stavreva DA, Kawasaki M, Dundr M, Koberna K, Müller WG, Tsujimura-Takahashi T, et al. Potential roles for ubiquitin and the proteasome during ribosome biogenesis. Mol Cell Biol 2006;26: 5131-45.
-
(2006)
Mol Cell Biol
, vol.26
, pp. 5131-5145
-
-
Stavreva, D.A.1
Kawasaki, M.2
Dundr, M.3
Koberna, K.4
Müller, W.G.5
Tsujimura-Takahashi, T.6
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