-
2
-
-
0035400085
-
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia
-
Gripp KW, McDonald-McGinn DM, La Rossa D, et al. Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. Am J Med Genet 2001; 101:268-274.
-
(2001)
Am J Med Genet
, vol.101
, pp. 268-274
-
-
Gripp, K.W.1
McDonald-Mcginn, D.M.2
La Rossa, D.3
-
3
-
-
0035129306
-
Osteogenic sarcoma associated with Diamond-Blackfan anemia: A report from the Diamond-Blackfan Anemia Registry
-
Lipton JM, Federman N, Khabbaze Y, et al. Osteogenic sarcoma associated with Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry. J Pediatr Hematol Oncol 2001; 23:39-44.
-
(2001)
J Pediatr Hematol Oncol
, vol.23
, pp. 39-44
-
-
Lipton, J.M.1
Federman, N.2
Khabbaze, Y.3
-
4
-
-
55549110774
-
Diamond-Blackfan anemia: A ribosomal puzzle
-
Dianzani I, Loreni F. Diamond-Blackfan anemia: a ribosomal puzzle. Haematologica 2008; 93:1601-1604.
-
(2008)
Haematologica
, vol.93
, pp. 1601-1604
-
-
Dianzani, I.1
Loreni, F.2
-
5
-
-
0001033529
-
Anemia of infancy and early childhood
-
Josephs H. Anemia of infancy and early childhood. Medicine 1936; 15:307-451.
-
(1936)
Medicine
, vol.15
, pp. 307-451
-
-
Josephs, H.1
-
7
-
-
50049093522
-
Diagnosing and treating Diamond Blackfan anaemia: Results of an international clinical consensus conference
-
Vlachos A, Ball S, Dahl N, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol 2008; 142:859-876.
-
(2008)
Br J Haematol
, vol.142
, pp. 859-876
-
-
Vlachos, A.1
Ball, S.2
Dahl, N.3
-
9
-
-
0032907438
-
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
-
Draptchinskaia N, Gustavsson P, Andersson B, et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet 1999; 21:169-175.
-
(1999)
Nat Genet
, vol.21
, pp. 169-175
-
-
Draptchinskaia, N.1
Gustavsson, P.2
Andersson, B.3
-
10
-
-
2042437071
-
Diamond Blackfan anaemia in the UK: Clinical and genetic heterogeneity
-
Orfali KA, Ohene-Abuakwa Y, Ball SE. Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity. Br J Haematol 2004; 125:243-252.
-
(2004)
Br J Haematol
, vol.125
, pp. 243-252
-
-
Orfali, K.A.1
Ohene-Abuakwa, Y.2
Ball, S.E.3
-
11
-
-
64149121742
-
The evolving spectrum of 'nonclassical' Diamond-Blackfan anaemia: A case of eADA positive pancytopenia in a young adult
-
Anur P, Nemecek ER, Kurre P. The evolving spectrum of 'nonclassical' Diamond-Blackfan anaemia: a case of eADA positive pancytopenia in a young adult. Br J Haematol 2009; 145:428-430.
-
(2009)
Br J Haematol
, vol.145
, pp. 428-430
-
-
Anur, P.1
Nemecek, E.R.2
Kurre, P.3
-
12
-
-
59449092569
-
Ocular hypertelorism and exotropia as presenting signs in Diamond-Blackfan anemia
-
Kuze M, Matsubara H, Uji Y. Ocular hypertelorism and exotropia as presenting signs in Diamond-Blackfan anemia. Jpn J Ophthalmol 2009; 53:67-68.
-
(2009)
Jpn J Ophthalmol
, vol.53
, pp. 67-68
-
-
Kuze, M.1
Matsubara, H.2
Uji, Y.3
-
13
-
-
57649088933
-
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients
-
Gazda HT, Sheen MR, Vlachos A, et al. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond- Blackfan anemia patients. Am J Hum Genet 2008; 83:769-780.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 769-780
-
-
Gazda, H.T.1
Sheen, M.R.2
Vlachos, A.3
-
14
-
-
50649104789
-
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
-
Farrar JE, Nater M, Caywood E, et al. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood 2008; 112: 1582-1592.
-
(2008)
Blood
, vol.112
, pp. 1582-1592
-
-
Farrar, J.E.1
Nater, M.2
Caywood, E.3
-
15
-
-
33845303558
-
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia
-
Gazda HT, Grabowska A, Merida-Long LB, et al. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet 2006; 79:1110-1118.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 1110-1118
-
-
Gazda, H.T.1
Grabowska, A.2
Merida-Long, L.B.3
-
16
-
-
34848913619
-
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
-
Cmejla R, Cmejlova J, Handrkova H, et al. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. HumMutat 2007; 28:1178-1182.
-
(2007)
Hum Mutat
, vol.28
, pp. 1178-1182
-
-
Cmejla, R.1
Cmejlova, J.2
Handrkova, H.3
-
17
-
-
38349088899
-
Identification of RPS14 as a 5q-syndrome gene by RNA interference screen
-
Ebert BL, Pretz J, Bosco J, et al. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature 2008; 451:335-339.
-
(2008)
Nature
, vol.451
, pp. 335-339
-
-
Ebert, B.L.1
Pretz, J.2
Bosco, J.3
-
18
-
-
50649096622
-
The role of human ribosomal proteins in the maturation of rRNA and ribosome production
-
Robledo S, Idol RA, Crimmins DL, et al. The role of human ribosomal proteins in the maturation of rRNA and ribosome production. RNA 2008; 14:1918-1929.
-
(2008)
RNA
, vol.14
, pp. 1918-1929
-
-
Robledo, S.1
Idol, R.A.2
Crimmins, D.L.3
-
19
-
-
58149250110
-
Many ribosomal protein mutations are associated with growth impairment and tumor predisposition in zebrafish
-
Lai K, Amsterdam A, Farrington S, et al. Many ribosomal protein mutations are associated with growth impairment and tumor predisposition in zebrafish. Dev Dyn 2009; 238:76-85.
-
(2009)
Dev Dyn
, vol.238
, pp. 76-85
-
-
Lai, K.1
Amsterdam, A.2
Farrington, S.3
-
20
-
-
0031613939
-
The minute genes in Drosophila and their molecular functions
-
Lambertsson A. The minute genes in Drosophila and their molecular functions. Adv Genet 1998; 38:69-134.
-
(1998)
Adv Genet
, vol.38
, pp. 69-134
-
-
Lambertsson, A.1
-
21
-
-
57649107153
-
Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family
-
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; 112:5228-5237.
-
(2008)
Blood
, vol.112
, pp. 5228-5237
-
-
Danilova, N.1
Sakamoto, K.M.2
Lin, S.3
-
22
-
-
53349108470
-
Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia
-
Uechi T, Nakajima Y, Chakraborty A, et al. 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; 17:3204-3211.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3204-3211
-
-
Uechi, T.1
Nakajima, Y.2
Chakraborty, A.3
-
23
-
-
48249117726
-
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects
-
McGowan KA, Li JZ, Park CY, et al. Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nat Genet 2008; 40:963-970.
-
(2008)
Nat Genet
, vol.40
, pp. 963-970
-
-
McGowan, K.A.1
Li, J.Z.2
Park, C.Y.3
-
24
-
-
34147144995
-
Diamond-Blackfan anemia: Erythropoiesis lost in translation
-
Flygare J, Karlsson S. Diamond-Blackfan anemia: erythropoiesis lost in translation. Blood 2007; 109:3152-3154.
-
(2007)
Blood
, vol.109
, pp. 3152-3154
-
-
Flygare, J.1
Karlsson, S.2
-
25
-
-
0016180710
-
Model for the regulation of mRNA translation applied to haemoglobin synthesis
-
Lodish HF. Model for the regulation of mRNA translation applied to haemoglobin synthesis. Nature 1974; 251:385-388.
-
(1974)
Nature
, vol.251
, pp. 385-388
-
-
Lodish, H.F.1
-
26
-
-
38949097546
-
A heme export protein is required for red blood cell differentiation and iron homeostasis
-
Keel SB, Doty RT, Yang Z, et al. A heme export protein is required for red blood cell differentiation and iron homeostasis. Science 2008; 319:825-828.
-
(2008)
Science
, vol.319
, pp. 825-828
-
-
Keel, S.B.1
Doty, R.T.2
Yang, Z.3
-
27
-
-
24644524981
-
Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia
-
Quigley JG, Gazda H, Yang Z, et al. Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia. Blood Cells Mol Dis 2005; 35:189-192.
-
(2005)
Blood Cells Mol Dis
, vol.35
, pp. 189-192
-
-
Quigley, J.G.1
Gazda, H.2
Yang, Z.3
-
28
-
-
55549129584
-
Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis
-
Rey MA, Duffy SP, Brown JK, et al. Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis. Haematologica 2008; 93:1617-1626.
-
(2008)
Haematologica
, vol.93
, pp. 1617-1626
-
-
Rey, M.A.1
Duffy, S.P.2
Brown, J.K.3
-
29
-
-
70449567430
-
Severe iron overload in Blackfan-Diamond anemia: A case-control study
-
Roggero S, Quarello P, Vinciguerra T, et al. Severe iron overload in Blackfan- Diamond anemia: a case-control study. Am J Hematol 2009; 84:729-732.
-
(2009)
Am J Hematol
, vol.84
, pp. 729-732
-
-
Roggero, S.1
Quarello, P.2
Vinciguerra, T.3
-
30
-
-
70349269040
-
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia
-
Badhai J, Frojmark AS, J Davey E, et al. Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia. Biochim Biophys Acta 2009; 1792:1036-1042.
-
(2009)
Biochim Biophys Acta
, vol.1792
, pp. 1036-1042
-
-
Badhai, J.1
Frojmark, A.S.2
Davey E, J.3
-
31
-
-
39049136491
-
Diamond Blackfan anemia: A disorder of red blood cell development
-
Ellis SR, Lipton JM. Diamond Blackfan anemia: a disorder of red blood cell development. Curr Top Dev Biol 2008; 82:217-241.
-
(2008)
Curr Top Dev Biol
, vol.82
, pp. 217-241
-
-
Ellis, S.R.1
Lipton, J.M.2
-
32
-
-
55549092113
-
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia
-
Boria I, Quarello P, Avondo F, et al. A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia. Hum Mutat 2008; 29:E263-270.
-
(2008)
Hum Mutat
, vol.29
-
-
Boria, I.1
Quarello, P.2
Avondo, F.3
-
33
-
-
4344660471
-
Inhibition of HDM2 and activation of p53 by ribosomal protein L23
-
Jin A, Itahana K, O'Keefe K, Zhang Y. Inhibition of HDM2 and activation of p53 by ribosomal protein L23. Mol Cell Biol 2004; 24:7669-7680.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 7669-7680
-
-
Jin, A.1
Itahana, K.2
O'Keefe, K.3
Zhang, Y.4
-
34
-
-
4344685939
-
Ribosomal protein L23 activates p53 by inhibiting MDM2 function in response to ribosomal perturbation but not to translation inhibition
-
Dai MS, Zeng SX, Jin Y, et al. Ribosomal protein L23 activates p53 by inhibiting MDM2 function in response to ribosomal perturbation but not to translation inhibition. Mol Cell Biol 2004; 24:7654-7668.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 7654-7668
-
-
Dai, M.S.1
Zeng, S.X.2
Jin, Y.3
-
35
-
-
0027999512
-
The ribosomal L5 protein is associated with mdm-2 and mdm-2-p53 complexes
-
Marechal V, Elenbaas B, Piette J, et al. The ribosomal L5 protein is associated with mdm-2 and mdm-2-p53 complexes. Mol Cell Biol 1994; 14:7414-7420.
-
(1994)
Mol Cell Biol
, vol.14
, pp. 7414-7420
-
-
Marechal, V.1
Elenbaas, B.2
Piette, J.3
-
36
-
-
0038724615
-
Regulation of HDM2 activity by the ribosomal protein L11
-
Lohrum MA, Ludwig RL, Kubbutat MH, et al. Regulation of HDM2 activity by the ribosomal protein L11. Cancer Cell 2003; 3:577-587.
-
(2003)
Cancer Cell
, vol.3
, pp. 577-587
-
-
Lohrum, M.A.1
Ludwig, R.L.2
Kubbutat, M.H.3
-
37
-
-
0242721592
-
Ribosomal protein L11 negatively regulates oncoprotein MDM2 and mediates a p53-dependent ribosomal-stress checkpoint pathway
-
Zhang Y, Wolf GW, Bhat K, et al. Ribosomal protein L11 negatively regulates oncoprotein MDM2 and mediates a p53-dependent ribosomal-stress checkpoint pathway. Mol Cell Biol 2003; 23:8902-8912.
-
(2003)
Mol Cell Biol
, vol.23
, pp. 8902-8912
-
-
Zhang, Y.1
Wolf, G.W.2
Bhat, K.3
-
38
-
-
64049107857
-
Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translationdependent mechanism of p53 induction
-
Fumagalli S, Di Cara A, Neb-Gulati A, et al. Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translationdependent mechanism of p53 induction. Nat Cell Biol 2009; 11:501-508.
-
(2009)
Nat Cell Biol
, vol.11
, pp. 501-508
-
-
Fumagalli, S.1
Di Cara, A.2
Neb-Gulati, A.3
-
39
-
-
0033761629
-
Synthesis of the translational apparatus is regulated at the translational level
-
Meyuhas O. Synthesis of the translational apparatus is regulated at the translational level. Eur J Biochem 2000; 267:6321-6330.
-
(2000)
Eur J Biochem
, vol.267
, pp. 6321-6330
-
-
Meyuhas, O.1
-
40
-
-
68349160548
-
Ribosomal protein S7 is both a regulator and a substrate of MDM2
-
Zhu Y, PoyurovskyMV, Li Y, et al. Ribosomal protein S7 is both a regulator and a substrate of MDM2. Mol Cell 2009; 35:316-326.
-
(2009)
Mol Cell
, vol.35
, pp. 316-326
-
-
Zhu, Y.1
Poyurovsky, M.V.2
Li, Y.3
-
41
-
-
0029814274
-
Treacher Collins syndrome
-
Dixon MJ. Treacher Collins syndrome. Hum Mol Genet 1996; 5 Spec No:1391-1396.
-
(1996)
Hum Mol Genet
, vol.5
, Issue.SPEC NO.
, pp. 1391-1396
-
-
Dixon, M.J.1
-
42
-
-
60349114320
-
Treacher Collins syndrome: Unmasking the role of Tcof1/ treacle
-
Sakai D, Trainor PA. Treacher Collins syndrome: unmasking the role of Tcof1/ treacle. Int J Biochem Cell Biol 2009; 41:1229-1232.
-
(2009)
Int J Biochem Cell Biol
, vol.41
, pp. 1229-1232
-
-
Sakai, D.1
Trainor, P.A.2
-
43
-
-
38949170601
-
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function
-
Jones NC, Lynn ML, Gaudenz K, et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med 2008; 14:125-133.
-
(2008)
Nat Med
, vol.14
, pp. 125-133
-
-
Jones, N.C.1
Lynn, M.L.2
Gaudenz, K.3
-
44
-
-
75749115893
-
Distinct ribosome maturation defects in yeast models of Diamond Blackfan anemia and Shwachman Diamond syndrome
-
[Epub ahead of print]
-
Moore JBT, Farrar JE, Arceci RJ, et al. Distinct ribosome maturation defects in yeast models of Diamond Blackfan anemia and Shwachman Diamond syndrome. Haematologica 2009. [Epub ahead of print]
-
(2009)
Haematologica
-
-
Moore, J.B.T.1
Farrar, J.E.2
Arceci, R.J.3
-
45
-
-
67651214254
-
Analysis of telomeres in peripheral blood cells from patients with bone marrow failure
-
Pavesi E, Avondo F, Aspesi A, et al. Analysis of telomeres in peripheral blood cells from patients with bone marrow failure. Pediatr Blood Cancer 2009; 53:411-416.
-
(2009)
Pediatr Blood Cancer
, vol.53
, pp. 411-416
-
-
Pavesi, E.1
Avondo, F.2
Aspesi, A.3
-
46
-
-
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; 107:4583-4588.
-
(2006)
Blood
, vol.107
, pp. 4583-4588
-
-
Liu, J.M.1
Ellis, S.R.2
-
47
-
-
33750939777
-
Translational efficiency in patients with Diamond-Blackfan anemia
-
Cmejlova J, Dolezalova L, Pospisilova D, et al. Translational efficiency in patients with Diamond-Blackfan anemia. Haematologica 2006; 91:1456-1464.
-
(2006)
Haematologica
, vol.91
, pp. 1456-1464
-
-
Cmejlova, J.1
Dolezalova, L.2
Pospisilova, D.3
-
48
-
-
34548817330
-
Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine
-
Pospisilova D, Cmejlova J, Hak J, et al. Successful treatment of a Diamond- Blackfan anemia patient with amino acid leucine. Haematologica 2007; 92:e66-e67.
-
(2007)
Haematologica
, vol.92
-
-
Pospisilova, D.1
Cmejlova, J.2
Hak, J.3
-
49
-
-
31544466776
-
Signaling pathways and molecular mechanisms through which branched-chain amino acids mediate translational control of protein synthesis
-
Kimball SR, Jefferson LS. Signaling pathways and molecular mechanisms through which branched-chain amino acids mediate translational control of protein synthesis. J Nutr 2006; 136:227S-231S.
-
(2006)
J Nutr
, vol.136
-
-
Kimball, S.R.1
Jefferson, L.S.2
-
50
-
-
53749092159
-
Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation
-
Flygare J, Olsson K, Richter J, Karlsson S. Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation. Exp Hematol 2008; 36:1428-1435.
-
(2008)
Exp Hematol
, vol.36
, pp. 1428-1435
-
-
Flygare, J.1
Olsson, K.2
Richter, J.3
Karlsson, S.4
|