-
2
-
-
0035400085
-
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia
-
Gripp K.W., McDonald-McGinn D.M., La Rossa D., et al. Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. Am J Med Genet 101 (2001) 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 J.M., 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 23 (2001) 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., and Loreni F. Diamond-Blackfan anemia: a ribosomal puzzle. Haematologica 93 (2008) 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 15 (1936) 307-451
-
(1936)
Medicine
, vol.15
, pp. 307-451
-
-
Josephs, H.1
-
8
-
-
0021045343
-
Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia
-
Glader B.E., Backer K., and Diamond L.K. Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. N Engl J Med 309 (1983) 1486-1490
-
(1983)
N Engl J Med
, vol.309
, pp. 1486-1490
-
-
Glader, B.E.1
Backer, K.2
Diamond, L.K.3
-
9
-
-
0034841762
-
The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia
-
Vlachos A., Klein G.W., and Lipton J.M. The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. J Pediatr Hematol Oncol 23 (2001) 377-382
-
(2001)
J Pediatr Hematol Oncol
, vol.23
, pp. 377-382
-
-
Vlachos, A.1
Klein, G.W.2
Lipton, J.M.3
-
10
-
-
0032231651
-
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity
-
Gustavsson P., Garelli E., Draptchinskaia N., et al. Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. Am J Hum Genet 63 (1998) 1388-1395
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1388-1395
-
-
Gustavsson, P.1
Garelli, E.2
Draptchinskaia, N.3
-
11
-
-
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 21 (1999) 169-175
-
(1999)
Nat Genet
, vol.21
, pp. 169-175
-
-
Draptchinskaia, N.1
Gustavsson, P.2
Andersson, B.3
-
12
-
-
2042437071
-
Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity
-
Orfali K.A., Ohene-Abuakwa Y., and Ball S.E. Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity. Br J Haematol 125 (2004) 243-252
-
(2004)
Br J Haematol
, vol.125
, pp. 243-252
-
-
Orfali, K.A.1
Ohene-Abuakwa, Y.2
Ball, S.E.3
-
13
-
-
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 142 (2008) 859-876
-
(2008)
Br J Haematol
, vol.142
, pp. 859-876
-
-
Vlachos, A.1
Ball, S.2
Dahl, N.3
-
14
-
-
0021999796
-
Diamond-Blackfan syndrome in adult patients
-
Balaban E.P., Buchanan G.R., Graham M., et al. Diamond-Blackfan syndrome in adult patients. Am J Med 78 (1985) 533-538
-
(1985)
Am J Med
, vol.78
, pp. 533-538
-
-
Balaban, E.P.1
Buchanan, G.R.2
Graham, M.3
-
15
-
-
0032723176
-
Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Societe d'Hematologie et d'Immunologie Pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI)
-
Willig T.N., Niemeyer C.M., Leblanc T., et al. Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Societe d'Hematologie et d'Immunologie Pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr Res 46 (1999) 553-561
-
(1999)
Pediatr Res
, vol.46
, pp. 553-561
-
-
Willig, T.N.1
Niemeyer, C.M.2
Leblanc, T.3
-
16
-
-
2942724097
-
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature
-
Campagnoli M.F., Garelli E., Quarello P., et al. Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. Haematologica 89 (2004) 480-489
-
(2004)
Haematologica
, vol.89
, pp. 480-489
-
-
Campagnoli, M.F.1
Garelli, E.2
Quarello, P.3
-
17
-
-
0842278683
-
Diamond-Blackfan anemia in Japan: clinical outcomes of prednisolone therapy and hematopoietic stem cell transplantation
-
Ohga S., Mugishima H., Ohara A., et al. Diamond-Blackfan anemia in Japan: clinical outcomes of prednisolone therapy and hematopoietic stem cell transplantation. Int J Hematol 79 (2004) 22-30
-
(2004)
Int J Hematol
, vol.79
, pp. 22-30
-
-
Ohga, S.1
Mugishima, H.2
Ohara, A.3
-
18
-
-
0017290505
-
Erythroid colony growth in congenital hypoplastic anemia
-
Freedman M.H., Amato D., and Saunders E.F. Erythroid colony growth in congenital hypoplastic anemia. J Clin Invest 57 (1976) 673-677
-
(1976)
J Clin Invest
, vol.57
, pp. 673-677
-
-
Freedman, M.H.1
Amato, D.2
Saunders, E.F.3
-
19
-
-
0017863247
-
Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia
-
Nathan D.G., Clarke B.J., Hillman D.G., et al. Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia. J Clin Invest 61 (1978) 489-498
-
(1978)
J Clin Invest
, vol.61
, pp. 489-498
-
-
Nathan, D.G.1
Clarke, B.J.2
Hillman, D.G.3
-
20
-
-
0022647619
-
Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia
-
Lipton J.M., Kudisch M., Gross R., et al. Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia. Blood 67 (1986) 962-968
-
(1986)
Blood
, vol.67
, pp. 962-968
-
-
Lipton, J.M.1
Kudisch, M.2
Gross, R.3
-
21
-
-
0020055945
-
Diamond-Blackfan syndrome. II. In vitro corticosteroid effect on erythropoiesis
-
Chan H.S., Saunders E.F., and Freedman M.H. Diamond-Blackfan syndrome. II. In vitro corticosteroid effect on erythropoiesis. Pediatr Res 16 (1982) 477-478
-
(1982)
Pediatr Res
, vol.16
, pp. 477-478
-
-
Chan, H.S.1
Saunders, E.F.2
Freedman, M.H.3
-
22
-
-
33645282549
-
Erythropoiesis in the Rps19 disrupted mouse: analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia
-
Matsson H., Davey E.J., Frojmark A.S., et al. Erythropoiesis in the Rps19 disrupted mouse: analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia. Blood Cells Mol Dis 36 (2006) 259-264
-
(2006)
Blood Cells Mol Dis
, vol.36
, pp. 259-264
-
-
Matsson, H.1
Davey, E.J.2
Frojmark, A.S.3
-
23
-
-
0027200722
-
Lack of effect of corticosteroids in W/Wv and S1/S1d mice: these strains are not a model for steroid-responsive Diamond-Blackfan anemia
-
Alter B.P., Gaston T., and Lipton J.M. Lack of effect of corticosteroids in W/Wv and S1/S1d mice: these strains are not a model for steroid-responsive Diamond-Blackfan anemia. Eur J Haematol 50 (1993) 275-278
-
(1993)
Eur J Haematol
, vol.50
, pp. 275-278
-
-
Alter, B.P.1
Gaston, T.2
Lipton, J.M.3
-
24
-
-
57649107153
-
Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family
-
Danilova N., Sakamoto K.M., and Lin S. Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family. Blood 112 (2008) 5228-5237
-
(2008)
Blood
, vol.112
, pp. 5228-5237
-
-
Danilova, N.1
Sakamoto, K.M.2
Lin, S.3
-
25
-
-
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 17 (2008) 3204-3211
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3204-3211
-
-
Uechi, T.1
Nakajima, Y.2
Chakraborty, A.3
-
26
-
-
50649104789
-
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
-
Farrar J.E., Nater M., Caywood E., et al. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood 112 (2008) 1582-1592
-
(2008)
Blood
, vol.112
, pp. 1582-1592
-
-
Farrar, J.E.1
Nater, M.2
Caywood, E.3
-
27
-
-
48249117726
-
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects
-
McGowan K.A., Li J.Z., Park C.Y., et al. Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nat Genet 40 (2008) 963-970
-
(2008)
Nat Genet
, vol.40
, pp. 963-970
-
-
McGowan, K.A.1
Li, J.Z.2
Park, C.Y.3
-
28
-
-
11244326224
-
Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect
-
Ohene-Abuakwa Y., Orfali K.A., Marius C., et al. Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect. Blood 105 (2005) 838-846
-
(2005)
Blood
, vol.105
, pp. 838-846
-
-
Ohene-Abuakwa, Y.1
Orfali, K.A.2
Marius, C.3
-
29
-
-
0028118411
-
Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis
-
Perdahl E.B., Naprstek B.L., Wallace W.C., et al. Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. Blood 83 (1994) 645-650
-
(1994)
Blood
, vol.83
, pp. 645-650
-
-
Perdahl, E.B.1
Naprstek, B.L.2
Wallace, W.C.3
-
30
-
-
0024435040
-
An intrinsic progenitor defect in Diamond-Blackfan anaemia
-
Tsai P.H., Arkin S., and Lipton J.M. An intrinsic progenitor defect in Diamond-Blackfan anaemia. Br J Haematol 73 (1989) 112-120
-
(1989)
Br J Haematol
, vol.73
, pp. 112-120
-
-
Tsai, P.H.1
Arkin, S.2
Lipton, J.M.3
-
31
-
-
39049136491
-
Diamond Blackfan anemia: a disorder of red blood cell development
-
Ellis S.R., and Lipton J.M. Diamond Blackfan anemia: a disorder of red blood cell development. Curr Top Dev Biol 82 (2008) 217-241
-
(2008)
Curr Top Dev Biol
, vol.82
, pp. 217-241
-
-
Ellis, S.R.1
Lipton, J.M.2
-
32
-
-
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. Hum Mutat 28 (2007) 1178-1182
-
(2007)
Hum Mutat
, vol.28
, pp. 1178-1182
-
-
Cmejla, R.1
Cmejlova, J.2
Handrkova, H.3
-
33
-
-
33845303558
-
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia
-
Gazda H.T., Grabowska A., Merida-Long L.B., et al. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet 79 (2006) 1110-1118
-
(2006)
Am J Hum Genet
, vol.79
, pp. 1110-1118
-
-
Gazda, H.T.1
Grabowska, A.2
Merida-Long, L.B.3
-
34
-
-
57649088933
-
Ribosomal Protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients
-
Gazda H.T., Sheen M.R., 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 83 (2008) 769-780
-
(2008)
Am J Hum Genet
, vol.83
, pp. 769-780
-
-
Gazda, H.T.1
Sheen, M.R.2
Vlachos, A.3
-
35
-
-
34248543639
-
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production
-
Idol R.A., Robledo S., Du H.Y., et al. Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. Blood Cells Mol Dis 39 (2007) 35-43
-
(2007)
Blood Cells Mol Dis
, vol.39
, pp. 35-43
-
-
Idol, R.A.1
Robledo, S.2
Du, H.Y.3
-
36
-
-
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 J.C., et al. Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood 109 (2007) 980-986
-
(2007)
Blood
, vol.109
, pp. 980-986
-
-
Flygare, J.1
Aspesi, A.2
Bailey, J.C.3
-
37
-
-
33846873892
-
Impaired ribosome biogenesis in Diamond-Blackfan anemia
-
Choesmel V., Bacqueville D., Rouquette J., et al. Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood 109 (2007) 1275-1283
-
(2007)
Blood
, vol.109
, pp. 1275-1283
-
-
Choesmel, V.1
Bacqueville, D.2
Rouquette, J.3
-
38
-
-
4344660471
-
Inhibition of HDM2 and activation of p53 by ribosomal protein L23
-
Jin A., Itahana K., O'Keefe K., et al. Inhibition of HDM2 and activation of p53 by ribosomal protein L23. Mol Cell Biol 24 (2004) 7669-7680
-
(2004)
Mol Cell Biol
, vol.24
, pp. 7669-7680
-
-
Jin, A.1
Itahana, K.2
O'Keefe, K.3
-
39
-
-
4344685939
-
Ribosomal protein L23 activates p53 by inhibiting MDM2 function in response to ribosomal perturbation but not to translation inhibition
-
Dai M.S., Zeng S.X., 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 24 (2004) 7654-7668
-
(2004)
Mol Cell Biol
, vol.24
, pp. 7654-7668
-
-
Dai, M.S.1
Zeng, S.X.2
Jin, Y.3
-
40
-
-
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 14 (1994) 7414-7420
-
(1994)
Mol Cell Biol
, vol.14
, pp. 7414-7420
-
-
Marechal, V.1
Elenbaas, B.2
Piette, J.3
-
41
-
-
0038724615
-
Regulation of HDM2 activity by the ribosomal protein L11
-
Lohrum M.A., Ludwig R.L., Kubbutat M.H., et al. Regulation of HDM2 activity by the ribosomal protein L11. Cancer Cell 3 (2003) 577-587
-
(2003)
Cancer Cell
, vol.3
, pp. 577-587
-
-
Lohrum, M.A.1
Ludwig, R.L.2
Kubbutat, M.H.3
-
42
-
-
0242721592
-
Ribosomal protein L11 negatively regulates oncoprotein MDM2 and mediates a p53-dependent ribosomal-stress checkpoint pathway
-
Zhang Y., Wolf G.W., Bhat K., et al. Ribosomal protein L11 negatively regulates oncoprotein MDM2 and mediates a p53-dependent ribosomal-stress checkpoint pathway. Mol Cell Biol 23 (2003) 8902-8912
-
(2003)
Mol Cell Biol
, vol.23
, pp. 8902-8912
-
-
Zhang, Y.1
Wolf, G.W.2
Bhat, K.3
-
43
-
-
0016153699
-
Assembly mapping of 30 S ribosomal proteins from Escherichia coli: further studies
-
Held W.A., Ballou B., Mizushima S., et al. Assembly mapping of 30 S ribosomal proteins from Escherichia coli: further studies. J Biol Chem 249 (1974) 3103-3111
-
(1974)
J Biol Chem
, vol.249
, pp. 3103-3111
-
-
Held, W.A.1
Ballou, B.2
Mizushima, S.3
-
44
-
-
10944267609
-
A surfeit of factors: why is ribosome assembly so much more complicated in eukaryotes than bacteria?
-
Hage A.E., and Tollervey D. A surfeit of factors: why is ribosome assembly so much more complicated in eukaryotes than bacteria?. RNA Biol 1 (2004) 10-15
-
(2004)
RNA Biol
, vol.1
, pp. 10-15
-
-
Hage, A.E.1
Tollervey, D.2
-
45
-
-
34247391127
-
Analysis of nucleolar protein dynamics reveals the nuclear degradation of ribosomal proteins
-
Lam Y.W., Lamond A.I., Mann M., et al. Analysis of nucleolar protein dynamics reveals the nuclear degradation of ribosomal proteins. Curr Biol 17 (2007) 749-760
-
(2007)
Curr Biol
, vol.17
, pp. 749-760
-
-
Lam, Y.W.1
Lamond, A.I.2
Mann, M.3
-
46
-
-
34547620115
-
Ribosomal protein S7 as a novel modulator of p53-MDM2 interaction: binding to MDM2, stabilization of p53 protein, and activation of p53 function
-
Chen D., Zhang Z., Li M., et al. Ribosomal protein S7 as a novel modulator of p53-MDM2 interaction: binding to MDM2, stabilization of p53 protein, and activation of p53 function. Oncogene 26 (2007) 5029-5037
-
(2007)
Oncogene
, vol.26
, pp. 5029-5037
-
-
Chen, D.1
Zhang, Z.2
Li, M.3
-
47
-
-
53249142431
-
Cooperation between the ribosomal proteins L5 and L11 in the p53 pathway
-
Horn H.F., and Vousden K.H. Cooperation between the ribosomal proteins L5 and L11 in the p53 pathway. Oncogene 27 (2008) 5774-5784
-
(2008)
Oncogene
, vol.27
, pp. 5774-5784
-
-
Horn, H.F.1
Vousden, K.H.2
-
48
-
-
33847779971
-
Putting a finger on growth surveillance: insight into MDM2 zinc finger-ribosomal protein interactions
-
Lindstrom M.S., Deisenroth C., and Zhang Y. Putting a finger on growth surveillance: insight into MDM2 zinc finger-ribosomal protein interactions. Cell Cycle 6 (2007) 434-437
-
(2007)
Cell Cycle
, vol.6
, pp. 434-437
-
-
Lindstrom, M.S.1
Deisenroth, C.2
Zhang, Y.3
-
49
-
-
57349115332
-
Nucleophosmin serves as a rate-limiting nuclear export chaperone for the mammalian ribosome
-
Maggi Jr. L.B., Kuchenruether M., Dadey D.Y., et al. Nucleophosmin serves as a rate-limiting nuclear export chaperone for the mammalian ribosome. Mol Cell Biol 28 (2008) 7050-7065
-
(2008)
Mol Cell Biol
, vol.28
, pp. 7050-7065
-
-
Maggi Jr., L.B.1
Kuchenruether, M.2
Dadey, D.Y.3
-
50
-
-
6344288701
-
ARF impedes NPM/B23 shuttling in an Mdm2-sensitive tumor suppressor pathway
-
Brady S.N., Yu Y., Maggi Jr. L.B., et al. ARF impedes NPM/B23 shuttling in an Mdm2-sensitive tumor suppressor pathway. Mol Cell Biol 24 (2004) 9327-9338
-
(2004)
Mol Cell Biol
, vol.24
, pp. 9327-9338
-
-
Brady, S.N.1
Yu, Y.2
Maggi Jr., L.B.3
-
51
-
-
0001240108
-
Erythrogenesis imperfecta
-
Cathie I.A.B. Erythrogenesis imperfecta. Arch Dis Child 25 (1950) 313-324
-
(1950)
Arch Dis Child
, vol.25
, pp. 313-324
-
-
Cathie, I.A.B.1
-
52
-
-
0014478323
-
Congenital anemia and triphalangeal thumbs: a new syndrome
-
Aase Jm S.D. Congenital anemia and triphalangeal thumbs: a new syndrome. J Pediatr 74 (1969) 471-472
-
(1969)
J Pediatr
, vol.74
, pp. 471-472
-
-
Aase Jm, S.D.1
-
53
-
-
0017807970
-
Thumbs and anemia
-
Alter B.P. Thumbs and anemia. Pediatrics 62 (1978) 613-614
-
(1978)
Pediatrics
, vol.62
, pp. 613-614
-
-
Alter, B.P.1
-
54
-
-
33645284981
-
Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry
-
Lipton J.M., Atsidaftos E., Zyskind I., et al. Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer 46 (2006) 558-564
-
(2006)
Pediatr Blood Cancer
, vol.46
, pp. 558-564
-
-
Lipton, J.M.1
Atsidaftos, E.2
Zyskind, I.3
-
55
-
-
7744244944
-
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
-
Teber O.A., Gillessen-Kaesbach G., Fischer S., et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 12 (2004) 879-890
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 879-890
-
-
Teber, O.A.1
Gillessen-Kaesbach, G.2
Fischer, S.3
-
56
-
-
0014071819
-
Mandibulo-facial dysostosis (Treacher-Collins syndrome)
-
Fazen L.E., Elmore J., and Nadler H.L. Mandibulo-facial dysostosis (Treacher-Collins syndrome). Am J Dis Child 113 (1967) 405-410
-
(1967)
Am J Dis Child
, vol.113
, pp. 405-410
-
-
Fazen, L.E.1
Elmore, J.2
Nadler, H.L.3
-
58
-
-
0030995546
-
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region
-
Wise C.A., Chiang L.C., Paznekas W.A., et al. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc Natl Acad Sci U S A 94 (1997) 3110-3115
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 3110-3115
-
-
Wise, C.A.1
Chiang, L.C.2
Paznekas, W.A.3
-
59
-
-
1542500570
-
Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons
-
So R.B., Gonzales B., Henning D., et al. Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. Gene 328 (2004) 49-57
-
(2004)
Gene
, vol.328
, pp. 49-57
-
-
So, R.B.1
Gonzales, B.2
Henning, D.3
-
60
-
-
0030903167
-
Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene
-
Dixon J., Edwards S.J., Anderson I., et al. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Genome Res 7 (1997) 223-234
-
(1997)
Genome Res
, vol.7
, pp. 223-234
-
-
Dixon, J.1
Edwards, S.J.2
Anderson, I.3
-
61
-
-
0029814274
-
Treacher Collins syndrome
-
Dixon M.J. Treacher Collins syndrome. Hum Mol Genet 5 Spec No (1996) 1391-1396
-
(1996)
Hum Mol Genet
, vol.5
, Issue.Spec No
, pp. 1391-1396
-
-
Dixon, M.J.1
-
62
-
-
3242671307
-
The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor
-
Valdez B.C., Henning D., So R.B., et al. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Proc Natl Acad Sci U S A 101 (2004) 10709-10714
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 10709-10714
-
-
Valdez, B.C.1
Henning, D.2
So, R.B.3
-
63
-
-
26444526314
-
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation
-
Gonzales B., Henning D., So R.B., et al. The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. Hum Mol Genet 14 (2005) 2035-2043
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2035-2043
-
-
Gonzales, B.1
Henning, D.2
So, R.B.3
-
64
-
-
0034641134
-
Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome
-
Dixon J., Brakebusch C., Fassler R., et al. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. Hum Mol Genet 9 (2000) 1473-1480
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1473-1480
-
-
Dixon, J.1
Brakebusch, C.2
Fassler, R.3
-
65
-
-
38949170601
-
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function
-
Jones N.C., Lynn M.L., Gaudenz K., et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med 14 (2008) 125-133
-
(2008)
Nat Med
, vol.14
, pp. 125-133
-
-
Jones, N.C.1
Lynn, M.L.2
Gaudenz, K.3
-
67
-
-
33646948032
-
Hodgkin lymphoma in a child with Diamond Blackfan anemia
-
Yaris N., Erduran E., and Cobanoglu U. Hodgkin lymphoma in a child with Diamond Blackfan anemia. J Pediatr Hematol Oncol 28 (2006) 234-236
-
(2006)
J Pediatr Hematol Oncol
, vol.28
, pp. 234-236
-
-
Yaris, N.1
Erduran, E.2
Cobanoglu, U.3
-
68
-
-
0029940791
-
Diamond-Blackfan anemia: natural history and sequelae of treatment
-
Janov A.J., Leong T., Nathan D.G., et al. Diamond-Blackfan anemia: natural history and sequelae of treatment. Medicine (Baltimore) 75 (1996) 77-78
-
(1996)
Medicine (Baltimore)
, vol.75
, pp. 77-78
-
-
Janov, A.J.1
Leong, T.2
Nathan, D.G.3
-
70
-
-
37249056583
-
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
-
Rosenberg P.S., Alter B.P., Link D.C., et al. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol 140 (2008) 210-213
-
(2008)
Br J Haematol
, vol.140
, pp. 210-213
-
-
Rosenberg, P.S.1
Alter, B.P.2
Link, D.C.3
-
71
-
-
0032722653
-
Selective pressure as an essential force in molecular evolution of myeloid leukemic clones: a view from the window of Fanconi anemia
-
Lensch M.W., Rathbun R.K., Olson S.B., et al. Selective pressure as an essential force in molecular evolution of myeloid leukemic clones: a view from the window of Fanconi anemia. Leukemia 13 (1999) 1784-1789
-
(1999)
Leukemia
, vol.13
, pp. 1784-1789
-
-
Lensch, M.W.1
Rathbun, R.K.2
Olson, S.B.3
-
72
-
-
36048948219
-
TNF-alpha induces leukemic clonal evolution ex vivo in Fanconi anemia group C murine stem cells
-
Li J., Sejas D.P., Zhang X., et al. TNF-alpha induces leukemic clonal evolution ex vivo in Fanconi anemia group C murine stem cells. J Clin Invest 117 (2007) 3283-3295
-
(2007)
J Clin Invest
, vol.117
, pp. 3283-3295
-
-
Li, J.1
Sejas, D.P.2
Zhang, X.3
-
73
-
-
33846617807
-
Cancer-associated mutations in the MDM2 zinc finger domain disrupt ribosomal protein interaction and attenuate MDM2-induced p53 degradation
-
Lindstrom M.S., Jin A., Deisenroth C., et al. Cancer-associated mutations in the MDM2 zinc finger domain disrupt ribosomal protein interaction and attenuate MDM2-induced p53 degradation. Mol Cell Biol 27 (2007) 1056-1068
-
(2007)
Mol Cell Biol
, vol.27
, pp. 1056-1068
-
-
Lindstrom, M.S.1
Jin, A.2
Deisenroth, C.3
-
74
-
-
0034977001
-
Evidence of p53-dependent cross-talk between ribosome biogenesis and the cell cycle: effects of nucleolar protein Bop1 on G(1)/S transition
-
Pestov D.G., Strezoska Z., and Lau L.F. Evidence of p53-dependent cross-talk between ribosome biogenesis and the cell cycle: effects of nucleolar protein Bop1 on G(1)/S transition. Mol Cell Biol 21 (2001) 4246-4255
-
(2001)
Mol Cell Biol
, vol.21
, pp. 4246-4255
-
-
Pestov, D.G.1
Strezoska, Z.2
Lau, L.F.3
-
75
-
-
17744400301
-
N-myc enhances the expression of a large set of genes functioning in ribosome biogenesis and protein synthesis
-
Boon K., Caron H.N., van Asperen R., et al. N-myc enhances the expression of a large set of genes functioning in ribosome biogenesis and protein synthesis. EMBO J 20 (2001) 1383-1393
-
(2001)
EMBO J
, vol.20
, pp. 1383-1393
-
-
Boon, K.1
Caron, H.N.2
van Asperen, R.3
-
76
-
-
14744288294
-
The myc trilogy: lord of RNA polymerases
-
Oskarsson T., and Trumpp A. The myc trilogy: lord of RNA polymerases. Nat Cell Biol 7 (2005) 215-217
-
(2005)
Nat Cell Biol
, vol.7
, pp. 215-217
-
-
Oskarsson, T.1
Trumpp, A.2
-
77
-
-
0037363075
-
Does the ribosome translate cancer?
-
Ruggero D., and Pandolfi P.P. Does the ribosome translate cancer?. Nat Rev Cancer 3 (2003) 179-192
-
(2003)
Nat Rev Cancer
, vol.3
, pp. 179-192
-
-
Ruggero, D.1
Pandolfi, P.P.2
-
78
-
-
19344366193
-
Many ribosomal protein genes are cancer genes in zebrafish
-
Amsterdam A., Sadler K.C., Lai K., et al. Many ribosomal protein genes are cancer genes in zebrafish. PLoS Biol 2 (2004) E139
-
(2004)
PLoS Biol
, vol.2
-
-
Amsterdam, A.1
Sadler, K.C.2
Lai, K.3
-
79
-
-
33745063192
-
Ribosomes and marrow failure: coincidental association or molecular paradigm?
-
Liu J.M., and Ellis S.R. Ribosomes and marrow failure: coincidental association or molecular paradigm?. Blood 107 (2006) 4583-4588
-
(2006)
Blood
, vol.107
, pp. 4583-4588
-
-
Liu, J.M.1
Ellis, S.R.2
-
80
-
-
33947718710
-
The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review
-
Morimoto K., Lin S., and Sakamoto K. The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review. Mol Genet Metab 90 (2007) 358-362
-
(2007)
Mol Genet Metab
, vol.90
, pp. 358-362
-
-
Morimoto, K.1
Lin, S.2
Sakamoto, K.3
-
81
-
-
0031868228
-
Developmental biology of erythropoiesis
-
Palis J., and Segel G.B. Developmental biology of erythropoiesis. Blood Rev 12 (1998) 106-114
-
(1998)
Blood Rev
, vol.12
, pp. 106-114
-
-
Palis, J.1
Segel, G.B.2
-
82
-
-
0026541224
-
Erythropoiesis is distinct at each stage of ontogeny
-
Weinberg R.S., He L.Y., and Alter B.P. Erythropoiesis is distinct at each stage of ontogeny. Pediatr Res 31 (1992) 170-175
-
(1992)
Pediatr Res
, vol.31
, pp. 170-175
-
-
Weinberg, R.S.1
He, L.Y.2
Alter, B.P.3
-
83
-
-
0020068447
-
Mode of action of the IgG inhibitor of erythropoiesis in transient erythroblastopenia of children
-
Dessypris E.N., Krantz S.B., Roloff J.S., et al. Mode of action of the IgG inhibitor of erythropoiesis in transient erythroblastopenia of children. Blood 59 (1982) 114-123
-
(1982)
Blood
, vol.59
, pp. 114-123
-
-
Dessypris, E.N.1
Krantz, S.B.2
Roloff, J.S.3
-
84
-
-
77951331706
-
Aplastische anämie (cronische erythroblastophthise) und cortison
-
Gasser C. Aplastische anämie (cronische erythroblastophthise) und cortison. Schweiz Med Wochenschr 81 (1951) 1241-1242
-
(1951)
Schweiz Med Wochenschr
, vol.81
, pp. 1241-1242
-
-
Gasser, C.1
-
85
-
-
0031001278
-
Iron-chelating therapy and the treatment of thalassemia
-
Olivieri N.F., and Brittenham G.M. Iron-chelating therapy and the treatment of thalassemia. Blood 89 (1997) 739-761
-
(1997)
Blood
, vol.89
, pp. 739-761
-
-
Olivieri, N.F.1
Brittenham, G.M.2
-
86
-
-
10744230223
-
Effectiveness and safety of ICL670 in iron-loaded patients with thalassaemia: a randomised, double-blind, placebo-controlled, dose-escalation trial
-
Nisbet-Brown E., Olivieri N.F., Giardina P.J., et al. Effectiveness and safety of ICL670 in iron-loaded patients with thalassaemia: a randomised, double-blind, placebo-controlled, dose-escalation trial. Lancet 361 (2003) 1597-1602
-
(2003)
Lancet
, vol.361
, pp. 1597-1602
-
-
Nisbet-Brown, E.1
Olivieri, N.F.2
Giardina, P.J.3
-
87
-
-
0032728680
-
Pregnancy in bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome
-
Alter B.P., Kumar M., Lockhart L.L., et al. Pregnancy in bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome. Br J Haematol 107 (1999) 49-54
-
(1999)
Br J Haematol
, vol.107
, pp. 49-54
-
-
Alter, B.P.1
Kumar, M.2
Lockhart, L.L.3
-
88
-
-
0035093173
-
Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry
-
Vlachos A., Federman N., Reyes-Haley C., et al. Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Bone Marrow Transplant 27 (2001) 381-386
-
(2001)
Bone Marrow Transplant
, vol.27
, pp. 381-386
-
-
Vlachos, A.1
Federman, N.2
Reyes-Haley, C.3
-
89
-
-
22344441866
-
Bone marrow transplantation for Diamond-Blackfan anemia
-
Roy V., Perez W.S., Eapen M., et al. Bone marrow transplantation for Diamond-Blackfan anemia. Biol Blood Marrow Transplant 11 (2005) 600-608
-
(2005)
Biol Blood Marrow Transplant
, vol.11
, pp. 600-608
-
-
Roy, V.1
Perez, W.S.2
Eapen, M.3
-
90
-
-
29744445266
-
Preimplantation genetics: improving access to stem cell therapy
-
Kuliev A., Rechitsky S., Tur-Kaspa I., et al. Preimplantation genetics: improving access to stem cell therapy. Ann N Y Acad Sci 1054 (2005) 223-227
-
(2005)
Ann N Y Acad Sci
, vol.1054
, pp. 223-227
-
-
Kuliev, A.1
Rechitsky, S.2
Tur-Kaspa, I.3
-
91
-
-
4043130850
-
Preimplantation testing to produce an HLA-matched donor infant
-
author reply 804
-
Wagner J.E., Kahn J.P., Wolf S.M., et al. Preimplantation testing to produce an HLA-matched donor infant. JAMA 292 (2004) 803-804 author reply 804
-
(2004)
JAMA
, vol.292
, pp. 803-804
-
-
Wagner, J.E.1
Kahn, J.P.2
Wolf, S.M.3
-
92
-
-
0032872463
-
Failure of allogeneic bone marrow transplantation to correct Diamond-Blackfan anaemia despite haemopoietic stem cell engraftment
-
Wynn R.F., Grainger J.D., Carr T.F., et al. Failure of allogeneic bone marrow transplantation to correct Diamond-Blackfan anaemia despite haemopoietic stem cell engraftment. Bone Marrow Transplant 24 (1999) 803-805
-
(1999)
Bone Marrow Transplant
, vol.24
, pp. 803-805
-
-
Wynn, R.F.1
Grainger, J.D.2
Carr, T.F.3
-
93
-
-
53749092159
-
Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation
-
Flygare J., Olsson K., Richter J., et al. Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation. Exp Hematol 36 (2008) 1428-1435
-
(2008)
Exp Hematol
, vol.36
, pp. 1428-1435
-
-
Flygare, J.1
Olsson, K.2
Richter, J.3
-
94
-
-
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 92 (2007) e66-e67
-
(2007)
Haematologica
, vol.92
-
-
Pospisilova, D.1
Cmejlova, J.2
Hak, J.3
-
95
-
-
0033808169
-
Leucine stimulates translation initiation in skeletal muscle of postabsorptive rats via a rapamycin-sensitive pathway
-
Anthony J.C., Yoshizawa F., Anthony T.G., et al. Leucine stimulates translation initiation in skeletal muscle of postabsorptive rats via a rapamycin-sensitive pathway. J Nutr 130 (2000) 2413-2419
-
(2000)
J Nutr
, vol.130
, pp. 2413-2419
-
-
Anthony, J.C.1
Yoshizawa, F.2
Anthony, T.G.3
-
96
-
-
60349114320
-
Treacher Collins syndrome: unmasking the role of Tcof1/treacle
-
Sakai D., and Trainor P.A. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol 41 (2009) 1229-1232
-
(2009)
Int J Biochem Cell Biol
, vol.41
, pp. 1229-1232
-
-
Sakai, D.1
Trainor, P.A.2
-
97
-
-
38349088899
-
Identification of RPS14 as a 5q- syndrome gene by RNA interference screen
-
Ebert B.L., Pretz J., Bosco J., et al. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature 451 (2008) 335-339
-
(2008)
Nature
, vol.451
, pp. 335-339
-
-
Ebert, B.L.1
Pretz, J.2
Bosco, J.3
|