-
1
-
-
1242273630
-
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS
-
Makitie, O., Ellis, L., Durie, P.R., Morrison, J.A., Sochett, E.B., Rommens, J.M. and Cole, W.G. (2004) Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin. Genet., 65, 101-112.
-
(2004)
Clin. Genet.
, vol.65
, pp. 101-112
-
-
Makitie, O.1
Ellis, L.2
Durie, P.R.3
Morrison, J.A.4
Sochett, E.B.5
Rommens, J.M.6
Cole, W.G.7
-
2
-
-
27644511287
-
Shwachman-Diamond syndrome
-
Dror, Y. (2005) Shwachman-Diamond syndrome. Pediatr. Blood Cancer, 45, 892-901.
-
(2005)
Pediatr. Blood Cancer
, vol.45
, pp. 892-901
-
-
Dror, Y.1
-
3
-
-
0033497428
-
Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar
-
Ginzberg, H., Shin, J., Ellis, L., Morrison, J., Ip, W., Dror, Y., Freedman, M., Heitlinger, L.A., Belt, M.A., Corey, M. et al. (1999) Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J. Pediatr., 135, 81-88.
-
(1999)
J. Pediatr.
, vol.135
, pp. 81-88
-
-
Ginzberg, H.1
Shin, J.2
Ellis, L.3
Morrison, J.4
Ip, W.5
Dror, Y.6
Freedman, M.7
Heitlinger, L.A.8
Belt, M.A.9
Corey, M.10
-
4
-
-
0037229094
-
Mutations in SBDS are associated with Shwachman-Diamond syndrome
-
Boocock, G.R., Morrison, J.A., Popovic, M., Richards, N., Ellis, L., Durie, P.R. and Rommens, J.M. (2003) Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat. Genet., 33, 97-101.
-
(2003)
Nat. Genet.
, vol.33
, pp. 97-101
-
-
Boocock, G.R.1
Morrison, J.A.2
Popovic, M.3
Richards, N.4
Ellis, L.5
Durie, P.R.6
Rommens, J.M.7
-
5
-
-
33747786334
-
Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality
-
Zhang, S., Shi, M., Hui, C.C. and Rommens, J.M. (2006) Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality. Mol. Cell. Biol., 26, 6656-6663.
-
(2006)
Mol. Cell. Biol.
, vol.26
, pp. 6656-6663
-
-
Zhang, S.1
Shi, M.2
Hui, C.C.3
Rommens, J.M.4
-
6
-
-
0036325553
-
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study
-
Dror, Y., Durie, P., Ginzberg, H., Herman, R., Banerjee, A., Champagne, M., Shannon, K., Malkin, D. and Freedman, M.H. (2002) Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. Exp. Hematol., 30, 659-669.
-
(2002)
Exp. Hematol.
, vol.30
, pp. 659-669
-
-
Dror, Y.1
Durie, P.2
Ginzberg, H.3
Herman, R.4
Banerjee, A.5
Champagne, M.6
Shannon, K.7
Malkin, D.8
Freedman, M.H.9
-
7
-
-
33644755462
-
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/ neoplasia through karyotype instability and chromosomes 7 and 20 anomalies
-
Maserati, E., Minelli, A., Pressato, B., Valli, R., Crescenzi, B., Stefanelli, M., Menna, G., Sainati, L., Poli, F., Panarello, C. et al. (2006) Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/ neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes Chromosomes Cancer, 45, 375-382.
-
(2006)
Genes Chromosomes Cancer
, vol.45
, pp. 375-382
-
-
Maserati, E.1
Minelli, A.2
Pressato, B.3
Valli, R.4
Crescenzi, B.5
Stefanelli, M.6
Menna, G.7
Sainati, L.8
Poli, F.9
Panarello, C.10
-
8
-
-
63449134714
-
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies
-
Maserati, E., Pressato, B., Valli, R., Minelli, A., Sainati, L., Patitucci, F., Marletta, C., Mastronuzzi, A., Poli, F., Lo Curto, F. et al. (2009) The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies. Br. J. Haematol., 145, 190-197.
-
(2009)
Br. J. Haematol.
, vol.145
, pp. 190-197
-
-
Maserati, E.1
Pressato, B.2
Valli, R.3
Minelli, A.4
Sainati, L.5
Patitucci, F.6
Marletta, C.7
Mastronuzzi, A.8
Poli, F.9
Lo Curto, F.10
-
9
-
-
0036826353
-
P53 protein overexpression in Shwachman-Diamond syndrome
-
Dror, Y. (2002) P53 protein overexpression in Shwachman-Diamond syndrome. Arch. Pathol. Lab Med., 126, 1157-1158.
-
(2002)
Arch. Pathol. Lab Med.
, vol.126
, pp. 1157-1158
-
-
Dror, Y.1
-
10
-
-
0036218638
-
p53 protein overexpression in bone marrow biopsies of patients with Shwachman-Diamond syndrome has a prevalence similar to that of patients with refractory anemia
-
Elghetany, M.T. and Alter, B.P. (2002) p53 protein overexpression in bone marrow biopsies of patients with Shwachman-Diamond syndrome has a prevalence similar to that of patients with refractory anemia. Arch. Pathol. Lab. Med., 126, 452-455.
-
(2002)
Arch. Pathol. Lab. Med.
, vol.126
, pp. 452-455
-
-
Elghetany, M.T.1
Alter, B.P.2
-
11
-
-
34047182008
-
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast
-
Menne, T.F., Goyenechea, B., Sanchez-Puig, N., Wong, C.C., Tonkin, L.M., Ancliff, P.J., Brost, R.L., Costanzo, M., Boone, C. and Warren, A.J. (2007) The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat. Genet., 39, 486-495.
-
(2007)
Nat. Genet.
, vol.39
, pp. 486-495
-
-
Menne, T.F.1
Goyenechea, B.2
Sanchez-Puig, N.3
Wong, C.C.4
Tonkin, L.M.5
Ancliff, P.J.6
Brost, R.L.7
Costanzo, M.8
Boone, C.9
Warren, A.J.10
-
12
-
-
33645453254
-
Global landscape of protein complexes in the yeast Saccharomyces cerevisiae
-
Krogan, N.J., Cagney, G., Yu, H., Zhong, G., Guo, X., Ignatchenko, A., Li, J., Pu, S., Datta, N., Tikuisis, A.P. et al. (2006) Global landscape of protein complexes in the yeast Saccharomyces cerevisiae. Nature, 440, 637-643.
-
(2006)
Nature
, vol.440
, pp. 637-643
-
-
Krogan, N.J.1
Cagney, G.2
Yu, H.3
Zhong, G.4
Guo, X.5
Ignatchenko, A.6
Li, J.7
Pu, S.8
Datta, N.9
Tikuisis, A.P.10
-
13
-
-
21444446063
-
The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism
-
Savchenko, A., Krogan, N., Cort, J.R., Evdokimova, E., Lew, J.M., Yee, A.A., Sanchez-Pulido, L., Andrade, M.A., Bochkarev, A., Watson, J.D. et al. (2005) The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J. Biol. Chem., 280, 19213-19220.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 19213-19220
-
-
Savchenko, A.1
Krogan, N.2
Cort, J.R.3
Evdokimova, E.4
Lew, J.M.5
Yee, A.A.6
Sanchez-Pulido, L.7
Andrade, M.A.8
Bochkarev, A.9
Watson, J.D.10
-
14
-
-
57949098126
-
Depletion of the Shwachman-Diamond syndrome gene product, SBDS, leads to growth inhibition and increased expression of OPG and VEGF-A
-
Nihrane, A., Sezgin, G., Dsilva, S., Dellorusso, P., Yamamoto, K., Ellis, S.R. and Liu, J.M. (2009) Depletion of the Shwachman-Diamond syndrome gene product, SBDS, leads to growth inhibition and increased expression of OPG and VEGF-A. Blood Cells Mol. Dis., 42, 85-91.
-
(2009)
Blood Cells Mol. Dis.
, vol.42
, pp. 85-91
-
-
Nihrane, A.1
Sezgin, G.2
Dsilva, S.3
Dellorusso, P.4
Yamamoto, K.5
Ellis, S.R.6
Liu, J.M.7
-
15
-
-
34948893469
-
Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential
-
Rawls, A.S., Gregory, A.D., Woloszynek, J.R., Liu, F. and Link, D.C. (2007) Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential. Blood, 110, 2414-2422.
-
(2007)
Blood
, vol.110
, pp. 2414-2422
-
-
Rawls, A.S.1
Gregory, A.D.2
Woloszynek, J.R.3
Liu, F.4
Link, D.C.5
-
16
-
-
36049032791
-
The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels
-
Hesling, C., Oliveira, C.C., Castilho, B.A. and Zanchin, N.I. (2007) The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels. Exp. Cell Res., 313, 4180-4195.
-
(2007)
Exp. Cell Res.
, vol.313
, pp. 4180-4195
-
-
Hesling, C.1
Oliveira, C.C.2
Castilho, B.A.3
Zanchin, N.I.4
-
17
-
-
33947219496
-
Shwachman-Diamond syndrome is not necessary for the terminal maturation of neutrophils but is important for maintaining viability of granulocyte precursors
-
Yamaguchi, M., Fujimura, K., Toga, H., Khwaja, A., Okamura, N. and Chopra, R. (2007) Shwachman-Diamond syndrome is not necessary for the terminal maturation of neutrophils but is important for maintaining viability of granulocyte precursors. Exp. Hematol, 35, 579-586.
-
(2007)
Exp. Hematol
, vol.35
, pp. 579-586
-
-
Yamaguchi, M.1
Fujimura, K.2
Toga, H.3
Khwaja, A.4
Okamura, N.5
Chopra, R.6
-
18
-
-
41849120845
-
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome
-
Austin, K.M., Gupta, M.L., Coats, S.A., Tulpule, A., Mostoslavsky, G., Balazs, A.B., Mulligan, R.C., Daley, G., Pellman, D. and Shimamura, A. (2008) Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J. Clin. Invest., 118, 1511-1518.
-
(2008)
J. Clin. Invest.
, vol.118
, pp. 1511-1518
-
-
Austin, K.M.1
Gupta, M.L.2
Coats, S.A.3
Tulpule, A.4
Mostoslavsky, G.5
Balazs, A.B.6
Mulligan, R.C.7
Daley, G.8
Pellman, D.9
Shimamura, A.10
-
19
-
-
40849145448
-
SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway
-
Rujkijyanont, P., Watanabe, K., Ambekar, C., Wang, H., Schimmer, A., Beyene, J. and Dror, Y. (2008) SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway. Haematologica, 93, 363-371.
-
(2008)
Haematologica
, vol.93
, pp. 363-371
-
-
Rujkijyanont, P.1
Watanabe, K.2
Ambekar, C.3
Wang, H.4
Schimmer, A.5
Beyene, J.6
Dror, Y.7
-
20
-
-
0141742293
-
PANTHER: a library of protein families and subfamilies indexed by function
-
Thomas, P.D., Campbell, M.J., Kejariwal, A., Mi, H., Karlak, B., Daverman, R., Diemer, K., Muruganujan, A. and Narechania, A. (2003) PANTHER: a library of protein families and subfamilies indexed by function. Genome Res., 13, 2129-2141.
-
(2003)
Genome Res.
, vol.13
, pp. 2129-2141
-
-
Thomas, P.D.1
Campbell, M.J.2
Kejariwal, A.3
Mi, H.4
Karlak, B.5
Daverman, R.6
Diemer, K.7
Muruganujan, A.8
Narechania, A.9
-
21
-
-
34548864371
-
The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA
-
Ganapathi, K.A., Austin, K.M., Lee, C.S., Dias, A., Malsch, M.M., Reed, R. and Shimamura, A. (2007) The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood, 110, 1458-1465.
-
(2007)
Blood
, vol.110
, pp. 1458-1465
-
-
Ganapathi, K.A.1
Austin, K.M.2
Lee, C.S.3
Dias, A.4
Malsch, M.M.5
Reed, R.6
Shimamura, A.7
-
22
-
-
0033428710
-
Cell cycle-dependent regulation of the DNA-dependent protein kinase
-
Nilsson, A., Sirzen, F., Lewensohn, R., Wang, N. and Skog, S. (1999) Cell cycle-dependent regulation of the DNA-dependent protein kinase. Cell Prolif., 32, 239-248.
-
(1999)
Cell Prolif.
, vol.32
, pp. 239-248
-
-
Nilsson, A.1
Sirzen, F.2
Lewensohn, R.3
Wang, N.4
Skog, S.5
-
23
-
-
33749608829
-
Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene
-
Erdos, M., Alapi, K., Balogh, I., Oroszlan, G., Rakoczi, E., Sumegi, J. and Marodi, L. (2006) Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. Exp. Hematol., 34, 1517-1521.
-
(2006)
Exp. Hematol.
, vol.34
, pp. 1517-1521
-
-
Erdos, M.1
Alapi, K.2
Balogh, I.3
Oroszlan, G.4
Rakoczi, E.5
Sumegi, J.6
Marodi, L.7
-
24
-
-
38849143286
-
Inhibition of endoplasmic reticulum stress-induced apoptosis of melanoma cells by the ARC protein
-
Chen, L.H., Jiang, C.C., Watts, R., Thorne, R.F., Kiejda, K.A., Zhang, X.D. and Hersey, P. (2008) Inhibition of endoplasmic reticulum stress-induced apoptosis of melanoma cells by the ARC protein. Cancer Res., 68, 834-842.
-
(2008)
Cancer Res.
, vol.68
, pp. 834-842
-
-
Chen, L.H.1
Jiang, C.C.2
Watts, R.3
Thorne, R.F.4
Kiejda, K.A.5
Zhang, X.D.6
Hersey, P.7
-
25
-
-
0024233051
-
Mechanism of action of antitumor drug etoposide: a review
-
van Maanen, J.M., Retel, J., de Vries, J. and Pinedo, H.M. (1988) Mechanism of action of antitumor drug etoposide: a review. J. Natl Cancer Inst., 80, 1526-1533.
-
(1988)
J. Natl Cancer Inst.
, vol.80
, pp. 1526-1533
-
-
van Maanen, J.M.1
Retel, J.2
de Vries, J.3
Pinedo, H.M.4
-
26
-
-
0026778383
-
Mechanism of action of hydroxyurea
-
Yarbro, J.W. (1992) Mechanism of action of hydroxyurea. Semin. Oncol., 19, 1-10.
-
(1992)
Semin. Oncol.
, vol.19
, pp. 1-10
-
-
Yarbro, J.W.1
-
27
-
-
0033602179
-
Phosphorylation of p53 protein in response to ionizing radiation occurs at multiple sites in both normal and DNA-PK deficient cells
-
Abraham, J., Spaner, D. and Benchimol, S. (1999) Phosphorylation of p53 protein in response to ionizing radiation occurs at multiple sites in both normal and DNA-PK deficient cells. Oncogene, 18, 1521-1527.
-
(1999)
Oncogene
, vol.18
, pp. 1521-1527
-
-
Abraham, J.1
Spaner, D.2
Benchimol, S.3
-
28
-
-
0031961688
-
Regulation of translational initiation during cellular responses to stress
-
Brostrom, C.O. and Brostrom, M.A. (1998) Regulation of translational initiation during cellular responses to stress. Prog. Nucleic Acid Res. Mol. Biol., 58, 79-125.
-
(1998)
Prog. Nucleic Acid Res. Mol. Biol.
, vol.58
, pp. 79-125
-
-
Brostrom, C.O.1
Brostrom, M.A.2
-
29
-
-
0018569231
-
Effect of protein synthesis inhibitors and low concentrations of actinomycin D on ribosomal RNA synthesis
-
Iapalucci-Espinoza, S. and Franze-Fernandez, M.T. (1979) Effect of protein synthesis inhibitors and low concentrations of actinomycin D on ribosomal RNA synthesis. FEBS Lett., 107, 281-284.
-
(1979)
FEBS Lett.
, vol.107
, pp. 281-284
-
-
Iapalucci-Espinoza, S.1
Franze-Fernandez, M.T.2
-
30
-
-
0346243923
-
Release of eIF6 (p27BBP) from the 60S subunit allows 80S ribosome assembly
-
Ceci, M., Gaviraghi, C., Gorrini, C., Sala, L.A., Offenhauser, N., Marchisio, P.C. and Biffo, S. (2003) Release of eIF6 (p27BBP) from the 60S subunit allows 80S ribosome assembly. Nature, 426, 579-584.
-
(2003)
Nature
, vol.426
, pp. 579-584
-
-
Ceci, M.1
Gaviraghi, C.2
Gorrini, C.3
Sala, L.A.4
Offenhauser, N.5
Marchisio, P.C.6
Biffo, S.7
-
31
-
-
23744472548
-
The Shwachman-Diamond SBDS protein localizes to the nucleolus
-
Austin, K.M., Leary, R.J. and Shimamura, A. (2005) The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood, 106, 1253-1258.
-
(2005)
Blood
, vol.106
, pp. 1253-1258
-
-
Austin, K.M.1
Leary, R.J.2
Shimamura, A.3
-
32
-
-
0037363075
-
Does the ribosome translate cancer?
-
Ruggero, D. and Pandolfi, P.P. (2003) Does the ribosome translate cancer? Nat. Rev. Cancer, 3, 179-192.
-
(2003)
Nat. Rev. Cancer
, vol.3
, pp. 179-192
-
-
Ruggero, D.1
Pandolfi, P.P.2
-
33
-
-
0344011603
-
Disruption of the nucleolus mediates stabilization of p53 in response to DNA damage and other stresses
-
Rubbi, C.P. and Milner, J. (2003) Disruption of the nucleolus mediates stabilization of p53 in response to DNA damage and other stresses. EMBO J., 22, 6068-6077.
-
(2003)
EMBO J.
, vol.22
, pp. 6068-6077
-
-
Rubbi, C.P.1
Milner, J.2
-
34
-
-
3242882820
-
PI 3-kinase related kinases: 'big' players in stress-induced signaling pathways
-
Abraham, R.T. (2004) PI 3-kinase related kinases: 'big' players in stress-induced signaling pathways. DNA Repair (Amst), 3, 883-887.
-
(2004)
DNA Repair (Amst)
, vol.3
, pp. 883-887
-
-
Abraham, R.T.1
-
35
-
-
34250899722
-
Signal integration in the endoplasmic reticulum unfolded protein response
-
Ron, D. and Walter, P. (2007) Signal integration in the endoplasmic reticulum unfolded protein response. Nat. Rev. Mol. Cell Biol., 8, 519-529.
-
(2007)
Nat. Rev. Mol. Cell Biol.
, vol.8
, pp. 519-529
-
-
Ron, D.1
Walter, P.2
-
36
-
-
0029644596
-
Method to correlate tandem mass spectra of modified peptides to amino acid sequences in the protein database
-
Yates, J.R. III, Eng, J.K., McCormack, A.L. and Schieltz, D. (1995) Method to correlate tandem mass spectra of modified peptides to amino acid sequences in the protein database. Anal. Chem., 67, 1426-1436.
-
(1995)
Anal. Chem.
, vol.67
, pp. 1426-1436
-
-
Yates III, J.R.1
Eng, J.K.2
McCormack, A.L.3
Schieltz, D.4
-
37
-
-
0003402804
-
An Introduction to Generalized Linear Models
-
2nd edn. Chapman and Hall/CRC, London
-
Dobson, A.J. (2001) An Introduction to Generalized Linear Models. 2nd edn. Chapman and Hall/CRC, London.
-
(2001)
-
-
Dobson, A.J.1
-
38
-
-
60849130139
-
Comparative temporal proteomics of a response regulator (SO2426)-deficient strain and wild-type Shewanella oneidensis MR-1 during chromate transformation
-
Chourey, K., Thompson, M.R., Shah, M., Zhang, B., Verberkmoes, N.C., Thompson, D.K. and Hettich, R.L. (2009) Comparative temporal proteomics of a response regulator (SO2426)-deficient strain and wild-type Shewanella oneidensis MR-1 during chromate transformation. J. Proteome Res., 8, 59-71.
-
(2009)
J. Proteome Res.
, vol.8
, pp. 59-71
-
-
Chourey, K.1
Thompson, M.R.2
Shah, M.3
Zhang, B.4
Verberkmoes, N.C.5
Thompson, D.K.6
Hettich, R.L.7
-
39
-
-
0001677717
-
Controlling the false discovery rate: a practical and powerful approach to multiple testing
-
Benjamini, Y. and Hochberg, Y. (1995) Controlling the false discovery rate: a practical and powerful approach to multiple testing. J.R. Statist. Soc. B, 57, 289-300.
-
(1995)
J.R. Statist. Soc. B
, vol.57
, pp. 289-300
-
-
Benjamini, Y.1
Hochberg, Y.2
-
40
-
-
0242490780
-
Cytoscape: a software environment for integrated models of biomolecular interaction networks
-
Shannon, P., Markiel, A., Ozier, O., Baliga, N.S., Wang, J.T., Ramage, D., Amin, N., Schwikowski, B. and Ideker, T. (2003) Cytoscape: a software environment for integrated models of biomolecular interaction networks. Genome Res., 13, 2498-2504.
-
(2003)
Genome Res.
, vol.13
, pp. 2498-2504
-
-
Shannon, P.1
Markiel, A.2
Ozier, O.3
Baliga, N.S.4
Wang, J.T.5
Ramage, D.6
Amin, N.7
Schwikowski, B.8
Ideker, T.9
|