-
1
-
-
0000951515
-
Congenital hypoplasia of the exocrine pancreas
-
Bodian M, Sheldon W, Lightwood R, (1964) Congenital hypoplasia of the exocrine pancreas. Acta Paediatr 53: 282-93.
-
(1964)
Acta Paediatr
, vol.53
, pp. 282-293
-
-
Bodian, M.1
Sheldon, W.2
Lightwood, R.3
-
2
-
-
0000785397
-
The syndrome of pancreatic insufficiency and bone marrow dysfunction
-
Shwachman H, Diamond LK, Oski FA, Khaw KT, (1964) The syndrome of pancreatic insufficiency and bone marrow dysfunction. J.Pediatr 65: 645-663.
-
(1964)
J.Pediatr
, vol.65
, pp. 645-663
-
-
Shwachman, H.1
Diamond, L.K.2
Oski, F.A.3
Khaw, K.T.4
-
3
-
-
0036042153
-
Shwachman-diamond syndrome
-
Dror Y, Freedman MH, Shwachman-diamond syndrome (2002) Br.J Haematol 118: 701-713.
-
(2002)
Br.J Haematol
, vol.118
, pp. 701-713
-
-
Dror, Y.1
Freedman, M.H.2
-
4
-
-
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, 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
-
5
-
-
22044432003
-
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship
-
Kuijpers TW, Alders M, Tool AT, Mellink C, Roos D, et al. (2005) Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. Blood 106: 356-361.
-
(2005)
Blood
, vol.106
, pp. 356-361
-
-
Kuijpers, T.W.1
Alders, M.2
Tool, A.T.3
Mellink, C.4
Roos, D.5
-
6
-
-
1342323569
-
The chemotaxis defect of Shwachman-Diamond Syndrome leukocytes
-
Stepanovic V, Wessels D, Goldman FD, Geiger J, Soll DR, (2004) The chemotaxis defect of Shwachman-Diamond Syndrome leukocytes. Cell Motil.Cytoskeleton 57: 158-174.
-
(2004)
Cell Motil.Cytoskeleton
, vol.57
, pp. 158-174
-
-
Stepanovic, V.1
Wessels, D.2
Goldman, F.D.3
Geiger, J.4
Soll, D.R.5
-
7
-
-
19944430855
-
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group
-
Donadieu J, Leblanc T, Bader MB, Barkaoui M, Fenneteau O, et al. (2005) Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica 90: 45-53.
-
(2005)
Haematologica
, vol.90
, pp. 45-53
-
-
Donadieu, J.1
Leblanc, T.2
Bader, M.B.3
Barkaoui, M.4
Fenneteau, O.5
-
8
-
-
0037229094
-
Mutations in SBDS are associated with Shwachman-Diamond syndrome
-
Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, et al. (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
-
9
-
-
21244435619
-
Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations
-
Kawakami T, Mitsui T, Kanai M, Shirahata E, Sendo D, et al. (2005) Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. Tohoku J Exp.Med 206: 253-259.
-
(2005)
Tohoku J Exp.Med
, vol.206
, pp. 253-259
-
-
Kawakami, T.1
Mitsui, T.2
Kanai, M.3
Shirahata, E.4
Sendo, D.5
-
10
-
-
33745504494
-
Identification of novel mutations in patients with Shwachman-Diamond syndrome
-
Nicolis E, Bonizzato A, Assael BM, Cipolli M, (2005) Identification of novel mutations in patients with Shwachman-Diamond syndrome. Hum.Mutat 25: 410.
-
(2005)
Hum.Mutat
, vol.25
, pp. 410
-
-
Nicolis, E.1
Bonizzato, A.2
Assael, B.M.3
Cipolli, M.4
-
11
-
-
21444446063
-
The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism
-
Savchenko A, Krogan N, Cort Evdokimova E JR, Lew JM, 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 Evdokimova Jr., E.3
Lew, J.M.4
-
12
-
-
21444443081
-
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome
-
Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, et al. (2005) Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. J Biol Chem 280: 19221-19229.
-
(2005)
J Biol Chem
, vol.280
, pp. 19221-19229
-
-
Shammas, C.1
Menne, T.F.2
Hilcenko, C.3
Michell, S.R.4
Goyenechea, B.5
-
13
-
-
34047182008
-
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast
-
Menne TF, Goyenechea B, Sanchez-Puig N, Wong CC, Tonkin LM, et al. (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
-
14
-
-
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 CC, Castilho BA, Zanchin NI, (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
-
15
-
-
23744472548
-
The Shwachman-Diamond SBDS protein localizes to the nucleolus
-
Austin KM, Leary RJ, 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
-
16
-
-
34548864371
-
The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA
-
Ganapathi KA, Austin KM, Lee CS, Dias A, Malsch MM, et al. (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
-
17
-
-
41849120845
-
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome
-
Austin KM, Gupta ML, Coats SA, Tulpule A, Mostoslavsky G, et al. (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
-
18
-
-
70349382867
-
SBDS expression and localization at the mitotic spindle in human myeloid progenitors
-
Orelio C, Verkuijlen P, Geissler J, Van den Berg TK, Kuijpers TW, (2009) SBDS expression and localization at the mitotic spindle in human myeloid progenitors. PLoS.One 4 (9): e7084.
-
(2009)
PLoS.One
, vol.4
, Issue.9
-
-
Orelio, C.1
Verkuijlen, P.2
Geissler, J.3
van den Berg, T.K.4
Kuijpers, T.W.5
-
19
-
-
0033595893
-
How NF-kappaB is activated: the role of the IkappaB kinase (IKK) complex
-
Karin M, (1999) How NF-kappaB is activated: the role of the IkappaB kinase (IKK) complex. Oncogene 18: 6867-6874.
-
(1999)
Oncogene
, vol.18
, pp. 6867-6874
-
-
Karin, M.1
-
20
-
-
0030949463
-
Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC
-
Morin PJ, Sparks AB, Korinek V, Barker N, Clevers H, et al. (1997) Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. Science 275: 1787-1790.
-
(1997)
Science
, vol.275
, pp. 1787-1790
-
-
Morin, P.J.1
Sparks, A.B.2
Korinek, V.3
Barker, N.4
Clevers, H.5
-
22
-
-
0033596124
-
Aberrant rel/nfkb genes and activity in human cancer
-
Rayet B, Gelinas C, (1999) Aberrant rel/nfkb genes and activity in human cancer. Oncogene 18: 6938-6947.
-
(1999)
Oncogene
, vol.18
, pp. 6938-6947
-
-
Rayet, B.1
Gelinas, C.2
-
23
-
-
33846873892
-
Impaired ribosome biogenesis in Diamond-Blackfan anemia
-
Choesmel V, Bacqueville D, Rouquette J, Noaillac-Depeyre J, Fribourg S, et al. (2007) Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood 109: 1275-1283.
-
(2007)
Blood
, vol.109
, pp. 1275-1283
-
-
Choesmel, V.1
Bacqueville, D.2
Rouquette, J.3
Noaillac-Depeyre, J.4
Fribourg, S.5
-
24
-
-
0038383284
-
Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology
-
Da Costa L, Tchernia G, Gascard P, Lo A, Meerpohl J, et al. (2003) Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. Blood 101: 5039-5045.
-
(2003)
Blood
, vol.101
, pp. 5039-5045
-
-
Da Costa, L.1
Tchernia, G.2
Gascard, P.3
Lo, A.4
Meerpohl, J.5
-
25
-
-
33748756680
-
Recent insights into the pathogenesis of Diamond-Blackfan anaemia
-
Gazda HT, Sieff CA, (2006) Recent insights into the pathogenesis of Diamond-Blackfan anaemia. Br.J Haematol 135: 149-157.
-
(2006)
Br.J Haematol
, vol.135
, pp. 149-157
-
-
Gazda, H.T.1
Sieff, C.A.2
-
26
-
-
33748703838
-
Immunohistochemistry predicts nucleophosmin (NPM) mutations in acute myeloid leukemia
-
Falini B, Martelli MP, Bolli N, Bonasso R, Ghia E, et al. (2006) Immunohistochemistry predicts nucleophosmin (NPM) mutations in acute myeloid leukemia. Blood 108: 1999-2005.
-
(2006)
Blood
, vol.108
, pp. 1999-2005
-
-
Falini, B.1
Martelli, M.P.2
Bolli, N.3
Bonasso, R.4
Ghia, E.5
-
27
-
-
33745534443
-
Nucleophosmin and cancer
-
Grisendi S, Mecucci C, Falini B, Pandolfi PP, (2006) Nucleophosmin and cancer. Nat.Rev.Cancer 6: 493-505.
-
(2006)
Nat.Rev.Cancer
, vol.6
, pp. 493-505
-
-
Grisendi, S.1
Mecucci, C.2
Falini, B.3
Pandolfi, P.P.4
-
28
-
-
33645521836
-
Cytoplasmic localization of NPM in myeloid leukemias is dictated by gain-of-function mutations that create a functional nuclear export signal
-
Mariano AR, Colombo E, Luzi L, Martinelli P, Volorio S, et al. (2006) Cytoplasmic localization of NPM in myeloid leukemias is dictated by gain-of-function mutations that create a functional nuclear export signal. Oncogene 25: 4376-4380.
-
(2006)
Oncogene
, vol.25
, pp. 4376-4380
-
-
Mariano, A.R.1
Colombo, E.2
Luzi, L.3
Martinelli, P.4
Volorio, S.5
-
29
-
-
33645731673
-
A dynamic ubiquitin equilibrium couples proteasomal activity to chromatin remodeling
-
Dantuma NP, Groothuis TA, Salomons FA, Neefjes J, (2006) A dynamic ubiquitin equilibrium couples proteasomal activity to chromatin remodeling. J Cell Biol 173: 19-26.
-
(2006)
J Cell Biol
, vol.173
, pp. 19-26
-
-
Dantuma, N.P.1
Groothuis, T.A.2
Salomons, F.A.3
Neefjes, J.4
-
31
-
-
0036300965
-
Ubiquitin-related modifier SUMO1 and nucleocytoplasmic transport
-
Pichler A, Melchior F, (2003) Ubiquitin-related modifier SUMO1 and nucleocytoplasmic transport. Traffic 3: 381-387.
-
(2003)
Traffic
, vol.3
, pp. 381-387
-
-
Pichler, A.1
Melchior, F.2
-
32
-
-
3943099375
-
Protein modification by SUMO
-
Johnson ES, (2004) Protein modification by SUMO. Annu.Rev.Biochem 73: 355-382.
-
(2004)
Annu.Rev.Biochem
, vol.73
, pp. 355-382
-
-
Johnson, E.S.1
-
34
-
-
33846636841
-
The role of SUMO in chromosome segregation
-
Watts FZ, (2007) The role of SUMO in chromosome segregation. Chromosoma 116: 1520.
-
(2007)
Chromosoma
, vol.116
, pp. 1520
-
-
Watts, F.Z.1
-
35
-
-
0030455748
-
A novel ubiquitin-like modification modulates the partitioning of the Ran-GTPase-activating protein RanGAP1 between the cytosol and the nuclear pore complex
-
Matunis MJ, Coutavas E, Blobel G, (1996) A novel ubiquitin-like modification modulates the partitioning of the Ran-GTPase-activating protein RanGAP1 between the cytosol and the nuclear pore complex. J Cell Biol 135: 1457-1470.
-
(1996)
J Cell Biol
, vol.135
, pp. 1457-1470
-
-
Matunis, M.J.1
Coutavas, E.2
Blobel, G.3
-
36
-
-
77649273560
-
Structure, dynamics and RNA ineraction analysis of the human SBDS protein
-
Ferreira de Oliveira J, Sforca ML, Blumenschin TMA, Goldfeder MB, Guimarães BG, et al. (2010) Structure, dynamics and RNA ineraction analysis of the human SBDS protein. J Mol Biol 396: 1053-1069.
-
(2010)
J Mol Biol
, vol.396
, pp. 1053-1069
-
-
Ferreira de Oliveira, J.1
Sforca, M.L.2
Blumenschin, T.M.A.3
Goldfeder, M.B.4
Guimarães, B.G.5
-
37
-
-
67649557492
-
Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein
-
Ng CL, Waterman DG, Koonin EV, Walters AD, Chong JP, et al. (2009) Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein. BMC Struct Biol 9: 32.
-
(2009)
BMC Struct Biol
, vol.9
, pp. 32
-
-
Ng, C.L.1
Waterman, D.G.2
Koonin, E.V.3
Walters, A.D.4
Chong, J.P.5
-
38
-
-
32244439352
-
The Shwachman-Bodian-Diamond syndrome gene encodes an RNA-binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis
-
Wessels D, Srikantha T, Yi S, Kuhl S, Aravind L, et al. (2006) The Shwachman-Bodian-Diamond syndrome gene encodes an RNA-binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis. J Cell Sci 119: 370-379.
-
(2006)
J Cell Sci
, vol.119
, pp. 370-379
-
-
Wessels, D.1
Srikantha, T.2
Yi, S.3
Kuhl, S.4
Aravind, L.5
-
39
-
-
62949240235
-
Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics
-
Orelio C, Kuijpers TW, (2009) Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics. Haematologica 94: 409-413.
-
(2009)
Haematologica
, vol.94
, pp. 409-413
-
-
Orelio, C.1
Kuijpers, T.W.2
-
40
-
-
70350776625
-
Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses
-
Ball HL, Zhang B, Riches JJ, Gandhi R, Li J, et al. (2009) Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses. Hum Mol Genet 18: 3684-95.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3684-3695
-
-
Ball, H.L.1
Zhang, B.2
Riches, J.J.3
Gandhi, R.4
Li, J.5
-
41
-
-
0024966024
-
Major nucleolar proteins shuttle between nucleus and cytoplasm
-
Borer RA, Lehner CF, Eppenberger HM, Nigg EA, (1989) Major nucleolar proteins shuttle between nucleus and cytoplasm. Cell 56: 379-390.
-
(1989)
Cell
, vol.56
, pp. 379-390
-
-
Borer, R.A.1
Lehner, C.F.2
Eppenberger, H.M.3
Nigg, E.A.4
|