-
2
-
-
0030070052
-
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
-
Treacher Collins Syndrome Collaborative Group (1996) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genet., 12, 130-136.
-
(1996)
Nature Genet.
, vol.12
, pp. 130-136
-
-
-
3
-
-
0029814274
-
Treacher Collins syndrome
-
Dixon, M.J. (1996) Treacher Collins syndrome. Hum. Mol. Genet., 5, 1391-1396.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1391-1396
-
-
Dixon, M.J.1
-
4
-
-
0029794933
-
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce an in-frame termination codon into the gene
-
Gladwin, A.J., Dixon, J., Loftus, S.K., Edwards, S.J., Wasmuth, J.J., Hennekam, R.C.M. and Dixon, M.J. (1996) Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce an in-frame termination codon into the gene. Hum. Mol. Genet., 5, 1533-1538.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1533-1538
-
-
Gladwin, A.J.1
Dixon, J.2
Loftus, S.K.3
Edwards, S.J.4
Wasmuth, J.J.5
Hennekam, R.C.M.6
Dixon, M.J.7
-
5
-
-
0031038030
-
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations which create a premature termination codon
-
Edwards, S.J., Gladwin, A.J. and Dixon, M.J. (1997) The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations which create a premature termination codon. Am. J. Hum. Genet., 60, 515-524.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 515-524
-
-
Edwards, S.J.1
Gladwin, A.J.2
Dixon, M.J.3
-
6
-
-
0030903167
-
Identification of the complete coding sequence and genomic organisation of the Treacher Collins syndrome gene
-
Dixon, J., Edwards, S.J., Anderson, I., Brass, A., Scambler, P.J. and Dixon, M.J. (1997) Identification of the complete coding sequence and genomic organisation of the Treacher Collins syndrome gene. Genome Res., 7, 223-234.
-
(1997)
Genome Res.
, vol.7
, pp. 223-234
-
-
Dixon, J.1
Edwards, S.J.2
Anderson, I.3
Brass, A.4
Scambler, P.J.5
Dixon, M.J.6
-
7
-
-
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., Sharma, M., Musy, M.M., Ashley, J.A., Lovett, M. and Jabs, E.W. (1997) TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc. Natl Acad. Sci. USA, 94, 3110-3115.
-
(1997)
Proc. Natl Acad. Sci. USA
, vol.94
, pp. 3110-3115
-
-
Wise, C.A.1
Chiang, L.C.2
Paznekas, W.A.3
Sharma, M.4
Musy, M.M.5
Ashley, J.A.6
Lovett, M.7
Jabs, E.W.8
-
8
-
-
0023645087
-
Substrate specificity determinants for casein kinase II as deduced from studies with synthetic peptides
-
Kuenzel, E.A., Mulligan, J.A., Sommercorn, J. and Krebs, E.G. (1987) Substrate specificity determinants for casein kinase II as deduced from studies with synthetic peptides. J. Biol. Chem., 262, 9136-9140.
-
(1987)
J. Biol. Chem.
, vol.262
, pp. 9136-9140
-
-
Kuenzel, E.A.1
Mulligan, J.A.2
Sommercorn, J.3
Krebs, E.G.4
-
9
-
-
0025949412
-
Nuclear targeting sequences - A consensus?
-
Dingwall, C. and Laskey, R. (1991) Nuclear targeting sequences - a consensus? Trends Biochem. Sci., 16, 478-481.
-
(1991)
Trends Biochem. Sci.
, vol.16
, pp. 478-481
-
-
Dingwall, C.1
Laskey, R.2
-
10
-
-
0024411243
-
Sequence requirements for synthetic peptide-mediated translocation to the nucleus
-
Chelsky, D., Ralph, R. and Jonak, G. (1989) Sequence requirements for synthetic peptide-mediated translocation to the nucleus. Mol. Cell. Biol., 9, 2487-2492.
-
(1989)
Mol. Cell. Biol.
, vol.9
, pp. 2487-2492
-
-
Chelsky, D.1
Ralph, R.2
Jonak, G.3
-
11
-
-
0024966024
-
Major nucleolar proteins shuttle between nucleus and cytoplasm
-
Borer, R.A., Lehner, C.F., Eppenberger, H.M. and Nigg, E.A. (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
-
12
-
-
0026773097
-
Nopp140 shuttles on tracks between nucleolus and cytoplasm
-
Meier, U.T. and Blobel, G. (1992) Nopp140 shuttles on tracks between nucleolus and cytoplasm. Cell, 70, 127-138.
-
(1992)
Cell
, vol.70
, pp. 127-138
-
-
Meier, U.T.1
Blobel, G.2
-
13
-
-
0029050553
-
Cell cycle-dependent alterations of a highly phosphorylated nucleolar protein p130 are associated with nucleologenesis
-
Pai, C-Y., Chen, H.-K., Sheu, H.-L. and Yeh, N.-H. (1995) Cell cycle-dependent alterations of a highly phosphorylated nucleolar protein p130 are associated with nucleologenesis. J. Cell Sci., 108, 1911-1920.
-
(1995)
J. Cell Sci.
, vol.108
, pp. 1911-1920
-
-
Pai, C.-Y.1
Chen, H.-K.2
Sheu, H.-L.3
Yeh, N.-H.4
-
14
-
-
0029084987
-
Identification and cDNA cloning of a Xenopus nucleolar phosphoprotein, xNopp180, that is the homolog of the rat nucleolar protein Nopp140
-
Cairns, C. and McStay, B. (1995) Identification and cDNA cloning of a Xenopus nucleolar phosphoprotein, xNopp180, that is the homolog of the rat nucleolar protein Nopp140. J. Cell Sci., 108, 3339-3347.
-
(1995)
J. Cell Sci.
, vol.108
, pp. 3339-3347
-
-
Cairns, C.1
McStay, B.2
-
15
-
-
0029776366
-
Comparison of the rat nucleolar protein Nopp 140 with its yeast homolog SRP40
-
Meier, U.T. (1996) Comparison of the rat nucleolar protein Nopp 140 with its yeast homolog SRP40. J. Biol. Chem., 271, 19376-19384.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 19376-19384
-
-
Meier, U.T.1
-
16
-
-
0030940878
-
Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1
-
Dixon, J., Hovanes, K., Shiang, R. and Dixon, M.J. (1997) Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. Hum. Mol. Genet., 6, 727-737.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 727-737
-
-
Dixon, J.1
Hovanes, K.2
Shiang, R.3
Dixon, M.J.4
-
17
-
-
0342446581
-
Nucleolin, the major nucleolar protein of growing eukaryotic cells: An unusual protein structure revealed by the nucleotide sequence
-
Lapeyre, B., Bourbon, H. and Amalric, F. (1987) Nucleolin, the major nucleolar protein of growing eukaryotic cells: an unusual protein structure revealed by the nucleotide sequence. Proc. Natl Acad. Sci. USA, 84, 1472-1476.
-
(1987)
Proc. Natl Acad. Sci. USA
, vol.84
, pp. 1472-1476
-
-
Lapeyre, B.1
Bourbon, H.2
Amalric, F.3
-
18
-
-
0025023112
-
Functional and dynamic aspects of the mammalian nucleolus
-
Scheer, U. and Benavente, R. (1990) Functional and dynamic aspects of the mammalian nucleolus. BioEssays, 12, 14-21.
-
(1990)
BioEssays
, vol.12
, pp. 14-21
-
-
Scheer, U.1
Benavente, R.2
-
19
-
-
0025395808
-
Discovery of the nucleolar targeting signal
-
Hatanaka, M. (1990) Discovery of the nucleolar targeting signal. BioEssays, 12, 143-148.
-
(1990)
BioEssays
, vol.12
, pp. 143-148
-
-
Hatanaka, M.1
-
20
-
-
0027941844
-
Identification of the nucleolar targeting signal of human angiogenin
-
Moroianu, J. and Riordan, J.F. (1994) Identification of the nucleolar targeting signal of human angiogenin. Biochem. Biophys. Res. Commun., 203, 1765-1772.
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.203
, pp. 1765-1772
-
-
Moroianu, J.1
Riordan, J.F.2
-
21
-
-
0027297369
-
Protein localization to the nucleolus: A search for targeting domains in nucleolin
-
Schmidt-Zachmann, M.S. and Nigg, E.A. (1993) Protein localization to the nucleolus: a search for targeting domains in nucleolin. J. Cell Sci., 105, 799-806.
-
(1993)
J. Cell Sci.
, vol.105
, pp. 799-806
-
-
Schmidt-Zachmann, M.S.1
Nigg, E.A.2
-
22
-
-
0029984570
-
Nucleocytoplasmic transport
-
Gorlich, D. and Mattaj, I.W. (1996) Nucleocytoplasmic transport. Science, 271, 1513-1518.
-
(1996)
Science
, vol.271
, pp. 1513-1518
-
-
Gorlich, D.1
Mattaj, I.W.2
-
23
-
-
0027376308
-
The GTP-binding protein Ran/TC4 is required for protein import into the nucleus
-
Moore, M.S. and Blobel, G. (1993) The GTP-binding protein Ran/TC4 is required for protein import into the nucleus. Nature, 365, 661-663.
-
(1993)
Nature
, vol.365
, pp. 661-663
-
-
Moore, M.S.1
Blobel, G.2
-
24
-
-
0027177717
-
Nonsense mutations and diminished mRNA levels
-
McIntosh, I., Hamosh, A. and Dietz, H.C. (1993) Nonsense mutations and diminished mRNA levels. Nature Genet., 4, 219.
-
(1993)
Nature Genet.
, vol.4
, pp. 219
-
-
McIntosh, I.1
Hamosh, A.2
Dietz, H.C.3
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