Xunbao Duan, Steve G Kelsen, Allen B Clarkson, Rong Ji, Salim Merali. Proteomics 2010
Times Cited: 18
Times Cited: 18
Times Cited
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The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.
Benigno C Valdez, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon. Proc Natl Acad Sci U S A 2004
Benigno C Valdez, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon. Proc Natl Acad Sci U S A 2004
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Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities.
Jill Dixon, Natalie C Jones, Lisa L Sandell, Sachintha M Jayasinghe, Jennifer Crane, Jean-Philippe Rey, Michael J Dixon, Paul A Trainor. Proc Natl Acad Sci U S A 2006
Jill Dixon, Natalie C Jones, Lisa L Sandell, Sachintha M Jayasinghe, Jennifer Crane, Jean-Philippe Rey, Michael J Dixon, Paul A Trainor. Proc Natl Acad Sci U S A 2006
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Johannes G Dauwerse, Jill Dixon, Saskia Seland, Claudia A L Ruivenkamp, Arie van Haeringen, Lies H Hoefsloot, Dorien J M Peters, Agnes Clement-de Boers, Cornelia Daumer-Haas, Robert Maiwald,[...]. Nat Genet 2011
Johannes G Dauwerse, Jill Dixon, Saskia Seland, Claudia A L Ruivenkamp, Arie van Haeringen, Lies H Hoefsloot, Dorien J M Peters, Agnes Clement-de Boers, Cornelia Daumer-Haas, Robert Maiwald,[...]. Nat Genet 2011
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Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.
Natalie C Jones, Megan L Lynn, Karin Gaudenz, Daisuke Sakai, Kazushi Aoto, Jean-Phillipe Rey, Earl F Glynn, Lacey Ellington, Chunying Du, Jill Dixon,[...]. Nat Med 2008
Natalie C Jones, Megan L Lynn, Karin Gaudenz, Daisuke Sakai, Kazushi Aoto, Jean-Phillipe Rey, Earl F Glynn, Lacey Ellington, Chunying Du, Jill Dixon,[...]. Nat Med 2008
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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
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Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response.
Alberto Ciccia, Jen-Wei Huang, Lior Izhar, Mathew E Sowa, J Wade Harper, Stephen J Elledge. Proc Natl Acad Sci U S A 2014
Alberto Ciccia, Jen-Wei Huang, Lior Izhar, Mathew E Sowa, J Wade Harper, Stephen J Elledge. Proc Natl Acad Sci U S A 2014
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Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells.
Daisuke Sakai, Jill Dixon, Michael J Dixon, Paul A Trainor. PLoS Genet 2012
Daisuke Sakai, Jill Dixon, Michael J Dixon, Paul A Trainor. PLoS Genet 2012
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Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle.
Jill Dixon, Michael James Dixon. Dev Dyn 2004
Jill Dixon, Michael James Dixon. Dev Dyn 2004
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Treacher Collins syndrome: etiology, pathogenesis and prevention.
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
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Disruption of the nucleolus mediates stabilization of p53 in response to DNA damage and other stresses.
Carlos P Rubbi, Jo Milner. EMBO J 2003
Carlos P Rubbi, Jo Milner. EMBO J 2003
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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.
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The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.
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Stable isotope labeling by amino acids in cell culture, SILAC, as a simple and accurate approach to expression proteomics.
Shao-En Ong, Blagoy Blagoev, Irina Kratchmarova, Dan Bach Kristensen, Hanno Steen, Akhilesh Pandey, Matthias Mann. Mol Cell Proteomics 2002
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Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
Chiara Conte, Maria Rosaria D'Apice, Fabrizio Rinaldi, Stefano Gambardella, Federica Sangiuolo, Giuseppe Novelli. BMC Med Genet 2011
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The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
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Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation.
Daisuke Sakai, Jill Dixon, Annita Achilleos, Michael Dixon, Paul A Trainor. Nat Commun 2016
Daisuke Sakai, Jill Dixon, Annita Achilleos, Michael Dixon, Paul A Trainor. Nat Commun 2016
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Face off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development.
Daisuke Sakai, Paul A Trainor. Dev Growth Differ 2016
Daisuke Sakai, Paul A Trainor. Dev Growth Differ 2016
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Stable isotope labeling by amino acids in cell culture (SILAC) and quantitative comparison of the membrane proteomes of self-renewing and differentiating human embryonic stem cells.
Tatyana A Prokhorova, Kristoffer T G Rigbolt, Pia T Johansen, Jeanette Henningsen, Irina Kratchmarova, Moustapha Kassem, Blagoy Blagoev. Mol Cell Proteomics 2009
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Multiplexed protein quantitation in Saccharomyces cerevisiae using amine-reactive isobaric tagging reagents.
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A perspective on the use of iTRAQ reagent technology for protein complex and profiling studies.
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Super-SILAC mix for quantitative proteomics of human tumor tissue.
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Quantitative cancer proteomics: stable isotope labeling with amino acids in cell culture (SILAC) as a tool for prostate cancer research.
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Application of the SILAC (stable isotope labelling with amino acids in cell culture) technique in quantitative comparisons for tissue proteome expression.
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Regulation of polyamine metabolism by translational control.
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Mammalian polyamine catabolism: a therapeutic target, a pathological problem, or both?
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Genetically altered expression of spermidine/spermine N1-acetyltransferase affects fat metabolism in mice via acetyl-CoA.
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Activation of polyamine catabolism profoundly alters tissue polyamine pools and affects hair growth and female fertility in transgenic mice overexpressing spermidine/spermine N1-acetyltransferase.
M Pietilä, L Alhonen, M Halmekytö, P Kanter, J Jänne, C W Porter. J Biol Chem 1997
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Repression of RNA polymerase I transcription by the tumor suppressor p53.
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The ATM repair pathway inhibits RNA polymerase I transcription in response to chromosome breaks.
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mTOR-dependent regulation of ribosomal gene transcription requires S6K1 and is mediated by phosphorylation of the carboxy-terminal activation domain of the nucleolar transcription factor UBF.
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Ribosomopathies: human disorders of ribosome dysfunction.
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Cohesin proteins promote ribosomal RNA production and protein translation in yeast and human cells.
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Anticancer activity of CX-3543: a direct inhibitor of rRNA biogenesis.
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Suprainduction of p53 by disruption of 40S and 60S ribosome biogenesis leads to the activation of a novel G2/M checkpoint.
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Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.
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mTOR-dependent activation of the transcription factor TIF-IA links rRNA synthesis to nutrient availability.
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The transcriptional activity of RNA polymerase I is a key determinant for the level of all ribosome components.
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Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF.
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The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Ψ1191 in yeast 18S rRNA.
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A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle.
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Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome.
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Proteomic analysis of oxidative stress-responsive proteins in human pneumocytes: insight into the regulation of DJ-1 expression.
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DHODH modulates transcriptional elongation in the neural crest and melanoma.
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The mandibulofacial dysostosis; a new hereditary syndrome.
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Exome sequencing identifies the cause of a mendelian disorder.
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High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
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