Bożena Anna Marszałek-Kruk, Piotr Wójcicki, Robert Smigiel, Wiesław H Trzeciak. J Appl Genet 2012
Times Cited: 6
Times Cited: 6
Times Cited
Times Co-cited
Similarity
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
83
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
Chiara Conte, Maria Rosaria D'Apice, Fabrizio Rinaldi, Stefano Gambardella, Federica Sangiuolo, Giuseppe Novelli. BMC Med Genet 2011
66
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
66
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
Michael Bowman, Michael Oldridge, Caroline Archer, Anthony O'Rourke, Joanna McParland, Roel Brekelmans, Anneke Seller, Tracy Lester. Eur J Hum Genet 2012
Michael Bowman, Michael Oldridge, Caroline Archer, Anthony O'Rourke, Joanna McParland, Roel Brekelmans, Anneke Seller, Tracy Lester. Eur J Hum Genet 2012
66
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
50
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Ozge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, Stefan Böhringer, Beate Albrecht, Angelika Albert, Mine Arslan-Kirchner, Eric Haan, Monika Hagedorn-Greiwe, Christof Hammans,[...]. Eur J Hum Genet 2004
Ozge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, Stefan Böhringer, Beate Albrecht, Angelika Albert, Mine Arslan-Kirchner, Eric Haan, Monika Hagedorn-Greiwe, Christof Hammans,[...]. Eur J Hum Genet 2004
50
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
A Splendore, E O Silva, L G Alonso, A Richieri-Costa, N Alonso, A Rosa, G Carakushanky, D P Cavalcanti, D Brunoni, M R Passos-Bueno. Hum Mutat 2000
A Splendore, E O Silva, L G Alonso, A Richieri-Costa, N Alonso, A Rosa, G Carakushanky, D P Cavalcanti, D Brunoni, M R Passos-Bueno. Hum Mutat 2000
50
Fishing the molecular bases of Treacher Collins syndrome.
Andrea M J Weiner, Nadia L Scampoli, Nora B Calcaterra. PLoS One 2012
Andrea M J Weiner, Nadia L Scampoli, Nora B Calcaterra. PLoS One 2012
50
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.
C Isaac, K L Marsh, W A Paznekas, J Dixon, M J Dixon, E W Jabs, U T Meier. Mol Biol Cell 2000
C Isaac, K L Marsh, W A Paznekas, J Dixon, M J Dixon, E W Jabs, U T Meier. Mol Biol Cell 2000
50
Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.
Rolando B So, Bianca Gonzales, Dale Henning, Jill Dixon, Michael J Dixon, Benigno C Valdez. Gene 2004
Rolando B So, Bianca Gonzales, Dale Henning, Jill Dixon, Michael J Dixon, Benigno C Valdez. Gene 2004
50
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
33
SILAC analysis of oxidative stress-mediated proteins in human pneumocytes: new role for treacle.
Xunbao Duan, Steve G Kelsen, Allen B Clarkson, Rong Ji, Salim Merali. Proteomics 2010
Xunbao Duan, Steve G Kelsen, Allen B Clarkson, Rong Ji, Salim Merali. Proteomics 2010
33
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
33
Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF.
Chen-I Lin, Ning-Hsing Yeh. Biochem Biophys Res Commun 2009
Chen-I Lin, Ning-Hsing Yeh. Biochem Biophys Res Commun 2009
33
Treacher Collins syndrome: etiology, pathogenesis and prevention.
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
33
Treacher Collins syndrome: current evaluation, treatment, and future directions.
J C Posnick, R L Ruiz. Cleft Palate Craniofac J 2000
J C Posnick, R L Ruiz. Cleft Palate Craniofac J 2000
33
The 5S RNP couples p53 homeostasis to ribosome biogenesis and nucleolar stress.
Katherine E Sloan, Markus T Bohnsack, Nicholas J Watkins. Cell Rep 2013
Katherine E Sloan, Markus T Bohnsack, Nicholas J Watkins. Cell Rep 2013
33
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
C A Wise, L C Chiang, W A Paznekas, M Sharma, M M Musy, J A Ashley, M Lovett, E W Jabs. Proc Natl Acad Sci U S A 1997
C A Wise, L C Chiang, W A Paznekas, M Sharma, M M Musy, J A Ashley, M Lovett, E W Jabs. Proc Natl Acad Sci U S A 1997
33
Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, Maria Rita Passos-Bueno. Eur J Hum Genet 2003
Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, Maria Rita Passos-Bueno. Eur J Hum Genet 2003
33
33
TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.
Alessandra Splendore, Roberto D Fanganiello, Cibele Masotti, Lucas S C Morganti, M Rita Passos-Bueno. Hum Mutat 2005
Alessandra Splendore, Roberto D Fanganiello, Cibele Masotti, Lucas S C Morganti, M Rita Passos-Bueno. Hum Mutat 2005
33
Treacher Collins syndrome: perspectives in evaluation and treatment.
J C Posnick. J Oral Maxillofac Surg 1997
J C Posnick. J Oral Maxillofac Surg 1997
33
Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
Daisuke Sakai, Paul A Trainor. Int J Biochem Cell Biol 2009
Daisuke Sakai, Paul A Trainor. Int J Biochem Cell Biol 2009
33
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
Elise Schaefer, Corinne Collet, David Genevieve, Marie Vincent, Dietmar R Lohmann, Elodie Sanchez, Chantal Bolender, Marie-Madeleine Eliot, Gudrun Nürnberg, Maria-Rita Passos-Bueno,[...]. Genet Med 2014
Elise Schaefer, Corinne Collet, David Genevieve, Marie Vincent, Dietmar R Lohmann, Elodie Sanchez, Chantal Bolender, Marie-Madeleine Eliot, Gudrun Nürnberg, Maria-Rita Passos-Bueno,[...]. Genet Med 2014
33
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
. Nat Genet 1996
. Nat Genet 1996
33
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin-Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain,[...]. Genet Med 2016
Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin-Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain,[...]. Genet Med 2016
33
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
Chuan Zhang, Lisha An, Huiqin Xue, Shengju Hao, Yousheng Yan, Qinghua Zhang, Xiaohua Jin, Qian Li, Bingbo Zhou, Xuan Feng,[...]. J Clin Lab Anal 2021
Chuan Zhang, Lisha An, Huiqin Xue, Shengju Hao, Yousheng Yan, Qinghua Zhang, Xiaohua Jin, Qian Li, Bingbo Zhou, Xuan Feng,[...]. J Clin Lab Anal 2021
33
The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus.
S T Winokur, R Shiang. Hum Mol Genet 1998
S T Winokur, R Shiang. Hum Mol Genet 1998
33
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
33
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome.
J Beygo, K Buiting, S Seland, H-J Lüdecke, U Hehr, C Lich, B Prager, D R Lohmann, D Wieczorek. Mol Syndromol 2012
J Beygo, K Buiting, S Seland, H-J Lüdecke, U Hehr, C Lich, B Prager, D R Lohmann, D Wieczorek. Mol Syndromol 2012
33
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
33
TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect.
Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang, Xiaowei Chen. Orphanet J Rare Dis 2019
Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang, Xiaowei Chen. Orphanet J Rare Dis 2019
33
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau-Them, Eric Richard, Alice Goldenberg, Tomi L Toler, Thomas Guignard, Vincent Gatinois, Marie Vincent, Catherine Blanchet,[...]. Genet Med 2020
Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau-Them, Eric Richard, Alice Goldenberg, Tomi L Toler, Thomas Guignard, Vincent Gatinois, Marie Vincent, Catherine Blanchet,[...]. Genet Med 2020
33
A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.
Haisheng Zeng, Mingyu Xie, Jianbo Li, Haoqiang Xie, Xiaomei Lu. Int J Pediatr Otorhinolaryngol 2021
Haisheng Zeng, Mingyu Xie, Jianbo Li, Haoqiang Xie, Xiaomei Lu. Int J Pediatr Otorhinolaryngol 2021
100
Discovery and SAR of 5-(3-chlorophenylamino)benzo[c][2,6]naphthyridine-8-carboxylic acid (CX-4945), the first clinical stage inhibitor of protein kinase CK2 for the treatment of cancer.
Fabrice Pierre, Peter C Chua, Sean E O'Brien, Adam Siddiqui-Jain, Pauline Bourbon, Mustapha Haddach, Jerome Michaux, Johnny Nagasawa, Michael K Schwaebe, Eric Stefan,[...]. J Med Chem 2011
Fabrice Pierre, Peter C Chua, Sean E O'Brien, Adam Siddiqui-Jain, Pauline Bourbon, Mustapha Haddach, Jerome Michaux, Johnny Nagasawa, Michael K Schwaebe, Eric Stefan,[...]. J Med Chem 2011
16
Repression of RNA polymerase I transcription by the tumor suppressor p53.
W Zhai, L Comai. Mol Cell Biol 2000
W Zhai, L Comai. Mol Cell Biol 2000
16
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Bhaswati Pandit, Anna Sarkozy, Len A Pennacchio, Claudio Carta, Kimihiko Oishi, Simone Martinelli, Edgar A Pogna, Wendy Schackwitz, Anna Ustaszewska, Andrew Landstrom,[...]. Nat Genet 2007
Bhaswati Pandit, Anna Sarkozy, Len A Pennacchio, Claudio Carta, Kimihiko Oishi, Simone Martinelli, Edgar A Pogna, Wendy Schackwitz, Anna Ustaszewska, Andrew Landstrom,[...]. Nat Genet 2007
16
Mitotic occupancy and lineage-specific transcriptional control of rRNA genes by Runx2.
Daniel W Young, Mohammad Q Hassan, Jitesh Pratap, Mario Galindo, Sayyed K Zaidi, Suk-hee Lee, Xiaoqing Yang, Ronglin Xie, Amjad Javed, Jean M Underwood,[...]. Nature 2007
Daniel W Young, Mohammad Q Hassan, Jitesh Pratap, Mario Galindo, Sayyed K Zaidi, Suk-hee Lee, Xiaoqing Yang, Ronglin Xie, Amjad Javed, Jean M Underwood,[...]. Nature 2007
16
Interaction between the Cockayne syndrome B and p53 proteins: implications for aging.
Mattia Frontini, Luca Proietti-De-Santis. Aging (Albany NY) 2012
Mattia Frontini, Luca Proietti-De-Santis. Aging (Albany NY) 2012
16
Inhibitors of cell cycle kinases: recent advances and future prospects as cancer therapeutics.
Andrew Stone, Robert L Sutherland, Elizabeth A Musgrove. Crit Rev Oncog 2012
Andrew Stone, Robert L Sutherland, Elizabeth A Musgrove. Crit Rev Oncog 2012
16
Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells.
Shilpee Dutt, Anupama Narla, Katherine Lin, Ann Mullally, Nirmalee Abayasekara, Christine Megerdichian, Frederick H Wilson, Treeve Currie, Arati Khanna-Gupta, Nancy Berliner,[...]. Blood 2011
Shilpee Dutt, Anupama Narla, Katherine Lin, Ann Mullally, Nirmalee Abayasekara, Christine Megerdichian, Frederick H Wilson, Treeve Currie, Arati Khanna-Gupta, Nancy Berliner,[...]. Blood 2011
16
16
Novel indeno[1,2-b]indoloquinones as inhibitors of the human protein kinase CK2 with antiproliferative activity towards a broad panel of cancer cell lines.
Claas Hundsdörfer, Hans-Jörg Hemmerling, Janina Hamberger, Marc Le Borgne, Patrick Bednarski, Claudia Götz, Frank Totzke, Joachim Jose. Biochem Biophys Res Commun 2012
Claas Hundsdörfer, Hans-Jörg Hemmerling, Janina Hamberger, Marc Le Borgne, Patrick Bednarski, Claudia Götz, Frank Totzke, Joachim Jose. Biochem Biophys Res Commun 2012
16
16
Regulation of rDNA transcription by proto-oncogene PELP1.
Vijay K Gonugunta, Binoj C Nair, Rajib Rajhans, Gangadhara R Sareddy, Sujit S Nair, Ratna K Vadlamudi. PLoS One 2011
Vijay K Gonugunta, Binoj C Nair, Rajib Rajhans, Gangadhara R Sareddy, Sujit S Nair, Ratna K Vadlamudi. PLoS One 2011
16
Towards a knowledge-based Human Protein Atlas.
Mathias Uhlen, Per Oksvold, Linn Fagerberg, Emma Lundberg, Kalle Jonasson, Mattias Forsberg, Martin Zwahlen, Caroline Kampf, Kenneth Wester, Sophia Hober,[...]. Nat Biotechnol 2010
Mathias Uhlen, Per Oksvold, Linn Fagerberg, Emma Lundberg, Kalle Jonasson, Mattias Forsberg, Martin Zwahlen, Caroline Kampf, Kenneth Wester, Sophia Hober,[...]. Nat Biotechnol 2010
16
Renal function in diabetic disease models: the tubular system in the pathophysiology of the diabetic kidney.
Volker Vallon, Scott C Thomson. Annu Rev Physiol 2012
Volker Vallon, Scott C Thomson. Annu Rev Physiol 2012
16
Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism.
Deborah Chiabrando, Emanuela Tolosano. Adv Hematol 2010
Deborah Chiabrando, Emanuela Tolosano. Adv Hematol 2010
16
WRN helicase accelerates the transcription of ribosomal RNA as a component of an RNA polymerase I-associated complex.
Miwa Shiratori, Takahisa Suzuki, Chie Itoh, Makoto Goto, Yasuhiro Furuichi, Takehisa Matsumoto. Oncogene 2002
Miwa Shiratori, Takahisa Suzuki, Chie Itoh, Makoto Goto, Yasuhiro Furuichi, Takehisa Matsumoto. Oncogene 2002
16
A deletion within the murine Werner syndrome helicase induces sensitivity to inhibitors of topoisomerase and loss of cellular proliferative capacity.
M Lebel, P Leder. Proc Natl Acad Sci U S A 1998
M Lebel, P Leder. Proc Natl Acad Sci U S A 1998
16
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.