Sameep Kadakia, Samuel N Helman, Arvind K Badhey, Masoud Saman, Yadranko Ducic. Int J Pediatr Otorhinolaryngol 2014
Times Cited: 41
Times Cited: 41
Times Cited
Times Co-cited
Similarity
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
36
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
36
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
34
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
19
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
29
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
19
The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.
Kristin E Noack Watt, Annita Achilleos, Cynthia L Neben, Amy E Merrill, Paul A Trainor. PLoS Genet 2016
Kristin E Noack Watt, Annita Achilleos, Cynthia L Neben, Amy E Merrill, Paul A Trainor. PLoS Genet 2016
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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
21
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
17
Facial dysostoses: Etiology, pathogenesis and management.
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
14
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
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14
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
14
Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model.
Marco Chi Chung Lau, Ernest Man Lok Kwong, Keng Po Lai, Jing-Woei Li, Jeff Cheuk Hin Ho, Ting-Fung Chan, Chris Kong Chu Wong, Yun-Jin Jiang, William Ka Fai Tse. Biochim Biophys Acta 2016
Marco Chi Chung Lau, Ernest Man Lok Kwong, Keng Po Lai, Jing-Woei Li, Jeff Cheuk Hin Ho, Ting-Fung Chan, Chris Kong Chu Wong, Yun-Jin Jiang, William Ka Fai Tse. Biochim Biophys Acta 2016
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Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.
Raul G Plomp, Manouk J S van Lieshout, Koen F M Joosten, Eppo B Wolvius, Marc P van der Schroeff, Sarah L Versnel, René M L Poublon, Irene M J Mathijssen. Plast Reconstr Surg 2016
Raul G Plomp, Manouk J S van Lieshout, Koen F M Joosten, Eppo B Wolvius, Marc P van der Schroeff, Sarah L Versnel, René M L Poublon, Irene M J Mathijssen. Plast Reconstr Surg 2016
15
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
14
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
12
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.
Kelly A McGowan, Jun Z Li, Christopher Y Park, Veronica Beaudry, Holly K Tabor, Amit J Sabnis, Weibin Zhang, Helmut Fuchs, Martin Hrabé de Angelis, Richard M Myers,[...]. Nat Genet 2008
Kelly A McGowan, Jun Z Li, Christopher Y Park, Veronica Beaudry, Holly K Tabor, Amit J Sabnis, Weibin Zhang, Helmut Fuchs, Martin Hrabé de Angelis, Richard M Myers,[...]. Nat Genet 2008
12
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
12
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
12
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
15
Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome.
Francisco Rosa, Miguel Bebiano Coutinho, João Pinto Ferreira, Cecilia Almeida Sousa. Acta Otorrinolaringol Esp 2016
Francisco Rosa, Miguel Bebiano Coutinho, João Pinto Ferreira, Cecilia Almeida Sousa. Acta Otorrinolaringol Esp 2016
62
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
12
Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family.
Nadia Danilova, Kathleen M Sakamoto, Shuo Lin. Blood 2008
Nadia Danilova, Kathleen M Sakamoto, Shuo Lin. Blood 2008
9
Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours.
L A Donehower, M Harvey, B L Slagle, M J McArthur, C A Montgomery, J S Butel, A Bradley. Nature 1992
L A Donehower, M Harvey, B L Slagle, M J McArthur, C A Montgomery, J S Butel, A Bradley. Nature 1992
9
Robin sequence: from diagnosis to development of an effective management plan.
Kelly N Evans, Kathleen C Sie, Richard A Hopper, Robin P Glass, Anne V Hing, Michael L Cunningham. Pediatrics 2011
Kelly N Evans, Kathleen C Sie, Richard A Hopper, Robin P Glass, Anne V Hing, Michael L Cunningham. Pediatrics 2011
9
Cleft lip and palate: understanding genetic and environmental influences.
Michael J Dixon, Mary L Marazita, Terri H Beaty, Jeffrey C Murray. Nat Rev Genet 2011
Michael J Dixon, Mary L Marazita, Terri H Beaty, Jeffrey C Murray. Nat Rev Genet 2011
9
Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.
Jeffrey M Lipton, Steven R Ellis. Hematol Oncol Clin North Am 2009
Jeffrey M Lipton, Steven R Ellis. Hematol Oncol Clin North Am 2009
9
The emerging roles of ribosome biogenesis in craniofacial development.
Adam P Ross, Konstantinos S Zarbalis. Front Physiol 2014
Adam P Ross, Konstantinos S Zarbalis. Front Physiol 2014
15
Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.
Paul A Trainor, Amy E Merrill. Biochim Biophys Acta 2014
Paul A Trainor, Amy E Merrill. Biochim Biophys Acta 2014
9
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Karen W Gripp, Cynthia Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica Xiao-Ling Chong, Lisa Pilchman, Rebecca Sahraoui, Deborah L Stabley, Katia Sol-Church. Am J Med Genet A 2014
Karen W Gripp, Cynthia Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica Xiao-Ling Chong, Lisa Pilchman, Rebecca Sahraoui, Deborah L Stabley, Katia Sol-Church. Am J Med Genet A 2014
9
Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome.
Toshiya Hayano, Mitsuaki Yanagida, Yoshio Yamauchi, Takashi Shinkawa, Toshiaki Isobe, Nobuhiro Takahashi. J Biol Chem 2003
Toshiya Hayano, Mitsuaki Yanagida, Yoshio Yamauchi, Takashi Shinkawa, Toshiaki Isobe, Nobuhiro Takahashi. J Biol Chem 2003
9
Examination of a palatogenic gene program in zebrafish.
Mary E Swartz, Kelly Sheehan-Rooney, Michael J Dixon, Johann K Eberhart. Dev Dyn 2011
Mary E Swartz, Kelly Sheehan-Rooney, Michael J Dixon, Johann K Eberhart. Dev Dyn 2011
9
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
K Nicole Weaver, Kristin E Noack Watt, Robert B Hufnagel, Joaquin Navajas Acedo, Luke L Linscott, Kristen L Sund, Patricia L Bender, Rainer König, Charles M Lourenco, Ute Hehr,[...]. Am J Hum Genet 2015
K Nicole Weaver, Kristin E Noack Watt, Robert B Hufnagel, Joaquin Navajas Acedo, Luke L Linscott, Kristen L Sund, Patricia L Bender, Rainer König, Charles M Lourenco, Ute Hehr,[...]. Am J Hum Genet 2015
10
Nucleolar stress with and without p53.
Allison James, Yubo Wang, Himanshu Raje, Raphyel Rosby, Patrick DiMario. Nucleus 2014
Allison James, Yubo Wang, Himanshu Raje, Raphyel Rosby, Patrick DiMario. Nucleus 2014
9
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
Bianca Gonzales, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon, Benigno C Valdez. Hum Mol Genet 2005
Bianca Gonzales, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon, Benigno C Valdez. Hum Mol Genet 2005
9
Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome.
Daniel Richard van Gijn, Abigail S Tucker, Martyn T Cobourne. Br J Oral Maxillofac Surg 2013
Daniel Richard van Gijn, Abigail S Tucker, Martyn T Cobourne. Br J Oral Maxillofac Surg 2013
16
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
9
Tissue specific roles for the ribosome biogenesis factor Wdr43 in zebrafish development.
Chengtian Zhao, Viktoria Andreeva, Yann Gibert, Melissa LaBonty, Victoria Lattanzi, Shubhangi Prabhudesai, Yi Zhou, Leonard Zon, Kathleen L McCann, Susan Baserga,[...]. PLoS Genet 2014
Chengtian Zhao, Viktoria Andreeva, Yann Gibert, Melissa LaBonty, Victoria Lattanzi, Shubhangi Prabhudesai, Yi Zhou, Leonard Zon, Kathleen L McCann, Susan Baserga,[...]. PLoS Genet 2014
12
12
Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.
Eliezer Calo, Bo Gu, Margot E Bowen, Fardin Aryan, Antoine Zalc, Jialiang Liang, Ryan A Flynn, Tomek Swigut, Howard Y Chang, Laura D Attardi,[...]. Nature 2018
Eliezer Calo, Bo Gu, Margot E Bowen, Fardin Aryan, Antoine Zalc, Jialiang Liang, Ryan A Flynn, Tomek Swigut, Howard Y Chang, Laura D Attardi,[...]. Nature 2018
9
The surgical management of Treacher Collins syndrome.
Alistair R M Cobb, Ben Green, Daljit Gill, Peter Ayliffe, Timothy W Lloyd, Neil Bulstrode, David J Dunaway. Br J Oral Maxillofac Surg 2014
Alistair R M Cobb, Ben Green, Daljit Gill, Peter Ayliffe, Timothy W Lloyd, Neil Bulstrode, David J Dunaway. Br J Oral Maxillofac Surg 2014
19
Review and update of mutations causing Waardenburg syndrome.
Véronique Pingault, Dorothée Ente, Florence Dastot-Le Moal, Michel Goossens, Sandrine Marlin, Nadège Bondurand. Hum Mutat 2010
Véronique Pingault, Dorothée Ente, Florence Dastot-Le Moal, Michel Goossens, Sandrine Marlin, Nadège Bondurand. Hum Mutat 2010
7
p53 and ribosome biogenesis stress: the essentials.
Lior Golomb, Sinisa Volarevic, Moshe Oren. FEBS Lett 2014
Lior Golomb, Sinisa Volarevic, Moshe Oren. FEBS Lett 2014
7
Airway interventions in children with Pierre Robin Sequence.
Abby C Meyer, Michael E Lidsky, Daniel E Sampson, Timothy A Lander, Meixia Liu, James D Sidman. Otolaryngol Head Neck Surg 2008
Abby C Meyer, Michael E Lidsky, Daniel E Sampson, Timothy A Lander, Meixia Liu, James D Sidman. Otolaryngol Head Neck Surg 2008
7
7
The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion.
Roberto L Flores, Sunil S Tholpady, Shawkat Sati, Grant Fairbanks, Juan Socas, Matthew Choi, Robert J Havlik. Plast Reconstr Surg 2014
Roberto L Flores, Sunil S Tholpady, Shawkat Sati, Grant Fairbanks, Juan Socas, Matthew Choi, Robert J Havlik. Plast Reconstr Surg 2014
7
Hearing impairment in Stickler syndrome: a systematic review.
Frederic R E Acke, Ingeborg J M Dhooge, Fransiska Malfait, Els M R De Leenheer. Orphanet J Rare Dis 2012
Frederic R E Acke, Ingeborg J M Dhooge, Fransiska Malfait, Els M R De Leenheer. Orphanet J Rare Dis 2012
8
Pierre robin sequence.
Noopur Gangopadhyay, Derick A Mendonca, Albert S Woo. Semin Plast Surg 2012
Noopur Gangopadhyay, Derick A Mendonca, Albert S Woo. Semin Plast Surg 2012
7
Outcomes analysis of mandibular distraction osteogenesis for the treatment of Pierre Robin sequence.
Kariuki P Murage, Sunil S Tholpady, Michael Friel, Robert J Havlik, Roberto L Flores. Plast Reconstr Surg 2013
Kariuki P Murage, Sunil S Tholpady, Michael Friel, Robert J Havlik, Roberto L Flores. Plast Reconstr Surg 2013
7
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
Y Ueki, V Tiziani, C Santanna, N Fukai, C Maulik, J Garfinkle, C Ninomiya, C doAmaral, H Peters, M Habal,[...]. Nat Genet 2001
Y Ueki, V Tiziani, C Santanna, N Fukai, C Maulik, J Garfinkle, C Ninomiya, C doAmaral, H Peters, M Habal,[...]. Nat Genet 2001
7
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.