Fjodor Merkuri, Jennifer L Fish. Genesis 2019
Times Cited: 7
Times Cited: 7
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Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors.
Lei Lei, Shou-Yu Yan, Ran Yang, Jia-Yu Chen, Yumei Li, Ye Bu, Nannan Chang, Qinchao Zhou, Xiaojun Zhu, Chuan-Yun Li,[...]. Nucleic Acids Res 2017
Lei Lei, Shou-Yu Yan, Ran Yang, Jia-Yu Chen, Yumei Li, Ye Bu, Nannan Chang, Qinchao Zhou, Xiaojun Zhu, Chuan-Yun Li,[...]. Nucleic Acids Res 2017
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Spliceosome structure and function.
Cindy L Will, Reinhard Lührmann. Cold Spring Harb Perspect Biol 2011
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A review of craniofacial disorders caused by spliceosomal defects.
D Lehalle, D Wieczorek, R M Zechi-Ceide, M R Passos-Bueno, S Lyonnet, J Amiel, C T Gordon. Clin Genet 2015
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Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.
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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Matthew A Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart L Douglas, Danielle C Lynch, Chandree Beaulieu, Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Blanca Gener, Gabriele Gillessen-Kaesbach,[...]. Am J Hum Genet 2012
Matthew A Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart L Douglas, Danielle C Lynch, Chandree Beaulieu, Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Blanca Gener, Gabriele Gillessen-Kaesbach,[...]. Am J Hum Genet 2012
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The evolutionarily conserved core design of the catalytic activation step of the yeast spliceosome.
Patrizia Fabrizio, Julia Dannenberg, Prakash Dube, Berthold Kastner, Holger Stark, Henning Urlaub, Reinhard Lührmann. Mol Cell 2009
Patrizia Fabrizio, Julia Dannenberg, Prakash Dube, Berthold Kastner, Holger Stark, Henning Urlaub, Reinhard Lührmann. Mol Cell 2009
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The EF-G-like GTPase Snu114p regulates spliceosome dynamics mediated by Brr2p, a DExD/H box ATPase.
Eliza C Small, Stephanie R Leggett, Adrienne A Winans, Jonathan P Staley. Mol Cell 2006
Eliza C Small, Stephanie R Leggett, Adrienne A Winans, Jonathan P Staley. Mol Cell 2006
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The role of Snu114p during pre-mRNA splicing.
Lily Novak Frazer, Verity Nancollis, Raymond T O'Keefe. Biochem Soc Trans 2008
Lily Novak Frazer, Verity Nancollis, Raymond T O'Keefe. Biochem Soc Trans 2008
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Gene expression changes in the course of neural progenitor cell differentiation.
Ulf Gurok, Christine Steinhoff, Bettina Lipkowitz, H-Hilger Ropers, Constance Scharff, Ulrike A Nuber. J Neurosci 2004
Ulf Gurok, Christine Steinhoff, Bettina Lipkowitz, H-Hilger Ropers, Constance Scharff, Ulrike A Nuber. J Neurosci 2004
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Dynamic regulation of mRNA decay during neural development.
Dana A Burow, Maxine C Umeh-Garcia, Marie B True, Crystal D Bakhaj, David H Ardell, Michael D Cleary. Neural Dev 2015
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p53 coordinates cranial neural crest cell growth and epithelial-mesenchymal transition/delamination processes.
Ariel Rinon, Alina Molchadsky, Elisha Nathan, Gili Yovel, Varda Rotter, Rachel Sarig, Eldad Tzahor. Development 2011
Ariel Rinon, Alina Molchadsky, Elisha Nathan, Gili Yovel, Varda Rotter, Rachel Sarig, Eldad Tzahor. Development 2011
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STAR: ultrafast universal RNA-seq aligner.
Alexander Dobin, Carrie A Davis, Felix Schlesinger, Jorg Drenkow, Chris Zaleski, Sonali Jha, Philippe Batut, Mark Chaisson, Thomas R Gingeras. Bioinformatics 2013
Alexander Dobin, Carrie A Davis, Felix Schlesinger, Jorg Drenkow, Chris Zaleski, Sonali Jha, Philippe Batut, Mark Chaisson, Thomas R Gingeras. Bioinformatics 2013
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The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP.
Sunbin Liu, Reinhard Rauhut, Hans-Peter Vornlocher, Reinhard Lührmann. RNA 2006
Sunbin Liu, Reinhard Rauhut, Hans-Peter Vornlocher, Reinhard Lührmann. RNA 2006
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Splicing regulation: from a parts list of regulatory elements to an integrated splicing code.
Zefeng Wang, Christopher B Burge. RNA 2008
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Mutagenesis suggests several roles of Snu114p in pre-mRNA splicing.
Cornelia Bartels, Henning Urlaub, Reinhard Luhrmann, Patrizia Fabrizio. J Biol Chem 2003
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Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Daphné Lehalle, Christopher T Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Jean-Luc Alessandri, Neus Baena, Geneviève Baujat, Clarisse Baumann, Odile Boute-Benejean,[...]. Hum Mutat 2014
Daphné Lehalle, Christopher T Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Jean-Luc Alessandri, Neus Baena, Geneviève Baujat, Clarisse Baumann, Odile Boute-Benejean,[...]. Hum Mutat 2014
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Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome.
Arun Devotta, Hugo Juraver-Geslin, Jose Antonio Gonzalez, Chang-Soo Hong, Jean-Pierre Saint-Jeannet. Dev Biol 2016
Arun Devotta, Hugo Juraver-Geslin, Jose Antonio Gonzalez, Chang-Soo Hong, Jean-Pierre Saint-Jeannet. Dev Biol 2016
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Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.
Felipe Marques, Jessica Tenney, Ivan Duran, Jorge Martin, Lisette Nevarez, Robert Pogue, Deborah Krakow, Daniel H Cohn, Bing Li. PLoS Genet 2016
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Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.
Kris P T Yu, Ho-Ming Luk, Christopher T Gordon, Genevieve Fung, Myriam Oufadem, Maria M Garcia-Barcelo, Jeanne Amiel, Brian H Y Chung, Ivan F M Lo, Yang Tan Tiong. Clin Dysmorphol 2018
Kris P T Yu, Ho-Ming Luk, Christopher T Gordon, Genevieve Fung, Myriam Oufadem, Maria M Garcia-Barcelo, Jeanne Amiel, Brian H Y Chung, Ivan F M Lo, Yang Tan Tiong. Clin Dysmorphol 2018
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RNA-Binding Proteins: Splicing Factors and Disease.
Alger M Fredericks, Kamil J Cygan, Brian A Brown, William G Fairbrother. Biomolecules 2015
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Molecular architecture of the human U4/U6.U5 tri-snRNP.
Dmitry E Agafonov, Berthold Kastner, Olexandr Dybkov, Romina V Hofele, Wen-Ti Liu, Henning Urlaub, Reinhard Lührmann, Holger Stark. Science 2016
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Cryo-EM structure of the yeast U4/U6.U5 tri-snRNP at 3.7 Å resolution.
Thi Hoang Duong Nguyen, Wojciech P Galej, Xiao-Chen Bai, Chris Oubridge, Andrew J Newman, Sjors H W Scheres, Kiyoshi Nagai. Nature 2016
Thi Hoang Duong Nguyen, Wojciech P Galej, Xiao-Chen Bai, Chris Oubridge, Andrew J Newman, Sjors H W Scheres, Kiyoshi Nagai. Nature 2016
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Mutations in spliceosomal proteins and retina degeneration.
Šárka Růžičková, David Staněk. RNA Biol 2017
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EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Christopher T Gordon, Florence Petit, Myriam Oufadem, Charles Decaestecker, Anne-Sophie Jourdain, Joris Andrieux, Valérie Malan, Jean-Luc Alessandri, Geneviève Baujat, Clarisse Baumann,[...]. J Med Genet 2012
Christopher T Gordon, Florence Petit, Myriam Oufadem, Charles Decaestecker, Anne-Sophie Jourdain, Joris Andrieux, Valérie Malan, Jean-Luc Alessandri, Geneviève Baujat, Clarisse Baumann,[...]. J Med Genet 2012
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The significant other: splicing by the minor spliceosome.
Janne J Turunen, Elina H Niemelä, Bhupendra Verma, Mikko J Frilander. Wiley Interdiscip Rev RNA 2013
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Alternative Splicing in Neurogenesis and Brain Development.
Chun-Hao Su, Dhananjaya D, Woan-Yuh Tarn. Front Mol Biosci 2018
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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Mingchu Xu, Yajing Angela Xie, Hana Abouzeid, Christopher T Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S Osman, Rachayata Dharmat, Rosa Riveiro-Alvarez,[...]. Am J Hum Genet 2017
Mingchu Xu, Yajing Angela Xie, Hana Abouzeid, Christopher T Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S Osman, Rachayata Dharmat, Rosa Riveiro-Alvarez,[...]. Am J Hum Genet 2017
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Precise temporal regulation of alternative splicing during neural development.
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Sebastien M Weyn-Vanhentenryck, Huijuan Feng, Dmytro Ustianenko, Rachel Duffié, Qinghong Yan, Martin Jacko, Jose C Martinez, Marianne Goodwin, Xuegong Zhang, Ulrich Hengst,[...]. Nat Commun 2018
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EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.
Brett Deml, Linda M Reis, Sanaa Muheisen, David Bick, Elena V Semina. Birth Defects Res A Clin Mol Teratol 2015
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Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
Arindam Sarkar, Lisa T Emrick, Eboni M Smith, Elise G Austin, Yaping Yang, Jill V Hunter, Fernando Scaglia, Seema R Lalani. Am J Med Genet A 2015
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An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2.
P Fabrizio, B Laggerbauer, J Lauber, W S Lane, R Lührmann. EMBO J 1997
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Functional and Biochemical Characterization of Dib1's Role in Pre-Messenger RNA Splicing.
Christian C Schreib, Emily K Bowman, Cody A Hernandez, Amber L Lucas, Camille H S Potts, Corina Maeder. J Mol Biol 2018
Christian C Schreib, Emily K Bowman, Cody A Hernandez, Amber L Lucas, Camille H S Potts, Corina Maeder. J Mol Biol 2018
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The ribosomal translocase homologue Snu114p is involved in unwinding U4/U6 RNA during activation of the spliceosome.
Cornelia Bartels, Christine Klatt, Reinhard Lührmann, Patrizia Fabrizio. EMBO Rep 2002
Cornelia Bartels, Christine Klatt, Reinhard Lührmann, Patrizia Fabrizio. EMBO Rep 2002
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Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
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RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome.
Bo Li, Colin N Dewey. BMC Bioinformatics 2011
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The U5 snRNA internal loop 1 is a platform for Brr2, Snu114 and Prp8 protein binding during U5 snRNP assembly.
Verity Nancollis, Jayalath P D Ruckshanthi, Lily Novak Frazer, Raymond T O'Keefe. J Cell Biochem 2013
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Fiji: an open-source platform for biological-image analysis.
Johannes Schindelin, Ignacio Arganda-Carreras, Erwin Frise, Verena Kaynig, Mark Longair, Tobias Pietzsch, Stephan Preibisch, Curtis Rueden, Stephan Saalfeld, Benjamin Schmid,[...]. Nat Methods 2012
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Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.
Olga Britanova, Michael J Depew, Manuela Schwark, Bethan L Thomas, Isabelle Miletich, Paul Sharpe, Victor Tarabykin. Am J Hum Genet 2006
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
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"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.
Daniela V Luquetti, Anne V Hing, Mark J Rieder, Deborah A Nickerson, Emily H Turner, Joshua Smith, Sarah Park, Michael L Cunningham. Am J Med Genet A 2013
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New perspectives on pharyngeal dorsoventral patterning in development and evolution of the vertebrate jaw.
Daniel Meulemans Medeiros, J Gage Crump. Dev Biol 2012
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Double nicking by RNA-guided CRISPR Cas9 for enhanced genome editing specificity.
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XBP1 mRNA is induced by ATF6 and spliced by IRE1 in response to ER stress to produce a highly active transcription factor.
H Yoshida, T Matsui, A Yamamoto, T Okada, K Mori. Cell 2001
H Yoshida, T Matsui, A Yamamoto, T Okada, K Mori. Cell 2001
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Molecular mechanisms of human IRE1 activation through dimerization and ligand binding.
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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.