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Items: 1 to 20 of 25

1.
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo
Neurol Genet. 2023 Apr; 9(2): e200049. Published online 2023 Jan 23. doi: 10.1212/NXG.0000000000200049
PMCID:
PMC10117703
AbstractArticlePDF–474K
2.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner
Hum Genomics. 2021; 15: 44. Published online 2021 Jul 13. doi: 10.1186/s40246-021-00342-3
PMCID:
PMC8278787
AbstractArticlePDF–3.8M
3.
Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing
Mykyta Artomov, Alexander J Stratigos, Ivana Kim, Raj Kumar, Martin Lauss, Bobby Y Reddy, Benchun Miao, Carla Daniela Robles-Espinoza, Aravind Sankar, Ching-Ni Njauw, Kristen Shannon, Evangelos S Gragoudas, Anne Marie Lane, Vivek Iyer, Julia A Newton-Bishop, D Timothy Bishop, Elizabeth A Holland, Graham J Mann, Tarjinder Singh, Mark J Daly, Hensin Tsao
J Natl Cancer Inst. 2017 Dec; 109(12): djx083. Published online 2017 Jun 3. doi: 10.1093/jnci/djx083
PMCID:
PMC5939858
AbstractArticlePDF–1.3M
4.
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism
Akemi J. Tanaka, Megan T. Cho, Rebecca Willaert, Kyle Retterer, Yuri A. Zarate, Katie Bosanko, Vikki Stefans, Kimihiko Oishi, Amy Williamson, Golder N. Wilson, Alice Basinger, Tina Barbaro-Dieber, Lucia Ortega, Susanna Sorrentino, Melissa K. Gabriel, Ilse J. Anderson, Maria J. Guillen Sacoto, Rhonda E. Schnur, Wendy K. Chung
Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6): a002097. doi: 10.1101/mcs.a002097
PMCID:
PMC5701309
AbstractArticlePDF–17M
5.
Emerging roles of the EBF family of transcription factors in tumor suppression
Daiqing Liao
Mol Cancer Res. Author manuscript; available in PMC 2017 Aug 7.
Published in final edited form as: Mol Cancer Res. 2009 Dec; 7(12): 1893–1901. Published online 2009 Dec 8. doi: 10.1158/1541-7786.MCR-09-0229
PMCID:
PMC5545892
AbstractArticlePDF–740K
6.
Genome-wide methylation sequencing of paired primary and metastatic cell lines identifies common DNA methylation changes and a role for EBF3 as a candidate epigenetic driver of melanoma metastasis
Aniruddha Chatterjee, Peter A Stockwell, Antonio Ahn, Euan J Rodger, Anna L Leichter, Michael R Eccles
Oncotarget. 2017 Jan 24; 8(4): 6085–6101. Published online 2016 Dec 20. doi: 10.18632/oncotarget.14042
PMCID:
PMC5351615
AbstractArticlePDF–5.2M
7.
Early B-cell factor 3 (EBF3) is a novel tumor suppressor gene with promoter hypermethylation in pediatric acute myeloid leukemia
Yan-Fang Tao, Li-Xiao Xu, Jun Lu, Shao-Yan Hu, Fang Fang, Lan Cao, Pei-Fang Xiao, Xiao-Juan Du, Li-Chao Sun, Zhi-Heng Li, Na-Na Wang, Guang-Hao Su, Yan-Hong Li, Gang Li, He Zhao, Yi-Ping Li, Yun-Yun Xu, Hui-Ting Zhou, Yi Wu, Mei-Fang Jin, Lin Liu, Xue-Ming Zhu, Jian Ni, Jian Wang, Feng Xing, Wen-Li Zhao, Jian Pan
J Exp Clin Cancer Res. 2015; 34(1): 4. Published online 2015 Jan 22. doi: 10.1186/s13046-014-0118-1
PMCID:
PMC4311429
AbstractArticlePDF–3.6M
8.
Characterisation of DNA methylation changes in EBF3 and TBC1D16 associated with tumour progression and metastasis in multiple cancer types
Euan J. Rodger, Aniruddha Chatterjee, Peter A. Stockwell, Michael R. Eccles
Clin Epigenetics. 2019; 11: 114. Published online 2019 Aug 5. doi: 10.1186/s13148-019-0710-5
PMCID:
PMC6683458
AbstractArticlePDF–1.8M
9.
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
Hannah Sleven, Seth J. Welsh, Jing Yu, Mair E.A. Churchill, Caroline F. Wright, Alex Henderson, Rita Horvath, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D. King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N. Nelson, Deciphering Developmental Disorders study, CAUSES study, Jonathan Williams, Penny Clouston, James Hagman, Andrea H. Németh
Am J Hum Genet. 2017 Jan 5; 100(1): 138–150. Published online 2016 Dec 23. doi: 10.1016/j.ajhg.2016.11.020
PMCID:
PMC5223060
AbstractArticlePDF–1.3M
10.
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
Frederike Leonie Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, Michelle Primiano, Wendy K. Chung, Jane Juusola, Zeynep C. Akdemir, Matthew Bainbridge, Wu-Lin Charng, Margaret Drummond-Borg, Mohammad K. Eldomery, Ayman W. El-Hattab, Mohammed A.M. Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R. Lupski, Richard M. Myers, Gregory M. Cooper, Kerstin Kutsche
Am J Hum Genet. 2017 Jan 5; 100(1): 117–127. Published online 2016 Dec 22. doi: 10.1016/j.ajhg.2016.11.012
PMCID:
PMC5223027
AbstractArticlePDF–1.9M
11.
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G. Pappas, Jill A. Rosenfeld, Alexandra J. McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K. Johnson, Coral G. Warr, Undiagnosed Diseases Network, Shinya Yamamoto, David R. Adams, Thomas C. Markello, William A. Gahl, Hugo J. Bellen, Michael F. Wangler, May Christine V. Malicdan
Am J Hum Genet. 2017 Jan 5; 100(1): 128–137. Published online 2016 Dec 22. doi: 10.1016/j.ajhg.2016.11.018
PMCID:
PMC5223093
AbstractArticlePDF–2.2M
12.
Cloning and Functional Characterization of Roaz, a Zinc Finger Protein that Interacts with O/E-1 to Regulate Gene Expression: Implications for Olfactory Neuronal Development
Robert Y. L. Tsai, Randall R. Reed
J Neurosci. 1997 Jun 1; 17(11): 4159–4169. doi: 10.1523/JNEUROSCI.17-11-04159.1997
PMCID:
PMC6573535
AbstractArticlePDF–841K
13.
A Genome-Wide Association Study of Sleep Habits and Insomnia
Enda M Byrne, Philip R Gehrman, Sarah E Medland, Dale R Nyholt, Andrew C Heath, Pamela AF Madden, The Chronogen Consortium, Ian B Hickie, Cornelia M Van Duijn, Anjali K Henders, Grant W Montgomery, Nicholas G Martin, Naomi R Wray
Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2014 Jul 7.
Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2013 Jul; 0(5): 439–451. Published online 2013 May 31. doi: 10.1002/ajmg.b.32168
PMCID:
PMC4083458
AbstractArticlePDF–123K
14.
Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint
Melanie L. Bailey, Tejomayee Singh, Patricia Mero, Jason Moffat, Philip Hieter
Genetics. 2015 Nov; 201(3): 885–895. Published online 2015 Sep 8. doi: 10.1534/genetics.115.180653
PMCID:
PMC4649658
AbstractArticlePDF–1.8M
15.
The tumor suppressor CIC directly regulates MAPK pathway genes via histone deacetylation
Simon Weissmann, Paul A. Cloos, Simone Sidoli, Ole N. Jensen, Steven Pollard, Kristian Helin
Cancer Res. Author manuscript; available in PMC 2019 Feb 1.
Published in final edited form as: Cancer Res. 2018 Aug 1; 78(15): 4114–4125. Published online 2018 May 29. doi: 10.1158/0008-5472.CAN-18-0342
PMCID:
PMC6076439
AbstractArticlePDF–2.5M
16.
Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes
Xu Li, Wenqi Wang, Jiadong Wang, Anna Malovannaya, Yuanxin Xi, Wei Li, Rudy Guerra, David H Hawke, Jun Qin, Junjie Chen
Mol Syst Biol. 2015 Jan; 11(1): 775. Published online 2015 Jan 21. doi: 10.15252/msb.20145504
PMCID:
PMC4332150
AbstractArticlePDF–2.8M
17.
PRISMA and BioID disclose a motifs-based interactome of the intrinsically disordered transcription factor C/EBPα
Evelyn Ramberger, Valeria Sapozhnikova, Elisabeth Kowenz-Leutz, Karin Zimmermann, Nathalie Nicot, Petr V. Nazarov, Daniel Perez-Hernandez, Ulf Reimer, Philipp Mertins, Gunnar Dittmar, Achim Leutz
iScience. 2021 Jun 25; 24(6): 102686. Published online 2021 Jun 4. doi: 10.1016/j.isci.2021.102686
PMCID:
PMC8220391
AbstractArticlePDF–4.4M
18.
Large-scale mapping of human protein–protein interactions by mass spectrometry
Rob M Ewing, Peter Chu, Fred Elisma, Hongyan Li, Paul Taylor, Shane Climie, Linda McBroom-Cerajewski, Mark D Robinson, Liam O'Connor, Michael Li, Rod Taylor, Moyez Dharsee, Yuen Ho, Adrian Heilbut, Lynda Moore, Shudong Zhang, Olga Ornatsky, Yury V Bukhman, Martin Ethier, Yinglun Sheng, Julian Vasilescu, Mohamed Abu-Farha, Jean-Philippe Lambert, Henry S Duewel, Ian I Stewart, Bonnie Kuehl, Kelly Hogue, Karen Colwill, Katharine Gladwish, Brenda Muskat, Robert Kinach, Sally-Lin Adams, Michael F Moran, Gregg B Morin, Thodoros Topaloglou, Daniel Figeys
Mol Syst Biol. 2007; 3: 89. Published online 2007 Mar 13. doi: 10.1038/msb4100134
PMCID:
PMC1847948
AbstractArticlePDF–440K
19.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491
PMCID:
PMC4869170
AbstractArticlePDF–2.0M
20.
Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates
Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert
Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644
PMCID:
PMC10565876
AbstractArticlePDF–3.7M

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