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Select item 105658761.

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

Abstract Article PDF–3.7M

Select item 101177032.

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

Abstract Article PDF–474K

Select item 82787873.

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

Abstract Article PDF–3.8M

Select item 82203914.

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

Abstract Article PDF–4.4M

Select item 81650305.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 71699836.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 66834587.

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

Abstract Article PDF–1.8M

Select item 65735358.

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

Abstract Article PDF–841K

Select item 60764399.

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

Abstract Article PDF–2.5M

Select item 593985810.

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

Abstract Article PDF–1.3M

Select item 570130911.

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

Abstract Article PDF–17M

Select item 554589212.

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

Abstract Article PDF–740K

Select item 553161113.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 535161514.

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

Abstract Article PDF–5.2M

Select item 522309315.

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

Abstract Article PDF–2.2M

Select item 522306016.

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

Abstract Article PDF–1.3M

Select item 522302717.

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

Abstract Article PDF–1.9M

Select item 486917018.

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