Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

作者：Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria A. Kasherman, Michelle Sanchez Vega, Atma M. Ivancevic, Alison E. Gardner, Deepti Domingo, Mark A Corbett, Euan Parnell, Sehyoun Yoon, Tracey Oh, Matthew A. Lines, Henrietta Lefroy, Usha Kini, Margot Van Allen, Sabine Weller Grønborg, Sandra Mercier, Sébastien Küry, Stéphane Bezieau, Laurent Pasquier, Martine Raynaud, Alexandra Afenjar, Thierry Billette de Villemeur, Boris Keren, Julie Désir, Lionel Van Maldergem, Martina Marangoni, Nicola Dikow, David A. Koolen, Peter M. VanHasselt, Marjan M. Weiss, Petra J. G. Zwijnenburg, Joaquim Sá, Cláudia Falcão Reis, Carlos López-Otı́n, Olaya Santiago‐Fernández, Alberto Fernández‐Jaén, Anita M. Rauch, Katharina Steindl, Pascal Joset, Amy C. Goldstein, Suneeta Madan‐Khetarpal, Elena Infante, Elaine H. Zackai, Carey McDougall, Vinodh Narayanan, Keri M. Ramsey, Saadet Mercimek‐Andrews, Loren D.M. Peña, Vandana Shashi, Loren D.M. Peña, Vandana Shashi, Kelly Schoch, Jennifer A. Sullivan, Maria T. Acosta, David R. Adams, Aaron W. Aday, Mercedes E. Alejandro, Patrick Allard, Euan A. Ashley, Mahshid Sababi Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Deborah Barbouth, Gabriel F. Batzli, Alan H. Beggs, Hugo Jozef Bellen, Jonathan Adam Bernstein, Gerard T. Berry, Anna Bican, David P Bick, Camille L. Birch, Stephanie Bivona, Carsten Bonnenmann, Devon E. Bonner, Braden E. Boone, Bret L. Bostwick, Lauren C. Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay Catherine Burrage, Manish J. Butte, Olveen Carrasquillo, Ta Chen Chang, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Francis Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William James Craigen, Precilla D’Souza, Surendra Dasari, Mariska Davids, Jean M. Davidson, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Annika M. Dries, Laura Duncan, David J. Eckstein, Lisa Emrick, Christine M. Eng, Gregory M. Enns, Cecilia Esteves, Tyra Estwick, Liliana Fernández, Carlos R. Ferreira, Elizabeth L. Fieg, Paul Graham Fisher, Brent L. Fogel, Irman Forghani, Noah D. Friedman, William Allen Gahl, Rena A. Godfrey, Alica M. Goldman, David B. Goldstein, Jean‐Philippe F. Gourdine, Alana L. Grajewski, Catherine A. Groden, Andrea Lynne Gropman, Melissa Anne Haendel, Rizwan Hamid, Neil A. Hanchard, Frances High, Ingrid A. Holm, Jason Hom, Alden Huang, Yong Huang, Rosario Isasi, Fariha Jamal, Yong‐hui Jiang, Jean M. Johnston, Angela Jones, Lefkothea P. Karaviti, Emily G. Kelley, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Susan Korrick, Mary E. Koziura, Joel B. Krier, Jennifer E Kyle, Seema R. Lalani, Byron Lam, Brendan C. Lanpher, Ian R. Lanza, C. Christopher Lau, Jozef Lazar, Kimberly A. LeBlanc, Brendan Lee, Hane Lee, Roy C. Levitt, Shawn Levy, Richard A. Lewis, Sharyn A. Lincoln, Pengfei Liu, Xue Zhong Liu, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Braden Maduro, Marta M. Majcherska, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Thomas C. Markello, Ronit Marom, Martín G. Martín, Julián A. Martínez-Agosto, Shruti Marwaha, Thomas May, Jacob L. McCauley, Allyn McConkie‐Rosell, Colleen E. McCormack, Alexa T. McCray, Jason D. Merker, Thomas Metz, Matthew Might, Eva Morava‐Kozicz, Paolo M. Moretti, Marie Morimoto, John Joseph Mulvihill, David R. Murdock, Avi Nath, Stan F. Nelson, J. Scott Newberry, John Henry Newman, Sarah Kogan Nicholas, Donna Novacic, Devin Oglesbee, James Peter Orengo, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer Ellen Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Genecee Renteri, Chloe M. Reuter, Lynette C. Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Robb K. Rowley, Ralph L. Sacco, Jacinda B. Sampson, Susan Leanne Samson, Mario Saporta, Judy L. Schaechter, Timothy Schedl, Daryl A. Scott, Lisa Shakachite, Prashant Sharma, Kathleen M. Shields, Jimann Shin, Rebecca H. Signer, Catherine H. Sillari, Edwin K. Silverman, Janet S. Sinsheimer, Kevin S. Smith, Lilianna Solnica‐Krezel, Rebecca C. Spillmann, Joan Marilyn Stoler, Nicholas Stong, David A. Sweetser, Cecelia P. Tamburro, Queenie K.‐G. Tan, Mustafa Tekin, Fred Telischi, Willa L. Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Tiina K. Urv, Tiphanie P. Vogel, Daryl M. Waggott, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Katrina M. Waters, Bobbie‐Jo Webb‐Robertson, Daniel Wegner, Monte Westerfield, Matthew T. Wheeler, Anastasia L. Wise, Lynne A. Wolfe, Jeremy D. Woods, Elizabeth A. Worthey, Shinya Yamamoto, John Jeongseok Yang, Amanda J. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, Stephan L. Zuchner, William Allen Gahl, Kelly Schoch, Jennifer A. Sullivan, Filippo Pinto e Vairo, Pavel N. Pichurin, Sarah Ewing, Sarah Barnett, Eric W. Klee, Matthew Perry, Mary Kay Koenig, Catherine E. Keegan, Jane L. Schuette, Stephanie Byers Asher, Yezmin Perilla‐Young, Laurie D. Smith, Jill A. Rosenfeld, Elizabeth J. K. Bhoj, Paige B. Kaplan, Dong Li, Renske Oegema, Ellen van Binsbergen, Bert van der Zwaag, Marie Falkenberg Smeland, Ioana Cutcutache, Matthew Page, Martin Armstrong, Angela E. Lin, Marcie A. Steeves, Nicolette S. den Hollander, Mariëtte J.V. Hoffer, Margot R.F. Reijnders, Serwet Demirdas, Daniel C. Koboldt, Dennis Bartholomew, Theresa Mihalic Mosher, Scott E. Hickey, Christine Shieh, Pedro Alfonso Sanchez-Lara, John M. Graham, Kamer Tezcan, Gerald Bradley Schaefer, Noelle R. Danylchuk, Alexander Asamoah, Kelly E. Jackson, Naomi Yachelevich, Margaret Au, Luis Alberto Pérez-Jurado, Tjitske Kleefstra, Peter Penzes, Stephen A. Wood, Thomas H.J. Burne, Tyler Mark Pierson, Michael Piper, Jozef Gécz, Lachlan A. Jolly · 发表于：Biological Psychiatry · 年份：2019 · DOI：10.1016/j.biopsych.2019.05.028 · 被引用次数：72 · 研究领域：Ubiquitin and proteasome pathways、Genetics and Neurodevelopmental Disorders、Connective tissue disorders research