Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling
作者:
Johnson, Brett, V [1]
;
Kumar, Raman [2]
;
Oishi, Sabrina [3]
;
Alexander, Suzy [4]
;
Kasherman, Maria [5]
;
Vega, Michelle Sanchez [6]
;
Ivancevic, Atma [7]
;
Gardner, Alison [8]
;
Domingo, Deepti [9]
;
Corbett, Mark [10]
;
Parnell, Euan [11]
;
Yoon, Sehyoun [12]
;
Oh, Tracey [13]
;
Lines, Matthew [14]
;
Lefroy, Henrietta [15]
;
Kini, Usha [16]
;
Van Allen, Margot [17]
;
Gronborg, Sabine [18]
;
Mercier, Sandra [19]
;
Kury, Sebastien [20]
;
Bezieau, Stephane [21]
;
Pasquier, Laurent [22]
;
Raynaud, Martine [23]
;
Afenjar, Alexandra [24]
;
de Villemeur, Thierry Billette [25]
;
Keren, Boris [26]
;
Desir, Julie [27]
;
Van Maldergem, Lionel [28]
;
Marangoni, Martina [29]
;
Dikow, Nicola [30]
;
Koolen, David A. [31]
;
VanHasselt, Peter M. [32]
;
Weiss, Marjan [33]
;
Zwijnenburg, Petra [34]
;
Sa, Joaquim [35]
;
Reis, Claudia Falcao [36]
;
Lopez-Otin, Carlos [37]
;
Santiago-Fernandez, Olaya [38]
;
Fernandez-Jaen, Alberto [39]
;
Rauch, Anita [40]
;
Steindl, Katharina [41]
;
Joset, Pascal [42]
;
Goldstein, Amy [43]
;
Madan-Khetarpal, Suneeta [44]
;
Infante, Elena [45]
;
Zackai, Elaine [46]
;
Mcdougall, Carey [47]
;
Narayanan, Vinodh [48]
;
Ramsey, Keri [49]
;
Mercimek-Andrews, Saadet [50]
;
Pena, Loren [51]
;
Shashi, Vandana [52]
;
Schoch, Kelly [53]
;
Sullivan, Jennifer A. [54]
;
E Vairo, Filippo Pinto [55]
;
Pichurin, Pavel N. [56]
;
Ewing, Sarah A. [57]
;
Barnett, Sarah S. ;
Klee, Eric W. ;
Perry, M. Scott ;
Koenig, Mary Kay ;
Keegan, Catherine E. ;
Schuette, Jane L. ;
Asher, Stephanie ;
Perilla-Young, Yezmin ;
Smith, Laurie D. ;
Rosenfeld, Jill A. ;
Bhoj, Elizabeth ;
Kaplan, Paige ;
Li, Dong ;
Oegema, Renske ;
van Binsbergen, Ellen ;
van der Zwaag, Bert ;
Smeland, Marie Falkenberg ;
Cutcutache, Ioana ;
Page, Matthew ;
Armstrong, Martin ;
Lin, Angela E. ;
Steeves, Marcie A. ;
den Hollander, Nicolette ;
Hoffer, Mariette J., V ;
Reijnders, Margot R. F. ;
Demirdas, Serwet ;
Koboldt, Daniel C. ;
Bartholomew, Dennis ;
Mosher, Theresa Mihalic ;
Hickey, Scott E. ;
Shieh, Christine ;
Sanchez-Lara, Pedro A. ;
Graham, John M., Jr. ;
Tezcan, Kamer ;
Schaefer, G. B. ;
Danylchuk, Noelle R. ;
Asamoah, Alexander ;
Jackson, Kelly E. ;
Yachelevich, Naomi ;
Au, Margaret ;
Perez-Jurado, Luis A. ;
Kleefstra, Tjitske ;
Penzes, Peter ;
Wood, Stephen A. ;
Burne, Thomas ;
Pierson, Tyler Mark ;
Piper, Michael ;
Gecz, Jozef ;
Jolly, Lachlan A. ;
Acosta, Maria T. ;
Adams, David R. ;
Aday, Aaron ;
Alejandro, Mercedes E. ;
Allard, Patrick ;
Ashley, Euan A. ;
Azamian, Mahshid S. ;
Bacino, Carlos A. ;
Bademci, Guney ;
Baker, Eva ;
Balasubramanyam, Ashok ;
Baldridge, Dustin ;
Barbouth, Deborah ;
Batzli, Gabriel F. ;
Beggs, Alan H. ;
Bellen, Hugo J. ;
Bernstein, Jonathan A. ;
Berry, Gerard T. ;
Bican, Anna ;
Bick, David P. ;
Birch, Camille L. ;
Bivona, Stephanie ;
Bonnenmann, Carsten ;
Bonner, Devon ;
Boone, Braden E. ;
Bostwick, Bret L. ;
Briere, Lauren C. ;
Brokamp, Elly ;
Brown, Donna M. ;
Brush, Matthew ;
Burke, Elizabeth A. ;
Burrage, Lindsay C. ;
Butte, Manish J. ;
Carrasquillo, Olveen ;
Chang, Ta Chen Peter ;
Chao, Hsiao-Tuan ;
Clark, Gary D. ;
Coakley, Terra R. ;
Cobban, Laurel A. ;
Cogan, Joy D. ;
Cole, F. Sessions ;
Colley, Heather A. ;
Cooper, Cynthia M. ;
Cope, Heidi ;
Craigen, William J. ;
D'Souza, Precilla ;
Dasari, Surendra ;
Davids, Mariska ;
Davidson, Jean M. ;
Dayal, Jyoti G. ;
Dell'Angelica, Esteban C. ;
Dhar, Shweta U. ;
Dorrani, Naghmeh ;
Dorset, Daniel C. ;
Douine, Emilie D. ;
Draper, David D. ;
Dries, Annika M. ;
Duncan, Laura ;
Eckstein, David J. ;
Emrick, Lisa T. ;
Eng, Christine M. ;
Enns, Gregory M. ;
Esteves, Cecilia ;
Estwick, Tyra ;
Fernandez, Liliana ;
Ferreira, Carlos ;
Fieg, Elizabeth L. ;
Fisher, Paul G. ;
Fogel, Brent L. ;
Forghani, Irman ;
Friedman, Noah D. ;
Gahl, William A. ;
Godfrey, Rena A. ;
Goldman, Alica M. ;
Goldstein, David B. ;
Gourdine, Jean-Philippe F. ;
Grajewski, Alana ;
Groden, Catherine A. ;
Gropman, Andrea L. ;
Haendel, Melissa ;
Hamid, Rizwan ;
Hanchard, Neil A. ;
High, Frances ;
Holm, Ingrid A. ;
Hom, Jason ;
Huang, Alden ;
Huang, Yong ;
Isasi, Rosario ;
Jamal, Fariha ;
Jiang, Yong-hui ;
Johnston, Jean M. ;
Jones, Angela L. ;
Karaviti, Lefkothea ;
Kelley, Emily G. ;
Koeller, David M. ;
Kohane, Isaac S. ;
Kohler, Jennefer N. ;
Krakow, Deborah ;
Krasnewich, Donna M. ;
Korrick, Susan ;
Koziura, Mary ;
Krier, Joel B. ;
Kyle, Jennifer E. ;
Lalani, Seema R. ;
Lam, Byron ;
Lanpher, Brendan C. ;
Lanza, Ian R. ;
Lau, C. Christopher ;
Lazar, Jozef ;
LeBlanc, Kimberly ;
Lee, Brendan H. ;
Lee, Hane ;
Levitt, Roy ;
Levy, Shawn E. ;
Lewis, Richard A. ;
Lincoln, Sharyn A. ;
Liu, Pengfei ;
Liu, Xue Zhong ;
Loo, Sandra K. ;
Loscalzo, Joseph ;
Maas, Richard L. ;
Macnamara, Ellen F. ;
MacRae, Calum A. ;
Maduro, Valerie V. ;
Majcherska, Marta M. ;
Malicdan, May Christine, V ;
Mamounas, Laura A. ;
Manolio, Teri A. ;
Markello, Thomas C. ;
Marom, Ronit ;
Martin, Martin G. ;
Martinez-Agosto, Julian A. ;
Marwaha, Shruti ;
May, Thomas ;
McCauley, Jacob ;
McConkie-Rosell, Allyn ;
McCormack, Colleen E. ;
McCray, Alexa T. ;
Merker, Jason D. ;
Metz, Thomas O. ;
Might, Matthew ;
Morava-Kozicz, Eva ;
Moretti, Paolo M. ;
Morimoto, Marie ;
Mulvihill, John J. ;
Murdock, David R. ;
Nath, Avi ;
Nelson, Stan F. ;
Newberry, J. Scott ;
Newman, John H. ;
Nicholas, Sarah K. ;
Novacic, Donna ;
Oglesbee, Devin ;
Orengo, James P. ;
Pak, Stephen ;
Pallais, J. Carl ;
Palmer, Christina G. S. ;
Papp, Jeanette C. ;
Parker, Neil H. ;
Phillips, John A., III ;
Posey, Jennifer E. ;
Postlethwait, John H. ;
Potocki, Lorraine ;
Pusey, Barbara N. ;
Renteri, Genecee ;
Reuter, Chloe M. ;
Rives, Lynette ;
Robertson, Amy K. ;
Rodan, Lance H. ;
Rowley, Robb K. ;
Sacco, Ralph ;
Sampson, Jacinda B. ;
Samson, Susan L. ;
Saporta, Mario ;
Schaechter, Judy ;
Schedl, Timothy ;
Scott, Daryl A. ;
Shakachite, Lisa ;
Sharma, Prashant ;
Shields, Kathleen ;
Shin, Jimann ;
Signer, Rebecca ;
Sillari, Catherine H. ;
Silverman, Edwin K. ;
Sinsheimer, Janet S. ;
Smith, Kevin S. ;
Solnica-Krezel, Lilianna ;
Spillmann, Rebecca C. ;
Stoler, Joan M. ;
Stong, Nicholas ;
Sweetser, David A. ;
Tamburro, Cecelia P. ;
Tan, Queenie K-G ;
Tekin, Mustafa ;
Telischi, Fred ;
Thorson, Willa ;
Tifft, Cynthia J. ;
Toro, Camilo ;
Tran, Alyssa A. ;
Urv, Tiina K. ;
Vogel, Tiphanie P. ;
Waggott, Daryl M. ;
Wahl, Colleen E. ;
Walley, Nicole M. ;
Walsh, Chris A. ;
Walker, Melissa ;
Wambach, Jennifer ;
Wan, Jijun ;
Wang, Lee-kai ;
Wangler, Michael F. ;
Ward, Patricia A. ;
Waters, Katrina M. ;
Bobbie-Jo, M. ;
Webb-Robertson ;
Wegner, Daniel ;
Field, Monte Wester ;
Wheeler, Matthew T. ;
Wise, Anastasia L. ;
Wolfe, Lynne A. ;
Woods, Jeremy D. ;
Worthey, Elizabeth A. ;
Yamamoto, Shinya ;
Yang, John ;
Yoon, Amanda J. ;
Yu, Guoyun ;
Zastrow, Diane B. ;
Zhao, Chunli ;
Zuchner, Stephan
作者单位:
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
[1]
Childrens Hosp Eastern Ontario, Ottawa, ON, Canada
[2]
Univ Texas Houston, Dept Pediat, Med Sch, Houston, TX USA
[3]
Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands
[4]
Hosp Univ Penn, Translat Med & Human Genet, 3400 Spruce St, Philadelphia, PA 19104 USA
[5]
Univ Cincinnati, Cincinnati Childrens Hosp, Dept Pediat, Div Human Genet,Coll Med, Cincinnati, OH
[6]
Univ Adelaide, 4 North Terrace, Adelaide, SA 5005, Australia
[7]
Griffith Univ, Griffith Inst Drug Discovery, Brisbane, Qld, Australia
[8]
Univ Med Ctr Utrecht, Dept Metab Dis, Utrecht, Netherlands
[9]
Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA
[10]
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands
[11]
Univ Nantes, CHU Nantes, Ctr Natl Rech Sci, Inst Natl Sante & Rech Med, Nantes, France
[12]
Baylor Coll Med, Houston, TX 77030 USA
[13]
Univ Tours, Ctr Hosp Reg Univ Tours, Inst Natl Sante & Rech Med, Serv Genet, Tours, France
[14]
Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA
[15]
Childrens Hosp Pittsburgh, Pittsburgh, PA 15213 USA
[16]
Univ Hosp North Norway, Dept Med Genet, Tromso, Norway
[17]
Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA
[18]
Translat Genom Res Inst, Ctr Rare Childhood Disorders, Phoenix, AZ USA
[19]
Hosp Univ Quiron Madrid, Unidad Neurol Infantil, Madrid, Spain
[20]
Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43210 USA
[21]
Cedars Sinai Med Ctr, Dept Pediat, Los Angeles, CA 90048 USA
[22]
Univ Louisville, Sch Med, Dept Pediat, Louisville, KY 40292 USA
[23]
Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands
[24]
Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia
[25]
UCB Pharma, Translat Med, Braine Lalleud, Belgium
[26]
Heidelberg Univ, Inst Human Genet, Heidelberg, Germany
[27]
Univ Zurich, Inst Med Genet, Schlieren, Switzerland
[28]
Univ Queensland, Sch Biomed Sci, Brisbane, Qld, Australia
[29]
NYU, Dept Pediat, Clin Genet Serv, Sch Med, New York, NY 10016 USA
[30]
Ctr Hosp, Hosp Pediat, Med Genet Unit, Coimbra, Portugal
[31]
Jane & John Justin Neurosci Ctr, Cook Childrens Med Ctr, Ft Worth, TX USA
[32]
Univ Arkansas Med Sci, Dept Genet Counseling, Little Rock, AR 72205 USA
[33]
Oxford Univ Hosp Natl Hlth Serv Fdn Trust, Oxford Ctr Genom Med, Oxford, England
[34]
Univ N Carolina, Div Pediat Genet & Metab, Chapel Hill, NC 27515 USA
[35]
Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON, Canada
[36]
Kaiser Permanente, Dept Genet, Sacramento, CA USA
[37]
Northwestern Univ, Dept Physiol, Feinberg Sch Med, Chicago, IL USA
[38]
Mass Gen Hosp Children, Med Genet Unit, Boston, MA USA
[39]
Univ Arkansas Med Sci, Sect Genet & Metab, Little Rock, AR 72205 USA
[40]
Univ Hosp Copenhagen, Ctr Rare Dis, Dept Pediat & Dept Clin Genet, Copenhagen, Denmark
[41]
Hop La Pitie Salpetriere, Dept Genet, Paris, France
[42]
Nationwide Childrens Hosp, Columbus, OH USA
[43]
Univ Libre Bruxelles, Erasme Univ Hosp, Brussels, Belgium
[44]
British Columbia Womens Hosp, Dept Med Genet, Vancouver, BC, Canada
[45]
Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA
[46]
Hop Armand Trousseau, AP HP, Centres Reference Malad Rares Deficits Intellectu, Dept Genet, Paris
[47]
Univ Franche Comte, Ctr Genet Humaine, Besancon, France
[48]
Univ Oviedo, Inst Univ Oncol Principado Asturias, Dept Bioquim & Biol Mol, Oviedo, Spain
[49]
Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
[50]
UCB Pharma, Translat Med, Slough, Berks, England
[51]
Sorbonne Univ, Centres Reference Malad Rares Neurogenet, Inst Natl Sante & Rech Med, Hop Armand
[52]
Vrije Univ, Dept Clin Genet, Univ Med Ctr, Amsterdam, Netherlands
[53]
Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands
[54]
Ctr Hosp Univ Hop Sud, Ctr Reference Deficiences Intellectuelles Causes, Serv Genet Clin, Rennes
[55]
Univ Michigan, Dept Pediat, Div Genet, Ann Arbor, MI 48109 USA
[56]
Mayo Clin, Dept Clin Genom, Rochester, MN USA
[57]
发布时间
2021-02-10
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Biological psychiatry
Biological psychiatry
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