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De novo variants in MRTFBhave gain-of-function activity in Drosophilaand are associated with a novel neurodevelopmental phenotype with dysmorphic features
De novo variants in MRTFBhave gain-of-function activity in Drosophilaand are associated with a novel neurodevelopmental phenotype with dysmorphic features
Authors :
Andrews, Jonathan C. Mok, Jung-Wan Kanca, Oguz Jangam, Sharayu Tifft, Cynthia Macnamara, Ellen F. Russell, Bianca E. Wang, Lee-kai Acosta, Maria T. Adam, Margaret Adams, David R. Alvarez, Raquel L. Alvey, Justin Amendola, Laura Andrews, Ashley Ashley, Euan A. Bacino, Carlos A. Bademci, Guney Balasubramanyam, Ashok Baldridge, Dustin Bale, Jim Bamshad, Michael Barbouth, Deborah Bayrak-Toydemir, Pinar Beck, Anita Beggs, Alan H. Behrens, Edward Bejerano, Gill Bellen, Hugo J. Bennett, Jimmy Berg-Rood, Beverly Bernstein, Jonathan A. Berry, Gerard T. Bican, Anna Bivona, Stephanie Blue, Elizabeth Bohnsack, John Bonner, Devon Botto, Lorenzo Boyd, Brenna Briere, Lauren C. Brokamp, Elly Brown, Gabrielle Burke, Elizabeth A. Burrage, Lindsay C. Butte, Manish J. Byers, Peter Byrd, William E. Carey, John Carrasquillo, Olveen Cassini, Thomas Peter Chang, Ta Chen Chanprasert, Sirisak Chao, Hsiao-Tuan Clark, Gary D. Coakley, Terra R. Cobban, Laurel A. Cogan, Joy D. Coggins, Matthew Cole, F. Sessions Colley, Heather A. Cooper, Cynthia M. Cope, Heidi Corona, Rosario Craigen, William J. Crouse, Andrew B. Cunningham, Michael D’Souza, Precilla Dai, Hongzheng Dasari, Surendra Davis, Joie Dayal, Jyoti G. Dell'Angelica, Esteban C. Dipple, Katrina Doherty, Daniel Dorrani, Naghmeh Doss, Argenia L. Douine, Emilie D. Duncan, Laura Earl, Dawn Eckstein, David J. Emrick, Lisa T. Eng, Christine M. Falk, Marni Fieg, Elizabeth L. Fisher, Paul G. Fogel, Brent L. Forghani, Irman Gahl, William A. Glass, Ian Gochuico, Bernadette Goddard, Page C. Godfrey, Rena A. Golden-Grant, Katie Grajewski, Alana Hadley, Don Hahn, Sihoun Halley, Meghan C. Hamid, Rizwan Hassey, Kelly Hayes, Nichole High, Frances Hing, Anne Hisama, Fuki M. Holm, Ingrid A. Hom, Jason Horike-Pyne, Martha Huang, Alden Hutchison, Sarah Introne, Wendy Isasi, Rosario Izumi, Kosuke Jamal, Fariha Jarvik, Gail P. Jarvik, Jeffrey Jayadev, Suman Jean-Marie, Orpa Jobanputra, Vaidehi Karaviti, Lefkothea Kennedy, Jennifer Ketkar, Shamika Kiley, Dana Kilich, Gonench Kobren, Shilpa N. Kohane, Isaac S. Kohler, Jennefer N. Korrick, Susan Kozuira, Mary Krakow, Deborah Krasnewich, Donna M. Kravets, Elijah Lalani, Seema R. Lam, Byron Lam, Christina Lanpher, Brendan C. Lanza, Ian R. LeBlanc, Kimberly Lee, Brendan H. Levitt, Roy Lewis, Richard A. Liu, Pengfei Liu, Xue Zhong Longo, Nicola Loo, Sandra K. Loscalzo, Joseph Maas, Richard L. Macnamara, Ellen F. MacRae, Calum A. Maduro, Valerie V. Maghiro, AudreyStephannie Mahoney, Rachel Malicdan, May Christine V. Mamounas, Laura A. Manolio, Teri A. Mao, Rong Maravilla, Kenneth Marom, Ronit Marth, Gabor Martin, Beth A. Martin, Martin G. Martínez-Agosto, Julian A. Marwaha, Shruti McCauley, Jacob McConkie-Rosell, Allyn McCray, Alexa T. McGee, Elisabeth Mefford, Heather Merritt, J. Lawrence Might, Matthew Mirzaa, Ghayda Morava, Eva Moretti, Paolo Mulvihill, John Nakano-Okuno, Mariko Nelson, Stanley F. Newman, John H. Nicholas, Sarah K. Nickerson, Deborah Nieves-Rodriguez, Shirley Novacic, Donna Oglesbee, Devin Orengo, James P. Pace, Laura Pak, Stephen Pallais, J. Carl Palmer, Christina G.S. Papp, Jeanette C. Parker, Neil H. Phillips, John A. Posey, Jennifer E. Potocki, Lorraine Pusey Swerdzewski, Barbara N. Quinlan, Aaron Rao, Deepak A. Raper, Anna Raskind, Wendy Renteria, Genecee Reuter, Chloe M. Rives, Lynette Robertson, Amy K. Rodan, Lance H. Rosenfeld, Jill A. Rosenwasser, Natalie Rossignol, Francis Ruzhnikov, Maura Sacco, Ralph Sampson, Jacinda B. Saporta, Mario Schaechter, Judy Schedl, Timothy Schoch, Kelly Scott, Daryl A. Scott, C. Ron Shashi, Vandana Shin, Jimann Silverman, Edwin K. Sinsheimer, Janet S. Sisco, Kathy Smith, Edward C. Smith, Kevin S. Solem, Emily Solnica-Krezel, Lilianna Solomon, Ben Spillmann, Rebecca C. Stoler, Joan M. Sullivan, Kathleen Sullivan, Jennifer A. Sun, Angela Sutton, Shirley Sweetser, David A. Sybert, Virginia Tabor, Holly K. Tan, Queenie K.-G. Tan, Amelia L.M. Tekin, Mustafa Telischi, Fred Thorson, Willa Tifft, Cynthia J. Toro, Camilo Tran, Alyssa A. Ungar, Rachel A. Urv, Tiina K. Vanderver, Adeline Velinder, Matt Viskochil, Dave Vogel, Tiphanie P. Wahl, Colleen E. Walker, Melissa Wallace, Stephanie Walley, Nicole M. Wambach, Jennifer Wan, Jijun Wang, Lee-kai Wangler, Michael F. Ward, Patricia A. Wegner, Daniel Hubshman, Monika Weisz Wener, Mark Wenger, Tara Westerfield, Monte Wheeler, Matthew T. Whitlock, Jordan Wolfe, Lynne A. Worley, Kim Xiao, Changrui Yamamoto, Shinya Yang, John Zhang, Zhe Zuchner, Stephan Nelson, Stanley F. Bellen, Hugo J. Yamamoto, Shinya Malicdan, May Christine V. Wangler, Michael F.
Source :
Genetics in Medicine; June 2023, Vol. 25 Issue: 6
Publication Year :
2023
Abstract
Myocardin-related transcription factor B (MRTFB) is an important transcriptional regulator, which promotes the activity of an estimated 300 genes but is not known to underlie a Mendelian disorder.
Details
Language :
English
ISSN :
10983600 and 15300366
Volume :
25
Issue :
6
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs62700741
Full Text :
https://doi.org/10.1016/j.gim.2023.100833