Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ryan Kuehl"'
Autor:
Elizabeth A. Werren, Alba Guxholli, Natasha Jones, Matias Wagner, Iris Hannibal, Jorge L. Granadillo, Amanda V. Tyndall, Amanda Moccia, Ryan Kuehl, Kristin M. Levandoski, Debra L. Day-Salvatore, Marsha Wheeler, Jessica X. Chong, Michael J. Bamshad, A. Micheil Innes, Tyler Mark Pierson, Joel P. Mackay, Stephanie L. Bielas, Donna M. Martin
Publikováno v:
HGG Advances, Vol 4, Iss 3, Pp 100198- (2023)
Summary: GATA zinc finger domain containing 2A (GATAD2A) is a subunit of the nucleosome remodeling and deacetylase (NuRD) complex. NuRD is known to regulate gene expression during neural development and other processes. The NuRD complex modulates chr
Externí odkaz:
https://doaj.org/article/55ebaaa929534eec94b83543adbc336f
Autor:
Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Jian Jiao, Jin Yun (Helen) Chen, Kathryn J. Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti-Pierri, Benedicte Gerard, Emmanuelle Ginglinger, Julie Richer, Hugh McMillan, Alexandre White-Brown, Kendra Hoekzema, Raphael A. Bernier, Evangeline C. Kurtz-Nelson, Rachel K. Earl, Claartje Meddens, Marielle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G. Monaghan, Michelle M. Morrow, Evan E. Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo
Publikováno v:
Science advances, 8(33):eabo7112. American Association for the Advancement of Science
Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We report a new neurodevelopmental disorder (NDD) with common features of language problems, intellectual disability, and behavioral issues caused by de novo like
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d6ee0a0b2e7c1dd27774edf6d5fa7b9
https://pure.amc.nl/en/publications/de-novo-variants-in-genes-regulating-stress-granule-assembly-associate-with-neurodevelopmental-disorders(a5d812f0-5775-4504-a0d6-daa55fcbd6c9).html
https://pure.amc.nl/en/publications/de-novo-variants-in-genes-regulating-stress-granule-assembly-associate-with-neurodevelopmental-disorders(a5d812f0-5775-4504-a0d6-daa55fcbd6c9).html