Resultados de búsqueda - Xiangbin Jia
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1
GIGYF1 disruption associates with autism and impaired IGF-1R signaling por Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang, Xiaolei Zhang, Qian Jiang, Hua Yue, Yaoling Han, Shengjie Luo, Kendra Hoekzema, Raphael Bernier, Rachel K. Earl, Evangeline C. Kurtz‐Nelson, Michaela J. Idleburg, Suneeta Madan-Khetarpal, Rebecca A. Clark, Jessica Sebastian, Alberto Fernández‐Jaén, Sara Álvarez, Staci D. King, Luiza Ramos, Mara Lúcia Schmitz Ferreira Santos, Donna M. Martin, Dan Brooks, Joseph D. Symonds, Ioana Cutcutache, Qian Pan, Zhengmao Hu, Ling Yuan, Evan E. Eichler, Kun Xia, Hui Guo
Publicado 2022Artigo -
2
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model por Hui Guo, Tianyun Wang, Huidan Wu, Long Min, Bradley P. Coe, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Ting Bai, Ningxia Zhao, Yidong Shen, Yun Li, Yazhe Wang, Yu Zhang, Carl Baker, Yanling Liu, Nan Pang, Li’an Huang, Lin Han, Xiangbin Jia, Cenying Liu, Hailun Ni, Xinyi Yang, Lu Xia, Jingjing Chen, Lu Shen, Ying Li, Rongjuan Zhao, Wenjing Zhao, Jing Peng, Qian Pan, Zhigao Long, Wei Su, Jieqiong Tan, Xiaogang Du, Xiaoyan Ke, Meiling Yao, Zhengmao Hu, Xiaobing Zou, Jingping Zhao, Raphael Bernier, Evan E. Eichler, Kun Xia
Publicado 2018Artigo -
3
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders por Xiangbin Jia, S. 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 Chen, Kathryn J. Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Bénédicte Gérard, Emmanuelle Ginglinger, Julie Richer, Hugh J. McMillan, Alexandre White‐Brown, Kendra Hoekzema, Raphael Bernier, Evangeline C. Kurtz‐Nelson, Rachel K. Earl, Claartje Meddens, Mariëlle 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
Publicado 2022Artigo -
4
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission por Hui Guo, Ying Li, Lu Shen, Tianyun Wang, Xiangbin Jia, Lijuan Liu, Tao Xu, Mengzhu Ou, Kendra Hoekzema, Huidan Wu, Madelyn A. Gillentine, Cenying Liu, Hailun Ni, Pengwei Peng, Rongjuan Zhao, Yu Zhang, Chanika Phornphutkul, Alexander P.A. Stegmann, Carlos E. Prada, Robert J. Hopkin, Joseph T.C. Shieh, Kirsty McWalter, Kristin G. Monaghan, Peter M. van Hasselt, Koen L.I. van Gassen, Ting Bai, Long Min, Lin Han, Yingting Quan, Meilin Chen, Yaowen Zhang, Kuokuo Li, Qiumeng Zhang, Jieqiong Tan, Tengfei Zhu, Yaning Liu, Nan Pang, Jing Peng, Daryl A. Scott, Seema R. Lalani, Mahshid S. Azamian, Grazia M.S. Mancini, Darius J. Adams, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jonathan Pevsner, Ikeoluwa Osei‐Owusu, Corrado Romano, Giuseppe Calabrese, Ornella Galesi, Jozef Gécz, Eric Haan, Judith D. Ranells, Melissa Racobaldo, Magnus Nordenskjöld, Suneeta Madan‐Khetarpal, Jessica Sebastian, Susie Ball, Xiaobing Zou, Jingping Zhao, Zhengmao Hu, Fan Xia, Pengfei Liu, Jill A. Rosenfeld, Bert B.A. de Vries, Raphael Bernier, Qing Xu, Honghui Li, Wei Xie, Robert B. Hufnagel, Evan E. Eichler, Kun Xia
Publicado 2019Artigo
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Biology
Genetics
Autism
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Autism spectrum disorder
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Fight-or-flight response
Haploinsufficiency
Heritability of autism
Macrocephaly
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Stress granule
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