GIGYF1 disruption associates with autism and impaired IGF-1R signaling

Autism spectrum disorder (ASD) represents a group of neurodevelopmental phenotypes with a strong genetic component. An excess of likely gene-disruptive (LGD) mutations in GIGYF1 was implicated in ASD. Here, we report that GIGYF1 is the second-most mutated gene among known ASD high–confidence risk ge...

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Detalles Bibliográficos
Autores principales: Chen, Guodong, Yu, Bin, Tan, Senwei, Tan, Jieqiong, Jia, Xiangbin, Zhang, Qiumeng, Zhang, Xiaolei, Jiang, Qian, Hua, Yue, Han, Yaoling, Luo, Shengjie, Hoekzema, Kendra, Bernier, Raphael A., Earl, Rachel K., Kurtz-Nelson, Evangeline C., Idleburg, Michaela J., Madan-Khetarpal, Suneeta, Clark, Rebecca, Sebastian, Jessica, Fernandez-Jaen, Alberto, Alvarez, Sara, King, Staci D., Ramos, Luiza L.P., Santos, Mara Lucia S.F., Martin, Donna M., Brooks, Dan, Symonds, Joseph D., Cutcutache, Ioana, Pan, Qian, Hu, Zhengmao, Yuan, Ling, Eichler, Evan E., Xia, Kun, Guo, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9525121/
https://www.ncbi.nlm.nih.gov/pubmed/35917186
http://dx.doi.org/10.1172/JCI159806

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9525121/
https://www.ncbi.nlm.nih.gov/pubmed/35917186
http://dx.doi.org/10.1172/JCI159806

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