GIGYF1 disruption associates with autism and impaired IGF-1R signaling
GIGYF1 disruption associates with autism and impaired IGF-1R signaling
About this item
Full title
Author / Creator
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 and Guo, Hui
Publisher
Ann Arbor: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
Ann Arbor: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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 genes. We investigated the inheritance of 46 GIGYF1...
Alternative Titles
Full title
GIGYF1 disruption associates with autism and impaired IGF-1R signaling
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_7a5c86206a264d7985452b8766ff09b2
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7a5c86206a264d7985452b8766ff09b2
Other Identifiers
ISSN
1558-8238,0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI159806
