{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kim J"],"funding":["Simons Foundation","U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH)","NICHD NIH HHS","NIMH NIH HHS","NIGMS NIH HHS"],"pagination":["1310-1321"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11189748"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["29(5)"],"pubmed_abstract":["Neurodevelopmental disorders (NDDs) are polygenic in nature and copy number variants (CNVs) are ideal candidates to study the nature of this polygenic risk. The disruption of striatal circuits is considered a central mechanism in NDDs. The 16p11.2 hemi-deletion (16p11.2 del/+) is one of the most common CNVs associated with NDD, and 16p11.2 del/+ mice show sex-specific striatum-related behavioral phenotypes. However, the critical genes among the 27 genes in the 16p11.2 region that underlie these phenotypes remain unknown. Previously, we applied a novel strategy to identify candidate genes associated with the sex-specific phenotypes of 16p11.2 del/+ mice and highlighted three genes within the deleted region: thousand and one amino acid protein kinase 2 (Taok2), seizure-related 6 homolog-like"],"journal":["Molecular psychiatry"],"pubmed_title":["Dissecting 16p11.2 hemi-deletion to study sex-specific striatal phenotypes of neurodevelopmental disorders."],"pmcid":["PMC11189748"],"funding_grant_id":["345034","P50 HD103556","F31 MH134542","T32 GM067795","R01 MH087463","MH 087463"],"pubmed_authors":["Baldwin E","Peterson Z","Nickl-Jockschat T","Abel T","Kelvington B","Vanrobaeys Y","Kim J","Gaine ME"],"additional_accession":[]},"is_claimable":false,"name":"Dissecting 16p11.2 hemi-deletion to study sex-specific striatal phenotypes of neurodevelopmental disorders.","description":"Neurodevelopmental disorders (NDDs) are polygenic in nature and copy number variants (CNVs) are ideal candidates to study the nature of this polygenic risk. The disruption of striatal circuits is considered a central mechanism in NDDs. The 16p11.2 hemi-deletion (16p11.2 del/+) is one of the most common CNVs associated with NDD, and 16p11.2 del/+ mice show sex-specific striatum-related behavioral phenotypes. However, the critical genes among the 27 genes in the 16p11.2 region that underlie these phenotypes remain unknown. Previously, we applied a novel strategy to identify candidate genes associated with the sex-specific phenotypes of 16p11.2 del/+ mice and highlighted three genes within the deleted region: thousand and one amino acid protein kinase 2 (Taok2), seizure-related 6 homolog-like","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 May","modification":"2025-04-20T02:13:08.595Z","creation":"2025-04-20T02:13:08.595Z"},"accession":"S-EPMC11189748","cross_references":{"pubmed":["38278994"],"doi":["10.1038/s41380-024-02411-0"]}}