| http://purl.uniprot.org/citations/28671691 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28671691 | http://www.w3.org/2000/01/rdf-schema#comment | "The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. We examined the impact of germline heterozygous frameshift Chd8 mutation on neurodevelopment in mice. Chd8+/del5 mice displayed normal social interactions with no repetitive behaviors but exhibited cognitive impairment correlated with increased regional brain volume, validating that phenotypes of Chd8+/del5 mice overlap pathology reported in humans with CHD8 mutations. We applied network analysis to characterize neurodevelopmental gene expression, revealing widespread transcriptional changes in Chd8+/del5 mice across pathways disrupted in neurodevelopmental disorders, including neurogenesis, synaptic processes and neuroimmune signaling. We identified a co-expression module with peak expression in early brain development featuring dysregulation of RNA processing, chromatin remodeling and cell-cycle genes enriched for promoter binding by Chd8, and we validated increased neuronal proliferation and developmental splicing perturbation in Chd8+/del5 mice. This integrative analysis offers an initial picture of the consequences of Chd8 haploinsufficiency for brain development."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.org/dc/terms/identifier | "doi:10.1038/nn.4592"xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Pennacchio L.A."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Visel A."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Louis S."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Crawley J.N."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Ellegood J."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Lerch J.P."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Nord A.S."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Riyadh M.A."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Afzal V."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Dickel D.E."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Pride M.C."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Silverman J.L."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Zarbalis K.S."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Kaushik G."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Wade A.A."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Plajzer-Frick I."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Stradleigh T.W."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Copping N.A."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Schaffler M.D."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Su-Feher L."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Mannion B.J."xsd:string |
| http://purl.uniprot.org/citations/28671691 | http://purl.uniprot.org/core/author | "Catta-Preta R."xsd:string |