| http://purl.uniprot.org/citations/37738575 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37738575 | http://www.w3.org/2000/01/rdf-schema#comment | "Chromatin remodellers are among the most important risk genes associated with neurodevelopmental disorders (NDDs), however, their functions during brain development are not fully understood. Here, we focused on Sifrim-Hitz-Weiss Syndrome (SIHIWES)-an intellectual disability disorder caused by mutations in the CHD4 chromodomain helicase gene. We utilized mouse genetics to excise the Chd4 ATPase/helicase domain-either constitutively, or conditionally in the developing telencephalon. Conditional heterozygotes exhibited no change in cortical size and cellular composition, and had only subtle behavioral phenotypes. Telencephalon-specific conditional knockouts had marked reductions in cortical growth, reduced numbers of upper-layer neurons, and exhibited alterations in anxiety and repetitive behaviors. Despite the fact that whole-body heterozygotes exhibited comparable growth defects, they were unaffected in these behaviors, but instead exhibited female-specific alterations in learning and memory. These data reveal unexpected phenotypic divergence arising from differences in the spatiotemporal deployment of loss-of-function manipulations, underscoring the importance of context in chromatin remodeller function during neurodevelopment."xsd:string |
| http://purl.uniprot.org/citations/37738575 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddad157"xsd:string |
| http://purl.uniprot.org/citations/37738575 | http://purl.uniprot.org/core/author | "Mattar P."xsd:string |
| http://purl.uniprot.org/citations/37738575 | http://purl.uniprot.org/core/author | "Joshi S.V."xsd:string |
| http://purl.uniprot.org/citations/37738575 | http://purl.uniprot.org/core/author | "Larrigan S."xsd:string |
| http://purl.uniprot.org/citations/37738575 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37738575 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/37738575 | http://purl.uniprot.org/core/pages | "3361-3373"xsd:string |
| http://purl.uniprot.org/citations/37738575 | http://purl.uniprot.org/core/title | "Divergent phenotypes in constitutive versus conditional mutant mouse models of Sifrim-Hitz-Weiss syndrome."xsd:string |
| http://purl.uniprot.org/citations/37738575 | http://purl.uniprot.org/core/volume | "32"xsd:string |
| http://purl.uniprot.org/citations/37738575 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/37738575 |
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