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• W4386945369 abstract "Abstract Involvement of the glutamate system, particularly N-methyl-D-aspartate (NMDA) receptor hypofunction, has long been postulated to be part of the pathophysiology of schizophrenia. An important development is provided by recent data that strongly implicate GRIN2A , the gene encoding the NR2A (GluN2A) NMDA receptor subunit, in the aetiology of the disorder. Rare variants and common variants are both robustly associated with genetic risk for schizophrenia. Some of the rare variants are point mutations likely affecting channel function, but most are predicted to cause protein truncation and thence result, like the common variants, in reduced gene expression. We review the genomic evidence, and the findings from Grin2a mutant mice and other models which give clues as to the likely phenotypic impacts of GRIN2A genetic variation. We suggest that one consequence of NR2A dysfunction is impairment in a form of hippocampal synaptic plasticity, producing deficits in short-term habituation and thence elevated and dysregulated levels of attention, a phenotype of relevance to schizophrenia and its cognitive aspects." @default.
• W4386945369 created "2023-09-23" @default.
• W4386945369 creator A5041981916 @default.
• W4386945369 creator A5050681797 @default.
• W4386945369 date "2023-09-22" @default.
• W4386945369 modified "2023-10-17" @default.
• W4386945369 title "GRIN2A (NR2A): a gene contributing to glutamatergic involvement in schizophrenia" @default.
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• W4386945369 doi "https://doi.org/10.1038/s41380-023-02265-y" @default.
• W4386945369 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37736757" @default.
• W4386945369 hasPublicationYear "2023" @default.
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