FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387496677> ?p ?o ?g. }

• W4387496677 endingPage "S139" @default.
• W4387496677 startingPage "S138" @default.
• W4387496677 abstract "Large recurrent CNVs, such as 1q21.1 and 22q11.2, have been associated with an increased risk of psychiatric disorders and alterations in brain structure including cortical surface area (SA). However, the influences of ultra-rare nonrecurrent CNVs on SA and the neurodevelopmental mechanisms underlying the effects of CNVs on cortical expansion remain largely unknown. The radial unit hypothesis, along with recent studies, suggests that the tangential growth of the cerebral cortex during the prenatal and perinatal periods plays a crucial role in determining individual variations in SA. In this study, we first aggregated nonrecurrent CNVs from three community-based cohorts (IMAGEN study, Saguenay Youth Study, and the UK biobank) to investigate the effects of nonrecurrent CNV on SA across 11 regions. Simultaneously, we examined the effects of recurrent CNVs, including 1q21.1, 16p.11.2 and 22q11.2, on SA. Furthermore, we integrated data on gene expression in cerebral cortex during midgestation (12-22 postconceptional weeks) to investigate the cellular mechanisms during prenatal period behind the effects of CNVs on cortical expansion. Specifically, we tested spatial correlations between CNV effects on SA and the expression patterns of cell-specific genes. Additionally, we utilized expression quantitative trait loci (eQTL) identified in the fetal cortex to examine the relationships between expression levels of individual genes within recurrent CNVs and cortical expansion. Our findings demonstrate that the burden of nonrecurrent CNV deletions (not duplication) was associated with a reduction in SA in the general population. We also observed negative effects on SA of 1q21.1 and 22q11.2 deletion, and 16p11.2 duplication. Individuals with 1q21.1 duplication and 16p11.2 deletion had larger SA than non-carriers. Importantly, the effects of different CNVs on SA were associated with the spatial expression patterns of genes related to neural progenitor cells during prenatal development. Specifically, with the exception of the 16p11.2 duplication, large CNV effects on SA were preferentially localized to cortical regions with high prenatal expression of genes related to neural progenitor cells (radial glia cell and IPC), while exhibiting low expression of genes signature for differentiated neurons (excitatory and inhibitory) and endothelial cell. Lastly, we revealed that approximately half of the genes within recurrent CNVs showed significant co-expression with neural progenitor cells, and their expression levels in the fetal cortex were correlated with SA in adulthood. Regardless of the differences in spatial patterns of CNV effects and possible divergent molecular mechanisms, we found a convergence in spatial correlations between the profiles of CNV effects on SA and expression of cell-type genes during the midgestation period. This indicates that the disruption in expansion and differentiation of neural progenitor cells may serve as a convergence cellular mechanism for the effect of different CNVs on the cortical expansion." @default.
• W4387496677 created "2023-10-11" @default.
• W4387496677 creator A5008874281 @default.
• W4387496677 creator A5051082015 @default.
• W4387496677 creator A5064589849 @default.
• W4387496677 creator A5068287372 @default.
• W4387496677 creator A5076029433 @default.
• W4387496677 date "2023-10-01" @default.
• W4387496677 modified "2023-10-12" @default.
• W4387496677 title "W66. COPY NUMBER VARIANTS AND THE TANGENTIAL GROWTH OF THE CEREBRAL CORTEX" @default.
• W4387496677 doi "https://doi.org/10.1016/j.euroneuro.2023.08.253" @default.
• W4387496677 hasPublicationYear "2023" @default.
• W4387496677 type Work @default.
• W4387496677 citedByCount "0" @default.
• W4387496677 crossrefType "journal-article" @default.
• W4387496677 hasAuthorship W4387496677A5008874281 @default.
• W4387496677 hasAuthorship W4387496677A5051082015 @default.
• W4387496677 hasAuthorship W4387496677A5064589849 @default.
• W4387496677 hasAuthorship W4387496677A5068287372 @default.
• W4387496677 hasAuthorship W4387496677A5076029433 @default.
• W4387496677 hasConcept C104317684 @default.
• W4387496677 hasConcept C120821319 @default.
• W4387496677 hasConcept C141231307 @default.
• W4387496677 hasConcept C169760540 @default.
• W4387496677 hasConcept C2777348757 @default.
• W4387496677 hasConcept C2781041448 @default.
• W4387496677 hasConcept C2908647359 @default.
• W4387496677 hasConcept C2993858690 @default.
• W4387496677 hasConcept C54355233 @default.
• W4387496677 hasConcept C71924100 @default.
• W4387496677 hasConcept C7602840 @default.
• W4387496677 hasConcept C81941488 @default.
• W4387496677 hasConcept C86803240 @default.
• W4387496677 hasConcept C99454951 @default.
• W4387496677 hasConceptScore W4387496677C104317684 @default.
• W4387496677 hasConceptScore W4387496677C120821319 @default.
• W4387496677 hasConceptScore W4387496677C141231307 @default.
• W4387496677 hasConceptScore W4387496677C169760540 @default.
• W4387496677 hasConceptScore W4387496677C2777348757 @default.
• W4387496677 hasConceptScore W4387496677C2781041448 @default.
• W4387496677 hasConceptScore W4387496677C2908647359 @default.
• W4387496677 hasConceptScore W4387496677C2993858690 @default.
• W4387496677 hasConceptScore W4387496677C54355233 @default.
• W4387496677 hasConceptScore W4387496677C71924100 @default.
• W4387496677 hasConceptScore W4387496677C7602840 @default.
• W4387496677 hasConceptScore W4387496677C81941488 @default.
• W4387496677 hasConceptScore W4387496677C86803240 @default.
• W4387496677 hasConceptScore W4387496677C99454951 @default.
• W4387496677 hasLocation W43874966771 @default.
• W4387496677 hasOpenAccess W4387496677 @default.
• W4387496677 hasPrimaryLocation W43874966771 @default.
• W4387496677 hasRelatedWork W1977862807 @default.
• W4387496677 hasRelatedWork W1979058569 @default.
• W4387496677 hasRelatedWork W2028976524 @default.
• W4387496677 hasRelatedWork W2038764394 @default.
• W4387496677 hasRelatedWork W2056898991 @default.
• W4387496677 hasRelatedWork W2081420039 @default.
• W4387496677 hasRelatedWork W2108754964 @default.
• W4387496677 hasRelatedWork W2115382138 @default.
• W4387496677 hasRelatedWork W2166735118 @default.
• W4387496677 hasRelatedWork W4280645807 @default.
• W4387496677 hasVolume "75" @default.
• W4387496677 isParatext "false" @default.
• W4387496677 isRetracted "false" @default.
• W4387496677 workType "article" @default.