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- W2782325897 endingPage "327" @default.
- W2782325897 startingPage "306" @default.
- W2782325897 abstract "The complexity of the human brain emerges from a long and finely tuned developmental process orchestrated by the crosstalk between genome and environment. Vis à vis other species, the human brain displays unique functional and morphological features that result from this extensive developmental process that is, unsurprisingly, highly vulnerable to both genetically and environmentally induced alterations. One of the most striking outcomes of the recent surge of sequencing-based studies on neurodevelopmental disorders (NDDs) is the emergence of chromatin regulation as one of the two domains most affected by causative mutations or Copy Number Variations besides synaptic function, whose involvement had been largely predicted for obvious reasons. These observations place chromatin dysfunction at the top of the molecular pathways hierarchy that ushers in a sizeable proportion of NDDs and that manifest themselves through synaptic dysfunction and recurrent systemic clinical manifestation. Here we undertake a conceptual investigation of chromatin dysfunction in NDDs with the aim of systematizing the available evidence in a new framework: first, we tease out the developmental vulnerabilities in human corticogenesis as a structuring entry point into the causation of NDDs; second, we provide a much needed clarification of the multiple meanings and explanatory frameworks revolving around epigenetics, highlighting those that are most relevant for the analysis of these disorders; finally we go in-depth into paradigmatic examples of NDD-causing chromatin dysregulation, with a special focus on human experimental models and datasets." @default.
- W2782325897 created "2018-01-12" @default.
- W2782325897 creator A5010954364 @default.
- W2782325897 creator A5034202722 @default.
- W2782325897 creator A5042225794 @default.
- W2782325897 creator A5087706646 @default.
- W2782325897 date "2018-06-01" @default.
- W2782325897 modified "2023-10-18" @default.
- W2782325897 title "The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes" @default.
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