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Keywords: neurodevelopmental disorders
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Biochem Soc Trans (2024) BST20220926.
Published: 30 January 2024
.... I endeavour to highlight some of the critical questions that still require careful and concerted attention over the next decade to bring us closer to the goal of understanding the salient mechanisms whereby CHD8 deficiency causes neurodevelopmental disorders. Correspondence: M. Albert Basson...
Biochem Soc Trans (2023) 51 (2): 703–713.
Published: 16 March 2023
... structures such as topologically associated domains, impacts the kinetics of transcription. This review discusses the dynamics of these various levels of chromatin structure and their influence on the expression of ARGs. activity-regulated gene expression chromatin neurodevelopmental disorders...
Biochem Soc Trans (2021) 49 (4): 1567–1588.
Published: 09 July 2021
... signalling and physiology, including in brain function and development. Here, we review current knowledge on PP2A gene mutations causally involved in neurodevelopmental disorders and intellectual disability, focusing on PPP2CA , PPP2R1A and PPP2R5D . We provide insights into the impact of these mutations...
Biochem Soc Trans (2020) 48 (3): 1199–1211.
Published: 15 May 2020
... in language and motor skills, as seen in many neurodevelopmental disorders (NDD). Recent widespread high-throughput approaches that utilize whole-exome sequencing or whole-genome sequencing have allowed for a considerable increase in the identification of these pathogenic variants in monogenic forms of ID...