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Convergence of spectrums: neuronal gene network states in autism spectrum disorder.
Current Opinion in Neurobiology ( IF 4.8 ) Pub Date : 2019-06-18 , DOI: 10.1016/j.conb.2019.04.011
Josefa M Sullivan 1 , Silvia De Rubeis 2 , Anne Schaefer 1
Affiliation  

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by social deficits and restrictive and/or repetitive behaviors. The breadth of ASD symptoms is paralleled by the multiplicity of genes that have been implicated in its etiology. Initial findings revealed numerous ASD risk genes that contribute to synaptic function. More recently, genomic and gene expression studies point to altered chromatin function and impaired transcriptional control as additional risk factors for ASD. The consequences of impaired transcriptional alterations in ASD involve consistent changes in synaptic gene expression and cortical neuron specification during brain development. The multiplicity of genetic and environmental factors associated with ASD risk and their convergence onto common molecular pathways in neurons point to ASD as a disorder of gene regulatory networks.

中文翻译:

频谱的收敛:自闭症频谱障碍中的神经元基因网络状态。

自闭症谱系障碍(ASD)是一种常见的神经发育障碍,其特征是社交缺陷以及限制性和/或重复性行为。ASD症状的广度与病因中涉及的多种基因平行。初步发现揭示了许多有助于突触功能的ASD风险基因。最近,基因组和基因表达研究指出染色质功能的改变和转录控制的受损是ASD的其他危险因素。ASD转录改变受损的后果涉及大脑发育过程中突触基因表达和皮质神经元规格的一致变化。
更新日期:2019-06-18
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