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Neurodevelopmental disorders: mechanisms and boundary definitions from genomes interactomes and proteomes

机译:神经发育障碍:基因组相互作用组和蛋白质组的机制和边界定义

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摘要

Neurodevelopmental disorders such as intellectual disability, autism spectrum disorder and schizophrenia lack precise boundaries in their clinical definitions, epidemiology, genetics and protein–protein interactomes. This calls into question the appropriateness of current categorical disease concepts. Recently, there has been a rising tide to reformulate neurodevelopmental nosological entities from biology upward. To facilitate this developing trend, we propose that identification of unique proteomic signatures that can be strongly associated with patient's risk alleles and proteome-interactome-guided exploration of patient genomes could define biological mechanisms necessary to reformulate disorder definitions.
机译:神经发育障碍,例如智障,自闭症谱系障碍和精神分裂症,在其临床定义,流行病学,遗传学和蛋白质-蛋白质相互作用组方面缺乏明确的界限。这就质疑了当前分类疾病概念的适当性。近来,从生物学上重新制定神经发育的神经学实体的趋势正在上升。为了促进这种发展趋势,我们建议,可以与患者的风险等位基因密切相关的独特蛋白质组学特征的识别,以及蛋白质组-相互作用组指导的患者基因组探索,可以定义重新定义疾病定义所必需的生物学机制。

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