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Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes

机译:转录调节紊乱:多个畸形综合征的新兴类别。

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Some genetic disorders caused by mutations in genes encoding components of the transcriptional machinery as well as proteins involved in epigenetic modification of the genome share many overlapping features, such as facial dysmorphisms, growth problems and developmental delay/intellectual disability. As a basis for some shared phenotypic characteristics in these syndromes, a similar transcriptome disturbance, characterized by global transcriptional dysregulation, is believed to play a major role. In this review article, a general overview of gene transcription is provided, and the current knowledge of the mechanisms underlying some disorders of transcriptional regulation, such as Rubinstein- Taybi, Coffin-Siris, Cornelia de Lange, and CHOPS syndromes, are discussed.
机译:由转录机制的编码基因突变以及与基因组的表观遗传修饰有关的蛋白质突变引起的某些遗传病具有许多重叠的特征,例如面部畸形,生长问题和发育迟缓/智力障碍。作为这些综合征中某些共有表型特征的基础,据信以总体转录失调为特征的类似转录组紊乱起着主要作用。在这篇综述文章中,提供了基因转录的一般概述,并讨论了一些转录调控障碍的机制的当前知识,例如Rubinstein-Taybi,Coffin-Siris,Cornelia de Lange和CHOPS综合征。

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