马赛克 RAS 通路病。
Mosaic RASopathies.
机构信息
Department of Dermatology, University of Regensburg, Regensburg, Germany.
出版信息
Cell Cycle. 2013 Jan 1;12(1):43-50. doi: 10.4161/cc.23108. Epub 2012 Dec 19.
Abstract
"RASopathies" are a group of developmental syndromes with partly overlapping clinical symptoms that are caused by germline mutations of genes within the Ras/MAPK signaling pathway. Mutations affecting this pathway can also occur in a mosaic state, resulting in congenital syndromes often distinct from those generated by the corresponding germline mutations. For syndromes caused by mosaic mutations of the Ras/MAPK signaling pathway, the term "mosaic RASopathies" has been proposed. In the following article, genetic and phenotypic aspects of mosaic RASopathies will be discussed.
摘要
“RAS 病”是一组发育综合征，具有部分重叠的临床症状，由 Ras/MAPK 信号通路中的种系基因突变引起。影响该途径的突变也可以以镶嵌状态发生，导致先天性综合征通常与相应的种系突变产生的综合征不同。对于 Ras/MAPK 信号通路镶嵌突变引起的综合征，提出了“镶嵌 RAS 病”一词。在本文中，将讨论镶嵌 RAS 病的遗传和表型方面。
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