矛盾的 TGF-β 血管病变。
The paradoxical TGF-β vasculopathies.
出版信息
Nat Genet. 2012 Jul 27;44(8):838-9. doi: 10.1038/ng.2366.
Abstract
Two new studies show that haploinsufficiency for causes a familial syndrome of thoracic aortic aneurysms and dissections with other clinical features that overlap the Marfan, Loeys-Dietz spectrum of syndromes. Their finding of loss-of-function mutations in yet another transforming growth factor (TGF)-β pathway gene reinforces the seeming paradox of observed increases in the downstream TGF-β signaling pathway.
摘要
两项新研究表明， 杂合性缺失会导致一种家族性胸主动脉瘤和夹层的综合征，其临床表现与马凡综合征、Loeys-Dietz 综合征谱重叠。他们在另一个转化生长因子 (TGF)-β 通路基因中发现了功能丧失突变，这进一步证实了下游 TGF-β 信号通路观察到的增加似乎存在矛盾。
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