The paradoxical TGF-β vasculopathies

被引：56

作者：

Akhurst, Rosemary J. ^{[1
,2
]}

机构：

[1] Univ Calif San Francisco, Dept Anat, Helen Diller Family Comprehens Canc Ctr, San Francisco, CA 94143 USA

[2] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA

来源：

NATURE GENETICS | 2012年 / 44卷 / 08期

关键词：

THORACIC AORTIC-ANEURYSMS; MARFAN-SYNDROME; MUTATIONS; CELLS;

D O I：

10.1038/ng.2366

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two new studies show that haploinsufficiency for TGFB2 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)-beta pathway gene reinforces the seeming paradox of observed increases in the downstream TGF-beta signaling pathway.

引用

页码：838 / 839

页数：3

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