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The paradoxical TGF-β vasculopathies

Nature Genetics volume 44, pages 838–839 (2012)Cite this article

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)-β pathway gene reinforces the seeming paradox of observed increases in the downstream TGF-β signaling pathway.

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Figure 1: Canonical and non-canonical TGF-β signaling pathways.

Katie Vicari

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  1. Department of Anatomy and Institute of Human Genetics, Rosemary J. Akhurst is at the Helen Diller Family Comprehensive Cancer Center, University of California at San Francisco, San Francisco, California, USA.,

    Rosemary J. Akhurst

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  1. Rosemary J. Akhurst
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Correspondence to Rosemary J. Akhurst.

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Akhurst, R. The paradoxical TGF-β vasculopathies. Nat Genet 44, 838–839 (2012). https://doi.org/10.1038/ng.2366

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