Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News & Views
  • Published:

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.

Access through your institution
Buy or subscribe

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Access through your institution

Buy this article

  • Purchase on SpringerLink
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

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

Katie Vicari

References

  1. Boileau, C. et al. Nat. Genet. 44, 916–921 (2012).

    Article  CAS  Google Scholar 

  2. Lindsay, M.E. et al. Nat. Genet. 44, 922–927 (2012).

    Article  CAS  Google Scholar 

  3. Goudie, D.R. et al. Nat. Genet. 43, 365–369 (2011).

    Article  CAS  Google Scholar 

  4. Heldin, C.H. & Moustakas, A. Cell Tissue Res. 347, 21–36 (2012).

    Article  CAS  Google Scholar 

  5. Mu, Y. et al. Cell Tissue Res. 347, 11–20 (2012).

    Article  CAS  Google Scholar 

  6. Carta, L. et al. J. Biol. Chem. 284, 5630–5636 (2009).

    Article  CAS  Google Scholar 

  7. Larrivée, B. et al. Dev. Cell 22, 489–500 (2012).

    Article  Google Scholar 

  8. de Martin, R. et al. EMBO J. 6, 3673–3677 (1987).

    Article  CAS  Google Scholar 

  9. Zhang, H., Yang, P., Zhou, H. Meng, Q. & Huang, X. Immunology 124, 304–314 (2008).

    Article  CAS  Google Scholar 

  10. Shimizu, C. et al. Circ. Cardiovasc. Genet. 4, 16–25 (2011).

    Article  CAS  Google Scholar 

  11. He, R. et al. J. Thorac. Cardiovasc. Surg. 136, 922–929 (2008).

    Article  Google Scholar 

  12. Wang, W. et al. Circ. Res. 98, 1032–1039 (2006).

    Article  CAS  Google Scholar 

  13. Rodíiguez-Vita, J. et al. Circulation 111, 2509–2517 (2005).

    Article  Google Scholar 

  14. Akhurst, R.J. & Hata, A. Nat. Rev. Drug Discov. (in the press).

  15. Habashi, J.P. et al. Science 312, 117–121 (2006).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  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

Authors
  1. Rosemary J. Akhurst
    View author publications

    You can also search for this author inPubMed Google Scholar

Corresponding author

Correspondence to Rosemary J. Akhurst.

Ethics declarations

Competing interests

The author declares no competing financial interests.

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng.2366

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing