Research ArticleVASCULAR MALFORMATIONS

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans

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Science Translational Medicine  30 Mar 2016:
Vol. 8, Issue 332, pp. 332ra43
DOI: 10.1126/scitranslmed.aad9982

Article Information

vol. 8 no. 332 332ra43

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History: 
  • Received for publication October 29, 2015
  • Accepted for publication February 4, 2016
  • .

Author Information

  1. Sandra D. Castillo1,*,
  2. Elena Tzouanacou2,3,
  3. May Zaw-Thin4,
  4. Inma M. Berenjeno1,
  5. Victoria E.R. Parker5,
  6. Iñigo Chivite6,
  7. Maria Milà-Guasch1,
  8. Wayne Pearce1,
  9. Isabelle Solomon1,
  10. Ana Angulo-Urarte6,
  11. Ana M. Figueiredo6,
  12. Robert E. Dewhurst2,,
  13. Rachel G. Knox5,
  14. Graeme R. Clark7,
  15. Cheryl L. Scudamore8,
  16. Adam Badar4,
  17. Tammy L. Kalber4,
  18. Julie Foster9,
  19. Daniel J. Stuckey4,
  20. Anna L. David10,
  21. Wayne A. Phillips11,12,13,
  22. Mark F. Lythgoe4,
  23. Valerie Wilson2,
  24. Robert K. Semple5,
  25. Neil J. Sebire14,15,
  26. Veronica A. Kinsler14,15,
  27. Mariona Graupera6, and
  28. Bart Vanhaesebroeck1,*,
  1. 1UCL Cancer Institute, University College London, London WC1E 6BT, UK.
  2. 2MRC Centre for Regenerative Medicine, School of Biological Sciences, University of Edinburgh, Edinburgh EH16 4UU, UK.
  3. 3Institut Pasteur, Département de Biologie du Développement, CNRS URA 2578, 75724 Paris cedex 15, France.
  4. 4Centre for Advanced Biomedical Imaging, University College London, London WC1E 6BT, UK.
  5. 5Institute of Metabolic Science, University of Cambridge, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK.
  6. 6Vascular Signaling Laboratory, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), L’Hospitalet de Llobregat, Barcelona 08908, Spain.
  7. 7Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0SP, UK.
  8. 8Mary Lyon Centre, MRC Harwell, Harwell OX11 0RD, UK.
  9. 9Barts Cancer Institute, Queen Mary University of London, London EC1M 6BQ, UK.
  10. 10UCL Institute for Women’s Health, London WC1E 6BT, UK.
  11. 11Cancer Biology and Surgical Oncology Laboratory, Peter MacCallum Cancer Centre, Melbourne, Victoria 3002, Australia.
  12. 12Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria 3010, Australia.
  13. 13Department of Surgery (St. Vincent’s Hospital), University of Melbourne, Parkville, Victoria 3010, Australia.
  14. 14UCL Institute of Child Health, London WC1N 1EH, UK.
  15. 15Great Ormond Street Hospital for Children, NHS Foundation Trust, London WC1N 3JH, UK.
  1. *Corresponding author. E-mail: sandra.castillo{at}ucl.ac.uk (S.D.C.); bart.vanh{at}ucl.ac.uk (B.V.)
    • Present address: Drug Discovery Unit, Telethon Kids Institute, University of Western Australia, P. O. Box 855, West Perth, Western Australia 6872, Australia (academic affiliation); Phylogica, P. O. Box 855, West Perth, Western Australia 6872, Australia (industry affiliation).

    • Joint last authors.

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