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Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.
Castillo, Sandra D; Tzouanacou, Elena; Zaw-Thin, May; Berenjeno, Inma M; Parker, Victoria E R; Chivite, Iñigo; Milà-Guasch, Maria; Pearce, Wayne; Solomon, Isabelle; Angulo-Urarte, Ana; Figueiredo, Ana M; Dewhurst, Robert E; Knox, Rachel G; Clark, Graeme R; Scudamore, Cheryl L; Badar, Adam; Kalber, Tammy L; Foster, Julie; Stuckey, Daniel J; David, Anna L; Phillips, Wayne A; Lythgoe, Mark F; Wilson, Valerie; Semple, Robert K; Sebire, Neil J; Kinsler, Veronica A; Graupera, Mariona; Vanhaesebroeck, Bart.
Afiliación
  • Castillo SD; UCL Cancer Institute, University College London, London WC1E 6BT, UK. sandra.castillo@ucl.ac.uk bart.vanh@ucl.ac.uk.
  • Tzouanacou E; MRC Centre for Regenerative Medicine, School of Biological Sciences, University of Edinburgh, Edinburgh EH16 4UU, UK. Institut Pasteur, Département de Biologie du Développement, CNRS URA 2578, 75724 Paris cedex 15, France.
  • Zaw-Thin M; Centre for Advanced Biomedical Imaging, University College London, London WC1E 6BT, UK.
  • Berenjeno IM; UCL Cancer Institute, University College London, London WC1E 6BT, UK.
  • Parker VE; Institute of Metabolic Science, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
  • Chivite I; Vascular Signaling Laboratory, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona 08908, Spain.
  • Milà-Guasch M; UCL Cancer Institute, University College London, London WC1E 6BT, UK.
  • Pearce W; UCL Cancer Institute, University College London, London WC1E 6BT, UK.
  • Solomon I; UCL Cancer Institute, University College London, London WC1E 6BT, UK.
  • Angulo-Urarte A; Vascular Signaling Laboratory, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona 08908, Spain.
  • Figueiredo AM; Vascular Signaling Laboratory, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona 08908, Spain.
  • Dewhurst RE; MRC Centre for Regenerative Medicine, School of Biological Sciences, University of Edinburgh, Edinburgh EH16 4UU, UK.
  • Knox RG; Institute of Metabolic Science, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
  • Clark GR; Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0SP, UK.
  • Scudamore CL; Mary Lyon Centre, MRC Harwell, Harwell OX11 0RD, UK.
  • Badar A; Centre for Advanced Biomedical Imaging, University College London, London WC1E 6BT, UK.
  • Kalber TL; Centre for Advanced Biomedical Imaging, University College London, London WC1E 6BT, UK.
  • Foster J; Barts Cancer Institute, Queen Mary University of London, London EC1M 6BQ, UK.
  • Stuckey DJ; Centre for Advanced Biomedical Imaging, University College London, London WC1E 6BT, UK.
  • David AL; UCL Institute for Women's Health, London WC1E 6BT, UK.
  • Phillips WA; Cancer Biology and Surgical Oncology Laboratory, Peter MacCallum Cancer Centre, Melbourne, Victoria 3002, Australia. Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria 3010, Australia. Department of Surgery (St. Vincent's Hospital), University of Melbourne, Park
  • Lythgoe MF; Centre for Advanced Biomedical Imaging, University College London, London WC1E 6BT, UK.
  • Wilson V; MRC Centre for Regenerative Medicine, School of Biological Sciences, University of Edinburgh, Edinburgh EH16 4UU, UK.
  • Semple RK; Institute of Metabolic Science, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
  • Sebire NJ; UCL Institute of Child Health, London WC1N 1EH, UK. Great Ormond Street Hospital for Children, NHS Foundation Trust, London WC1N 3JH, UK.
  • Kinsler VA; UCL Institute of Child Health, London WC1N 1EH, UK. Great Ormond Street Hospital for Children, NHS Foundation Trust, London WC1N 3JH, UK.
  • Graupera M; Vascular Signaling Laboratory, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona 08908, Spain.
  • Vanhaesebroeck B; UCL Cancer Institute, University College London, London WC1E 6BT, UK. sandra.castillo@ucl.ac.uk bart.vanh@ucl.ac.uk.
Sci Transl Med ; 8(332): 332ra43, 2016 Mar 30.
Article en En | MEDLINE | ID: mdl-27030595
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fosfatidilinositol 3-Quinasas / Malformaciones Vasculares / Mutación Límite: Animals / Humans Idioma: En Revista: Sci Transl Med Asunto de la revista: CIENCIA / MEDICINA Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fosfatidilinositol 3-Quinasas / Malformaciones Vasculares / Mutación Límite: Animals / Humans Idioma: En Revista: Sci Transl Med Asunto de la revista: CIENCIA / MEDICINA Año: 2016 Tipo del documento: Article