Research ArticleFibrosis

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

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Science Translational Medicine  02 Mar 2016:
Vol. 8, Issue 328, pp. 328ra30
DOI: 10.1126/scitranslmed.aad7666

Article Information

vol. 8 no. 328 328ra30

PubMed: 
Print ISSN: 
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History: 
  • Received for publication October 28, 2015
  • Accepted for publication January 21, 2016
  • .

Author Information

  1. Ernest Turro1,2,3,4,
  2. Daniel Greene1,3,4,
  3. Anouck Wijgaerts5,
  4. Chantal Thys5,
  5. Claire Lentaigne6,7,
  6. Tadbir K. Bariana8,9,
  7. Sarah K. Westbury10,
  8. Anne M. Kelly1,2,
  9. Dominik Selleslag11,
  10. Jonathan C. Stephens1,2,4,
  11. Sofia Papadia1,4,
  12. Ilenia Simeoni1,4,
  13. Christopher J. Penkett1,4,
  14. Sofie Ashford1,4,
  15. Antony Attwood1,2,4,
  16. Steve Austin12,
  17. Tamam Bakchoul13,
  18. Peter Collins14,
  19. Sri V. V. Deevi1,4,
  20. Rémi Favier15,16,
  21. Myrto Kostadima1,2,
  22. Michele P. Lambert17,18,
  23. Mary Mathias19,
  24. Carolyn M. Millar6,7,
  25. Kathelijne Peerlinck5,
  26. David J. Perry20,
  27. Sol Schulman21,
  28. Deborah Whitehorn1,2,
  29. Christine Wittevrongel5,
  30. BRIDGE-BPD Consortium*,
  31. Marc De Maeyer22,
  32. Augusto Rendon1,23,
  33. Keith Gomez8,9,
  34. Wendy N. Erber24,
  35. Andrew D. Mumford10,25,
  36. Paquita Nurden26,
  37. Kathleen Stirrups1,4,
  38. John R. Bradley4,27,
  39. F. Lucy Raymond4,28,
  40. Michael A. Laffan6,7,
  41. Chris Van Geet5,
  42. Sylvia Richardson3,
  43. Kathleen Freson5,, and
  44. Willem H. Ouwehand1,2,4,29,
  1. 1Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK.
  2. 2National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK.
  3. 3Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge CB2 0SR, UK.
  4. 4National Institute for Health Research (NIHR) BioResource–Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK.
  5. 5Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, 3000 Leuven, Belgium.
  6. 6Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London W12 0HS, UK.
  7. 7Imperial College Healthcare NHS Trust, Du Cane Road, London W12 0HS, UK.
  8. 8Department of Haematology, University College London Cancer Institute, London WC1E 6BT, UK.
  9. 9Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London NW3 2QG, UK.
  10. 10School of Clinical Sciences, University of Bristol, Bristol BS2 8DZ, UK.
  11. 11Academisch Ziekenhuis Sint-Jan Brugge-Oostende, 8000 Brugge, Belgium.
  12. 12Department of Haematology, Guy’s and St Thomas’ NHS Foundation Trust, London SE1 7EH, UK.
  13. 13Institute for Immunology and Transfusion Medicine, Universitätsmedizin Greifswald, 17475 Greifswald, Germany.
  14. 14Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.
  15. 15Assistance Publique-Hôpitaux de Paris, Armand Trousseau Children Hospital, 75012 Paris, France.
  16. 16INSERM U1170, 94805 Villejuif, France.
  17. 17Division of Hematology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  18. 18Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
  19. 19Department of Haematology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
  20. 20Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
  21. 21Beth Israel Deaconess Medical Centre, Harvard Medical School, Boston, MA 02215, USA.
  22. 22Biochemistry, Molecular and Structural Biology Section, University of Leuven, 3001 Leuven, Belgium.
  23. 23Genomics England Ltd., London EC1M 6BQ, UK.
  24. 24Pathology and Laboratory Medicine, University of Western Australia, Crawley, Western Australia WA 6009, Australia.
  25. 25School of Cellular and Molecular Medicine, University of Bristol, Bristol BS8 1TD, UK.
  26. 26Institut Hospitalo-Universitaire LIRYC, PTIB, Hôpital Xavier Arnozan, 33600 Pessac, France.
  27. 27Research and Development, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.
  28. 28Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.
  29. 29Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  1. Corresponding author. E-mail: kathleen.freson{at}med.kuleuven.be
  • These authors contributed equally to this work.

  • * A list of additional members of the BRIDGE-BPD Consortium is provided in the Supplementary Materials.

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