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

• DOI: 10.1126/scitranslmed.aad7666
• Publication Date: 2016-03-02T19:53:20Z
• Authors: Ernest Turro; Daniel Greene; Anouck Wijgaerts; Chantal Thys; Claire Lentaigne; Tadbir K. Bariana; Sarah K. Westbury; Anne M. Kelly; Dominik Selleslag; Jonathan C. Stephens; Sofia Papadia; Ilenia Simeoni; Christopher J. Pe...; Sofie Ashford; Antony Attwood; Steve Austin; Tamam Bakchoul; Peter Collins; Sri V. V. Deevi; Rémi Favier; Myrto Kostadima; Michele P. Lambert; Mary Mathias; Carolyn M. Millar; Kathelijne Peerlinck; David J. Perry; Sol Schulman; Deborah Whitehorn; Christine Wittevr...; ; Marc De Maeyer; Augusto Rendon; Keith Gomez; Wendy N. Erber; Andrew D. Mumford; Paquita Nurden; Kathleen Stirrups; John R. Bradley; F. Lucy Raymond; Michael A. Laffan; Chris Van Geet; Sylvia Richardson; Kathleen Freson; Willem H. Ouwehand
• Keywords: Gain of function

E527K hyperactive SRC results in megakaryocytes with increased podosome formation, thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.