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Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia by Phil J. Ancliff, Michael P. Blundell, Giles O. Cory, Yolanda Calle, Austen Worth, Helena Kempski, Siobhan Burns, Gareth E. Jones, Jo Sinclair, Christine Kinnon, Ian M. Hann, Rosemary E. Gale, David C. Linch, and Adrian J. Thrasher Blood Volume 108(7):2182-2189 October 1, 2006 ©2006 by American Society of Hematology Identification of 2 WAS mutations. Phil J. Ancliff et al. Blood 2006;108:2182-2189 ©2006 by American Society of Hematology Presence of the Ile294Thr or Ser272Pro WASp mutation profoundly impaired myelopoiesis and led to increased levels of hematopoietic cell apoptosis. Phil J. Ancliff et al. Blood 2006;108:2182-2189 ©2006 by American Society of Hematology Macrophages from P1 had abnormal podosome clustering and increased levels of F-actin. Phil J. Ancliff et al. Blood 2006;108:2182-2189 ©2006 by American Society of Hematology Live WASp-Ile294Thr macrophages exhibited abnormal shape and motility. Phil J. Ancliff et al. Blood 2006;108:2182-2189 ©2006 by American Society of Hematology Ile294Thr and Ser272Pro mutations enhanced the ability of WASp to stimulate actin polymerization in vitro. Phil J. Ancliff et al. Blood 2006;108:2182-2189 ©2006 by American Society of Hematology
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