Article
Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia.
Growth factors (Chur, Switzerland) - 1 Feb 2014
Varghese Leila N, Zhang Jian-Guo, Young Samuel N, Willson Tracy A, Alexander Warren S, Nicola Nicos A, Babon Jeffrey J, Murphy James M
Abstract excerpt
Activation of the cell surface receptor, c-Mpl, by the cytokine, thrombopoietin (TPO), underpins megakaryocyte and platelet production in mammals. In humans, mutations in c-Mpl have been identified as the molecular basis of Congenital Amegakaryocytic Thrombocytopenia (CAMT). Here, we show that CAMT-associated mutations in c-Mpl principally lead to defective receptor presentation on the cell surface. In contrast,...
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