Article
SH2B3 (LNK) mutations from myeloproliferative neoplasms patients have mild loss of function against wild type JAK2 and JAK2 V617F.
British journal of haematology - 1 Jun 2013
Koren-Michowitz Maya, Gery Sigal, Tabayashi Takayuki, Lin Dechen, Alvarez Rocio, Nagler Arnon, Koeffler H Phillip
Abstract excerpt
Somatic point mutations in the PH domain of SH2B3 (LNK), an adaptor protein that is highly expressed in haematopoietic cells, were recently described in patients with myeloproliferative neoplasms. We studied the effect of these mutations on the JAK2 signalling pathway in cells expressing either wild type JAK2 or the JAK2 V617F mutation. Compared to wild type SH2B3, PH domain mutants have mild loss of function,...
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