Article
Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients.
Blood - 21 Jan 2016
Cabagnols Xénia, Favale Fabrizia, Pasquier Florence, Messaoudi Kahia, Defour Jean Philippe, Ianotto Jean Christophe, Marzac Christophe, Le Couédic Jean Pierre, Droin Nathalie, Chachoua Ilyas, Favier Remi, Diop M'boyba Khadija, Ugo Valérie, Casadevall Nicole, Debili Najet, Raslova Hana, Bellanné-Chantelot Christine, Constantinescu Stefan N, Bluteau Olivier, Plo Isabelle, Vainchenker William
Abstract excerpt
Mutations in signaling molecules of the cytokine receptor axis play a central role in myeloproliferative neoplasm (MPN) pathogenesis. Polycythemia vera is mainly related to JAK2 mutations, whereas a wider mutational spectrum is detected in essential thrombocythemia (ET) with mutations in JAK2, the thrombopoietin (TPO) receptor (MPL), and the calreticulin (CALR) genes. Here, we studied the mutational profile of 17...
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