Mpl Baltimore: A thrombopoietin receptor polymorphism associated with thrombocytosis

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Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis.

The chronic myeloproliferative disorders (MPD) are clonal hematopoietic stem cell disorders of unknown etiology. We have reported defective thrombopoietin receptor (Mpl) protein expression in MPD patients. To determine whether the basis of abnormal Mpl protein expression was due to mutations in the Mpl gene, we sequenced Mpl cDNA from MPD patients. We found a single nucleotide substitution (G12...

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Mpl and thrombocytosis: levels matter.

P ronounced thrombocytosis can result from decreased expression of the thrombopoietin (Tpo) receptor, Mpl, in late megakaryocytes and platelets. In this issue of Blood, Lannutti and colleagues1 and Tiedt and colleagues2 generate transgenic mice expressing Mpl and use these models to investigate the relationships between Mpl, expression and platelet production. In these mouse models, a 2 kb prox...

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Ubiquitination and degradation of the thrombopoietin receptor c-Mpl.

Regulation of growth factor and cytokine signaling is essential for maintaining physiologic numbers of circulating hematopoietic cells. Thrombopoietin (Tpo), acting through its receptor c-Mpl, is required for hematopoietic stem cell maintenance and megakaryopoiesis. Therefore, the negative regulation of Tpo signaling is critical in many aspects of hematopoiesis. In this study, we determine the ...

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Patients with thrombocytosis have normal or slightly elevated thrombopoietin levels.

BACKGROUND AND OBJECTIVE The distinction between clonal and reactive thrombocytoses is a frequent problem and implies different therapeutic options. As thrombopoietin (TPO) is the main regulator of megakaryocytopoiesis and thrombopoiesis, we measured TPO levels in patients with thrombocytosis in an attempt to understand the regulation and potential utility of distinguishing thrombocytoses. DE...

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The current study presents the case of a 63-year-old patient exhibiting refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), who was positive for the MPL W515L mutation, but negative for the JAK2 V617F mutation. Following diagnosis, the patient remained asymptomatic for over three years, however, in August 2012, the patient relapsed and was administered wit...

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ژورنال

عنوان ژورنال: Proceedings of the National Academy of Sciences

سال: 2004

ISSN: 0027-8424,1091-6490

DOI: 10.1073/pnas.0404241101