MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia

The JAK2V617F allele has recently been identified in patients with polycythemia vera (PV), essential thrombocytosis (ET), and myelofibrosis with myeloid metaplasia (MF). Subsequent analysis has shown that constitutive activation of the JAK-STAT signal transduction pathway is an important pathogeneti...

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Veröffentlicht in:	PLoS medicine 2006-07, Vol.3 (7), p.e270-e270
Hauptverfasser:	Pikman, Yana, Lee, Benjamin H, Mercher, Thomas, McDowell, Elizabeth, Ebert, Benjamin L, Gozo, Maricel, Cuker, Adam, Wernig, Gerlinde, Moore, Sandra, Galinsky, Ilene, DeAngelo, Daniel J, Clark, Jennifer J, Lee, Stephanie J, Golub, Todd R, Wadleigh, Martha, Gilliland, D Gary, Levine, Ross L
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Animals Blood Blood platelets Bone marrow Bone Marrow Cells - drug effects Bone Marrow Cells - pathology Bone Marrow Transplantation Cancer Biology Cell Division - drug effects Cells, Cultured - drug effects Cells, Cultured - pathology Colony-Forming Units Assay Cytokines Cytokines - pharmacology Disease Models, Animal Gene Expression Regulation Genes Genetic aspects Genetic Vectors Genetics Genetics/Genomics/Gene Therapy Granulocytes Hematologic Neoplasms - drug therapy Hematologic Neoplasms - physiopathology Hematology Hematology (including Blood Transfusion) Hematopoiesis - genetics Hematopoiesis - physiology Humans Janus Kinases - antagonists & inhibitors Janus Kinases - physiology Kinases Leukemia Leukocytes Megakaryocytes - drug effects Megakaryocytes - pathology Mice Mice, Inbred BALB C mRNA Cleavage and Polyadenylation Factors - genetics mRNA Cleavage and Polyadenylation Factors - physiology Mutation Mutation, Missense Myelofibrosis Myeloid Cells - drug effects Myeloid Cells - pathology Myeloproliferative Disorders - etiology Myeloproliferative Disorders - genetics Myeloproliferative Disorders - pathology Oncogene Proteins, Fusion - genetics Oncogene Proteins, Fusion - physiology Oncology Phosphorylation - drug effects Point Mutation Primary Myelofibrosis - genetics Primary Myelofibrosis - pathology Protein Kinase Inhibitors - pharmacology Protein Kinase Inhibitors - therapeutic use Protein Processing, Post-Translational - drug effects Protein Processing, Post-Translational - genetics Receptor, Platelet-Derived Growth Factor alpha - genetics Receptor, Platelet-Derived Growth Factor alpha - physiology Receptors, Cytokine - physiology Recombinant Fusion Proteins - adverse effects Sequence Analysis, DNA Signal transduction Signal Transduction - genetics Signal Transduction - physiology Spleen - pathology STAT Transcription Factors - physiology Stem cell transplantation Thrombocytosis - etiology Thrombocytosis - genetics Thrombocytosis - pathology Transcription, Genetic
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