JAK2 exon 14 skipping in patients with primary myelofibrosis: a minor splice variant modulated by the JAK2-V617F allele burden

Primary myelofibrosis (PMF) is an acquired clonal disease of the hematopoietic stem cell compartment, characterized by bone marrow fibrosis, anemia, splenomegaly and extramedullary hematopoiesis. About 60% of patients with PMF harbor a somatic mutation of the JAK2 gene (JAK2-V617F) in their hematopo...

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Veröffentlicht in:	PloS one 2015-01, Vol.10 (1), p.e0116636-e0116636
Hauptverfasser:	Catarsi, Paolo, Rosti, Vittorio, Morreale, Giacomo, Poletto, Valentina, Villani, Laura, Bertorelli, Roberto, Pedrazzini, Matteo, Zorzetto, Michele, Barosi, Giovanni
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Alternative splicing Analysis Anemia Biotechnology Bone marrow Care and treatment Cell Line Computational Biology Deoxyribonucleic acid DNA Exons Fibrosis Gene expression Gene Expression Profiling Gene mutation Granulocytes Hematopoiesis Hematopoietic stem cells Homozygosity Humans Janus kinase 2 Janus Kinase 2 - chemistry Janus Kinase 2 - genetics Kinases Laboratories Leukocytes (granulocytic) Mutation Myelofibrosis Myeloproliferative diseases Pathogenesis Patients Peripheral blood Primary Myelofibrosis - genetics Regression Analysis Regulatory sequences RNA Splicing Sequence Deletion Splenomegaly Splicing Stem cells Transcription Transversion Tumors
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