Detection of the JAK2V617F mutation with the Ipsogen MutaScreen kit: absence of JAK2V617F does not mean absence of myeloproliferative neoplasm

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Detection of the JAK2V617F mutation with the Ipsogen MutaScreen kit: absence of JAK2V617F does not mean absence of myeloproliferative neoplasm.

Michael R. Lieber Norris Comprehensive Cancer Center and Departments of Pathology, Biochemistry & Molecular Biology, Molecular Microbiology & Immunology, and Biological Sciences (Section of Molecular and Computational Biology), University of Southern California Keck School of Medicine, Los Angeles, CA Contribution: A.G.T. designed and performed research and wrote the manuscript; A.Y. designed a...

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Evaluation of JAK2V617F mutation prevalence in myeloproliferative neoplasm by AS-RT-PCR

Abstract Objective JAK2 is a non-receptor tyrosine kinase that plays a major role in myeloid disorders. JAK2V617F mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. Methods In this study we evaluated RNA from 89 pati...

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Correlative study between the JAK2V617F mutation and thrombosis in patients with myeloproliferative neoplasm.

In this study, we investigated the correlation between the JAK2V617F mutation and thrombosis in patients with myeloproliferative neoplasm (MPN) using real-time fluorescence quantitative PCR. The incidence of thrombus was monitored and blood and coagulation were routinely assayed in patients with MPN. The JAK2V617F mutation was found in 8/68 individuals in the control group (11.8%); it was expre...

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How does JAK2V617F contribute to the pathogenesis of myeloproliferative neoplasms?

A decade on from the discovery of the JAK2V617F mutation in the majority of patients with myeloproliferative neoplasms (MPNs), JAK2V617F is now firmly installed in the hematology curriculum of medical students and the diagnostic-testing algorithm of clinicians. Furthermore, the oral JAK1/JAK2 inhibitor ruxolitinib, rationally designed to target activated JAK2 signaling in MPN, has been approved...

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ژورنال

عنوان ژورنال: Blood

سال: 2010

ISSN: 0006-4971,1528-0020

DOI: 10.1182/blood-2010-06-289819