Mutations and deletions of the SUZ12 polycomb gene in myeloproliferative neoplasms
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چکیده
منابع مشابه
Mutations and deletions of the SUZ12 polycomb gene in myeloproliferative neoplasms
Alterations of epigenetic marks have an important role in myeloid malignancies. Mutations have been found in several epigenetic regulators including ASXL1, DNMT3A, EZH2, IDH1/2 and TET2. DNMT3A, IDH1/2 and TET2 are involved in the regulation of DNA methylation. EZH2 belongs to a complex of proteins called ‘polycomb repressor complex 2’ (PRC2). ASXL1 is a regulator of PRC1, the other polycomb co...
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With the discovery of the JAK2V617F mutation in patients with Philadelphia chromosome-negative (Ph(-)) myeloproliferative neoplasms (MPNs) in 2005, major advances have been made in the diagnosis of MPNs, in understanding of their pathogenesis involving the JAK/STAT pathway, and finally in the development of novel therapies targeting this pathway. Nevertheless, it remains unknown which mutations...
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Myeloproliferative neoplasms (MPNs) are clonal disorders characterized by excessive production of mature blood cells. In the majority of classic MPN--polycythemia vera, essential thrombocythemia, and primitive myelofibrosis--driver oncogenic mutations affecting Janus kinase 2 (JAK2) or MPL lead to constitutive activation of cytokine-regulated intracellular signaling pathways. LNK, c-CBL, or SOC...
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BACKGROUND Approximately 50 to 60% of patients with essential thrombocythemia or primary myelofibrosis carry a mutation in the Janus kinase 2 gene (JAK2), and an additional 5 to 10% have activating mutations in the thrombopoietin receptor gene (MPL). So far, no specific molecular marker has been identified in the remaining 30 to 45% of patients. METHODS We performed whole-exome sequencing to ...
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ژورنال
عنوان ژورنال: Blood Cancer Journal
سال: 2011
ISSN: 2044-5385
DOI: 10.1038/bcj.2011.31