نتایج جستجو برای: jak2 v617f
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چکید ه سابقه و هدف جهش سوماتیک نقطه ای در ژن پروتئین تیروزین کیناز jak2 ( jak2 v617f ) باعث جابجایی g با t در اگزون 12 ژن jak2 می شود که منجر به فعالیت خودبخودی پروتئین jak2 و انتقال پیام غیر وابسته به سیتوکاین می گردد و در نتیجه باعث تکثیر کلونال پیش سازهای خونساز در mpns می شود. با توجه به این که تاکنون در ایران، هیچ گزارشی از جهش jak2 v617f و اهمیت آن در تشخیص بیماران مبتلا به نئوپلاسم ه...
The Myeloproliferative Neoplasms (MPN) are classified as four major diseases: Chronic Myeloid Leukemia (CML), Polycythemia Vera (PV), Primary Myelofibrosis (PMF) and Essential Thrombocythemia (ET) [1]. The translocation t(9;22)(q34;q11) produces the Philadelphia chromosome and causes the BCR-ABL1 transcript; this alteration is commonly found in CML [1]. In 2008 the World Health Organization (WH...
A somatic mutation in the JH2 autoinhibitory domain of the Janus kinase 2 (JAK2) tyrosine kinase was recently described in polycythemia vera, essential thrombocythemia, and myelofibrosis with myeloid metaplasia. The prevalence of this mutation in either "atypical" myeloproliferative disorders (MPDs) or the myelodysplastic syndromes (MDSs) is unknown. Bone marrow-derived genomic DNA from 245 pat...
Calreticulin (CALR) and JAK2-V617F gene mutations, which are major genetic mutations in patients with primary myelofibrosis (PMF) and essential thrombocythemia (ET), exert different effects on the clinical features and outcomes of these diseases. We analyzed 88 and 9 patients with ET and PMF, respectively, and determined the differences in the clinical characteristics of ET patients with JAK2-V...
JAK2 inhibition therapy is used to treat patients suffering from myeloproliferative neoplasms (MPN). Conflicting data on this therapy are reported possibly linked to the types of inhibitors or disease type. Therefore, we decided to compare in mice the effect of a JAK2 inhibitor, Fedratinib, in MPN models of increasing severity: polycythemia vera (PV), post-PV myelofibrosis (PPMF) and rapid post...
E ssential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (PMF) belong to the group of Philadelphia chromosome-negative myeloproliferative neoplasias (Ph-MPN). MPNs are clonal bone marrow stem cell disorders involving a multipotent hematopoietic stem cell, characterized by proliferation of one or more lineages of the myeloid, erythroid and megakaryocytic cell lines. This...
The myeloproliferative disorders polycythemia vera, essential thrombocytosis, and primary myelofibrosis are clonal disorders arising in a pluripotent hematopoietic stem cell, causing an unregulated increase in the number of erythrocytes, leukocytes, or platelets, alone or in combination; eventual marrow dominance by the progeny of the involved stem cell; and a tendency to arterial or venous thr...
Patients with essential thrombocythemia may carry JAK2 (V617F), an MPL substitution, or a calreticulin gene (CALR) mutation. We studied biologic and clinical features of essential thrombocythemia according to JAK2 or CALR mutation status and in relation to those of polycythemia vera. The mutant allele burden was lower in JAK2-mutated than in CALR-mutated essential thrombocythemia. Patients with...
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