نتایج جستجو برای: jak2 mutation
تعداد نتایج: 294733 فیلتر نتایج به سال:
Acute myeloid leukemia (AML) is a malignant clonal disease of hematopoietic stem cells. It can also be secondary to other blood system diseases such as myelodysplastic syndromes (MDS) and myeloproliferative tumors neoplasms (MPN). The JAK2 V617F mutation has been reported in MPN, but rarely reported in patients with AML. This report is related a 60-year-old patient who suffered from AML with JA...
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 ...
In July, 2000, a 50-year-old man presented with leukocytosis and splenomegaly (21 cm). Leucocyte concentration was 93×10/L, haemoglobin 150 g/L, and platelets 345×10/L (fi gure 1). A diff erential blood count showed 54% neutrophils, 2% lymphocytes, 13% myelocytes, 7% metamyelocytes, 2% promyelocytes, 1% blasts, and 7% basophils. Lactate dehydrogenase (LDH) concentration was increased at 484 U/L...
Along with the most common mutation, JAK2V617F, several other acquired JAK2 mutations have now been shown to contribute to the pathogenesis of myeloproliferative neoplasms (MPNs). However, here we describe for the first time a germline mutation that leads to familial thrombocytosis that involves a residue other than Val617. The novel mutation JAK2R564Q, identified in a family with autosomal dom...
Myeloproliferative neoplasms (MPNs) are hematopoietic malignancies characterized by unchecked proliferation of differentiated myeloid cells. The most common BCR-ABL1-negative MPNs are polycythemia vera, essential thrombocythemia, and primary myelofibrosis. The discovery of JAK2 V617F mutation has improved our understanding of the molecular basis of MPN. The high frequency of JAK2 mutation in MP...
BACKGROUND A number of studies showed that the JAK2 V617F mutation increases the thrombotic risk in patients with myeloproliferative disorders (MPN) while others did not reveal this correlation, and it is unknown whether inherited thrombophilia is an additive risk factor in mutated subjects. Our aim was to clarify the contribution of JAK2 V617F to a hypercoagulable state, as well as its interac...
Executive Summary Polycythemia vera (PV) is a rare blood disease in which the bone marrow makes too many red blood cells. The extra red blood cells make the blood thicker than normal. As a result, blood clots can form more easily and block blood flow through arteries and veins. This can lead to heart attacks and strokes. Other symptoms of PV include headaches, dizziness, itching, and vision pro...
The current study presents the case of a 63-year-old patient exhibiting refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), who was positive for the MPL W515L mutation, but negative for the JAK2 V617F mutation. Following diagnosis, the patient remained asymptomatic for over three years, however, in August 2012, the patient relapsed and was administered wit...
derivatives suppress TH17 cell differentiation by antagonizing RORgammat activity. Activating mutations in JAK2, a tyrosine kinase that serves as a critical signaling protein for multiple cytokines, are associated with BCR-ABL1–negative myelo-proliferative neoplasms. In this issue of Blood, Zheng and colleagues report that the constitutively activated kinase CK2 binds to JAK2 and is required fo...
JAK (Janus kinase) 2 plays a critical role in signal transduction through several cytokine receptors. JAKs contain a typical tyrosine kinase domain preceded by a pseudokinase [JH2 (JAK homology 2)] domain which has been considered to be catalytically inactive. Identification of activating mutations in the JH2 domain of JAK2 as the major cause for polycythaemia vera and other MPNs (myeloprolifer...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید