Granulocyte whole exome sequencing and endothelial JAK2V617F in patients with JAK2V617F positive Budd-Chiari Syndrome without myeloproliferative neoplasm
نویسندگان
چکیده
منابع مشابه
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome.
Patients with myeloproliferative disorders are at a high risk of developing thrombotic events. Several investigators have hypothesized that endothelial cell (EC) abnormalities might contribute to this prothrombotic state. Budd-Chiari syndrome (BCS) and portal vein thrombosis have been reported to be associated with JAK2V617F-positive hematopoiesis. We explored whether JAK2V617F was present in E...
متن کاملJAK2V617F mRNA metabolism in myeloproliferative neoplasm cell lines
Myeloproliferative neoplasms (MPNs) are a heterogeneous group of leukemias with defective regulation of myeloid stem cell proliferation. They include four distinct diseases: chronic myeloid leukemia, polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). In 2005, four independent studies have concurred to the identification in MPN patients of a specific mutation...
متن کاملJak2V617F myeloproliferative neoplasm stem cells and interferon-alpha
The myeloproliferative neoplasms (MPNs) are clonal disorders of hematopoiesis that arise as a result of aberrant activation of tyrosine kinases and result in the proliferation and accumulation of mature myeloid cells in the blood, bone marrow and spleen. The prototypical MPN, chronic myeloid leukemia (CML) is caused by constitutive activation of ABL kinase occurring as a result of the BCR-ABL f...
متن کاملEvaluation 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...
متن کاملCorrelative 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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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2016
ISSN: 0007-1048
DOI: 10.1111/bjh.14327