نتایج جستجو برای: jak2v617f mutation
تعداد نتایج: 291772 فیلتر نتایج به سال:
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...
Patients with myeloproliferative disorders (MPDs), such as essential thrombocythemia (ET) have increased risk of thrombosis and bleeding, which are major sources of morbidity and mortality. Most MPD patients have a gain of function mutation in Janus kinase 2 (JAK2V617F), but little is known how JAK2V617F affects platelet function. Here, we demonstrate that platelets from ET patients have impair...
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...
The activating JAK2V617F mutation has been described in the majority of patients with BCR-ABL-negative myeloproliferative disorders (MPD). In this report, we characterize the small-molecule LS104 as a novel non-ATP-competitive JAK2 inhibitor: Treatment of JAK2V617F-positive cells with LS104 resulted in dose-dependent induction of apoptosis and inhibition of JAK2 autophosphorylation and of downs...
Background: JAK2 is a nonreceptor tyrosine kinase that plays a major role in myeloid disorders. This 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. In this study we compared the amplification refractory mutation (ARM...
During tumor development, loss of heterozygosity (LOH) often occurs. When LOH is preceded by an oncogene activating mutation, the mutant allele may be further potentiated if the wild-type allele is lost or inactivated. In myeloproliferative neoplasms (MPN) somatic acquisition of JAK2V617F may be followed by LOH resulting in loss of the wild type allele. The occurrence of LOH in MPN and other pr...
We present a case of a 42-year old female with the rare diagnosis of a myeloproliferative syndrome harboring both a BCR-ABL transclocation and a JAK2V617F mutation.Initially diagnosed with a CML, the patient underwent treatment with imatinib followed by dasatinib. Despite a major molecular response, the patient developed a thrombocytosis. Molecular analyses revealed a heterozygous JAK2V617F mut...
A 41-year-old woman presented with right upper quadrant abdominal pain, found to have a primary buddchiari syndrome secondary to right hepatic vein thrombosis. Her thrombophilia workup revealed a JAK2 mutation is a setting of no signs of myeloproliferative disorders. JAK2V617F mutation could be a pro-coagulant to thrombosis even without myeloprolifrative disorders.
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