|
Adult Erythroleukemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
Specifically, five derivative compounds of G6 having structural similarity to the original lead compound were obtained and analyzed for their ability to (i) inhibit Jak2-V617F-mediated cell growth, (ii) inhibit the levels of phospho-Jak2, phospho-STAT3, and phospho-STAT5; (iii) induce apoptosis in human erythroleukemia cells; and (iv) suppress pathologic cell growth of Jak2-V617F-expressing human bone marrow cells ex vivo.
|
20667821 |
2010 |
|
Adult Erythroleukemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
Using this assay and serial dilutions of an erythroleukemia cell line harboring the homozygous JAK2 V617F mutation, we successfully detected the mutation within a background of wild type sequences at a sensitivity of 2.5%.
|
17022694 |
2006 |
|
Adult Erythroleukemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
The leukemic CD71<sup>+</sup> cells were more sensitive to INCB18424, a potent JAK inhibitor, than KSL cells. p53 restoration could ameliorate Jak2 V617F-transduced p53-null erythroleukemia.
|
28068330 |
2017 |
|
Adult Lymphoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML.
|
15860661 |
2005 |
|
Adult Myelodysplastic Syndrome
|
|
0.060 |
GeneticVariation
|
BEFREE |
To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis of the 3q21q26 syndrome, we analyzed bone marrow samples of 12 patients, including 10 patients with acute myeloid leukemia and 2 patients with a myelodysplastic syndrome, associated with either inv(3)(q21;q26) or t(3;3)(q21;q26).
|
20153505 |
2010 |
|
Adult Myelodysplastic Syndrome
|
|
0.060 |
GeneticVariation
|
BEFREE |
We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had abnormal megakaryocytic pSTAT5 expression and a MPL W515L mutation.
|
18479730 |
2008 |
|
Adult Myelodysplastic Syndrome
|
|
0.060 |
GeneticVariation
|
BEFREE |
The JAK2-V617F mutation could be detected in 28 of 33 polycythaemia vera patients (85%), 29 of 49 essential thrombocythaemia patients (59%) and 2 of 6 IMF patients (33%), but was not detected in 11 patients with myelodysplastic syndrome or another 10 with other haematological diseases.
|
18336541 |
2008 |
|
Adult Myelodysplastic Syndrome
|
|
0.060 |
GeneticVariation
|
BEFREE |
The V617F mutation is present in blood and marrow from a large proportion of patients with classic BCR/ABL-negative chronic myeloproliferative disorders and of a few patients with other clonal hematological diseases such as myelodysplastic syndrome, atypical myeloproliferative disorders, and acute myeloid leukemia.
|
16931578 |
2006 |
|
Adult Myelodysplastic Syndrome
|
|
0.060 |
GeneticVariation
|
BEFREE |
We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML).
|
18030353 |
2007 |
|
Adult Myelodysplastic Syndrome
|
|
0.060 |
GeneticVariation
|
BEFREE |
The high frequency of myeloproliferative features and JAK2 p.V617F mutation, and the low frequency of p53 dysregulation, suggest that fibrosis in the context of CMML has a different pathogenesis from that previously reported in myelodysplastic syndrome.
|
29596070 |
2018 |
|
Anemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/K), were more frequently female, were older (61 years vs. 57 years; P = 0.02), presented with more severe anaemia (haemoglobin, 101 g/l vs. 121 g/l; P = 0.002) and were more likely to require regular transfusional support (P = 0.012).
|
17408465 |
2007 |
|
Anemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
Apoptotic resistance in MMM correlated with anemia (P=0.01) and the JAK2-V617F (P=0.01).
|
16871275 |
2006 |
|
Anemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
In patients with CMD, the multivariate generalized linear regression model showed that the JAK2 (V617F) mutational burden (P = 0.01), serum lactate dehydrogenase level (P = 0.003), and anaemia (P < 0.001) independently correlated with MVD.
|
18028479 |
2008 |
|
Anemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
In primary myelofibrosis patients, the degree of anemia was less severe in those who were CALR exon 9 mutation-positive than in those who were JAK2 V617F-positive (p = 0.048).
|
25323779 |
2015 |
|
anemia hemoglobin
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, platelet counts and splenomegaly were significant predictors for the transformation to post-PV MF, while anemia (hemoglobin levels <100 g/L) and age>65 years were significant predictors for poor prognosis of post-PV MF in Chinese PV patients with JAK2(V617F) or exon12 mutation.
|
26370613 |
2015 |
|
Arteriopathic disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The current study describes rare cases of SAH accompanied by ischemic stroke secondary to ET along with a review of the current literature, implying specific mechanisms for cerebral artery disorders associated with JAK2 V617F mutation.
|
31049728 |
2019 |
|
Autoimmune thrombocytopenia
|
|
0.010 |
GeneticVariation
|
BEFREE |
JAK2 V617F-positive essential thrombocythemia with subsequent development of immune thrombocytopenia: A case report.
|
31689837 |
2019 |
|
B-CELL MALIGNANCY, LOW-GRADE
|
|
0.010 |
GeneticVariation
|
BEFREE |
In 4 previously reported patients with JAK2(V617F)-positive Ph(-) MPN and B-CLL there was no definitive proof of JAK2(V617F) mutation in B-CLL cells, although this was suggested in 1 patient.
|
22890406 |
2012 |
|
Behcet Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our data suggest that JAK2 (V617F) is not directly related to thrombosis in MPNs and in other thrombotic entities, such as BS.
|
22203033 |
2012 |
|
Blast Phase
|
|
0.010 |
GeneticVariation
|
BEFREE |
This finding suggests that the previously described increase of expression and kinase activity of JAK2 in CML cells does not result from the JAK2 V617F activation mutation and that transformation into blast crisis is not associated with the occurrence of this mutation.
|
16442619 |
2006 |
|
Blood Coagulation Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Thus, mice developing PV secondary to constitutive JAK2(V617F) expression exhibit a bleeding tendency combined with the accelerated formation of unstable clots, reminiscent of observations made in patients.
|
24951423 |
2014 |
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Molecular analysis of V617F mutation in Janus kinase 2 gene of breast cancer patients.
|
31516339 |
2019 |
|
Budd-Chiari Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients.
|
23980667 |
2014 |
|
Budd-Chiari Syndrome
|
|
0.770 |
GeneticVariation
|
BEFREE |
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome.
|
16762626 |
2006 |
|
Budd-Chiari Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome.
|
16762626 |
2006 |