rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In 2007, this 82-year-old man with essential thrombocythemia since 1994 developed primary polycythemia with the JAK2 mutation V617F.
|
30471421 |
2019 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The V617F mutation in the JH2 domain of JAK2 is an oncogenic driver in several myeloproliferative neoplasms (MPNs), including essential thrombocythemia, myelofibrosis, and polycythemia vera (PV).
|
31697804 |
2019 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the absence of BCR-ABL, the conventional diagnostic algorithm recommends JAK2 V617F mutation testing to support diagnosis of other MPN diseases such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
|
30772299 |
2019 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
An activating mutation in JAK2 (V617F) is present in ~ 95% of polycythemia vera, essential thrombocythemia, and primary myelofibrosis cases.
|
30717771 |
2019 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The advances in molecular insights, especially the discovery of the Janus kinase 2 (JAK2) V617F mutation and its role in JAK-STAT pathway dysregulation, led to the development of the JAK inhibitor ruxolitinib, which currently represents the cornerstone of medical therapy in MF and hydroxyurea-resistant/intolerant PV.
|
31228096 |
2019 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
IPF analysis was performed on 22 patients with known JAK2 V617F mutation and 41 patients who were negative for this mutation previously tested because of suspicion of PV.
|
30601597 |
2019 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Deletion of miR-451 curbs JAK2(V617F)-induced erythrocytosis in polycythemia vera by oxidative stress-mediated erythroblast apoptosis and hemolysis.
|
31399524 |
2019 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Moreover, leukocytes > 18 × 10<sup>9</sup>/L and V617F burden allele > 25.7% were statistically significantly different in PV</span> patients (P = .019 and borderline significant at P = .055, respectively), while in ET patients leukocytes > 9.2 × 10<sup>9</sup>/L (P < .001) and age at diagnosis of > 55 years were statistically significantly different (P = .002).
|
30301673 |
2019 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The Janus kinase 2 (<i>JAK2</i>) V617F mutation is common in patients with breakpoint cluster region-Abelson1 (<i>BCR-ABL1</i>)-negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in <i>BCR-ABL1-</i>positive chronic myeloid leukemia (CML) patients.
|
31123683 |
2019 |
rs1200469268
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the absence of BCR-ABL, the conventional diagnostic algorithm recommends JAK2 V617F mutation testing to support diagnosis of other MPN diseases such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
|
30772299 |
2019 |
rs361525
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To detect the single nucleotide polymorphisms (SNPs), <i>IL-1</i>α (rs1800587), <i>IL-1</i>β (rs1143627, rs16944, rs1143634), <i>IL-8</i> (rs4073), and <i>TNF-</i>α (rs1799964, rs1800630, rs1799724, and rs361525) genes were genotyped in BP patients and healthy controls as well as <i>IL-8</i> (rs4073) in pemphigus vulgaris (PV) patients.
|
31001258 |
2019 |
rs4073
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To detect the single nucleotide polymorphisms (SNPs), <i>IL-1</i>α (rs1800587), <i>IL-1</i>β (rs1143627, rs16944, rs1143634), <i>IL-8</i> (rs4073), and <i>TNF-</i>α (rs1799964, rs1800630, rs1799724, and rs361525) genes were genotyped in BP patients and healthy controls as well as <i>IL-8</i> (rs4073) in pemphigus vulgaris (PV) patients.
|
31001258 |
2019 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The results suggested that plasma Dkk-1 levels could differentiate ET from pre-PMF, in JAK2 V617F-positive as well as in CALR-positive patients, and also ET from PV in JAK2 V617F-positive patients.
|
29975001 |
2018 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Overall response rates (ORRs) in patients with JAK2 V617F-mutated PV, ET, and MF were 95%, 90.5%, and 9.1%, respectively, while patients with ET and MF without the JAK2 V617F mutations had ORRs of 43.7% and 0%, respectively.
|
30025280 |
2018 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The prevalence of JAK2 V617F mutations is higher than 95% in PV, 50%-75% in ET and 40%-75% in PMF.
|
30502850 |
2018 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A point mutation in exon 14 of the JAK2 gene resulting in the formation of the JAK2 V617F transcript occurs in 95% of PV patients and around 50% of ET and PMF patients driving constitutive activation of the JAK/STAT pathway.
|
30558676 |
2018 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Evaluations revealed right renal artery stenosis causing renovascular hypertension and polycythemia vera with JAK2 V617F mutation.
|
29656438 |
2018 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
However, when a patient presents with isolated thrombocytosis and a positive JAK2 V617F assay, particularly a young woman, the possibility of PV must always be considered because of plasma volume expansion.
|
29516275 |
2018 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Detection of Exon 12 and 14 Mutations in Janus Kinase 2 Gene Including a Novel Mutant in V617F Negative Polycythemia Vera Patients from Pakistan.
|
30519338 |
2018 |
rs2736100
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These three polymorphisms, along with JAK2 46/1 and TERT rs2736100 were genotyped in 939 MPN patients (454 with ET, 337 with PV and 148 with PMF) and 483 controls.
|
29047144 |
2018 |
rs12979860
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The CC genotype of rs12979860 was found significantly associated with hematologic response in polycythemia vera (PV) with a complete response (CR) in 79% (CC) compared to 48% (non-CC), (P = .036).
|
29369421 |
2018 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation was positive before and after the diagnosis of PV; however, new chromosomal abnormalities were detected during the progression.
|
28700486 |
2017 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The constitutively active Janus kinase 2 mutant Jak2-V617F is responsible for cytokine-independent growth of hematopoietic cells and the development of myeloproliferative neoplasms, such as polycythaemia vera and essential thrombocythaemia.
|
28365441 |
2017 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In multivariable analysis, younger age (P=0.002), platelet count (P<0.001), hemoglobin level (P=0.01) and JAK2 V617F mutation (P=0.01) independently predicted the development of AVWS among ET patients; whereas only platelet count predicted its development among PV patients (P<0.001).
|
27919526 |
2017 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here we show that retroviral overexpression of Jak2 V617F mutant into wild-type p53 murine bone marrow cells induced polycythemia vera (PV) in the recipient mice, whereas Jak2 V617F-transduced p53-null mice developed lethal leukemia after the preceding PV phase.
|
28068330 |
2017 |