|
rs77375493
|
JAK2;INSL6
|
5q-syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed a retrospective analysis of JAK2 V617F mutation in Chinese patients with myeloid neoplasms and isolated del(5q), and were able to demonstrate the frequent occurrence of JAK2 V617F mutation in 5q- syndrome.
|
19562618 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Acquired von Willebrand's disease
|
|
0.010 |
GeneticVariation |
BEFREE |
Among ET patients, JAK2 V617F was a main driver for the development of AVWS.
|
27919526 |
2017 |
|
rs77375493
|
JAK2;INSL6
|
Acromegaly
|
|
0.010 |
GeneticVariation |
BEFREE |
More data, on a larger cohort of patients, could clarify whether JAK2 V617F mutation has a serious impact on the clinical features and course of acromegaly.
|
22364960 |
2012 |
|
rs77375493
|
JAK2;INSL6
|
Activated Protein C Resistance
|
|
0.010 |
GeneticVariation |
BEFREE |
These results support a role for platelet turnover, factor V, and aAPCR in the thrombosis of ET as well as the association between JAK2 V617F allele burden and either decreased free PS or increased TF and soluble markers of platelet and endothelial activation.
|
19105233 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Acute Chest Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
We would like to report and review the relationship between ACS and polycythemia vera with JAK2 V617F mutation.
|
26825737 |
2016 |
|
rs77375493
|
JAK2;INSL6
|
Acute Erythroblastic Leukemia
|
|
0.070 |
GeneticVariation |
BEFREE |
Similar inhibitory effects were found with the JAK2(V617F)-positive human erythroleukemia HEL cell line.
|
17178722 |
2007 |
|
rs77375493
|
JAK2;INSL6
|
Acute Erythroblastic Leukemia
|
|
0.070 |
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 |
|
rs77375493
|
JAK2;INSL6
|
Acute Erythroblastic Leukemia
|
|
0.070 |
GeneticVariation |
BEFREE |
The multi-site docking protein Gab1 is constitutively phosphorylated independent from its recruitment to the plasma membrane in Jak2-V617F-positive cells and mediates proliferation of human erythroleukaemia cells.
|
28365441 |
2017 |
|
rs77375493
|
JAK2;INSL6
|
Acute Erythroblastic Leukemia
|
|
0.070 |
GeneticVariation |
BEFREE |
We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acute myeloid leukemia (AML), especially erythroleukemia (AML-M6) or megakaryoblastic leukemia (AML-M7), where it might mimic erythropoietin or thrombopoietin signaling.
|
16598306 |
2006 |
|
rs77375493
|
JAK2;INSL6
|
Acute Erythroblastic Leukemia
|
|
0.070 |
GeneticVariation |
BEFREE |
We investigated the activity of (E)-3(6-bromopyridin-2-yl)-2-cyano-N-(S0-1phenylethyl)acrylamide (WP1066), a novel analogue of the JAK2 inhibitor AG490, in JAK2 V617F-positive erythroleukemia HEL cells and in blood cells from patients with polycythemia vera.
|
18245540 |
2008 |
|
rs77375493
|
JAK2;INSL6
|
Acute Erythroblastic Leukemia
|
|
0.070 |
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 |
|
rs77375493
|
JAK2;INSL6
|
Acute Erythroblastic Leukemia
|
|
0.070 |
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 |
|
rs77375493
|
JAK2;INSL6
|
Acute erythroleukemia
|
|
0.010 |
GeneticVariation |
BEFREE |
Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibrosis.
|
19713696 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Acute leukemia
|
|
0.030 |
GeneticVariation |
BEFREE |
JAK2 V617F mutation was detected after transformation to CMML in 1 of them; in the other, a novel translocation t(5;12)(p13;q24) was observed at the time of progression to acute leukemia.
|
21658659 |
2011 |
|
rs77375493
|
JAK2;INSL6
|
Acute leukemia
|
|
0.030 |
GeneticVariation |
BEFREE |
JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia.
|
16037387 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Acute leukemia
|
|
0.030 |
GeneticVariation |
BEFREE |
A high JAK2(V617F) allele burden was correlated with the transformation to myelofibrosis (p<0.0001), but not with the transformation to acute leukemia.
|
22818858 |
2013 |
|
rs2230724
|
JAK2;INSL6
|
Acute leukemia
|
|
0.010 |
GeneticVariation |
BEFREE |
This suggested that subjects</span> with A allele of rs2230724 were susceptible to acute leukemia and its subtypes.
|
22168550 |
2012 |
|
rs1057519721
|
JAK2;INSL6
|
Acute lymphoblastic leukemia with lymphomatous features
|
G |
0.700 |
CausalMutation |
CLINVAR |
JAK mutations in high-risk childhood acute lymphoblastic leukemia.
|
19470474 |
2009 |
|
rs1057519721
|
JAK2;INSL6
|
Acute lymphoblastic leukemia with lymphomatous features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Sorafenib treatment of FLT3-ITD(+) acute myeloid leukemia: favorable initial outcome and mechanisms of subsequent nonresponsiveness associated with the emergence of a D835 mutation.
|
22368270 |
2012 |
|
rs1057519721
|
JAK2;INSL6
|
Acute lymphoblastic leukemia with lymphomatous features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Targeting JAK1/2 and mTOR in murine xenograft models of Ph-like acute lymphoblastic leukemia.
|
22955920 |
2012 |
|
rs1057519721
|
JAK2;INSL6
|
Acute lymphoblastic leukemia with lymphomatous features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.
|
18805579 |
2008 |
|
rs1057519722
|
JAK2;INSL6
|
Acute lymphoblastic leukemia with lymphomatous features
|
C |
0.700 |
CausalMutation |
CLINVAR |
Targeting JAK1/2 and mTOR in murine xenograft models of Ph-like acute lymphoblastic leukemia.
|
22955920 |
2012 |
|
rs1057519722
|
JAK2;INSL6
|
Acute lymphoblastic leukemia with lymphomatous features
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.
|
18805579 |
2008 |
|
rs1057519722
|
JAK2;INSL6
|
Acute lymphoblastic leukemia with lymphomatous features
|
C |
0.700 |
CausalMutation |
CLINVAR |
JAK mutations in high-risk childhood acute lymphoblastic leukemia.
|
19470474 |
2009 |
|
rs1057519722
|
JAK2;INSL6
|
Acute lymphoblastic leukemia with lymphomatous features
|
C |
0.700 |
CausalMutation |
CLINVAR |
Sorafenib treatment of FLT3-ITD(+) acute myeloid leukemia: favorable initial outcome and mechanisms of subsequent nonresponsiveness associated with the emergence of a D835 mutation.
|
22368270 |
2012 |