|
rs121913614
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.
|
18451306 |
2008 |
|
rs121913614
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.
|
18528423 |
2008 |
|
rs121913614
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The diagnosis and clinical course of a case of MPL S505N-positive MPN are presented with diagnostic features and treatment response resembling typical ET but with evidence of increasing bone marrow fibrosis.
|
23970983 |
2013 |
|
rs121913614
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The S505N mutation, associated with familial MPD, was detected in 3 patients.
|
21326037 |
2011 |
|
rs1057519752
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.
|
21228032 |
2011 |
|
rs121913504
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121913504
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
CYT387, a novel JAK2 inhibitor, induces hematologic responses and normalizes inflammatory cytokines in murine myeloproliferative neoplasms.
|
20385788 |
2010 |
|
rs121913504
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Preclinical characterization of atiprimod, a novel JAK2 AND JAK3 inhibitor.
|
20372971 |
2011 |
|
rs121913504
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic resistance to JAK2 enzymatic inhibitors is overcome by HSP90 inhibition.
|
22271575 |
2012 |
|
rs121913520
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.
|
19175693 |
2009 |
|
rs121913520
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Concurrence of B-lymphoblastic leukemia and myeloproliferative neoplasm with copy neutral loss of heterozygosity at chromosome 1p harboring a MPL W515S mutation.
|
25453399 |
2015 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Constitutively active JAK2V617F and thrombopoietin receptor (TpoR) W515L/K mutants are major determinants of human myeloproliferative neoplasms (MPNs).
|
19996410 |
2010 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders.
|
18669880 |
2008 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myeloproliferative disorders with JAK2 V617F.
|
18479730 |
2008 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To investigate its prevalence in Chinese patients with MPD, we introduced allele-specific PCR (AS-PCR) combined with sequence analysis to simultaneously screen MPL W515L and JAK2 V617F mutations in 190 MPD patients.
|
18464114 |
2008 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Moreover, the combination of BMN673, ruxolitinib, and hydroxyurea was highly effective in vivo against JAK2(V617F)<sup>+</sup> murine MPN-like disease and also against JAK2(V617F)<sup>+</sup>, CALR(del52)<sup>+</sup>, and MPL(W515L)<sup>+</sup> primary MPN xenografts.
|
29042365 |
2017 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MPL W515L/K patients presented lower haemoglobin levels, compared with the patients with JAK2V617F mutation-positive cMPDs (p < 0.01).
|
19274616 |
2010 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A multiplex snapback primer system was developed for the simultaneous detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia chromosome- (Ph-) negative myeloproliferative neoplasms (MPNs).
|
24729973 |
2014 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF).
|
28990497 |
2018 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Rapid real-time PCR assay for detection of MPL W515L mutation in patients with chronic myeloproliferative disorders.
|
19016916 |
2010 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A molecular fingerprint distinguishes JAK2(V617F)-positive MPN patients without response to HU treatment, with overexpression of JAK2, MAPK14, PIK3CA, and SFK genes.
|
21331593 |
2011 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Ninety-nine patients with MPN of 225 presenting the JAK2(V617F) mutation by qPCR have been evaluated by DD-PCR also.
|
26189968 |
2015 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Screening for JAK2 V617F may allow specific management of these diseases with JAK2 inhibitors in the future and highlights the need for further studies on the pathogenesis of BCR-ABL-negative JAK2 V617F-negative MPNs.
|
22304488 |
2012 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Screening for the JAK2 V617F mutation in CVT patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVT because of its relatively high prevalence and the risk of thrombosis recurrence.
|
28609766 |
2017 |