rs17292650
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a single nucleotide substitution (G1238T) that results in a change from lysine to asparagine at amino acid 39 (K39N) in three African-American women referred for an evaluation of an MPD.
|
15269348 |
2004 |
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 |
rs121913616
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of function point mutation W515K/L in approximately 5% of patients with primary myelofibrosis/idiopathic myelofibrosis (PMF) representing one subtype of the chronic myeloproliferative disorders (myeloproliferative neoplasm).
|
19194467 |
2009 |
rs121913614
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The S505N mutation, associated with familial MPD, was detected in 3 patients.
|
21326037 |
2011 |
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Rapid real-time PCR assay for detection of MPL W515L mutation in patients with chronic myeloproliferative disorders.
|
19016916 |
2010 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs121913616
|
|
|
0.020 |
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 |
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 |