|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in JAK2, MPL and CALR are highly relevant to the Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs).
|
25023898 |
2014 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
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 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genotyping for CALR mutations represents a novel useful tool for establishing a clonal myeloproliferative disorder in JAK2 and MPL wt patients with thrombocytosis and may have prognostic and therapeutic relevance.
|
24371211 |
2014 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Nonfamilial, MPL S505N-Mutated Essential Thrombocythaemia.
|
23970983 |
2013 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic assays for the detection of the JAK2 V617F (c.1849G>T) and other pathogenetic mutations within JAK2 exon 12 and MPL exon 10 are part of the routine diagnostic workup for patients presenting with erythrocytosis, thrombocytosis or otherwise suspected to have a myeloproliferative neoplasm.
|
23057517 |
2013 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The discovery of activating mutations in JAK2 and MPL in a majority of patients with myeloproliferative neoplasms (MPN) has led to the rapid clinical development of several JAK kinase inhibitors.
|
23670175 |
2013 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This review first considers the factors that may influence phenotype in JAK2-mutated MPNs, especially polycythemia vera (PV) and essential thrombocythemia (ET), and then discusses the mutations implicated in JAK2-negative MPNs such as in MPL and epigenetic regulators.
|
23009934 |
2012 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, TET2 and ASXL1 pathogenic mutations are found in 8% of MPN lacking JAK2 and MPL mutations, whereas IDH1, IDH2, and c-CBL mutations are not detected in this subset of patients.
|
21904853 |
2012 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The identification of somatic activating mutations in JAK2 (refs 1–4) and in the thrombopoietin receptor gene (MPL) in most patients with myeloproliferative neoplasm (MPN) led to the clinical development of JAK2 kinase inhibitors.
|
22820254 |
2012 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Comparative genomic hybridization (CGH) array and targeted sequencing detected no mutation in nine genes reported to influence the JAK2V617F-driven MPNs (MPL, LNK, CBL, TET2, EZH2, IKZF1, IDH1, IDH2, ASXL1).
|
22749035 |
2012 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The importance of understanding the role of mutations in JAK2, MPL, and other genes that have been discovered in MPNs is highlighted by the change in the 2008 WHO MPN classification system.
|
22706852 |
2012 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations of thrombopoietin, the thrombopoietin receptor (MPL), and the erythropoietin receptor and mutations of other genes involved in the pathogenesis of MPD were investigated in JAK2 wild-type patients.
|
22262773 |
2012 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In most of the classic Philadelphia-negative MPNs-polycythemia vera (PV), essential thrombocythemia (ET), and MPN-associated myelofibrosis (MPN-MF)-oncogenic mutations affecting JAK2 or MPL lead to constitutive activation of cytokine-regulated intracellular signalling pathways.
|
22278747 |
2012 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.
|
21228032 |
2011 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We evaluated the prevalence of MPL mutations relative to JAK2 mutations in patients with suspected MPDs.
|
21326037 |
2011 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the thrombopoietin receptor (MPL) may activate relevant pathways and lead to chronic myeloproliferative neoplasms (MPNs).
|
21858098 |
2011 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition, MPL mutation was associated with Chinese MPN patients.
|
21555228 |
2011 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MPL exon 10 mutations were the second class of mutations shown to be associated with the pathogenesis of some Philadelphia chromosome - negative myeloproliferative neoplasms (MPNs).
|
21570117 |
2011 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MPL mutations are neither frequent nor specific enough to warrant their routine use for MPN diagnosis, but they may be useful in resolving specific diagnostic problems.
|
21723416 |
2011 |
|
Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mice lacking the inhibitory adaptor protein Lnk display deregulation of thrombopoietin/thrombopoietin receptor signaling pathways and exhibit similar myeloproliferative characteristics to those found in MPN patients, suggesting a role for Lnk in the molecular pathogenesis of these diseases.
|
20870899 |
2010 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Important changes include (1) the change of nomenclature of myeloproliferative disorder to myeloproliferative neoplasm emphasizing the clonal nature of these disorders; (2) the classification of mast cell disease as an MPN; (3) the reorganization of the eosinophilic disorders into a molecularly defined category of PDGFRA, PDGFRB and FGFR1-associated myeloid and lymphoid neoplasms with eosinophilia and chronic eosinophilic leukemia, not otherwise specified; and (4) refinement of the diagnostic criteria for PV, ET and PMF incorporating recently described molecular markers, JAK2V617F, JAK2 exon 12 mutations and MPL mutations.
|
20191332 |
2010 |
|
Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
We propose that TpoR cytosolic phosphorylated Y112 and flanking sequences could become targets for pharmacologic inhibition in MPNs.
|
19996410 |
2010 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MPL gene mutations seem to be associated with thrombocytosis, regardless of the type of myeloproliferative neoplasm.
|
19643476 |
2010 |
|
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recurrent mutations in JAK2 or MPL have been described in MPNs and serve as disease markers.
|
20425393 |
2010 |
|
Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
The thrombopoietin receptor (TpoR, MPL) is one of the major dimeric cytokine receptors that use JAK2 in the myeloid lineage, and was found to be down-modulated in certain MPN patients.
|
20445018 |
2010 |