Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Myeloproliferative neoplasms (MPNs) are stem cell-derived clonal myeloid malignancies characterized by a unique somatic mutational profile since three mutually exclusive mutations (JAK2V617F, MPL, and CALR) sustain the great majority of the cases.
|
25139710 |
2014 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Myeloproliferative neoplasms (MPNs) often carry JAK2(V617F), MPL(W515L), or CALR(del52) mutations.
|
29042365 |
2017 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Myeloproliferative neoplasms (MPNs) are associated with somatic mutations of genes including JAK2, CALR, or MPL in hematopoietic stem cells.
|
31377025 |
2019 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.
|
18451306 |
2008 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
MPL gene mutations seem to be associated with thrombocytosis, regardless of the type of myeloproliferative neoplasm.
|
19643476 |
2010 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
MPL mutation profile in JAK2 mutation-negative patients with myeloproliferative disorders.
|
21326037 |
2011 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
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 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Proto-oncogene c-mpl is involved in spontaneous megakaryocytopoiesis in myeloproliferative disorders.
|
8562412 |
1996 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A multiplex snapback primer system for the enrichment and detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia-negative myeloproliferative neoplasms.
|
24729973 |
2014 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
A Phenotypic Screen for Small-Molecule Inhibitors of Constitutively Active Mutant Thrombopoietin Receptor Implicated in Myeloproliferative Neoplasms.
|
27748177 |
2016 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
LHGDN |
A sensitive detection method for MPLW515L or MPLW515K mutation in chronic myeloproliferative disorders with locked nucleic acid-modified probes and real-time polymerase chain reaction.
|
18669880 |
2008 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Adaptor protein Lnk negatively regulates the mutant MPL, MPLW515L associated with myeloproliferative disorders.
|
17693582 |
2007 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
An inhibitor for the thrombopoietin receptor (TpoR) would be more specific for the treatment of myeloproliferative neoplasms (MPNs) due to constitutively active mutant TpoR compared to the current treatment approach of inhibiting Janus kinase 2 (JAK2).
|
29736709 |
2018 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders (MPD).
|
18464114 |
2008 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
BCR/ABL1-negative myeloproliferative neoplasms (MPNs) are characterized by recurrent mutations in JAK2, CALR, and MPL, each of which has been reported to alter JAK/STAT signaling pathways.
|
27258562 |
2018 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
CALR mutations are identified in about 30% of JAK2/MPL-unmutated myeloproliferative neoplasms (MPNs) including essential thrombocythemia (ET) and primary myelofibrosis.
|
27716741 |
2016 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
CALR mutations screening in wild type JAK2(V617F) and MPL(W515K/L) Brazilian myeloproliferative neoplasm patients.
|
26227853 |
2015 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
CALR, JAK2 and MPL mutation status in Argentinean patients with BCR-ABL1- negative myeloproliferative neoplasms.
|
28990497 |
2018 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
CALR, JAK2, and MPL mutation profiles in patients with four different subtypes of myeloproliferative neoplasms: primary myelofibrosis, essential thrombocythemia, polycythemia vera, and myeloproliferative neoplasm, unclassifiable.
|
25873496 |
2015 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Calreticulin (CALR) mutations are present in 50% to 85% of JAK2/MPL wild-type (wt) myeloproliferative neoplasms (MPNs).
|
27124925 |
2016 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Clonal proliferation in myeloproliferative neoplasms (MPN) is driven by somatic mutations in JAK2, CALR or MPL, but the contribution of inherited factors is poorly characterized.
|
25849990 |
2015 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
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 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Considering these results, we propose that mutant CALR promotes myeloproliferative neoplasm development by activating c-MPL and its downstream pathway.
|
26817954 |
2016 |
Myeloproliferative disease
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Decreased expression of c-MPL protein in platelets, increased expression of polycythemia rubra vera 1 (PRV-1) and nuclear factor I-B (NFIB) mRNA in granulocytes, and loss of heterozygosity on chromosome 9p (9pLOH) were described as molecular markers for myeloproliferative disorders (MPDs).
|
12730106 |
2003 |