Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|
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 |
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 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Furthermore, MPL mutations may occur concurrently with the JAK2V617F mutation, suggesting that these alleles may have functional complementation in myeloproliferative disease.
|
16868251 |
2006 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
More recently, activating mutations in the thrombopoietin receptor and in JAK2 exon 12 have been identified in JAK2V617F negative myeloproliferative disorders.
|
17906464 |
2007 |
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 |
GeneticVariation
|
group |
BEFREE |
With the discovery in the last 3 years of novel Janus kinase 2 (JAK2) and thrombopoietin receptor (MPL) mutations, the pathogenetic understanding of and clinical practice for myeloproliferative neoplasms (MPNs) have entered a new era.
|
18032973 |
2008 |
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 |
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 |
AlteredExpression
|
group |
BEFREE |
The relationship of JAK2 mutation to endogenous erythroid colony formation, thrombopoietin receptor mutation, polycythemia rubra vera-1 overexpression, and thrombopoietin receptor underexpression in myeloproliferative neoplasms are explored.
|
18538168 |
2008 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Oncogenic mutations in JAK2 and MPL genes have recently been identified in myeloproliferative neoplasms (MPNs).
|
18754034 |
2008 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
JAK2 and MPL mutations in myeloproliferative neoplasms.
|
18566540 |
2008 |
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 |
Finally, we report a novel constitutively active MPL mutant, MPLT487A, observed in a non-Down syndrome childhood AMKL that induces a myeloproliferative disease in mouse bone marrow transplantation assay.
|
18755984 |
2008 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science.
|
18754026 |
2008 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
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 |
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 |
Molecular mechanisms associated with leukemic transformation of MPL-mutant myeloproliferative neoplasms.
|
20823136 |
2010 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Induction of myeloproliferative disorder and myelofibrosis by thrombopoietin receptor W515 mutants is mediated by cytosolic tyrosine 112 of the receptor.
|
19996410 |
2010 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
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 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The classic myeloproliferative neoplasms (MPNs) include polycythemia vera and essential thrombocythemia; their molecular basis has been described only recently with the demonstration of recurrent mutations in JAK2 or MPL.
|
19789961 |
2010 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms.
|
20304805 |
2010 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The discovery of JAK2 and MPL mutations in patients with myeloproliferative neoplasms (MPNs) provided important insight into the genetic basis of these disorders and led to the development of JAK2 kinase inhibitors for MPN therapy.
|
20154217 |
2010 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
miR-28 is a thrombopoietin receptor targeting microRNA detected in a fraction of myeloproliferative neoplasm patient platelets.
|
20445018 |
2010 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
To investigate its mutation types and prevalence in Chinese patients with myeloproliferative neoplasms (MPN), we performed mutation detection on MPL exon10 in 103 JAK2V617F-negative MPN patients by single strand conformation polymorphism (SSCP) and allele-specific PCR (AS-PCR) combined with sequencing.
|
21555228 |
2011 |