Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Primary Myelofibrosis
|
1.000 |
CausalMutation
|
disease |
CGI |
|
|
|
Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|
Primary Myelofibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Primary Myelofibrosis
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The MPL gene expression was detected in platelets and peripheral blood mononuclear cells from the majority of patients with MPD including chronic myelocytic leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF).
|
8589367 |
1995 |
Primary Myelofibrosis
|
1.000 |
SomaticCausalMutation
|
disease |
ORPHANET |
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF.
|
16834459 |
2006 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF.
|
16834459 |
2006 |
Primary Myelofibrosis
|
1.000 |
SomaticCausalMutation
|
disease |
ORPHANET |
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.
|
16868251 |
2006 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis.
|
17709604 |
2007 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
More recently, another mutation in the juxtamembrane domain of the thrombopoietin receptor Mpl was discovered in about 5% of patients with CIMF and ET.
|
18220909 |
2007 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition, a mutation of the thrombopoietin receptor, MPLW515L, has been documented in some patients with IMF.
|
17222772 |
2007 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Haematopoietic cell lineage distribution of MPLW515L/K mutations in patients with idiopathic myelofibrosis.
|
17408398 |
2007 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Anaemia characterises patients with myelofibrosis harbouring Mpl mutation.
|
17408465 |
2007 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data indicate that MPL mutation in myelofibrosis characterises patients with more severe anaemic phenotype.
|
17408465 |
2007 |
Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
The chronic myeloproliferative disorders (MPD), polycythemia vera (PV), essential thrombocytosis, and idiopathic myelofibrosis (IMF), are characterized by a spectrum of clinical features and linked by common genetic lesions in JAK2 and MPL.
|
17920755 |
2007 |
Primary Myelofibrosis
|
1.000 |
AlteredExpression
|
disease |
LHGDN |
Demonstration of MPLW515K, but not JAK2V617F, in in vitro expanded CD4+ T lymphocytes.
|
17507998 |
2007 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
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 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.
|
18528423 |
2008 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we demonstrate that MPL mutations outside exon 10 are uncommon in platelet cDNA and identify 4 different exon 10 mutations in granulocyte DNA from a retrospective cohort of 200 patients with ET or IMF.
|
18451306 |
2008 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
JAK2 and MPL mutations in myeloproliferative neoplasms.
|
18566540 |
2008 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Based on the hypothesis that JAK-STAT signaling is central to the pathogenesis of JAK2V617F-negative MPN, genomic studies have identified JAK2 exon 12 mutations in JAK2V617F-negative PV and activating mutations in MPL in patients with JAK2V617F-negative ET and PMF.
|
18754026 |
2008 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Based on the hypothesis that JAK-STAT signaling is central to the pathogenesis of JAK2V617F-negative MPN, genomic studies have identified JAK2 exon 12 mutations in JAK2V617F-negative PV and activating mutations in MPL in patients with JAK2V617F-negative ET and PMF.
|
18754026 |
2008 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
For instance, the presence of a JAK2 mutation is now considered conditio sine qua non for the diagnosis of PV and the World Health Organization classification system has recently revised its diagnostic criteria for PV, ET, and PMF to include JAK2 and MPL mutations as clonal markers.
|
18429051 |
2008 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocythemia (ET, 1.0%) and was not detected in patients with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and chronic myelogenous leukemia (CML).
|
18464114 |
2008 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The other three cases of PMF with 1p uniparental disomy had point mutations of the MPL gene, either a novel mutation (S204F) or the previously described W515L.
|
18723266 |
2008 |