|
Myelofibrosis
|
|
0.810 |
GeneticVariation
|
BEFREE |
A series of primary and secondary acute myeloid leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=12) was analysed for the MPL(W515K/L) mutation by pyrosequencing.
|
19194467 |
2009 |
|
Myelofibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.
|
16834459 |
2006 |
|
Myelofibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.
|
16868251 |
2006 |
|
Myelofibrosis
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
Primary Myelofibrosis
|
|
0.050 |
GeneticVariation
|
BEFREE |
Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with PMF according to previous studies.
|
25176567 |
2014 |
|
Primary Myelofibrosis
|
|
0.050 |
GeneticVariation
|
BEFREE |
In order to identify novel somatic mutations associated with classic BCR/ABL1-negative myeloproliferative neoplasms, we performed high-coverage genome sequencing of DNA from peripheral blood granulocytes and cultured skin fibroblasts from a patient with MPL W515K-positive primary myelofibrosis.
|
23872309 |
2013 |
|
Primary Myelofibrosis
|
|
0.050 |
GeneticVariation
|
BEFREE |
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO).
|
20113333 |
2010 |
|
Primary Myelofibrosis
|
|
0.050 |
GeneticVariation
|
BEFREE |
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoietin, have been reported in patients with primary essential thrombocythemia (ET) or primary myelofibrosis (PMF).
|
19274616 |
2010 |
|
Primary Myelofibrosis
|
|
0.050 |
GeneticVariation
|
BEFREE |
A series of primary and secondary acute myeloid leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=12) was analysed for the MPL(W515K/L) mutation by pyrosequencing.
|
19194467 |
2009 |
|
Thrombocythemia, Essential
|
|
0.040 |
GeneticVariation
|
BEFREE |
The JAK2 V617F mutation, the thrombopoietin receptor MPL W515K/L mutation and calreticulin (CALR) mutations are mutually exclusive in essential thrombocythemia and support a novel molecular categorization of essential thrombocythemia.
|
25934766 |
2015 |
|
Thrombocythemia, Essential
|
|
0.040 |
GeneticVariation
|
BEFREE |
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoietin, have been reported in patients with primary essential thrombocythemia (ET) or primary myelofibrosis (PMF).
|
19274616 |
2010 |
|
Thrombocythemia, Essential
|
|
0.040 |
GeneticVariation
|
BEFREE |
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO).
|
20113333 |
2010 |
|
Thrombocythemia, Essential
|
|
0.040 |
GeneticVariation
|
BEFREE |
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis.
|
19843380 |
2009 |
|
Myeloproliferative disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
The ability to simultaneously detect JAK2 V617F and MPL W515K/L mutations would substantially improve the early diagnosis of myeloproliferative neoplasms (MPNs) and decrease the risk of arterial thrombosis.
|
28819248 |
2017 |
|
Myeloproliferative disease
|
|
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 |
|
Chronic myeloproliferative disorder
|
|
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 |
|
Chronic myeloproliferative disorder
|
|
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 |
|
Familial thrombocytosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis.
|
19843380 |
2009 |
|
Polycythemia Vera
|
|
0.010 |
GeneticVariation
|
BEFREE |
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis.
|
19843380 |
2009 |
|
secondary acute myeloid leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
None of the secondary AML cases evolving from pre-existing PMF showed MPL(W515K/L) (n=4).
|
19194467 |
2009 |