|
rs146249964
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Thrombocytopenia in c-mpl-deficient mice.
|
8073287 |
1994 |
|
rs146249964
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
|
11133753 |
2001 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The activating W515L mutation in the thrombopoietin receptor (MPL) has been identified in primary myelofibrosis and essential thrombocythemia.
|
19261614 |
2009 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF).
|
28990497 |
2018 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence.
|
31697803 |
2020 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
One patient with the MPL W515L was identified with a clinical picture of ET.
|
19843380 |
2009 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We developed a novel multiplexed allele-specific PCR assay capable of detecting most recurrent MPL exon 10 mutations associated with primary myelofibrosis and essential thrombocythemia (W515L, W515K, W515A, and S505N) down to a sensitivity of 2.5% mutant allele.
|
23994117 |
2013 |
|
rs121913615
|
|
|
0.100 |
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 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been identified and correlated with a subtype of essential thrombocythemia (ET) patients.
|
17920754 |
2007 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MPL W515L mutation in pediatric essential thrombocythemia.
|
23441089 |
2013 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Ph(-) MPN entities largely overlap with regard to JAK2(V617F) and MPL(W515L) allele burden, but ET displayed mutant allele burden <50%.
|
19616600 |
2009 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We analyzed Dkk3 serum levels with ELISA in patients with newly diagnosed and untreated MPN, including 10 essential thrombocythemia (ET), 10 polycythemia vera (PV), 10 primary meylofibrosis (PMF) and 10 healthy blood donors and correlated these findings with biological and clinical key data and the JAK2-V617F status.
|
24309205 |
2014 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The median V617F allele burden in PV patients was 40 %, MF was 95 %, and ET was 25 %.
|
24362471 |
2014 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis.
|
17317861 |
2007 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The prevalence of JAK2 V617F mutations is higher than 95% in PV, 50%-75% in ET and 40%-75% in PMF.
|
30502850 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Most children with ET have the JAK2 V617F somatic mutation; however, another mutation, involving a W to L or K substitution at Mpl codon 515, was reported in a small proportion of adult ET patients that is extremely rare in children.
|
25970554 |
2015 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and MPN-VT than in MPN-NoT group (P = 0.015), as well as the JAK2 V617F mutation in patients with essential thrombocythemia (P = 0.059).
|
25042466 |
2014 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been identified and correlated with a subtype of essential thrombocythemia (ET) patients.
|
17920754 |
2007 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in several myeloid proliferative neoplasms including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).
|
23666689 |
2013 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia).
|
22847163 |
2012 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Eleven JAK2(V617F) mutated patients developed 13 deep splanchnic thromboses in PV and ET.
|
22818858 |
2013 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The frequency of V617F was 65 percent among patients with polycythemia vera (83 of 128), 57 percent among patients with idiopathic myelofibrosis (13 of 23), and 23 percent among patients with essential thrombocythemia (21 of 93).
|
15858187 |
2005 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Here we show that NF-E2 expression is also increased in patients with essential thrombocythemia and primary myelofibrosis independent of the presence of the JAK2(V617F) mutation.
|
20339092 |
2010 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Serum proteome of ET patients was not influenced by the presence of JAK2-V617F or by high V617F allelic ratio (up to 50%) suggesting that ET phenotype is, at best, only partially influenced by the JAK2-V617F mutation.
|
18838204 |
2008 |