|
rs1131691903
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.
|
28453180 |
2017 |
|
rs121913614
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy.
|
19713221 |
2010 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
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 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
BEFREE |
We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.
|
19194467 |
2009 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Of 217 patients with myelofibrosis, 19 (8.7%) harbored the MPLW515 mutation, 10 (52.6%) with the W515L allele.
|
18669880 |
2008 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT.
|
20062088 |
2010 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis.
|
17709604 |
2007 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
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 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.
|
16868251 |
2006 |
|
rs121913615
|
|
T |
0.870 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
BEFREE |
The clinical and haematological phenotype of patients with myelofibrosis harbouring MPL(W515L/K) mutation has not been thoroughly investigated.
|
17408465 |
2007 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
BEFREE |
The thrombopoietin receptor (MPL) has been shown to be mutated (MPL W515L) in myelofibrosis and thrombocytosis yet new approaches to treat this disorder are still required.
|
26919114 |
2016 |
|
rs121913616
|
|
|
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 |
|
rs121913616
|
|
AA |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121913616
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.
|
16834459 |
2006 |
|
rs121913616
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.
|
16868251 |
2006 |
|
rs201478192
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patients with chronic idiopathic myelofibrosis (IM), but whether it occurs in a common myelo-lymphoid, rather than a myeloid-restricted, progenitor cell is still debated.
|
17296581 |
2007 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the development of JAK2 inhibitors.
|
24856675 |
2014 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Moreover, none of the ET patients with JAK2 V617F and chromosome changes other than add(18)(p11) developed myelof</span>ibrosis.
|
18786436 |
2008 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis.
|
22300941 |
2012 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can clearly separate distinct risk groups and can be used in addition to the Lille model to predict OS after RIC-ASCT for myelofibrosis.
|
22280409 |
2012 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013.
|
25870379 |
2015 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Higher JAK2(V617F) allele burden correlated with more advanced myelofibrosis, greater splenomegaly, and higher white blood cell count, but not with age, gender, hematocrit level, or frequency of phlebotomy prior to cytoreductive therapy.
|
20650526 |
2011 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
About half of patients with myelofibrosis carry a gain-of-function mutation in the Janus kinase 2 gene (JAK2 V617F) that contributes to the pathophysiology of the disease.
|
20843246 |
2010 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a characteristic feature of the classical myeloproliferative neoplasms (MPNs) polycythemia vera, essential thrombocythemia, and myelofibrosis, and it is thought to be responsible for the constitutional symptoms associated with these diseases.
|
25912019 |
2015 |