|
rs121913614
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The diagnosis and clinical course of a case of MPL S505N-positive MPN are presented with diagnostic features and treatment response resembling typical ET but with evidence of increasing bone marrow fibrosis.
|
23970983 |
2013 |
|
rs121913614
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The S505N mutation, associated with familial MPD, was detected in 3 patients.
|
21326037 |
2011 |
|
rs121913614
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.
|
18451306 |
2008 |
|
rs121913614
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.
|
18528423 |
2008 |
|
rs121913504
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121913520
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121913504
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic resistance to JAK2 enzymatic inhibitors is overcome by HSP90 inhibition.
|
22271575 |
2012 |
|
rs1057519752
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.
|
21228032 |
2011 |
|
rs121913504
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Preclinical characterization of atiprimod, a novel JAK2 AND JAK3 inhibitor.
|
20372971 |
2011 |
|
rs121913504
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
CYT387, a novel JAK2 inhibitor, induces hematologic responses and normalizes inflammatory cytokines in murine myeloproliferative neoplasms.
|
20385788 |
2010 |
|
rs121913520
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.
|
19175693 |
2009 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MPN driver mutations in genes associated with the JAK-STAT pathway include JAK2 V617F, JAK2 exon 12 mutations and mutations in MPL, CALR, and CSF3R.
|
31778606 |
2020 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The JAK2 46/1 haplotype, but not the TERT rs2736100 SNP, was correlated to the JAK2 V617F mutant allele burden in JAK2 V617F-positive MPN patients.
|
31571131 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The majority (94%) of patients were positive for the JAK2 V617F mutation, whilst in 29% recurrent ICVEs (range two to three) were noted prior to MPN diagnosis.
|
30629793 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Consistent with this, treatment with a small molecule IRAK1/4 inhibitor rescued the aberrantly elevated IL-1β production in the JAK2-V617F MPN model.
|
31434702 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Calreticulin (CALR) gene mutations are currently recommended as biomarkers in diagnosis of patients with myeloproliferative neoplasms (MPN) with Jak2 V617F negative phenotype.
|
31248375 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The majority of patients with Philadelphia-negative myeloproliferative neoplasms (MPNs) harbor a gain of function mutation V617F in Janus kinase (JAK) 2.
|
31227936 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Tyrosine-phosphorylated SOCS3 negatively regulates cellular transformation mediated by the myeloproliferative neoplasm-associated JAK2 V617F mutant.
|
31255914 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the absence of BCR-ABL, the conventional diagnostic algorithm recommends JAK2 V617F mutation testing to support diagnosis of other MPN diseases such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
|
30772299 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The V617F mutation in the JH2 domain of JAK2 is an oncogenic driver in several myeloproliferative neoplasms (MPNs), including essential thrombocythemia, myelofibrosis, and polycythemia vera (PV).
|
31697804 |
2019 |
|
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 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Detection of the JAK2 V617F mutation is a key step in the diagnosis of myeloproliferative neoplasms (MPN).
|
29150911 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
While the influence of JAK2 V617F mutant allele burden on the clinical phenotype of MPN patients is well-described, the impact of CALR mutant allele burden on clinical features needs further investigation.
|
29306106 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These findings in this largest study of JAK2 V617F-mutated AMLs indicate that AML-DN is distinct from AML-MPN.
|
29767839 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Surprisingly, JAK2 46/1 haplotype was associated significantly not only with JAK2 V617F-mutated MPN, but also with CALR-mutated MPN (OR = 1.4; 95% CI = 1.1-1.8; P-value = .01).
|
29047144 |
2018 |