rs10974944
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.810 |
GeneticVariation |
GWASDB |
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
|
19287384 |
2009 |
rs10974944
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.810 |
GeneticVariation |
BEFREE |
The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms.
|
20422415 |
2010 |
rs10974944
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.810 |
GeneticVariation |
GWASCAT |
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
|
19287384 |
2009 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The recurrent V617F mutation in JAK2 (JAK2V617F) has emerged as the primary contributor to the pathogenesis of myeloproliferative neoplasms (MPN).
|
26755644 |
2016 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Myeloproliferative neoplasms (MPNs) are characterized by overproduction of mature functional blood cells and are often associated with an acquired genetic mutation of Janus Kinase 2(V617F).The etiology of MPNs remains unknown.
|
22076943 |
2012 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
We conducted a microdissection study of JAK2-V617F-mutated myeloproliferative neoplasms (MPN); 10 cases each of ET, PV, and PMF, with separate analysis of the JAK2 mutation status in three hematopoietic cell lines (i.e., megakaryo-, granulo-, and erythropoiesis).
|
22006129 |
2011 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The assay characteristics and our initial evaluation indicate this method can be used for the detection and quantification of JAK2 V617F, which should be useful for diagnosis of myeloproliferative neoplasms and potentially for monitoring minimal residual disease in future trials of therapies targeted to myeloproliferative neoplasms.
|
19959796 |
2010 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Non-reactive platelet counts elevation occurs mainly in myeloproliferative disorders (MPDs), which have been reported to be closely associated with JAK2 V617F mutation.
|
23469088 |
2013 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
We conclude that JAK2 V617F mutation is uncommon in the 3q21q26 syndrome and that its presence may indicate an unusual coexistence of a myeloproliferative neoplasm.
|
20153505 |
2010 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The V617F activating point mutation in Jak2 is associated with a proportion of myeloproliferative disorders.
|
18216297 |
2008 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
An acquired somatic mutation in the JAK2 gene (JAK2-V617F) is present in the majority of patients with myeloproliferative disorders (MPDs).
|
18160670 |
2008 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myeloproliferative disorders presenting with erythrocytosis.
|
18055983 |
2007 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
We identified a haplotype that preferentially acquires JAK2(V617F) and confers susceptibility to myeloproliferative neoplasms.
|
19287385 |
2009 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Moreover, cases of myeloproliferative neoplasms (MPN) with low levels of JAK2 V617F mRNA were even missed in QST when lysis buffer RLT Plus was used, but they were readily detected after addition of BME.
|
23614569 |
2013 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Laboratory testing for the presence of the V617F mutation in JAK2 has taken on great importance in the diagnosis of myeloproliferative disorders.
|
21118387 |
2011 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Identification of oncostatin M as a JAK2 V617F-dependent amplifier of cytokine production and bone marrow remodeling in myeloproliferative neoplasms.
|
22051730 |
2012 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Accordingly, genetic and pharmacological IGF1R inhibitory strategies prevent the hematological disease found in AIRAPL-deficient mice as well as that in mice carrying the Jak2(V617F) mutation, thereby demonstrating the causal involvement of this pathway in the pathogenesis of myeloproliferative neoplasms.
|
26692333 |
2016 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Because of the clinical importance of this mutation (JAK2 V617F) in diagnosing myeloproliferative disorders and its relevance for disease progression, we developed a semi-quantitative real-time PCR test to detect JAK2 V617F.
|
17006961 |
2006 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The discovery of the JAK(V617F) kinase established a common pathogenetic link to the most important types of Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs): polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).
|
21521147 |
2011 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 p.V617F allele burden in myeloproliferative neoplasms one month after allogeneic stem cell transplantation significantly predicts outcome and risk of relapse.
|
23300178 |
2013 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associated tyrosine kinase in patients with polycythemia vera (PV) and other BCR/ABL-negative myeloproliferative disorders prompted many groups around the world to examine diverse subsets of patients with myeloid diseases for the prevalence of the JAK2 V617F mutation and its clinical and pathological associations.
|
17194663 |
2006 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2(V617F) mutation is frequently observed in classical myeloproliferative disorders, and disease progression is associated with a biallelic acquisition of the mutation occurring by mitotic recombination.
|
18515659 |
2008 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The first international meeting on V617F JAK2 mutation and its relevance in Philadelphia-negative myeloproliferative disorders.
|
16901656 |
2007 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Here we report the first human disease-related mutations in the adaptor protein LNK, a negative regulator of JAK-STAT signaling, in 2 patients with JAK2 V617F-negative myeloproliferative neoplasms (MPNs).
|
20404132 |
2010 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Expression level and differential JAK2-V617F-binding of the adaptor protein Lnk regulates JAK2-mediated signals in myeloproliferative neoplasms.
|
20870899 |
2010 |