|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
T |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
UNIPROT |
A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.
|
15781101 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.
|
15781101 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
UNIPROT |
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.
|
15793561 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
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
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
UNIPROT |
A gain-of-function mutation of JAK2 in myeloproliferative disorders.
|
15858187 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Patients with PV who were homozygous or heterozygous for JAK2-V617F exhibited higher levels of expression of the 13 new markers, PRV1, and NF-E2 than patients without JAK2-V617F, whereas ANKRD15 was down-regulated in these patients.
|
16081684 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Similarly, in patients with PV, homozygous as compared with heterozygous JAK2(V617F) correlated with higher levels of PRV-1 expression (P = 0.11).
|
16197445 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Therefore, although the presence of JAK2(V617F) in ET appears to promote a PV phenotype, it might not carry treatment-relevant information.
|
16197451 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2 V617F) was found in 65% to 97% of polycythemia vera (PV) patients, as well as in approximately 50% of essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) patients.
|
16210033 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Therefore, by necessity, any discussion of PV must take into consideration these companion myeloproliferative disorders, and since erythrocytosis is the single clinical feature that sets PV apart from IMF and ET, it is clear that the presence of the JAK2 V617F</span> mutation cannot by itself establish a diagnosis of PV.
|
16210034 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Recently, a unique and clonal mutation in the JAK homology 2 (JH2) domain of JAK2 that results in a valine to phenylalanine substitution at position 617 (V617F) was found in the majority of PV patients.
|
16210035 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
In conclusion, JAK2(V617F) is a myeloid lineage-specific event, its incidence in MMM is significantly higher with an antecedent history of polycythaemia vera (PV), and its presence in AMM does not affect prognosis but is associated with PV-characteristic clinical features.
|
16225651 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Expression of the JAK2 V617F mutant renders Ba/F3 cells hypersensitive to insulin-like growth factor 1 (IGF1), which is a hallmark of PV erythroid progenitors.
|
16239216 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders.
|
16247455 |
2006 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Most patients with polycythemia vera and half with idiopathic myelofibrosis and essential thrombocythemia have an acquired V617F mutation in JAK2.
|
16293597 |
2006 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2 sequencing revealed a unique mutation in the JH2 domain leading to a V617F substitution in more than 80% of the PV samples.
|
16304380 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Recently, the JAK2 V617F mutation has been reported in high proportions of chronic myeloproliferative disorders, including polycythemia vera.
|
16321863 |
2006 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
Our results suggest that JAK2 V617F-positive essential thrombocythaemia and polycythaemia vera form a biological continuum, with the degree of erythrocytosis determined by physiological or genetic modifiers.
|
16325696 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
The results of the current clinical study support previous laboratory observations that link JAK2(V617F) with the PV phenotype by demonstrating a mutant allele dose effect on erythrocytosis and clinical and laboratory features characteristic of PV.
|
16369984 |
2006 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
A JAK2 (V617F) gene dosage effect on both CD34(+) cell counts and granulocyte activation was clearly demonstrated in polycythemia vera, where abnormal patterns were mainly found in patients carrying more than 50% mutant alleles.
|
16373657 |
2006 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
These results show the presence in PV erythroblasts of proliferative and antiapoptotic signals that may link the JAK2 V617F mutation with the inhibition of death receptor signaling, possibly contributing to a deregulation of erythropoiesis.
|
16384930 |
2006 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML).
|
16537803 |
2006 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
UNIPROT |
Here we isolated and characterized hematopoietic stem cells (HSC) and myeloid progenitors from 16 PV patient samples and 14 normal individuals, testing whether the JAK2 mutation could be found at the level of stem or progenitor cells and whether the JAK2 V617F-positive cells had altered differentiation potential.
|
16603627 |
2006 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation was detectable within HSC and their progeny in PV.
|
16603627 |
2006 |