×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
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
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
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
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
UNIPROT
Here, we describe a clonal and recurrent mutation in the JH2 pseudo-kinase domain of the Janus kinase 2 (JAK2 ) gene in most (> 80%) polycythaemia vera patients.
15793561 2005
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
UNIPROT
A gain-of-function mutation of JAK2 in myeloproliferative disorders.
15858187 2005
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
SomaticCausalMutation
ORPHANET
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
Biomarker
MGD
Physiological Jak2V617F expression causes a lethal myeloproliferative neoplasm with differential effects on hematopoietic stem and progenitor cells.
20541703 2010
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
Biomarker
MGD
Myeloproliferative neoplasm induced by constitutive expression of JAK2V617F in knock-in mice.
20472827 2010
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
"The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the ""early"" prepolycythemic phase of polycythemia vera and essential thrombocythemia."
18701405 2008
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
Identification of an acquired JAK2 mutation in polycythemia vera.
15863514 2005
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
We conclude that a burden of JAK2 (V617F) allele greater than 75% at diagnosis points to PV patients with high-risk disease.
17625606 2007
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
Biomarker
LHGDN
Long-term bone marrow cultures (LTBMC) from essential thrombocythemia (ET) patients with or without JAK2617V>F mutation.
18321571 2008
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera.
17389763 2007
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
Cellular origin and lineage specificity of the JAK2(V617F) allele in polycythemia vera.
17190855 2007
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera.
16620973 2007
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis.
18056003 2007
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
AlteredExpression
LHGDN
Rapid decline of JAK2V617F levels during hydroxyurea treatment in patients with polycythemia vera and essential thrombocythemia.
18519514 2008
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science.
18754026 2008
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera.
17597810 2007
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
Frequent reduction or absence of detection of the JAK2-mutated clone in JAK2V617F-positive patients within the first years of hydroxyurea therapy.
18728027 2008
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature.
19167611 2009
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
Furthermore, CP-690,550 treatment of ex-vivo-expanded erythroid progenitors from JAK2 (V617F )-positive PV patients resulted in specific, antiproliferative (IC(50) = 0.2 microM) and pro-apoptotic activity.
18482053 2008
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
17267906 2007
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
JAK2 and MPL mutations in myeloproliferative neoplasms.
18566540 2008
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis.
16434490 2006
×
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Polycythemia Vera
1.000
GeneticVariation
LHGDN
[A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera ].
15985214 2005