Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Phenotype transformation to polycythemia was proven to be possible within the group of JAK2-mutated ET; however, cause of this effect remains uncertain.
|
31449697 |
2019 |
Polycythemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
To test this, C57BL/6J chow-fed mice received either chronic intraperitoneal (ip) or repeated intracerebroventricular (icv) administration of the selective Jak2 inhibitor NVP-BSK805, which was proven efficacious in treating polycythemia in rodents.
|
29867515 |
2018 |
Polycythemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Investigation for polycythaemia and thrombocytosis showed JAK2 positive myeloproliferative neoplasm.A diagnosis of AOP infarction is often missed or delayed because it is rare and presents with variable neurological symptoms.
|
29592977 |
2018 |
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozygotes is due to the loss of JAK2 regulation from VHL R200W and H191D binding to SOCS1.
|
23403324 |
2013 |
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis.
|
22234689 |
2012 |
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera Study Group or World Health Organization 2001 criteria.
|
22262773 |
2012 |
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Nested high-resolution melting curve analysis a highly sensitive, reliable, and simple method for detection of JAK2 exon 12 mutations--clinical relevance in the monitoring of polycythemia.
|
21497288 |
2011 |
Polycythemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Potent and selective inhibition of polycythemia by the quinoxaline JAK2 inhibitor NVP-BSK805.
|
20587663 |
2010 |
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
JAK2 exon 12 mutation in JAK2V617F-negative polycythemia vera.
|
18297539 |
2008 |
Polycythemia
|
0.500 |
Biomarker
|
disease |
LHGDN |
Validity test study of JAK2 V617F and allele burden quantification in the diagnosis of myeloproliferative diseases.
|
18575865 |
2008 |
Polycythemia
|
0.500 |
Biomarker
|
disease |
CTD_human |
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
|
17267906 |
2007 |
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
|
17267906 |
2007 |
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis.
|
17317861 |
2007 |
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis.
|
18056003 |
2007 |
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
At the forefront are the mutually exclusive exon 14 (JAK2V617F) and exon 12 JAK2 mutations that are almost always present in PV but not in polycythemias of other causes.
|
17493421 |
2007 |
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera.
|
17389763 |
2007 |
Polycythemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Polycythemia and reticulocytosis responded to treatment with imatinib or a JAK2 inhibitor, but were unresponsive to the Src inhibitor dasatinib.
|
17183644 |
2006 |
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This work demonstrates that JAK2(V617F) is sufficient for polycythemia and fibrosis development and offers an in vivo model to assess novel therapeutic approaches for JAK2(V617F)-positive pathologies.
|
16670266 |
2006 |
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Retroviral transduction of the mutant JAK2 into murine HSC leads to the development of an MPD with polycythemia.
|
16304380 |
2005 |
Polycythemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Functional analysis demonstrates that this mutation confers erythropoietin-independent growth in vitro, deregulates signaling pathways downstream of JAK2, and causes polycythemia in mice.
|
15837617 |
2005 |
Polycythemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|