|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Nonmosaic somatic HIF2A mutations associated with late onset polycythemia-paraganglioma syndrome: Newly recognized subclass of polycythemia-paraganglioma syndrome.
|
30644531 |
2019 |
|
Polycythemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Here, using genetic knockout cells and/or mice, we show that JNK2, but not JNK1, up-regulates the expression of HIF-1α and HIF-2α and contributes to hypoxia-induced PH and polycythemia.
|
29118187 |
2018 |
|
Polycythemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings suggest that neuroendocrine tumor pathogenesis requires a higher HIF-2α dose than polycythemia, which requires only a mild increase in HIF-2α activity.
|
30135421 |
2018 |
|
Polycythemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Thus, a new approach to the treatment of patients with Chuvash polycythemia may include dietary supplementation of Tempol, which decreased Hif2α expression and markedly reduced life-threatening erythrocytosis/polycythemia in the VhlR200W mice.
|
29480820 |
2018 |
|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In patients diagnosed with PHEO/PGL and polycythemia with negative genetic testing for mutations in HIF2A, PHD1/2, and VHL, IRP1 should be considered as a candidate gene.
|
29534684 |
2018 |
|
Polycythemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, we found that the Tibetan version of EPAS1 is not only associated with the relatively low hemoglobin level as a polycythemia protectant, but also is associated with a low pulmonary vasoconstriction response in Tibetans.
|
28096303 |
2017 |
|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Firstly, we identified a rare but well studied germline mutation resulting in polycythemia in HIF2A (c.1609G>A, p.Gly537Arg) in the blood of the patient and his daughter.
|
29172931 |
2017 |
|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The HIF2α mutation-induced polycythemia with PCC/PGL is a rare syndrome with no treatment for cure.
|
28116635 |
2017 |
|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in HIF2A have been reported in PPGLs associated with polycythemia, which have been reported to also be present in patients with RCCs and HBs.
|
26514359 |
2016 |
|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, activating mutations of the hypoxia-inducible factor 2α gene (HIF2A/EPAS1) have been recognized to predispose to multiple paragangliomas (PGLs) and duodenal somatostatinomas associated with polycythemia, and ocular abnormalities.
|
27659016 |
2016 |
|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, HIF2A somatic mutations were found in several patients with polycythemia and paraganglioma, pheochromocytoma, or somatostatinoma, suggesting the occurrence of a de novo postzygotic HIF2A mutation that has not been demonstrated clearly.
|
24276449 |
2014 |
|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recent data suggest that both clusters are interconnected via the HIF signaling and its role in tumorigenesis is supported by newly described somatic and germline mutations in HIF2A gene in patients with PHEOs/PGLs associated with polycythemia, and in some of them also with somatostatinoma.
|
24908231 |
2014 |
|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Somatic gain-of-function mutations in the gene encoding HIF-2α were reported in patients with paraganglioma and polycythemia and have been found exclusively in female patients.
|
24819565 |
2014 |
|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas.
|
23361906 |
2013 |
|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, our patient is the only described case of a de novo HIF2A mutation associated with the development of congenital polycythemia.
|
23716564 |
2013 |
|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, a new syndrome characterized by multiple PGLs and somatostatinomas associated with congenital polycythemia due to somatic mutations in HIF2A has been reported.
|
23539726 |
2013 |
|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This report, in view of two other concomitantly reported PHEO/PGL patients with somatic mutations of HIF2A and polycythemia, underscores the PHEO/PGL-promoting potential of mutations of HIF2A that alone are not sufficient for PHEO/PGL development.
|
23090011 |
2013 |
|
Polycythemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we report two novel somatic gain-of-function mutations in the gene encoding hypoxia-inducible factor 2α (HIF2A) in two patients, one presenting with paraganglioma and the other with paraganglioma and somatostatinoma, both of whom had polycythemia.
|
22931260 |
2012 |