EPAS1

AcronymDefinition
EPAS1Endothelial PAS (Per Arnt Sim) 1 (protein)
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References in periodicals archive ?
beef cattle genomes to identify missense mutations in EPAS1, a gene associated with pulmonary hypertension.
Bernal et al., "Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis," Human Molecular Genetics, vol.
Zhuang, "Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia," Human Genome Variation, vol.
Genome-wide studies of Andean highlanders showed an overlap with Tibetan highlanders for variation in EGLN1 but not EPAS1 [25].
The EPAS1 variant helps Tibetans cope with constant oxygen deprivation, an extreme stress on the body, especially during pregnancy.
The gene, called EPAS1, is activated when oxygen levels in the blood drop, triggering production of more hemoglobin.
(San Diego, CA; 858-794-3420) announced that it has entered into an option agreement to license exclusive worldwide gene therapy rights from the University of Texas Southwestern Medical Center at Dallas (Dallas, TX) for the Endothelial PAS domain protein 1 (EPAS1) gene.
With the advancement of molecular pathogenesis, germline mutations in pheochromocytoma and/or paraganglioma (PPGL) susceptibility genes, such as NF1, RET, VHL, SDHD, SDHC, SDHB, SDHAF2, SDHA, TMEM127, MAX, EPAS1, and FH, have been identified during the past 15 years.
cytoskeleton Adipogenesis NCOR2, EPAS1, MEF2A, CDKN1A, RETN, et al.
Recently, the genetic studies on Tibetans' adaptation to high altitude indicated that a hypoxia pathway gene, EPAS1, had the most extreme signature of positive selection in Tibetans, and was shown to be associated with differences in hemoglobin concentration at high altitude.
Functional assays have shown that these mutations lead to stabilization of HIF1a, causing overexpression of hypoxia-induced angiogenic pathway genes, such as VEGF (vascular endothelial growth factor) and EPAS1 (endothelial PAS domain protein 1), providing therefore support for tumor growth [116-118].
Various changes in the same genes, called EGLN1 and EPAS1, have been credited with helping Tibetan people adapt to live at high altitudes.