Hypoxia-inducible factor-1 (HIF-1) is a key regulator of erythropoiesis. In this article, we report 3 novel mutations, P378S, A385T, and G206C, on the gene encoding the negative HIF-1α regulator prolyl hydroxylase domain-2 (PHD2) in 3 patients with isolated erythrocytosis. These mutations impair PHD2 protein stability and partially reduce PHD2 activity, leading to increased HIF-1α protein levels in cultured cells.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7543148 | PMC |
| http://dx.doi.org/10.1177/2324709620947256 | DOI Listing |
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Article Synopsis
- - Pathogenic variants (PVs) in the EPAS1 gene, which influences the hypoxia-inducible factor HIF-2α, are linked to about 3%-6% of pheochromocytoma and paragangliomas (PPGLs), either as standalone tumors or as part of Pacak-Zhuang Syndrome (PZS) which may include additional symptoms like polycythemia and somatostatinoma.
- - The mutations in EPAS1 allow HIF-2α to escape from degradation processes, leading to its accumulation and activation of genes that promote tumor formation, particularly in those diagnosed in their second or third decade of life, with a higher prevalence in females.
- - Research into the hyp
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