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Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the Gene

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 EGLN1 gene encoding the negative HIF-1α regulator prolyl hydroxylase domain-2 (PHD2) in 3 patients with isolated erythrocytosis. These mutations impa...

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Main Authors: Joseph A. Moore MD (Author), Maimon E. Hubbi MD, PhD (Author), Chenliang Wang PhD (Author), Yingfei Wang PhD (Author), Weibo Luo PhD (Author), Sandra Hofmann MD, PhD (Author), Siayareh Rambally MD (Author)
Format: Book
Published: SAGE Publishing, 2020-07-01T00:00:00Z.
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Summary: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 EGLN1 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.
Item Description:2324-7096
10.1177/2324709620947256

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