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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SAGE Publishing,
2020-07-01T00:00:00Z.
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| 001 | doaj_82cbfb1b9ad8418a96aacb49c56cc27f | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Joseph A. Moore MD |e author |
| 700 | 1 | 0 | |a Maimon E. Hubbi MD, PhD |e author |
| 700 | 1 | 0 | |a Chenliang Wang PhD |e author |
| 700 | 1 | 0 | |a Yingfei Wang PhD |e author |
| 700 | 1 | 0 | |a Weibo Luo PhD |e author |
| 700 | 1 | 0 | |a Sandra Hofmann MD, PhD |e author |
| 700 | 1 | 0 | |a Siayareh Rambally MD |e author |
| 245 | 0 | 0 | |a Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the Gene |
| 260 | |b SAGE Publishing, |c 2020-07-01T00:00:00Z. | ||
| 500 | |a 2324-7096 | ||
| 500 | |a 10.1177/2324709620947256 | ||
| 520 | |a 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. | ||
| 546 | |a EN | ||
| 690 | |a Medicine (General) | ||
| 690 | |a R5-920 | ||
| 690 | |a Pathology | ||
| 690 | |a RB1-214 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Journal of Investigative Medicine High Impact Case Reports, Vol 8 (2020) | |
| 787 | 0 | |n https://doi.org/10.1177/2324709620947256 | |
| 787 | 0 | |n https://doaj.org/toc/2324-7096 | |
| 856 | 4 | 1 | |u https://doaj.org/article/82cbfb1b9ad8418a96aacb49c56cc27f |z Connect to this object online. |