@article{87335ad832944be4b9943ed7f2858f3a,
title = "Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the EGLN1 Gene",
abstract = "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.",
keywords = "EGLN1, HIF-1, PHD2, erythrocytosis, polycythemia",
author = "Moore, {Joseph A.} and Hubbi, {Maimon E.} and Chenliang Wang and Yingfei Wang and Weibo Luo and Sandra Hofmann and Siayareh Rambally",
note = "Funding Information: The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: YW is partially supported by grants from the National Institute of Health (NIH; R00NS078049 and R35GM124693). WL is partially supported by grants from the NIH (R00CA168746) and the Cancer Prevention and Research Institute of Texas (CPRIT; RR140036), and is a CPRIT Scholar in Cancer Research. ",
year = "2020",
doi = "10.1177/2324709620947256",
language = "English (US)",
volume = "8",
journal = "Journal of Investigative Medicine High Impact Case Reports",
issn = "2324-7096",
publisher = "Sage Publications",
}