@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. Funding Information: We would like to thank our colleagues at both the University of Texas Southwestern and Mayo Clinic for their insight and expertise as well as the staff, staff support, and our patients for providing us with the support and permission to author this article. 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. Publisher Copyright: {\textcopyright} 2020 American Federation for Medical 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",
}