{"doi":"10.1177/2324709620947256","title":"Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the <i>EGLN1</i> 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.","journal":"Journal of Investigative Medicine High Impact Case Reports","year":2020,"id":112457,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9586,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":263496,"name":"Maimon E. Hubbi","orcid":"0000-0001-9763-287X","position":1,"is_corresponding":false},{"id":531965,"name":"Chenliang Wang","orcid":"0000-0003-4388-681X","position":2,"is_corresponding":false},{"id":74844,"name":"Yingfei Wang","orcid":"0000-0002-8723-252X","position":3,"is_corresponding":false},{"id":266671,"name":"Weibo Luo","orcid":"0000-0002-1992-0320","position":4,"is_corresponding":false},{"id":531966,"name":"Sandra L. Hofmann","orcid":"0000-0002-1588-8159","position":5,"is_corresponding":false},{"id":532866,"name":"Siayareh Rambally","orcid":null,"position":6,"is_corresponding":false},{"id":396879,"name":"Joseph A. Moore","orcid":"0000-0002-8127-9060","position":0,"is_corresponding":true}],"reference_count":14,"raw_metadata":null,"created_at":"2026-07-18T23:13:13.874980Z","pmid":"32755251","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}