{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T19:59:01Z","timestamp":1774987141061,"version":"3.50.1"},"reference-count":65,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,8,23]],"date-time":"2019-08-23T00:00:00Z","timestamp":1566518400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004329","name":"Javna Agencija za Raziskovalno Dejavnost RS","doi-asserted-by":"publisher","award":["L3\u20109279"],"award-info":[{"award-number":["L3\u20109279"]}],"id":[{"id":"10.13039\/501100004329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004329","name":"Javna Agencija za Raziskovalno Dejavnost RS","doi-asserted-by":"publisher","award":["P1\u20100390"],"award-info":[{"award-number":["P1\u20100390"]}],"id":[{"id":"10.13039\/501100004329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004329","name":"Javna Agencija za Raziskovalno Dejavnost RS","doi-asserted-by":"publisher","award":["P4\u20100220"],"award-info":[{"award-number":["P4\u20100220"]}],"id":[{"id":"10.13039\/501100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Familial erythrocytosis (FE) is a congenital disorder, defined by elevated red blood cell number, hemoglobin, and hematocrit. Among eight types of FE, type 4 is caused by variants in the <jats:italic>EPAS1<\/jats:italic> gene. Two other hypoxia\u2010inducible factor alpha (HIFA) subunits, HIF1A and HIF3A, have not yet been associated with medical history of FE, but have potential role in the development of erythrocytosis. To improve diagnosis, it is crucial to identify new variants in genes involved in erythrocyte production. Published literature and data from genome browsers were used to obtain <jats:italic>HIFA<\/jats:italic> sequence variants associated with erythrocytosis and to locate them on protein sequence and regulatory sites. We retrieved 24 variants from the literature: 2 in <jats:italic>HIF1A<\/jats:italic>, 20 in <jats:italic>EPAS1<\/jats:italic> and 2 in <jats:italic>HIF3A<\/jats:italic> gene. Sixteen out of 20 variants in the <jats:italic>EPAS1<\/jats:italic> gene are positioned in a conserved region of 13 amino acids within exon 12, next to regulatory post\u2010translational modification and binding sites, suggesting that EPAS1 has an important role in erythropoiesis. The role of HIF1A and HIF3A in the development of erythrocytosis should be further investigated.<\/jats:p>","DOI":"10.1111\/ejh.13304","type":"journal-article","created":{"date-parts":[[2019,8,3]],"date-time":"2019-08-03T06:49:37Z","timestamp":1564814977000},"page":"287-299","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Genetic variability of hypoxia\u2010inducible factor alpha (<i>HIFA<\/i>) genes in familial erythrocytosis: Analysis of the literature and genome databases"],"prefix":"10.1111","volume":"103","author":[{"given":"Ale\u0161a","family":"Kristan","sequence":"first","affiliation":[{"name":"Medical Centre for Molecular Biology, Faculty of Medicine, Institute of Biochemistry University of Ljubljana Ljubljana Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1294-292X","authenticated-orcid":false,"given":"Nata\u0161a","family":"Debeljak","sequence":"additional","affiliation":[{"name":"Medical Centre for Molecular Biology, Faculty of Medicine, Institute of Biochemistry University of Ljubljana Ljubljana Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0465-1762","authenticated-orcid":false,"given":"Tanja","family":"Kunej","sequence":"additional","affiliation":[{"name":"Department of Animal Science, Biotechnical Faculty University of Ljubljana Dom\u017eale Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,8,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-pathol-011110-130321"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-05-189985"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.12949"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2012.12.003"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0179545"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.3109\/10409238.2013.838205"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00315.2015"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2015.3689"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa073123"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13277-016-5331-4"},{"issue":"1","key":"e_1_2_7_12_1","first-page":"81","article-title":"Molecular characterization and expression analysis of three hypoxia\u2010inducible factor alpha subunits, HIF\u20101\u03b1\/2\u03b1\/3\u03b1 of the hypoxia\u2010sensitive freshwater species","volume":"498","author":"Chen N","year":"2012","journal-title":"Chinese sucker. Gene"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.02.011"},{"key":"e_1_2_7_14_1","first-page":"1","article-title":"(ODD) domain of hypoxia inducible factor\u20101\u03b1 (HIF\u20101\u03b1) does not impair Pro\u2010564 hydroxylation","volume":"7","author":"Percy MJ","year":"2003","journal-title":"Mol Cancer"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.12170"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.12506"},{"key":"e_1_2_7_17_1","first-page":"1","article-title":"Knowledgebase of human genes and genetic phenotypes","volume":"58","author":"Amberger JS","year":"2018","journal-title":"Curr Protoc Bioinforma"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22448"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.24.9361-9374.2003"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.12.12.5447"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M602329200"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000078635.89229.8A"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI5912"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-05-1695"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0608382104"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2018.05.004"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-02-270322"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI30117"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.04-1640fje"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.19.8725"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-09-114561"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-01-478065"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1189406"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/molbev\/msq290"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1190371"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.21420"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2012.04.004"},{"issue":"4","key":"e_1_2_7_38_1","first-page":"818","article-title":"Down\u2010regulation of EPAS1 transcription and genetic adaptation of Tibetans to high\u2010altitude hypoxia","volume":"34","author":"Peng Y","year":"2017","journal-title":"Mol Biol Evol"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1124\/mol.106.027029"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI31370"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-07-2958"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-011-0679-5"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1069"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1098"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22981"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21438"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1099"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgg132"},{"issue":"4","key":"e_1_2_7_49_1","first-page":"553","article-title":"Hypoxia\u2010inducible factor\u20101\u03b1Pro\u2010582\u2010Ser polymorphism prevents iron deprivation in healthy blood donors","volume":"11","author":"Torti L","year":"2013","journal-title":"Blood Transfus"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-02-137703"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-04-153718"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.13241"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2016.144063"},{"key":"e_1_2_7_54_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2013.088369"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M808737200"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.25150"},{"key":"e_1_2_7_57_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.23123"},{"key":"e_1_2_7_58_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.13210"},{"key":"e_1_2_7_59_1","doi-asserted-by":"publisher","DOI":"10.1080\/10245332.2016.1192394"},{"key":"e_1_2_7_60_1","doi-asserted-by":"publisher","DOI":"10.1080\/15384047.2017.1394553"},{"key":"e_1_2_7_61_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.017582"},{"key":"e_1_2_7_62_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-012-0967-z"},{"key":"e_1_2_7_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2008.04.003"},{"key":"e_1_2_7_64_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1073440"},{"key":"e_1_2_7_65_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e06-05-0419"},{"key":"e_1_2_7_66_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22449"}],"container-title":["European Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ejh.13304","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ejh.13304","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ejh.13304","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T06:06:28Z","timestamp":1693548388000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ejh.13304"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,23]]},"references-count":65,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,10]]}},"alternative-id":["10.1111\/ejh.13304"],"URL":"https:\/\/doi.org\/10.1111\/ejh.13304","archive":["Portico"],"relation":{},"ISSN":["0902-4441","1600-0609"],"issn-type":[{"value":"0902-4441","type":"print"},{"value":"1600-0609","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,23]]},"assertion":[{"value":"2019-06-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-08-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}