{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:04Z","timestamp":1747146124717,"version":"3.40.5"},"reference-count":54,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T00:00:00Z","timestamp":1620691200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hypoxia\u2010inducible factors (HIFs) activate gene transcription in response to reduced O<jats:sub>2<\/jats:sub> availability and play critical roles in development, physiology, and disease pathogenesis. Mutations that dysregulate HIF activity are the genetic basis for tumor predisposition in the von Hippel\u2013Lindau syndrome and excess red blood cell production in hereditary erythrocytosis.<\/jats:p>","DOI":"10.1002\/ajmg.a.62250","type":"journal-article","created":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T16:33:37Z","timestamp":1620750817000},"page":"2576-2581","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Heritable disorders of oxygen sensing"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0913-211X","authenticated-orcid":false,"given":"Gregg L.","family":"Semenza","sequence":"first","affiliation":[{"name":"McKusick\u2010Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine  Maryland Baltimore USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,11]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1019"},{"key":"e_1_2_13_3_1","first-page":"32253","article-title":"An essential role for p300\/CBP in the cellular response to hypoxia","volume":"271","author":"Arany Z.","year":"1996","journal-title":"Proceedings National Academy of Sciences United States of America"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1903510116"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01857930"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1066373"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1901713"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1813599"},{"key":"e_1_2_13_9_1","first-page":"141","article-title":"Intra\u2010ocular growths (two cases, brother and sister, with peculiar vascular new growth, probably primarily retinal, affecting both eyes)","volume":"14","author":"Collins E. T.","year":"1894","journal-title":"Transactions of the Ophthalmological Societies of the United Kingdom"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2017.74.2627"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-19-1459"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-14-1161"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(89)90965-3"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI137552"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.10.4495"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00507-4"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.10-177378"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-11-1745"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-12-3983"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-04-153718"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2018.210732"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1059817"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1059796"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/313806a0"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.30.17771"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.1996.271.4.C1172"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2008.04.009"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0806277"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.991402"},{"key":"e_1_2_13_30_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.82.22.7580"},{"key":"e_1_2_13_31_1","first-page":"1","article-title":"Studien ber kleinbirncysten bau. Pathogenese und beziehungen zur angiomatosis retinae","volume":"1","author":"Lindau A.","year":"1926","journal-title":"Acta pathologica et microbiologica Scandinavica"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.924501"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/20.18.5197"},{"key":"e_1_2_13_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/20459"},{"key":"e_1_2_13_35_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-02-137703"},{"key":"e_1_2_13_36_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-04-084434"},{"key":"e_1_2_13_37_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa073123"},{"key":"e_1_2_13_38_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0508423103"},{"key":"e_1_2_13_39_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.36.22642"},{"key":"e_1_2_13_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.25056"},{"key":"e_1_2_13_41_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-15-1859"},{"key":"e_1_2_13_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.01.021"},{"key":"e_1_2_13_43_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-pharmtox-010818-021637"},{"key":"e_1_2_13_44_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.51.32529"},{"key":"e_1_2_13_45_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.12.12.5447"},{"key":"e_1_2_13_46_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V89.6.2148"},{"key":"e_1_2_13_47_1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-11-0098"},{"key":"e_1_2_13_48_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.0030290"},{"key":"e_1_2_13_49_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V86.1.15.bloodjournal86115"},{"key":"e_1_2_13_50_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01994821"},{"key":"e_1_2_13_51_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-16-0473"},{"key":"e_1_2_13_52_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.12.5510"},{"key":"e_1_2_13_53_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.3.1230"},{"key":"e_1_2_13_54_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.181341498"},{"key":"e_1_2_13_55_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1709064"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62250","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62250","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62250","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T08:40:40Z","timestamp":1693212040000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62250"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,11]]},"references-count":54,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/ajmg.a.62250"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62250","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2021,5,11]]},"assertion":[{"value":"2021-02-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}