{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T20:26:51Z","timestamp":1780345611034,"version":"3.54.1"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,2,24]],"date-time":"2012-02-24T00:00:00Z","timestamp":1330041600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2012,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital or familial erythrocytosis\/polycythemia can have many causes, and an emerging cause is genetic disruption of the oxygen\u2010sensing pathway that regulates the <jats:italic>Erythropoietin<\/jats:italic> (<jats:italic>EPO<\/jats:italic>) gene. More specifically, recent studies have identified erythrocytosis\u2010associated mutations in the <jats:italic>HIF2A<\/jats:italic> gene, which encodes for Hypoxia Inducible Factor\u20102\u03b1 (HIF\u20102\u03b1), as well as in two genes that encode for proteins that regulate it, Prolyl Hydroxylase Domain protein 2 (PHD2) and the von Hippel Lindau tumor suppressor protein (VHL). We report here the identification of two new heterozygous <jats:italic>HIF2A<\/jats:italic> missense mutations, M535T, and F540L, both associated with erythrocytosis. Met\u2010535 has previously been identified as a residue mutated in other patients with erythrocytosis; although, the mutation of this particular residue to Thr has not been reported. In contrast, Phe\u2010540 has not been reported as a residue mutated in erythrocytosis, and we present evidence here that this mutation impairs interaction of HIF\u20102\u03b1 with both VHL and PHD2. Am. J. Hematol. 2012. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajh.23123","type":"journal-article","created":{"date-parts":[[2012,1,19]],"date-time":"2012-01-19T14:23:37Z","timestamp":1326983017000},"page":"439-442","source":"Crossref","is-referenced-by-count":35,"title":["Two new mutations in the <i>HIF2A<\/i> gene associated with erythrocytosis"],"prefix":"10.1002","volume":"87","author":[{"given":"Melanie J.","family":"Percy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu Jin","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Harrison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Mercieca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. 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