{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T06:23:12Z","timestamp":1791181392398,"version":"4.1.0"},"reference-count":25,"publisher":"American Society of Hematology","issue":"8","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2002,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Primary familial erythrocytosis (familial polycythemia) is a rare myeloproliferative disorder with an autosomal dominant mode of inheritance. We studied a new kindred with autosomal dominantly inherited familial erythrocytosis. The molecular basis for the observed phenotype of isolated erythrocytosis is heterozygosity for a novel nonsense mutation affecting codon 399 in exon 8 of the erythropoietin receptor (EPOR) gene, encoding an EpoR peptide that is truncated by 110 amino acids at its C-terminus. The newEPOR gene mutation 5881G&amp;gt;T was found to segregate with isolated erythrocytosis in the affected family and this mutation represents the most extensive EpoR truncation reported to date, associated with familial erythrocytosis. Erythroid progenitors from an affected individual displayed Epo hypersensitivity in in vitro methylcellulose cultures, as indicated by more numerous erythroid burst-forming unit-derived colonies in low Epo concentrations compared to normal controls. Expression of mutant EpoR in interleukin 3\u2013dependent hematopoietic cells was associated with Epo hyperresponsiveness compared to cells expressing wild-type EpoR.<\/jats:p>","DOI":"10.1182\/blood.v99.8.3066","type":"journal-article","created":{"date-parts":[[2002,10,11]],"date-time":"2002-10-11T14:33:52Z","timestamp":1034346832000},"page":"3066-3069","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":34,"title":["A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis"],"prefix":"10.1182","volume":"99","author":[{"given":"Murat O.","family":"Arcasoy","sequence":"first","affiliation":[{"name":"From the Department of Medicine, Duke University Medical Center, Durham, NC; Cancer Care of Maine, Bangor; and Department of Internal Medicine, Yale University School of Medicine, New Haven, CT."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aysen F.","family":"Karayal","sequence":"additional","affiliation":[{"name":"From the Department of Medicine, Duke University Medical Center, Durham, NC; Cancer Care of Maine, Bangor; and Department of Internal Medicine, Yale University School of Medicine, New Haven, CT."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harvey M.","family":"Segal","sequence":"additional","affiliation":[{"name":"From the Department of Medicine, Duke University Medical Center, Durham, NC; Cancer Care of Maine, Bangor; and Department of Internal Medicine, Yale University School of Medicine, New Haven, CT."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G.","family":"Sinning","sequence":"additional","affiliation":[{"name":"From the Department of Medicine, Duke University Medical Center, Durham, NC; Cancer Care of Maine, Bangor; and Department of Internal Medicine, Yale University School of Medicine, New Haven, CT."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard G.","family":"Forget","sequence":"additional","affiliation":[{"name":"From the Department of Medicine, Duke University Medical Center, Durham, NC; Cancer Care of Maine, Bangor; and Department of Internal Medicine, Yale University School of Medicine, New Haven, CT."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2020021219045348300_B1","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1111\/j.1600-0609.1996.tb01376.x","article-title":"\u201cBenign erythrocytosis\u201d and other familial and congenital polycythemias.","volume":"57","author":"Prchal","year":"1996","journal-title":"Eur J Haematol."},{"key":"2020021219045348300_B2","first-page":"38","article-title":"Familial polycythemia due to truncations of the erythropoietin receptor.","volume":"111","author":"Forget","year":"2000","journal-title":"Trans Am Clin Climatol 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