{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Divoky V"],"funding":["NCI NIH HHS","European Commission","Czech Science Foundation","VAH Merit Review Award"],"pagination":["597-608"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5083035"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["94(5)"],"pubmed_abstract":["<h4>Unlabelled</h4>Mutations of the truncated cytoplasmic domain of human erythropoietin receptor (EPOR) result in gain-of-function of erythropoietin (EPO) signaling and a dominantly inherited polycythemia, primary familial and congenital polycythemia (PFCP). We interrogated the unexplained transient absence of perinatal polycythemia observed in PFCP patients using an animal model of PFCP to examine its erythropoiesis during embryonic, perinatal, and early postnatal periods. In this model, we replaced the murine EpoR gene (mEpoR) with the wild-type human EPOR (wtHEPOR) or mutant human EPOR gene (mtHEPOR) and previously reported that the gain-of-function mtHEPOR mice become polycythemic at 3~6 weeks of age, but not at birth, similar to the phenotype of PFCP patients. In contrast, wtHEPOR mi"],"journal":["Journal of molecular medicine (Berlin, Germany)"],"pubmed_title":["Delayed hemoglobin switching and perinatal neocytolysis in mice with gain-of-function erythropoietin receptor."],"pmcid":["PMC5083035"],"funding_grant_id":["CZ.1.07/2.3.00/20.0164","P01 CA108671","GA15-13732S"],"pubmed_authors":["Horvathova M","Yoon D","Kralova B","Divoky V","Prchal JT","Song J","Votavova H"],"additional_accession":[]},"is_claimable":false,"name":"Delayed hemoglobin switching and perinatal neocytolysis in mice with gain-of-function erythropoietin receptor.","description":"<h4>Unlabelled</h4>Mutations of the truncated cytoplasmic domain of human erythropoietin receptor (EPOR) result in gain-of-function of erythropoietin (EPO) signaling and a dominantly inherited polycythemia, primary familial and congenital polycythemia (PFCP). We interrogated the unexplained transient absence of perinatal polycythemia observed in PFCP patients using an animal model of PFCP to examine its erythropoiesis during embryonic, perinatal, and early postnatal periods. In this model, we replaced the murine EpoR gene (mEpoR) with the wild-type human EPOR (wtHEPOR) or mutant human EPOR gene (mtHEPOR) and previously reported that the gain-of-function mtHEPOR mice become polycythemic at 3~6 weeks of age, but not at birth, similar to the phenotype of PFCP patients. In contrast, wtHEPOR mi","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 May","modification":"2025-04-04T00:21:32.234Z","creation":"2019-03-27T02:27:41Z"},"accession":"S-EPMC5083035","cross_references":{"pubmed":["26706855"],"doi":["10.1007/s00109-015-1375-y"]}}