Article
Delayed hemoglobin switching and perinatal neocytolysis in mice with gain-of-function erythropoietin receptor.
Journal of molecular medicine (Berlin, Germany) - 1 May 2016
Divoky Vladimir, Song Jihyun, Horvathova Monika, Kralova Barbora, Votavova Hana, Prchal Josef T, Yoon Donghoon
Abstract excerpt
UNLABELLED: 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...
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