Oxygen Sensing: Recent Insights from Idiopathic Erythrocytosis
نویسندگان
چکیده
منابع مشابه
Investigation of Genetic Disturbances in Oxygen Sensing and Erythropoietin Signaling Pathways in Cases of Idiopathic Erythrocytosis
Background. Idiopathic erythrocytosis is the term reserved for cases with unexplained origins of abnormally increased hemoglobin after initial investigation. Extensive molecular investigation of genes associated with oxygen sensing and erythropoietin signaling pathways, in those cases, usually involves sequencing all of their exons and it may be time consuming. Aim. To perform a strategy for mo...
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Erythrocytosis results when there is an increased red cell mass and thus an increased hemoglobin. The causes can be divided into primary intrinsic defects of the erythroid progenitor cell and secondary defects, where factors external to the erythroid compartment are responsible. Both can then be further divided into congenital and acquired categories. Congenital causes include mutations of the ...
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Idiopathic erythrocytosis (IE) is characterized by an increase of red blood cell mass without an identified cause. Its diagnosis is based on the exclusion of polycythemia vera (PV), secondary acquired polycythemias and various congenital primary and secondary polycythemias. The frequency of IE has been estimated to be 1.1 per 1000 subjects, which is higher than that observed in PV. Heterogeneou...
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A mutation of HIF-2 alpha has been detected in three generations of a family with erythrocytosis and the mutation co-segregated with the erythrocytosis phenotype. Functional studies revealed that Gly537Trp mutation would significantly impair the function of HIF-2 alpha thus leading to increased synthesis of Epo. In addition to VHL and PHD2 a further member of the oxygen sensing pathway, namely ...
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ژورنال
عنوان ژورنال: Cell Cycle
سال: 2006
ISSN: 1538-4101,1551-4005
DOI: 10.4161/cc.5.9.2723