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Article

Advances in understanding the pathogenesis of primary familial and congenital polycythaemia.

British journal of haematology - 1 Mar 2010

Huang Lily J, Shen Yu-Min, Bulut Gamze B

Abstract excerpt

Primary familial and congenital polycythemia (PFCP) is an autosomal-dominant proliferative disorder characterized by erythrocytosis and hypersensitivity of erythroid progenitors to erythropoietin (Epo). Several lines of evidence suggest a causal role of truncated erythropoietin receptor (EpoR) in this disease. In this review, we discuss PFCP in the context of erythrocytosis and EpoR signalling. We focus on recent...

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Identifiers

PMID: 20096014
DOI: 10.1111/j.1365-2141.2009.08069.x
PMCID: PMC2864346

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Advances in understanding the pathogenesis of primary familial and congenital polycythaemia.PMID 20096014Read ↗

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Cbl ubiquitination of p85 is essential for Epo-induced EpoR endocytosis.Semantic proximity Read ↗

Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.Semantic proximity Read ↗

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