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Article

<i>PHD2</i> Mutation and Congenital Erythrocytosis with Paraganglioma

17 Dec 2008

Abstract excerpt

Prolyl hydroxylase domain (PHD) proteins play a major role in regulating the hypoxia-inducible factor (HIF) that induces expression of genes involved in angiogenesis, erythropoiesis, and cell metabolism, proliferation, and survival. Germ-line mutations in the prolyl hydroxylase domain 2 gene (PHD2) have been reported in patients with familial erythrocytosis but not in association with tumors. We describe a...

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Identifiers

PMID: 19092153
DOI: 10.1056/nejmoa0806277

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Related research

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<i>PHD2</i> Mutation and Congenital Erythrocytosis with ParagangliomaPMID 19092153Read ↗

The role of PHD2 mutations in the pathogenesis of erythrocytosisSemantic proximity Read ↗

Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) geneSemantic proximity Read ↗

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A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.Semantic proximity Read ↗

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosisSemantic proximity Read ↗

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A Knock-in Mouse Model of Human PHD2 Gene-associated Erythrocytosis Establishes a Haploinsufficiency MechanismSemantic proximity Read ↗

HIF pathway mutations and erythrocytosis.Semantic proximity Read ↗

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Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemiaSemantic proximity Read ↗

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