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Article

Mutations in the VHL gene in sporadic apparently congenital polycythemia.

Blood - 15 Feb 2003

Pastore Yves D, Jelinek Jaroslav, Ang Sonny, Guan Yongli, Liu Enli, Jedlickova Katerina, Krishnamurti Lakshmanan, Prchal Josef T

Abstract excerpt

The congenital polycythemic disorders with elevated erythropoietin (Epo) have been until recently an enigma, and abnormality in the hypoxia-sensing pathway has been hypothesized as a possible mechanism. The tumor suppressor von Hippel-Lindau (VHL) participates in the hypoxia-sensing pathway, as it binds to the proline-hydroxylated form of the hypoxia-inducible factor 1alpha (HIF-1alpha) and mediates its...

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Identifiers

PMID: 12393546
DOI: 10.1182/blood-2002-06-1843

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutations in the VHL gene in sporadic apparently congenital polycythemia.PMID 12393546Read ↗

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Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.Semantic proximity Read ↗

The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.Semantic proximity Read ↗

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.Semantic proximity Read ↗

von Hippel–Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2α signaling and splenic erythropoiesisSemantic proximity Read ↗

The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).Semantic proximity Read ↗

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