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Article

The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Genes - 17 Feb 2022

Hudler Petra, Urbancic Mojca

Abstract excerpt

Von Hippel-Lindau disease (VHL disease or VHL syndrome) is a familial multisystem neoplastic syndrome stemming from germline disease-associated variants of the VHL tumor suppressor gene on chromosome 3. VHL is involved, through the EPO-VHL-HIF signaling axis, in oxygen sensing and adaptive response to hypoxia, as well as in numerous HIF-independent pathways. The diverse roles of VHL confirm its implication in...

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Identifiers

PMID: 35205407
DOI: 10.3390/genes13020362
PMCID: PMC8871608

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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