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Article

Cardiopulmonary phenotype associated with human PHD2 mutation.

Physiological reports - 1 Apr 2017

Talbot Nick P, Smith Thomas G, Balanos George M, Dorrington Keith L, Maxwell Patrick H, Robbins Peter A

Abstract excerpt

Oxygen-dependent regulation of the erythropoietin gene is mediated by the hypoxia-inducible factor (HIF) family of transcription factors. When oxygen is plentiful, HIF undergoes hydroxylation by a family of oxygen-dependent prolyl hydroxylase domain (PHD) proteins, promoting its association with the von Hippel-Lindau (VHL) ubiquitin E3 ligase and subsequent proteosomal degradation. When oxygen is scarce, the PHD...

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Source

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Identifiers

PMID: 28400504
DOI: 10.14814/phy2.13224
PMCID: PMC5392514

Genes

VHL

Provenance

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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