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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...

Topics

Adult
Blood Pressure
Cardiac Output
Echocardiography, Doppler
Forced Expiratory Volume
Heart Rate
Humans
Hypoxia
Hypoxia-Inducible Factor-Proline Dioxygenases
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Polycythemia

Spirometry

Source

Open in PubMed Open full text

Identifiers

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

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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