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Article

Heritable disorders of oxygen sensing.

American journal of medical genetics. Part A - 1 Aug 2021

Semenza Gregg L

Abstract excerpt

Hypoxia-inducible factors (HIFs) activate gene transcription in response to reduced O2 availability and play critical roles in development, physiology, and disease pathogenesis. Mutations that dysregulate HIF activity are the genetic basis for tumor predisposition in the von Hippel-Lindau syndrome and excess red blood cell production in hereditary erythrocytosis.

Topics

Biomarkers
Diagnosis, Differential
Genetic Association Studies
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Humans
Hypoxia-Inducible Factor 1, alpha Subunit
Oxygen
Phenotype
Polycythemia
Signal Transduction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

von Hippel-Lindau Disease

Source

Identifiers

PMID: 33973706
DOI: 10.1002/ajmg.a.62250

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

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