Heritable disorders of oxygen sensing

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)2576-2581
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number8
StatePublished - Aug 2021


  • clear cell renal cell carcinoma
  • congenital polycythemia
  • hereditary erythrocytosis
  • pulmonary hypertension
  • von Hippel-Lindau syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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