Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension

Blood. 2011 Mar 31;117(13):3699-701. doi: 10.1182/blood-2010-12-327569.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • DNA Mutational Analysis
  • Familial Primary Pulmonary Hypertension
  • Humans
  • Hypertension, Pulmonary / complications
  • Hypertension, Pulmonary / genetics
  • Hypoxia-Inducible Factor 1 / metabolism*
  • Hypoxia-Inducible Factor 1 / physiology
  • Infant
  • Male
  • Mutation* / physiology
  • Polycythemia / complications
  • Polycythemia / genetics*
  • Severity of Illness Index
  • Signal Transduction / genetics
  • Signal Transduction / physiology
  • Von Hippel-Lindau Tumor Suppressor Protein / genetics*
  • Von Hippel-Lindau Tumor Suppressor Protein / physiology

Substances

  • Hypoxia-Inducible Factor 1
  • Von Hippel-Lindau Tumor Suppressor Protein
  • VHL protein, human