Article
Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.
Blood - 15 May 2004
Gordeuk Victor R, Sergueeva Adelina I, Miasnikova Galina Y, Okhotin Daniel, Voloshin Yaroslav, Choyke Peter L, Butman John A, Jedlickova Katerina, Prchal Josef T, Polyakova Lydia A
Abstract excerpt
Adaptation to hypoxia is critical for survival and regulates multiple processes, including erythropoiesis and vasculogenesis. Chuvash polycythemia is a hypoxia-sensing disorder characterized by homozygous mutation (598C>T) of von Hippel-Lindau gene (VHL), a negative regulator of hypoxia sensing. Although endemic to the Chuvash population of Russia, this mutation occurs worldwide and originates from a single...
Topics
- Adaptation, Physiological
- Adolescent
- Adult
- Child
- Cross-Sectional Studies
- Female
- Homozygote
- Humans
- Hypoxia
- Hypoxia-Inducible Factor 1, alpha Subunit