Article
The von Hippel-Lindau Chuvash mutation promotes pulmonary hypertension and fibrosis in mice.
The Journal of clinical investigation - 1 Mar 2010
Hickey Michele M, Richardson Theresa, Wang Tao, Mosqueira Matias, Arguiri Evguenia, Yu Hongwei, Yu Qian-Chun, Solomides Charalambos C, Morrisey Edward E, Khurana Tejvir S, Christofidou-Solomidou Melpo, Simon M Celeste
Abstract excerpt
Mutation of the von Hippel-Lindau (VHL) tumor suppressor protein at codon 200 (R200W) is associated with a disease known as Chuvash polycythemia. In addition to polycythemia, Chuvash patients have pulmonary hypertension and increased respiratory rates, although the pathophysiological basis of these symptoms is unclear. Here we sought to address this issue by studying mice homozygous for the R200W Vhl mutation...
Topics
- Animals
- Basic Helix-Loop-Helix Transcription Factors
- Codon
- Disease Models, Animal
- Hemorrhage
- Heterozygote
- Homozygote
- Humans
- Hypertension, Pulmonary
- Hypoxia-Inducible Factor 1, alpha Subunit