Article
Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jun 2011
Formenti Federico, Beer Philip A, Croft Quentin P P, Dorrington Keith L, Gale Daniel P, Lappin Terence R J, Lucas Guy S, Maher Eamonn R, Maxwell Patrick H, McMullin Mary F, O'Connor David F, Percy Melanie J, Pugh Christopher W, Ratcliffe Peter J, Smith Thomas G, Talbot Nick P, Robbins Peter A
Abstract excerpt
The hypoxia-inducible factors (HIFs; isoforms HIF-1α, HIF-2α, HIF-3α) mediate many responses to hypoxia. Their regulation is principally by oxygen-dependent degradation, which is initiated by hydroxylation of specific proline residues followed by binding of von Hippel-Lindau (VHL) protein. Chuvash polycythemia is a disorder with elevated HIF. It arises through germline homozygosity for hypomorphic VHL alleles and...
Topics
- Basic Helix-Loop-Helix Transcription Factors
- Carbon Dioxide
- Cardiovascular Physiological Phenomena
- Case-Control Studies
- Exercise Test
- Female
- Gene Expression Regulation