Mutation of the von Hippel-Lindau gene alters human cardiopulmonary physiology.

@article{Smith2008MutationOT,
  title={Mutation of the von Hippel-Lindau gene alters human cardiopulmonary physiology.},
  author={Thomas G Smith and Jerome Tremblay Brooks and George Balanos and Terence R J Lappin and David Mark Layton and Dawn L Leedham and Chaomei Liu and Patrick Henry Maxwell and Mary Frances McMullin and Christopher J McNamara and Melanie J. Percy and Christopher W Pugh and Peter J Ratcliffe and Nick P Talbot and Marilyn Treacy and Peter A. Robbins},
  journal={Advances in experimental medicine and biology},
  year={2008},
  volume={605},
  pages={
          51-6
        }
}
Intracellular responses to hypoxia are coordinated by the von Hippel-Lindau--hypoxia-inducible factor (VHL-HIF) transcriptional system. This study investigated the potential role of the VHL-HIF pathway in human systems-level physiology. Patients diagnosed with Chuvash polycythaemia, a rare disorder in which VHL signalling is specifically impaired, were studied during acute hypoxia and hypercapnia. Subjects breathed through a mouthpiece and ventilation was measured while pulmonary vascular tone… CONTINUE READING

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