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The von Hippel-Lindau Chuvash mutation in mice causes carotid-body hyperplasia and enhanced ventilatory sensitivity to hypoxia.

Abstract:

The hypoxia-inducible factor (HIF) family of transcription factors coordinates diverse cellular and systemic responses to hypoxia. Chuvash polycythemia (CP) is an autosomal recessive disorder in humans in which there is impaired oxygen-dependent degradation of HIF, resulting in long-term systemic elevation of HIF levels at normal oxygen tensions. CP patients demonstrate the characteristic features of ventilatory acclimatization to hypoxia, namely, an elevated baseline ventilation and enhanced...

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Publication status:
Published

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Authors


Slingo, ME More by this author
Turner, PJ More by this author
Christian, HC More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Publisher:
American Physiological Society
Journal:
Journal of applied physiology (Bethesda, Md. : 1985)
Volume:
116
Issue:
7
Pages:
885-892
Publication date:
2014-04-05
DOI:
EISSN:
1522-1601
ISSN:
8750-7587
URN:
uuid:346d01ff-376d-4384-838f-7828776a77a0
Source identifiers:
428085
Local pid:
pubs:428085

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