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Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2α gain-of-function mutation.

Abstract:

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 has a phenotype of hematological, cardiopulmonary, and metabolic abnormalities. ...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1096/fj.10-177378

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
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Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
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Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
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Funding agency for:
Formenti, F
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Funding agency for:
Dorrington, KL
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Funding agency for:
Robbins, PA
National Institute for Health Research Biomedical Research Centre Programme More from this funder
Publisher:
Federation of American Societies for Experimental Biology Publisher's website
Journal:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology Journal website
Volume:
25
Issue:
6
Pages:
2001-2011
Publication date:
2011-06-05
DOI:
EISSN:
1530-6860
ISSN:
0892-6638
URN:
uuid:138a5fd6-4a5d-49ab-aa74-a5157af5f0c3
Source identifiers:
124343
Local pid:
pubs:124343

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