Journal article
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:
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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
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Bibliographic Details
- Publisher:
- Federation of American Societies for Experimental Biology
- Journal:
- FASEB journal : official publication of the Federation of American Societies for Experimental Biology More from this journal
- Volume:
- 25
- Issue:
- 6
- Pages:
- 2001-2011
- Publication date:
- 2011-06-01
- DOI:
- EISSN:
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1530-6860
- ISSN:
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0892-6638
Item Description
- Language:
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English
- Keywords:
- Pubs id:
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pubs:124343
- UUID:
-
uuid:138a5fd6-4a5d-49ab-aa74-a5157af5f0c3
- Local pid:
-
pubs:124343
- Source identifiers:
-
124343
- Deposit date:
-
2012-12-19
Terms of use
- Copyright holder:
- Federico Formenti et al
- Copyright date:
- 2011
- Notes:
- © Federico Formenti et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/us/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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