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Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology

Abstract:

Background: The von Hippel–Lindau tumour suppressor protein–hypoxia-inducible factor (VHL–HIF)pathway has attracted widespread medical interest as a transcriptional system controlling cellular responses to hypoxia, yet insights into its role in systemic human physiology remain limited. Chuvash polycythaemia has recently been defined as a new form of VHL-associated disease, distinct from the classical VHL-associated inherited cancer syndrome, in which germline homozygosity for a hypomorphic VH...

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

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Publisher copy:
10.1371/journal.pmed.0030290

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Institution:
University of Oxford
Department:
Medical Sciences Division - Physiology,Anatomy and Genetics,Department of
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Institution:
University of Oxford
Department:
Medical Sciences Division - Physiology,Anatomy and Genetics,Department of
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Institution:
University of Birmingham
Department:
School of Sport and Exercise Sciences
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Institution:
"Queen's University, Belfast"
Department:
Centre for Cancer Research and Cell Biology
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Institution:
"Imperial College of Science, Technology, and Medicine"
Department:
Department of Haematology
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Contributors

Institution:
"National Heart and Lung Institute"
Role:
Editor
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Funding agency for:
Thomas G. Smith
Wellcome Trust More from this funder
Publisher:
Public Library of Science Publisher's website
Journal:
PLoS Medicine Journal website
Volume:
3
Issue:
7
Pages:
1178 - 1186 (e290)
DOI:
EISSN:
1549-1676
ISSN:
1549-1277
URN:
uuid:9d39e0ef-226f-49d9-bd68-8eb8f212d1ef
Local pid:
ora:969
Language:
English
Subjects:

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