Mutation of the von hippel-lindau gene alters human cardiopulmonary physiology

Advances in Experimental Medicine and Biology

Volumn 605, Issue , 2008, Pages 51-56

  Smith, T G ^a   Brooks, J T ^a   Balanos, G M ^b   Lappin, T R ^c   Layton, D M ^d   Leedham, D L ^e   Liu, C ^a   Maxwell, P H ^d   McMullin, M F ^c   McNamara, C J ^f   Percy, M J ^c   Pugh, C W ^g   Ratcliffe, P J ^g   Talbot, N P ^a   Treacy, M ^e   Robbins, P A ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^d IMPERIAL COLLEGE LONDON   (United Kingdom)

^e CHASE FARM HOSPITAL   (United Kingdom)

^f ROYAL FREE HOSPITAL   (United Kingdom)

^g UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXIA INDUCIBLE FACTOR; VON HIPPEL LINDAU PROTEIN; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; CARBON DIOXIDE;

ADULT; BREATHING; CARBON DIOXIDE BLOOD LEVEL; CARDIOPULMONARY FUNCTION; CARDIOVASCULAR RESPONSE; CHUVASH POLYCYTHEMIA; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; GENE; GENE MUTATION; HEART RATE; HUMAN; LUNG FUNCTION TEST; LUNG VASCULAR RESISTANCE; LUNG VASOCONSTRICTION; OXYGEN SUPPLY; POLYCYTHEMIA; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; SPIROMETRY; VON HIPPEL LINDAU GENE; ANOXIA; ARTICLE; BLOOD; FORCED EXPIRATORY VOLUME; GENETICS; HEART; HYPERCAPNIA; MUTATION; PATHOPHYSIOLOGY; REFERENCE VALUE; RESPIRATORY FUNCTION; VON HIPPEL LINDAU DISEASE;

ANOXIA; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CARBON DIOXIDE; FORCED EXPIRATORY VOLUME; HEART; HUMANS; HYPERCAPNIA; MUTATION; REFERENCE VALUES; RESPIRATORY FUNCTION TESTS; RESPIRATORY PHYSIOLOGY; VON HIPPEL-LINDAU DISEASE;

EID: 38449087793     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-0-387-73693-8_9     Document Type: Conference Paper

References (8)

1. Ang, S.O., Chen, H., Hirota, K., Gordeuk, V.R., Jelinek, J., Guan, Y., Liu, E., Sergueeva, A.I., Miasnikova, G.Y., Mole, D., Maxwell, P.H., Stockton, D.W., Semenza, G.L. and Prchal, J.T. (2002) Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat. Genet. 32, 614-621.
2. 2-regulated prolyl hydroxylation. Science 292, 468-472.
3. Maxwell, P.H., Wiesener, M.S., Chang, G.W., Clifford, S.C., Vaux, E.C., Cockman, M.E., Wykoff, C.C., Pugh, C.W., Maher, E.R. and Ratcliffe, P.J. (1999) The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 399, 271-275.
4. Robbins, P.A., Swanson, G.D. and Howson, M.G. (1982) A prediction-correction scheme for forcing alveolar gases along certain time courses. J. Appl. Physiol. 52, 1353-1357.
5. Rupert, J.L. and Hochachka, P.W. (2001) The evidence for hereditary factors contributing to high altitude adaptation in Andean natives: a review. High Alt. Med. Biol. 2(2), 235-256.
6. Schofield, C.J. and Ratcliffe, P.J. (2004) Oxygen sensing by HIF hydroxylases. Nat. Rev. Mol. Cell Biol. 5, 343-354.
7. Semenza, G.L. (2004) Hydroxylation of HIF-1: oxygen sensing at the molecular level. Physiology (Bethesda) 19, 176-182.
8. Smith, T.G., Brooks, J.T., Balanos, G.M., Lappin, T.R., Layton, D.M., Leedham, D.L., Liu, C., Maxwell, P.H., McMullin, M.F., McNamara, C.J., Percy, M.J., Pugh, C.W., Ratcliffe, P.J., Talbot, N.P., Treacy, M. and Robbins, P.A. (2006) Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology. PLoS Med. 3(7), e290.