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

Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension.

Wang, G. L., Jiang, B. H., Rue, E. A., & Semenza, G. L. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.12.5510 · Cited by 6,212 · see citing works

Targeting of HIF-α to the von Hippel-Lindau Ubiquitylation Complex by O ₂ -Regulated Prolyl Hydroxylation

Jaakkola, P., Mole, D. R., Tian, Y.-M., Wilson, M. I., Gielbert, J., Gaskell, S. J., Kriegsheim, A. V., Hebestreit, H. F., Mukherji, M., Schofield, C. J., et al. (2001) · Science · doi:10.1126/science.1059796 · Cited by 5,535 · see citing works

The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

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., & Ratcliffe, P. J. (1999) · Nature · doi:10.1038/20459 · Cited by 5,180 · see citing works

HIFα Targeted for VHL-Mediated Destruction by Proline Hydroxylation: Implications for O ₂ Sensing

Ivan, M., Kondo, K., Yang, H., Kim, W., Valiando, J., Ohh, M., Salic, A., Asara, J. M., Lane, W. S., & Kaelin Jr., W. G. (2001) · Science · doi:10.1126/science.1059817 · Cited by 4,735 · see citing works

C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation

Epstein, A. C. R., Gleadle, J. M., McNeill, L. A., Hewitson, K. S., O'Rourke, J., Mole, D. R., Mukherji, M., Metzen, E., Wilson, M. I., Dhanda, A., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00507-4 · Cited by 3,333 · see citing works

Identification of the von Hippel-Lindau Disease Tumor Suppressor Gene

Latif, F., Tory, K., Gnarra, J. R., Yao, M., Duh, F.-M. C., Orcutt, M. L., Stackhouse, T. M., Kuzmin, I., Modi, W. S., Geil, L., et al. (1993) · Science · doi:10.1126/science.8493574 · Cited by 2,971 · see citing works

A conserved family of prolyl-4-hydroxylases that modify HIF

Bruick, R. K., & McKnight, S. L. (2001) · Science · doi:10.1126/science.1066373 · Cited by 2,549 · see citing works

Principles of Exercise Testing and Interpretation.

(1987) · Annals of Internal Medicine · doi:10.7326/0003-4819-106-4-646 · Cited by 2,366 · see citing works

Oxygen sensing by HIF hydroxylases

Schofield, C. J., & Ratcliffe, P. J. (2004) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1366 · Cited by 2,068 · see citing works

Hypoxia-inducible Factor 1α (HIF-1α) Protein Is Rapidly Degraded by the Ubiquitin-Proteasome System under Normoxic Conditions

Salceda, S., & Caro, J. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.36.22642 · Cited by 1,674 · see citing works

Noninvasive estimation of right ventricular systolic pressure by Doppler ultrasound in patients with tricuspid regurgitation.

Yock, P. G., & Popp, R. L. (1984) · Circulation · doi:10.1161/01.cir.70.4.657 · Cited by 1,645 · see citing works

von Hippel-Lindau disease

Lonser, R. R., Glenn, G. M., Walther, M. M., Chew, E. Y., Libutti, S. K., Linehan, W. M., & Oldfield, E. H. (2003) · The Lancet · doi:10.1016/s0140-6736(03)13643-4 · Cited by 1,615 · see citing works

Ubiquitination of hypoxia-inducible factor requires direct binding to the β-domain of the von Hippel–Lindau protein

Ohh, M., Park, C. W., Ivan, M., Hoffman, M. A., Kim, T.-Y., Huang, L. E., Pavletich, N., Chau, V., & Kaelin, W. G. (2000) · Nature Cell Biology · doi:10.1038/35017054 · Cited by 1,577 · see citing works

Differential Roles of Hypoxia-Inducible Factor 1α (HIF-1α) and HIF-2α in Hypoxic Gene Regulation

Hu, C.-J., Wang, L.-Y., Chodosh, L. A., Keith, B., & Simon, M. C. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.24.9361-9374.2003 · Cited by 1,386 · see citing works

Principles of Exercise Testing and Interpretation

Wasserman, K., Hansen, J. E., Sue, D. Y., Whipp, B. J., & Froelicher, V. F. (1987) · Journal of Cardiopulmonary Rehabilitation · doi:10.1097/00008483-198704000-00014 · Cited by 1,150 · see citing works

Cellular adaptation to hypoxia: O ₂ ‐sensing protein hydroxylases, hypoxia‐inducible transcription factors, and O ₂ ‐regulated gene expression

Wenger, R. H. (2002) · The FASEB Journal · doi:10.1096/fj.01-0944rev · Cited by 1,135 · see citing works

Differential Function of the Prolyl Hydroxylases PHD1, PHD2, and PHD3 in the Regulation of Hypoxia-inducible Factor

Appelhoff, R. J., Tian, Y.-M., Raval, R. R., Turley, H., Harris, A. L., Pugh, C. W., Ratcliffe, P. J., & Gleadle, J. M. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m406026200 · Cited by 1,108 · see citing works

Independent function of two destruction domains in hypoxia-inducible factor-α chains activated by prolyl hydroxylation

Masson, N., Willam, C., Maxwell, P. H., Pugh, C. W., & Ratcliffe, P. J. (2001) · The EMBO Journal · doi:10.1093/emboj/20.18.5197 · Cited by 1,014 · see citing works

Hydroxylation of HIF-1: Oxygen Sensing at the Molecular Level

Semenza, G. L. (2004) · Physiology · doi:10.1152/physiol.00001.2004 · Cited by 901 · see citing works

The von Hippel–Lindau tumour suppressor protein: O2 sensing and cancer

Kaelin, W. G. (2008) · Nature reviews. Cancer · doi:10.1038/nrc2502 · Cited by 731 · see citing works

GENETICS OF HUMAN CANCER

Knudson, A. G. (1986) · Annual Review of Genetics · doi:10.1146/annurev.ge.20.120186.001311 · Cited by 559 · see citing works

Oxygen-dependent regulation of mitochondrial respiration by hypoxia-inducible factor 1

Semenza, G. L. (2007) · Biochemical Journal · doi:10.1042/bj20070389 · Cited by 541 · see citing works

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

Ang, S. O., Chen, H., Hirota, K., Gordeuk, V. R., Jelinek, J., Guan, Y., Liu, E., Sergueeva, A. I., Miasnikova, G. Y., Mole, D., et al. (2002) · Nature Genetics · doi:10.1038/ng1019 · Cited by 510 · see citing works

New Formula for Predicting Mean Pulmonary Artery Pressure Using Systolic Pulmonary Artery Pressure

Chemla, D., Castelain, V., Humbert, M. J. C., Hébert, J., Simonneau, G., Lecarpentier, Y., & Hervé, P. (2004) · CHEST Journal · doi:10.1378/chest.126.4.1313 · Cited by 508 · see citing works

Multiple organ pathology, metabolic abnormalities and impaired homeostasis of reactive oxygen species in Epas1−/− mice.

Scortegagna, M., Ding, K., Oktay, Y., Gaur, A., Thurmond, F., Yan, L.-J., Marck, B. T., Matsumoto, A. M., Shelton, J. M., Richardson, J. A., et al. (2003) · Nature Genetics · doi:10.1038/ng1266 · Cited by 496 · see citing works

Mutation and cancer: neuroblastoma and pheochromocytoma.

Knudson, A. G., & Strong, L. C. (1972) · PubMed · Cited by 341 · see citing works

A Gain-of-Function Mutation in the <i>HIF2A</i> Gene in Familial Erythrocytosis

Percy, M. J., Furlow, P. W., Lucas, G. S., Li, X., Lappin, T. R. J., McMullin, M. F., & Lee, F. S. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa073123 · Cited by 314 · cited 2× · see citing works

Operation Everest II: elevated high-altitude pulmonary resistance unresponsive to oxygen

Groves, B. Μ., Reeves, J. Τ., Sutton, J. R., Wagner, P. D., Cymerman, A., Malconian, M. K., Rock, P. B., Young, P. M. M., & Houston, C. S. (1987) · Journal of Applied Physiology · doi:10.1152/jappl.1987.63.2.521 · Cited by 313 · see citing works

Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors

Gordeuk, V. R., Sergueeva, A. I., Miasnikova, G. Y., Okhotin, D., Voloshin, Y., Choyke, P. L., Butman, J. A., Jedlickova, K., Prchal, J. T., & Polyakova, L. A. (2004) · Blood · doi:10.1182/blood-2003-07-2535 · Cited by 273 · see citing works

Stress Doppler echocardiography for identification of susceptibility to high altitude pulmonary edema

Grünig, E., Mereles, D., Hildebrandt, W., Swenson, E. R., Kübler, W., Kuecherer, H. F., & Bärtsch, P. (2000) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(99)00633-6 · Cited by 240 · see citing works

Non‐invasive assessment of cardiac output during exercise in healthy young humans: comparison between Modelflow method and Doppler echocardiography method

Sugawara, J., Tanabe, T., Miyachi, M., Yamamoto, K., Takahashi, K., Iemitsu, M., Otsuki, T., Homma, S. T., Maeda, S., Ajisaka, R., et al. (2003) · Acta Physiologica Scandinavica · doi:10.1046/j.0001-6772.2003.01211.x · Cited by 230 · see citing works

Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.

Prowse, A. H., Webster, A. R., Richards, F. M., Richard, S., Olschwang, S., Resche, F., Affara, N. A., & Maher, E. R. (1997) · Europe PMC (PubMed Central) · Cited by 215 · see citing works

Regulation of HIF prolyl hydroxylases by hypoxia‐inducible factors

Aprelikova, O. N., Chandramouli, G. V. R., Wood, M. J. A., Vasselli, J. R., Riss, J., Maranchie, J. K., Linehan, W. M., & Barrett, J. C. (2004) · Journal of Cellular Biochemistry · doi:10.1002/jcb.20067 · Cited by 212 · see citing works

Determination of stroke volume and cardiac output during exercise: comparison of two-dimensional and Doppler echocardiography, Fick oximetry, and thermodilution.

Christie, J., Sheldahl, L. M., Tristani, F. E., Sagar, K. B., Ptacin, M. J., & Wann, S. (1987) · Circulation · doi:10.1161/01.cir.76.3.539 · Cited by 194 · see citing works

Effects of Iron Supplementation and Depletion on Hypoxic Pulmonary Hypertension

Smith, T. G., Talbot, N. P., Privat, C., Rivera, M. C., Nickol, A. H., Ratcliffe, P. J., Dorrington, K. L., Lèon‐Velarde, F., & Robbins, P. A. (2009) · JAMA · doi:10.1001/jama.2009.1404 · Cited by 192 · see citing works

Mutation of von Hippel–Lindau Tumour Suppressor and Human Cardiopulmonary Physiology

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., et al. (2006) · PLoS Medicine · doi:10.1371/journal.pmed.0030290 · Cited by 182 · see citing works

Regulation of human metabolism by hypoxia-inducible factor

Formenti, F., Constantin-Teodosiu, D., Emmanuel, Y., Cheeseman, J., Dorrington, K., Edwards, L., Humphreys, S., Lappin, T., McMullin, M., McNamara, C. J., et al. (2010) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.1002339107 · Cited by 172 · see citing works

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation

Gale, D. P., Harten, S. K., Reid, C. D. L., Tuddenham, E. G. D., & Maxwell, P. H. (2008) · Blood · doi:10.1182/blood-2008-04-153718 · Cited by 157 · see citing works

A prediction-correction scheme for forcing alveolar gases along certain time courses

Robbins, P. A., Swanson, G. D., & Howson, M. G. (1982) · Journal of Applied Physiology · doi:10.1152/jappl.1982.52.5.1353 · Cited by 152 · see citing works

The von Hippel–Lindau Chuvash mutation promotes pulmonary hypertension and fibrosis in mice

Hickey, M. M., Richardson, T., Wang, T., Mosqueira, M., Arguiri, E., Yu, H. D., Yu, Q., Solomides, C., Morrisey, E. E., Khurana, T. S., et al. (2010) · Journal of Clinical Investigation · doi:10.1172/jci36362 · Cited by 140 · see citing works

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

Percy, M. J., Beer, P. A., Campbell, G., Dekker, A. W., Green, A. R., Oscier, D., Rainey, M. G., van Wijk, R., Wood, M., Lappin, T. R. J., et al. (2008) · Blood · doi:10.1182/blood-2008-02-137703 · Cited by 127 · see citing works

Echocardiographic and invasive measurements of pulmonary artery pressure correlate closely at high altitude

Allemann, Y., Sartori, C. S., Lepori, M., Pierre, S., Mélot, C., Naeije, R., Scherrer, U., & Maggiorini, M. (2000) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.2000.279.4.h2013 · Cited by 120 · see citing works

Congenital Polycythemia in Chuvashia

Sergeyeva, A. S., Gordeuk, V. R., Tokarev, Y. N., Sokol, L., Prchal, J. F., & Prchal, J. T. (1997) · Blood · doi:10.1182/blood.v89.6.2148 · Cited by 117 · see citing works

Noninvasive estimation of systolic pressure in the right ventricle in patients with tricuspid regurgitation

Skjærpe, T., & Hatle, L. (1986) · European Heart Journal · doi:10.1093/oxfordjournals.eurheartj.a062126 · Cited by 116 · see citing works

Improved method for cardiac output determination in man using ultrasound Doppler technique

Eriksen, M., & Walløe, L. (1990) · Medical & Biological Engineering & Computing · doi:10.1007/bf02442607 · Cited by 79 · see citing works

Neutrophils from patients with heterozygous germline mutations in the von Hippel Lindau protein (pVHL) display delayed apoptosis and enhanced bacterial phagocytosis

Walmsley, S. R., Cowburn, A. S., Clatworthy, M. R., Morrell, N. W., Roper, E. C., Singleton, V., Maxwell, P. H., Whyte, M. K. B., & Chilvers, E. R. (2006) · Blood · doi:10.1182/blood-2006-04-018796 · Cited by 79 · see citing works

Endothelin-1, vascular endothelial growth factor and systolic pulmonary artery pressure in patients with Chuvash polycythemia.

Bushuev, V. I., Miasnikova, G., Sergueeva, A., Polyakova, L. A., Okhotin, D. J., Gaskin, P. R. A., Debebe, Z., Nekhai, S. A., Castro, O. L., Prchal, J. T., et al. (2006) · PubMed · Cited by 77 · see citing works

A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis

Martini, M., Teofili, L., Cenci, T., Giona, F., Torti, L., Rea, M., Foa, R., Leone, G., & Larocca, L. M. (2008) · Haematologica · doi:10.3324/haematol.13210 · Cited by 73 · see citing works

Multitasking by pVHL in tumour suppression

Frew, I. J., & Krek, W. (2007) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2007.10.001 · Cited by 68 · see citing works

Vascular Complications in Chuvash Polycythemia

Gordeuk, V. R., & Prchal, J. T. (2006) · Seminars in Thrombosis and Hemostasis · doi:10.1055/s-2006-939441 · Cited by 61 · see citing works

Estimation of pulmonary artery pressure by Doppler echocardiography in normal subjects made hypoxic

Peacock, A. J., Challenor, V. F., & Sutherland, G. R. (1990) · Respiratory Medicine · doi:10.1016/s0954-6111(08)80063-7 · Cited by 25 · see citing works

Oxygen Sensing, Homeostasis, and Disease

Semenza, G. L. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1011165 · Cited by 989 · see citing works

Regulation of erythropoiesis by hypoxia-inducible factors

Haase, V. H. (2013) · Blood Reviews · doi:10.1016/j.blre.2012.12.003 · Cited by 787 · see citing works

The physiological functions of iron regulatory proteins in iron homeostasis - an update

Zhang, D., Ghosh, M. C., & Rouault, T. A. (2014) · Frontiers in Pharmacology · doi:10.3389/fphar.2014.00124 · Cited by 301 · see citing works

Pharmacologic Targeting of Hypoxia-Inducible Factors

Semenza, G. L. (2019) · Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-010818-021637 · Cited by 288 · see citing works

Hypoxia-induced signaling in the cardiovascular system: pathogenesis and therapeutic targets

Zhao, Y.-C., Xiong, W., Li, C.-F., Zhao, R.-Z., Lu, H., Song, S., Zhou, Y., Hu, Y.-Q., Shi, B., & Ge, J.-B. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01652-9 · Cited by 243 · see citing works

The role of inflammation in hypoxic pulmonary hypertension: from cellular mechanisms to clinical phenotypes

Pugliese, S. C., Poth, J. M., Fini, M. A., Olschewski, A., Kasmi, K. C. E., & Stenmark, K. R. (2014) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00238.2014 · Cited by 213 · see citing works

Mitochondrial metabolism in pulmonary hypertension: beyond mountains there are mountains

Culley, M. K., & Chan, S. Y. (2018) · Journal of Clinical Investigation · doi:10.1172/jci120847 · Cited by 178 · see citing works

HIF Hydroxylase Pathways in Cardiovascular Physiology and Medicine

Bishop, T., & Ratcliffe, P. J. (2015) · Circulation Research · doi:10.1161/circresaha.117.305109 · Cited by 169 · see citing works

Inhibition of Hypoxia-Inducible Factor Prolyl Hydroxylase Domain Oxygen Sensors: Tricking the Body into Mounting Orchestrated Survival and Repair Responses

Rabinowitz, M. H. (2013) · Journal of Medicinal Chemistry · doi:10.1021/jm400386j · Cited by 165 · see citing works

HIF‐prolyl hydroxylases as therapeutic targets in erythropoiesis and iron metabolism

Haase, V. H. (2017) · Hemodialysis International · doi:10.1111/hdi.12567 · Cited by 161 · see citing works

Pathophysiology and Treatment of High-Altitude Pulmonary Vascular Disease

Wilkins, M. R., Ghofrani, H. A., Weißmann, N., Aldashev, A. A., & Zhao, L. (2015) · Circulation · doi:10.1161/circulationaha.114.006977 · Cited by 160 · see citing works

Pulmonary Hypertension in Acute and Chronic High Altitude Maladaptation Disorders

Sydykov, A. S., Mamazhakypov, A., Maripov, A., Kosanovic, D., Weißmann, N., Ghofrani, H. A., Шогаибович, С. А., & SCHERMULY, R. T. (2021) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph18041692 · Cited by 152 · see citing works

Tibetans living at sea level have a hyporesponsive hypoxia-inducible factor system and blunted physiological responses to hypoxia

Petousi, N., Croft, Q. P. P., Cavalleri, G. L., Cheng, H., Formenti, F., Ishida, K., Lunn, D., McCormack, M., Shianna, K. V., Talbot, N. P., et al. (2013) · Journal of Applied Physiology · doi:10.1152/japplphysiol.00535.2013 · Cited by 135 · see citing works

The Genomics and Genetics of Oxygen Homeostasis

Semenza, G. L. (2020) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-111119-073356 · Cited by 134 · see citing works

The Endothelial Prolyl-4-Hydroxylase Domain 2/Hypoxia-Inducible Factor 2 Axis Regulates Pulmonary Artery Pressure in Mice

Kapitsinou, P. P., Rajendran, G., Astleford, L., Michael, M., Schonfeld, M. P., Fields, T. A., Shay, S. D., French, J. L., West, J. D., & Haase, V. H. (2016) · Molecular and Cellular Biology · doi:10.1128/mcb.01055-15 · Cited by 131 · see citing works

Lung Circulation

Suresh, K. S., & Shimoda, L. A. (2016) · Comprehensive physiology · doi:10.1002/cphy.c140049 · Cited by 159 · see citing works

Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

Bento, C., Percy, M. J., Gardie, B., Maia, T. M., van Wijk, R., Perrotta, S., Ragione, F. D., Almeida, H., Rossi, C., Girodon, F., et al. (2013) · Human Mutation · doi:10.1002/humu.22448 · Cited by 123 · see citing works

Human adaptation to the hypoxia of high altitude: the Tibetan paradigm from the pregenomic to the postgenomic era

Petousi, N., & Robbins, P. A. (2013) · Journal of Applied Physiology · doi:10.1152/japplphysiol.00605.2013 · Cited by 122 · see citing works

Suppression of HIF2 signalling attenuates the initiation of hypoxia-induced pulmonary hypertension

Hu, C., Poth, J. M., Zhang, H., Flockton, A. R., Laux, A., Kumar, S., McKeon, B. A., Mouradian, G. C., Li, M., Riddle, S. R., et al. (2019) · European Respiratory Journal · doi:10.1183/13993003.00378-2019 · Cited by 121 · see citing works

Integrative Analysis of DNA Methylation and Gene Expression Data Identifies EPAS1 as a Key Regulator of COPD

Yoo, S., Takikawa, S., Geraghty, P. M., Argmann, C., Campbell, J. D., Lin, L., Huang, T., Tu, Z., Feronjy, R., Spira, A. E., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1004898 · Cited by 100 · see citing works

Erythrocytosis and Pulmonary Hypertension in a Mouse Model of Human HIF2A Gain of Function Mutation

Tan, Q., Kerestes, H., Percy, M. J., Pietrofesa, R. A., Chen, L., Khurana, T. S., Christofidou‐Solomidou, M., Lappin, T. R. J., & Lee, F. S. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.444059 · Cited by 104 · see citing works

Clinical iron deficiency disturbs normal human responses to hypoxia

Frise, M. C., Cheng, H., Nickol, A. H., Curtis, M. K., Pollard, K. A., Roberts, D. J., Ratcliffe, P. J., Dorrington, K. L., & Robbins, P. A. (2016) · Journal of Clinical Investigation · doi:10.1172/jci85715 · Cited by 102 · see citing works

HIF-2α-mediated induction of pulmonary thrombospondin-1 contributes to hypoxia-driven vascular remodelling and vasoconstriction

Labrousse-Arias, D., Castillo‐González, R., Rogers, N. M., Torres‐Capelli, M., Barreira, B., Aragonés, J., Cogolludo, A. L., Isenberg, J. S., & Calzada, M. J. (2015) · Cardiovascular Research · doi:10.1093/cvr/cvv243 · Cited by 101 · see citing works

HIF and pulmonary vascular responses to hypoxia

Shimoda, L. A., & Laurie, S. S. (2013) · Journal of Applied Physiology · doi:10.1152/japplphysiol.00643.2013 · Cited by 95 · see citing works

Systems biology of oxygen homeostasis

Samanta, D., Prabhakar, N. R., & Semenza, G. L. (2017) · WIREs Systems Biology and Medicine · doi:10.1002/wsbm.1382 · Cited by 81 · see citing works

Regulation of Erythropoiesis by the Hypoxia-Inducible Factor Pathway: Effects of Genetic and Pharmacological Perturbations

Semenza, G. L. (2022) · Annual Review of Medicine · doi:10.1146/annurev-med-042921-102602 · Cited by 74 · see citing works

Carotid body hyperplasia and enhanced ventilatory responses to hypoxia in mice with heterozygous deficiency of PHD2

Bishop, T., Talbot, N. P., Turner, P. J., Nicholls, L. G., Pascual, A., Hodson, E. J., Douglas, G., Fielding, J. W., Smith, T. G., Demetriades, M., et al. (2013) · The Journal of Physiology · doi:10.1113/jphysiol.2012.247254 · Cited by 63 · see citing works

Therapeutic targeting of the HIF oxygen-sensing pathway: Lessons learned from clinical studies

Haase, V. H. (2017) · Experimental Cell Research · doi:10.1016/j.yexcr.2017.05.004 · Cited by 64 · see citing works

Differential Regulation of Pulmonary Vascular Cell Growth by Hypoxia-Inducible Transcription Factor–1α and Hypoxia-Inducible Transcription Factor–2α

Ahmad, A. M., Ahmad, S., Malcolm, K. C., Miller, S. M., Hendry‐Hofer, T. B., Schaack, J. B., & White, C. W. (2013) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2012-0107oc · Cited by 57 · see citing works

A Knock-in Mouse Model of Human PHD2 Gene-associated Erythrocytosis Establishes a Haploinsufficiency Mechanism

Arsenault, P. R., Pei, F., Lee, R., Kerestes, H., Percy, M. J., Keith, B., Simon, M. C., Lappin, T. R. J., Khurana, T. S., & Lee, F. S. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.482364 · Cited by 54 · see citing works

Roxadustat prevents Ang II hypertension by targeting angiotensin receptors and eNOS

Yu, J., Wang, S., Shi, W., Zhou, W., Niu, Y., Huang, S., Zhang, Y., Zhang, A., & Jia, Z. (2021) · JCI Insight · doi:10.1172/jci.insight.133690 · Cited by 52 · see citing works

Overview of Myeloproliferative Neoplasms

Tremblay, D. A., Yacoub, A., & Hoffman, R. (2021) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2020.12.001 · Cited by 52 · see citing works

Loss of smooth muscle cell hypoxia inducible factor‐1α underlies increased vascular contractility in pulmonary hypertension

Barnes, E. A., Chen, C.-H., Sedan, O., & Cornfield, D. N. (2016) · The FASEB Journal · doi:10.1096/fj.201600557r · Cited by 46 · see citing works

The Crossroads of Iron with Hypoxia and Cellular Metabolism. Implications in the Pathobiology of Pulmonary Hypertension

Robinson, J. C., Graham, B. B., Rouault, T. A., & Tuder, R. M. (2014) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2014-0021tr · Cited by 42 · see citing works

Cardiovascular adaptation to hypoxia and the role of peripheral resistance

Cowburn, A., Macías, D., Summers, C., Chilvers, E., & Johnson, R. (2017) · eLife · doi:10.7554/elife.28755 · Cited by 33 · see citing works

Mitochondrial Dysfunction: Metabolic Drivers of Pulmonary Hypertension

Suliman, H. B., & Nozik‐Grayck, E. (2019) · Antioxidants and Redox Signaling · doi:10.1089/ars.2018.7705 · Cited by 38 · see citing works

Hypoxia‐induced pulmonary hypertension—Utilizing experiments of nature

Gassmann, M., Cowburn, A. S., Gu, H., Li, J., Rodriguez, M., Babicheva, A., Jain, P., Xiong, M., Gassmann, N. N., Yuan, J. X. ‐., et al. (2020) · British Journal of Pharmacology · doi:10.1111/bph.15144 · Cited by 44 · see citing works

High altitude adaptation in Daghestani populations from the Caucasus

Pagani, L., Ayub, Q., MacArthur, D. G., Xue, Y., Baillie, J. K., Chen, Y., Kozarewa, I., Turner, D. J., Tofanelli, S., Bulayeva, K., et al. (2011) · Human Genetics · doi:10.1007/s00439-011-1084-8 · Cited by 37 · see citing works

Targeting HIF2α-ARNT hetero-dimerisation as a novel therapeutic strategy for pulmonary arterial hypertension

Macías, D., Moore, S., Crosby, A., Southwood, M. R., Du, X., Tan, H., Xie, S., Vassallo, A. M., Wood, A. J. T., Wallace, E. M., et al. (2020) · European Respiratory Journal · doi:10.1183/13993003.02061-2019 · Cited by 35 · see citing works

Hypoxia and panvascular diseases: exploring the role of hypoxia-inducible factors in vascular smooth muscle cells under panvascular pathologies

Hu, Y., Zhao, Y., Li, P., Lu, H., Li, H., & Ge, J. (2023) · 中国科学通报：英文版 · doi:10.1016/j.scib.2023.07.032 · Cited by 37 · see citing works

Plexiform Arteriopathy in Rodent Models of Pulmonary Arterial Hypertension

Carman, B. L., Predescu, D. N., Machado, R. F., & Predescu, S. A. (2019) · American Journal Of Pathology · doi:10.1016/j.ajpath.2019.02.005 · Cited by 36 · see citing works

Breakthrough science: hypoxia-inducible factors, oxygen sensing, and disorders of hematopoiesis

Semenza, G. L. (2021) · Blood · doi:10.1182/blood.2021011043 · Cited by 35 · see citing works

Iron Deficiency Impacts Prognosis but Less Exercise Capacity in Heart Failure with Preserved Ejection Fraction

Aizpurua, A. B., Wijk, S. S., Rocca, H. B., Henkens, M. T. H. M., Weerts, J., Spanjers, M. H. A., Knackstedt, C., & van Empel, V. P. M. (2021) · ESC Heart Failure · doi:10.1002/ehf2.13204 · Cited by 31 · see citing works

Iron, oxygen, and the pulmonary circulation

Frise, M. C., & Robbins, P. A. (2015) · Journal of Applied Physiology · doi:10.1152/japplphysiol.00179.2015 · Cited by 30 · see citing works

Revisiting the role of hypoxia-inducible factors in pulmonary hypertension

Shimoda, L. A., Yun, X., & Sikka, G. (2019) · Current Opinion in Physiology · doi:10.1016/j.cophys.2018.12.003 · Cited by 29 · see citing works

Elevation of iron storage in humans attenuates the pulmonary vascular response to hypoxia

Bart, N., Curtis, M. K., Cheng, H., Hungerford, S. L., McLaren, R., Petousi, N., Dorrington, K. L., & Robbins, P. A. (2016) · Journal of Applied Physiology · doi:10.1152/japplphysiol.00032.2016 · Cited by 28 · see citing works

Idiopathic erythrocytosis: a study of a large cohort with a long follow-up

Randi, M. L., Bertozzi, I., Cosi, E., Santarossa, C., Peroni, E., & Fabris, F. (2015) · Annals of Hematology · doi:10.1007/s00277-015-2548-z · Cited by 28 · see citing works

Diagnosis and management of congenital and idiopathic erythrocytosis

McMullin, M. F. (2012) · Therapeutic Advances in Hematology · doi:10.1177/2040620712458947 · Cited by 28 · see citing works

Lung Circulation

Suresh, K. S., & Shimoda, L. A. (2016) · Comprehensive physiology · doi:10.1002/j.2040-4603.2016.tb00688.x · Cited by 27 · see citing works

Endotyping COPD: hypoxia-inducible factor-2 as a molecular “switch” between the vascular and airway phenotypes?

Myronenko, O., Foris, V., Crnković, S., Olschewski, A., Rocha, S., Nicolls, M. R., & Olschewski, H. (2023) · European Respiratory Review · doi:10.1183/16000617.0173-2022 · Cited by 28 · see citing works

Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHLR200W mutation (Chuvash polycythemia)

Sable, C., Aliyu, Z. Y., Dham, N., Nouraie, M. S., Sachdev, V., Sidenko, S., Miasnikova, G., Polyakova, L. A., Sergueeva, A., Okhotin, D. J., et al. (2011) · Haematologica · doi:10.3324/haematol.2011.051839 · Cited by 25 · see citing works

Hypoxia-Inducible Factor Stabilizers: a New Avenue for Reducing BP While Helping Hemoglobin?

Yousaf, F., & Spinowitz, B. (2016) · Current Hypertension Reports · doi:10.1007/s11906-016-0629-6 · Cited by 23 · see citing works

High-altitude pulmonary edema: the intercellular network hypothesis

Richalet, J., Jeny, F., Callard, P., & Bernaudin, J. (2023) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00292.2022 · Cited by 23 · see citing works

Contrasting effects of ascorbate and iron on the pulmonary vascular response to hypoxia in humans

Talbot, N. P., Croft, Q. P. P., Curtis, M. K., Turner, B. E., Dorrington, K. L., Robbins, P. A., & Smith, T. G. (2014) · Physiological Reports · doi:10.14814/phy2.12220 · Cited by 22 · see citing works

Why Does My Patient Have Erythrocytosis?

Kremyanskaya, M., Mascarenhas, J. O., & Hoffman, R. (2012) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2012.02.011 · Cited by 20 · see citing works

Dexamethasone mimics aspects of physiological acclimatization to 8 hours of hypoxia but suppresses plasma erythropoietin

Liu, C., Croft, Q. P. P., Kalidhar, S., Brooks, J. T. S., Herigstad, M., Smith, T. G., Dorrington, K. L., & Robbins, P. A. (2013) · Journal of Applied Physiology · doi:10.1152/japplphysiol.01414.2012 · Cited by 19 · see citing works

Genetic Background of Congenital Erythrocytosis

McMullin, M. F. (2021) · Genes · doi:10.3390/genes12081151 · Cited by 22 · see citing works

PHD2 deletion in endothelial or arterial smooth muscle cells reveals vascular cell type-specific responses in pulmonary hypertension and fibrosis

Elamaa, H. P., Kaakinen, M., Nätynki, M., Szabó, Z., Ronkainen, V., Äijälä, V. K., Mäki, J. M., Kerkelä, R., Myllyharju, J., & Eklund, L. (2022) · Angiogenesis · doi:10.1007/s10456-021-09828-z · Cited by 19 · see citing works

Oxygen‐sensing pathways and the pulmonary circulation

Slingo, M. (2023) · The Journal of Physiology · doi:10.1113/jp284591 · Cited by 16 · see citing works

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

Slingo, M., Turner, P. J., Christian, H., Buckler, K. J., & Robbins, P. A. (2013) · Journal of Applied Physiology · doi:10.1152/japplphysiol.00530.2013 · Cited by 16 · see citing works

Recent advances in oxygen sensing and signal transduction in hypoxic pulmonary vasoconstriction

Strielkov, I. V., Pak, O., Sommer, N., & Weißmann, N. (2017) · Journal of Applied Physiology · doi:10.1152/japplphysiol.00103.2017 · Cited by 15 · see citing works

Commercial Air Travel and In-Flight Pulmonary Hypertension

Smith, T. G., Chang, R. W., Robbins, P. A., & Dorrington, K. L. (2012) · Aviation Space and Environmental Medicine · doi:10.3357/asem.3451.2013 · Cited by 15 · see citing works

The pulmonary vasculature – lessons from Tibetans and from rare diseases of oxygen sensing

Frise, M. C., & Robbins, P. A. (2014) · Experimental Physiology · doi:10.1113/expphysiol.2014.080507 · Cited by 14 · see citing works

The von Hippel-Lindau Chuvash mutation in mice alters cardiac substrate and high-energy phosphate metabolism

Slingo, M., Cole, M. A., Carr, C. A., Curtis, M. K., Dodd, M. S., Giles, L., Heather, L. C., Tyler, D. J., Clarke, K., & Robbins, P. A. (2016) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.00912.2015 · Cited by 13 · see citing works

Hypoxia-Inducible Factor 2-Alpha Mediated Gene Sets Differentiate Pulmonary Arterial Hypertension

Zhu, J., Zhao, L., Hu, Y., Cui, G., Luo, A., Bao, C., Han, Y., Zhou, T., Lu, W., Wang, J., et al. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.701247 · Cited by 12 · see citing works

The structural basis for intermitochondrial communications is fundamentally different in cardiac and skeletal muscle

Lavorato, M., Formenti, F., & Franzini‐Armstrong, C. (2020) · Experimental Physiology · doi:10.1113/ep087503 · Cited by 12 · see citing works

Hypoxia and Pulmonary Hypertension

Charolidi, N., & Carroll, V. A. (2017) · InTech eBooks · doi:10.5772/67151 · Cited by 8 · see citing works

Human hypoxic pulmonary vasoconstriction is unaltered by 8 h of preceding isocapnic hyperoxia

Cheng, H., Croft, Q. P. P., Frise, M. C., Talbot, N. P., Petousi, N., Robbins, P. A., & Dorrington, K. L. (2017) · Physiological Reports · doi:10.14814/phy2.13396 · Cited by 8 · see citing works

Cardiopulmonary phenotype associated with humanPHD2mutation

Talbot, N. P., Smith, T. G., Balanos, G. M., Dorrington, K. L., Maxwell, P. H., & Robbins, P. A. (2017) · Physiological Reports · doi:10.14814/phy2.13224 · Cited by 9 · see citing works

EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis

Alaikov, T., Ivanova, M., & Shivarov, V. S. (2016) · Hematology · doi:10.1080/10245332.2016.1192394 · Cited by 9 · see citing works

Unraveling the role of HIF and epigenetic regulation in pulmonary arterial hypertension: implications for clinical research and its therapeutic approach

Mitra, A., Yi, D., Dai, Z., & Pérez, V. D. J. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2024.1460376 · Cited by 8 · see citing works

Heritable disorders of oxygen sensing

Semenza, G. L. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62250 · Cited by 7 · see citing works

Heritable disorders of oxygen sensing

Semenza, G. L. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62521 · Cited by 7 · see citing works

Differential Effects of Erythropoietin Administration and Overexpression on Venous Thrombosis in Mice

Stockhausen, S., Kilani, B., Schubert, I., Steinsiek, A.-L., Chandraratne, S., Wendler, F., Eivers, L., von Brühl, M.-L., Maßberg, S., Ott, I., et al. (2023) · Thrombosis and Haemostasis · doi:10.1055/s-0043-1775965 · Cited by 6 · see citing works

Oxygen sensing, anaesthesia and critical care: a narrative review

Slingo, M., & Pandit, J. J. (2021) · Anaesthesia · doi:10.1111/anae.15582 · Cited by 5 · see citing works

Metastatic phaeochromocytoma in a 23‐year‐old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?

Russell, N., Delatycki, M. B., & Grossmann, M. (2015) · Clinical Endocrinology · doi:10.1111/cen.12710 · Cited by 3 · see citing works

Glycolysis in pulmonary arterial hypertension and metabolic reprogramming

Vasconcelos, I., Pérez‐Vizcaíno, F., Leite-Moreira, A. F., Brás‐Silva, C., & Adão, R. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-91704-9.00008-2 · Cited by 3 · see citing works

Endothelial PHD2 deficiency induces apoptosis resistance and inflammation via AKT activation and AIP1 loss independent of HIF2α

Wang, S., Awad, K. S., Chen, L., Siddique, M. A. H., Ferreyra, G. A., Wang, C. L., Joseph, T., Yu, Z., Takeda, K., Demirkale, C. Y., et al. (2024) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00077.2024 · Cited by 3 · see citing works

CD137 Signaling Mediates Pulmonary Artery Endothelial Cell Proliferation Under Hypoxia By Regulating Mitochondrial Dynamics

Xia, H., Duan, J., Li, M., Chen, N., Zhong, W. H., Ye, Z., Chen, R., & Yuan, W. (2024) · Journal of Cardiovascular Translational Research · doi:10.1007/s12265-024-10493-y · Cited by 3 · see citing works

Von Hippel-Lindau protein and respiratory diseases

Chen, T. (2013) · World Journal of Respirology · doi:10.5320/wjr.v3.i3.48 · Cited by 3 · see citing works

Pulmonary Circulation

Maggiorini, M., Bärtsch, P., & Swenson, E. R. (2013) · Springer eBooks · doi:10.1007/978-1-4614-8772-2_5 · Cited by 3 · see citing works

Lessons of the month 1: Learning from Harvey; improving blood-taking by pointing the needle in the right direction

Dorrington, K. L., & Frise, M. C. (2019) · Clinical Medicine · doi:10.7861/clinmed.2019-0242 · Cited by 2 · see citing works

Long-term treatment of chronic kidney disease patients with anemia using hypoxia-inducible factor prolyl hydroxylase inhibitors: potential concerns

He, J., Jia, Z., Zhang, A., & Bai, M. (2023) · Pediatric Nephrology · doi:10.1007/s00467-023-06031-8 · Cited by 1 · see citing works

Tools and strategies to improve human locomotion performance and safety throughout history: on ice skates, skis, mountains and the battlefield

Formenti, F., Askew, G. N., & Minetti, A. E. (2025) · Journal of Experimental Biology · doi:10.1242/jeb.247851 · Cited by 1 · see citing works

Hypoxia-induced pulmonary hypertension -- utilising experiments of naturePreprint

Zhao, L. (2020) · doi:10.22541/au.158212885.56141666 · Cited by 1 · see citing works

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

Ar, R., Slingo, M., Turner, P. J., Christian, H., & Buckler, K. J. (2015)

Rilevazione di ossigeno, omeostasi e malattia

Semenza, G. L. (2011)

Molecular genetics of the myeloproliferative neoplasms

Beer, P. A. (2016) · Wiley eBooks · doi:10.1002/9781118527948.ch2

Novel and Relevant Mechanistic Pathways

Wilkins, M. R., & Rabinovitch, M. (2020) · Advances in Pulmonary Hypertension · doi:10.21693/1933-088x-19.2.42

Oxygen Sensing, Homeostasis, and Disease

Bels, D. D., Corazza, F., & Balestra, C. (2011) · New England Journal of Medicine · doi:10.1056/nejmc1110602

Faculty Opinions recommendation of Suppression of HIF2 signalling attenuates the initiation of hypoxia-induced pulmonary hypertension.

Shimoda, L. A., & Belecanech, R. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.736602248.793566784

Therapeutic Phlebotomy (TP): A Continuously Evolving Primeval Remedy—Five-Year Experience and Review from a Tertiary Healthcare Center in India

Dhiman, Y., Khatiwada, B., Raturi, M., & Gaur, D. S. (2025) · Indian Journal of Hematology and Blood Transfusion · doi:10.1007/s12288-025-02034-7

BindingDB Entry 50043829: Inhibition of hypoxia-inducible factor prolyl hydroxylase domain oxygen sensors: tricking the body into mounting orchestrated survival and repair responses.

BindingDB (2014) · UC San Diego · doi:10.7270/q290258t

Mutation of von Hippel–Lindau Tumour Suppressor and Human Cardiopulmonary Physiology

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., et al. (2006) · PLoS Medicine · doi:10.1371/journal.pmed.0030290 · Cited by 182 · see citing works

The FASEB Journal • Research Communication

Robbins, P. A. (2016)

The role of von Hippel -Lindau mutation in polycythemia and pulmonary hypertension

Hickey, M. M. (2008) · Scholarly Commons (University of Pennsylvania)

Mutation of the von Hippel-Lindau Gene Alters Human Cardiopulmonary Physiology

Smith, T. G., Brooks, J. T. S., Balanos, G. M., Lappin, T. R. J., Layton, D. M., Leedham, D. L., Liu, C., Maxwell, P. H., McMullin, M. F., McNamara, C., et al. (2007) · Advances in experimental medicine and biology · doi:10.1007/978-0-387-73693-8_9 · Cited by 17 · see citing works

The role of hypoxia-inducible factor in systemic human physiology

Formenti, F. (2010) · Oxford University Research Archive (ORA) (University of Oxford) · doi:10.5287/ora-5jdgbdpke