Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation
Open accessAbstract
investigated for BCR-ABL transcripts with 2 different polymerase chain reaction (PCR) methods as previously described in detail.1,2 Forty-six (1.8%) cases showed an ambiguous result and were not considered for further analysis.Of the remaining 2498 cases, 904 (36.2%) were BCR-ABL ϩ (599 ϭ 24% minor breakpoint region [m-bcr] and 282 ϭ 11.3% major breakpoint region [M-bcr], 15 ϭ 0.6% both, M-bcr and m-bcr, and 8 atypical transcripts), and 1594 were BCR-ABL Ϫ .Atypical transcripts were not systematically detected before 2000 1 and thus had to be excluded from further analysis.We grouped patients into age cohorts at 10-year intervals according to their age at diagnosis, each comprising between 277 and 481 patients and found a remarkable increase of BCR-ABL frequency in adolescents and young adults (Figure 1).It increased from 12.7% in adolescents (15-24 years) to 30.6% and 43.7% in patients aged 25 to 34 and 35 to 44 years, respectively.In patients older than 44 years, the BCR-ABL frequency showed no further increment and ranged between 42% and 44%.The increase of BCR-ABL frequency was paralleled by a relative increase of M-bcr transcripts.These transcripts accounted for 16.4% of all BCR-ABL-positive cases in adolescents (15-24 years).Their relative frequency increased to 22.5% in 25-to 34-year-olds and to 36.8% in 35-to 44-year-olds and remained between 33% and 36.2% from then on.The reason for this age dependency is not obvious.The relative frequencies of immunologic subtypes (78.2% common, 19.9% pre-B, 1.9% pro-B) of BCR-ABL ϩ patients did not differ significantly across the age groups.Moreover, the frequency of BCR-ABL was also not significantly different in woman compared with men.Our study excluded lymphatic blast crises in patients with known chronic myeloid leukemia (CML).Previous work has indicated that M-bcr-and m-bcr-positive ALL may arise from different sets of hematopoietic progenitor cells, 3 but this does not explain the age dependency.A number of genetic markers in ALL show a marked age dependency (reviewed in Armstrong and Look 4 ), eg, TEL-AML1, TLX1, and TLX3, MLL aberrations (especially in infant ALL).Our data provide additional information on the biology of BCR-ABL-positive ALL and substantiate evidence of age-dependent variation in the genetic background of ALL.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Most gain-of-function mutations in HIF-2α are in direct proximity to proline residue 531.
“Most gain-of-function mutations in HIF-2α are in direct proximity to proline residue 531, which is one of the two main hydroxylation sites (the other major hydroxylation site is proline 405). 147–154”
From Regulation of erythropoiesis by hypoxia-inducible factors (2013) · cites this paper as [149]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Widespread, hypoxia‐inducible expression of HIF‐2α in distinct cell populations of different organs
Wiesener, M. S., Jürgensen, J. S., Rosenberger, C., Scholze, C. K., Hörstrup, J. H., Warnecke, C., Mandriota, S. J., Bechmann, I., Frei, U. A., Pugh, C. W., et al. (2002) · The FASEB Journal · doi:10.1096/fj.02-0445fje · Cited by 741 · 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
Warnecke, C., Zaborowska, Z., Kurreck, J., Erdmann, V. A., Frei, U. A., Wiesener, M. S., & Eckardt, K. (2004) · The FASEB Journal · doi:10.1096/fj.04-1640fje · Cited by 395 · see citing works
Percy, M. J., Zhao, Q., Flores, A., Harrison, C., Lappin, T. R. J., Maxwell, P. H., McMullin, M. F., & Lee, F. S. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0508423103 · Cited by 330 · see citing works
Self-citationBrusselmans, K., Compernolle, V., Tjwa, M., Wiesener, M. S., Maxwell, P. H., Collen, D., & Carmeliet, P. (2003) · Journal of Clinical Investigation · doi:10.1172/jci15496 · Cited by 316 · 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 · 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
Hickey, M. M., Lam, J. C., Bezman, N. A., Rathmell, W. K., & Simon, M. C. (2007) · Journal of Clinical Investigation · doi:10.1172/jci32614 · Cited by 110 · see citing works
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
Howarth, C., Chanarin, I., Janowska‐Wieczorek, A., & Napier, J. A. F. (1979) · Scandinavian Journal of Haematology · doi:10.1111/j.1600-0609.1979.tb02694.x · Cited by 6 · see citing works
Flagged first, then by citations
1 of the 11 references couldn’t be matched to a known paper.
Research works printed but not linked: 4
- Burmeister T, Schwartz S, Taubald A, et al. Atypical BCR-ABL mRNA tran- scripts in adult ALL. Haematologica. 2007;92:1699-1702.
- Gleissner B, Go ¨kbuget N, Bartram CR, et al. Leading prognostic relevance of the BCR-ABL translocation in adult acute B-lineage lymphoblastic leukemia: a prospective study of the German Multicenter Trial Group and confirmed poly- merase chain reaction analysis. Blood. 2002;99:1536-1543.
- Castor A, Nilsson L, Astrand-Grundstro ¨m I, et al. Distinct patterns of hemato- poietic stem cell involvement in acute lymphoblastic leukemia. Nat Med. 2005; 11:630-637.
- Armstrong SA, Look AT. Molecular genetics of acute lymphoblastic leukemia. J Clin Oncol. 2005;23:6306-6315. References
Cited by
Sorted by citations
Beall, C. M., Cavalleri, G. L., Deng, L., Elston, R. C., Gao, Y., Knight, J., Li, C., Li, J. C., Liang, Y., McCormack, M., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1002443107 · Cited by 845 · 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
Hypoxia-inducible factors: cancer progression and clinical translation
Wicks, E. E., & Semenza, G. L. (2022) · Journal of Clinical Investigation · doi:10.1172/jci159839 · Cited by 600 · see citing works
Warren, H. R., Εvangelou, Ε., Cabrera, C. P., Gao, H., Ren, M., Mifsud, B., Ntalla, I., Surendran, P., Liu, C., Cook, J. P., et al. (2017) · Nature Genetics · doi:10.1038/ng.3768 · Cited by 545 · see citing works
Human high-altitude adaptation: forward genetics meets the HIF pathwayPreprint
Bigham, A. W., & Lee, F. S. (2014) · Genes & Development · doi:10.1101/gad.250167.114 · Cited by 350 · see citing works
Endothelial cells in the pathogenesis of pulmonary arterial hypertension
Evans, C. E., Cober, N. D., Dai, Z., Stewart, D. J., & Zhao, Y. (2021) · European Respiratory Journal · doi:10.1183/13993003.03957-2020 · Cited by 328 · 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
HIF prolyl hydroxylase inhibitors for the treatment of renal anaemia and beyond
Maxwell, P. H., & Eckardt, K. (2015) · Nature Reviews Nephrology · doi:10.1038/nrneph.2015.193 · Cited by 286 · see citing works
Taylor, K. D., Norris, J. M., & Rotter, J. I. (2007) · Diabetes · doi:10.2337/db07-1324 · Cited by 307 · see citing works
Hypoxia-induced signaling in the cardiovascular system: pathogenesis and therapeutic targets
Zhao, Y., Xiong, W., Li, C., Zhao, R., Lu, H., Song, S., Zhou, Y., Hu, Y., Shi, B., & Ge, J. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01652-9 · Cited by 264 · see citing works
Targeting Vascular Remodeling to Treat Pulmonary Arterial Hypertension
Thompson, A. A. R., & Lawrie, A. (2016) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2016.11.005 · Cited by 243 · see citing works
Hypoxia-inducible factor signaling in pulmonary hypertension
Pullamsetti, S. S., Mamazhakypov, A., Weissmann, N., Seeger, W., & Savai, R. (2020) · Journal of Clinical Investigation · doi:10.1172/jci137558 · Cited by 234 · see citing works
Dai, Z., Li, M., Wharton, J., Zhu, M. M., & Zhao, Y. (2016) · Circulation · doi:10.1161/circulationaha.116.021494 · Cited by 232 · see citing works
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
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
Ghosh, M. C., Zhang, D.-L., Jeong, S. Y., Kovtunovych, G., Ollivierre-Wilson, H., Noguchi, A., Tu, T., Senecal, T., Robinson, G., Crooks, D. R., et al. (2013) · Cell Metabolism · doi:10.1016/j.cmet.2012.12.016 · Cited by 183 · 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
The HIF pathway and erythrocytosis
Lee, F. S., & Percy, M. J. (2011) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathol-011110-130321 · Cited by 177 · 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
Dai, Z., Zhu, M. M., Peng, Y., Machireddy, N., Evans, C. E., Machado, R. F., Zhang, X., & Zhao, Y. (2018) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201710-2079oc · Cited by 163 · see citing works
The increase in pulmonary arterial pressure caused by hypoxia depends on iron status
Smith, T. G., Balanos, G. M., Croft, Q. P. P., Talbot, N. P., Dorrington, K. L., Ratcliffe, P. J., & Robbins, P. A. (2008) · The Journal of Physiology · doi:10.1113/jphysiol.2008.160960 · 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
Sugahara, M., Tanaka, T., & Nangaku, M. (2017) · Kidney International · doi:10.1016/j.kint.2017.02.035 · Cited by 148 · 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
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
Comparative genomic investigation of high-elevation adaptation in ectothermic snakes
Li, J., Gao, Y., Xie, L., Deng, C., Shi, P., Guan, M.-L., Huang, S., Ren, J., Wu, D., Ding, L., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1805348115 · Cited by 132 · 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
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
Physiology and pathophysiology of renal erythropoietin-producing cells
Shih, H., Wu, C., & Lin, S. (2018) · Journal of the Formosan Medical Association · doi:10.1016/j.jfma.2018.03.017 · Cited by 131 · see citing works
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
Petousi, N., & Robbins, P. A. (2013) · Journal of Applied Physiology · doi:10.1152/japplphysiol.00605.2013 · Cited by 122 · see citing works
Hypoxia: Adapting to High Altitude by Mutating <i>EPAS-1</i> , the Gene Encoding HIF-2α
Tissot van Patot, M. C., & Gassmann, M. (2011) · High Altitude Medicine & Biology · doi:10.1089/ham.2010.1099 · Cited by 119 · see citing works
Regulated oxygen sensing by protein hydroxylation in renal erythropoietin-producing cells
Wenger, R. H., & Hoogewijs, D. (2010) · American Journal of Physiology-Renal Physiology · doi:10.1152/ajprenal.00736.2009 · Cited by 116 · see citing works
HIF-α Prolyl Hydroxylase Inhibitors and Their Implications for Biomedicine: A Comprehensive Review
Hirota, K. (2021) · Biomedicines · doi:10.3390/biomedicines9050468 · Cited by 113 · 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
DNA Damage and Pulmonary Hypertension
Ranchoux, B., Meloche, J., Paulin, R., Boucherat, O., Provencher, S., & Bonnet, S. (2016) · International Journal of Molecular Sciences · doi:10.3390/ijms17060990 · Cited by 105 · see citing works
Yap, D. Y. H., McMahon, L. P., Hao, C., Hu, N., Okada, H., Suzuki, Y., Kim, S. G., Lim, S. K., Vareesangthip, K., Hung, C., et al. (2020) · Nephrology · doi:10.1111/nep.13835 · Cited by 105 · see citing works
Hypoxia-Inducible Factor and Its Role in the Management of Anemia in Chronic Kidney Disease
Kaplan, J., Sharma, N., & Dikdan, S. J. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19020389 · Cited by 104 · see citing works
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
Prolyl Hydroxylase Domain Inhibitors: A Route to HIF Activation and Neuroprotection
Harten, S. K., Ashcroft, M. A., & Maxwell, P. H. (2009) · Antioxidants and Redox Signaling · doi:10.1089/ars.2009.2870 · Cited by 99 · 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
Formenti, F., Beer, P. A., Croft, Q. P. P., Dorrington, K. L., Gale, D. P., Lappin, T. R. J., Lucas, G. S., Maher, E. R., Maxwell, P. H., McMullin, M. F., et al. (2011) · The FASEB Journal · doi:10.1096/fj.10-177378 · Cited by 92 · see citing works
Self-citationCamps, C., Petousi, N., Bento, C., Cario, H., Copley, R. R., McMullin, M. F., van Wijk, R., Ratcliffe, P. J., Robbins, P. A., & Taylor, J. C. (2016) · Haematologica · doi:10.3324/haematol.2016.144063 · Cited by 90 · see citing works
Novel insights into the polycythemia–paraganglioma–somatostatinoma syndrome
Därr, R., Nambuba, J., Rivero, J. D., Janssen, I., Merino, M. J., Todorović, M., Balint, B., Jochmanová, I., Prchal, J. T., Lechan, R. M., et al. (2016) · Endocrine Related Cancer · doi:10.1530/erc-16-0231 · Cited by 84 · see citing works
Update on mutations in the HIF: EPO pathway and their role in erythrocytosis
Lappin, T. R. J., & Lee, F. S. (2019) · Blood Reviews · doi:10.1016/j.blre.2019.100590 · Cited by 82 · see citing works
Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension
Newman, J. H., Holt, T. N., Cogan, J. D., Womack, B., Phillips, J. A., Li, C., Kendall, Z., Stenmark, K. R., Thomas, M., Brown, R. D., et al. (2015) · Nature Communications · doi:10.1038/ncomms7863 · Cited by 84 · see citing works
Defective Tibetan PHD2 Binding to p23 Links High Altitude Adaption to Altered Oxygen Sensing
Song, D., Li, L.-S., Arsenault, P. R., Tan, Q., Bigham, A. W., Heaton-Johnson, K. J., Master, S. R., & Lee, F. S. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.541227 · Cited by 80 · see citing works
Therapeutic Manipulation of the HIF Hydroxylases
Nagel, S., Talbot, N. P., Mecinović, J., Smith, T. G., Buchan, A. M., & Schofield, C. J. (2009) · Antioxidants and Redox Signaling · doi:10.1089/ars.2009.2711 · Cited by 77 · see citing works
HIF prolyl hydroxylase inhibitors for anemia
Muchnik, E., & Kaplan, J. (2011) · Expert Opinion on Investigational Drugs · doi:10.1517/13543784.2011.566861 · Cited by 76 · see citing works
Semenza, G. L. (2022) · Annual Review of Medicine · doi:10.1146/annurev-med-042921-102602 · Cited by 74 · see citing works
Szucs, B., Szucs, C., Petrekanits, M., & Varga, J. T. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20184329 · Cited by 63 · see citing works
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
Erythrocytosis associated with a novel missense mutation in the BPGM gene
Petousi, N., Copley, R. R., Lappin, T. R. J., Haggan, S. E., Bento, C., Cario, H., Percy, M. J., Ratcliffe, P. J., Robbins, P. A., McMullin, M. F., et al. (2014) · Haematologica · doi:10.3324/haematol.2014.109306 · Cited by 59 · see citing works
Furlow, P. W., Percy, M. J., Sutherland, S., Bierl, C., McMullin, M. F., Master, S. R., Lappin, T. R. J., & Lee, F. S. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m808737200 · Cited by 58 · see citing works
Graham, A. M., & McCracken, K. G. (2019) · Heredity · doi:10.1038/s41437-018-0173-z · Cited by 57 · see citing works
Idiopathic erythrocytosis: a disappearing entity
McMullin, M. F. (2009) · Hematology · doi:10.1182/asheducation-2009.1.629 · Cited by 56 · see citing works
Ladroue, C., Hoogewijs, D., Gad, S., Carcenac, R., Storti, F., Barrois, M., Gimenez-Roqueplo, A.-P., Leporrier, M., Casadevall, N., Hermine, O., et al. (2012) · Haematologica · doi:10.3324/haematol.2011.044644 · Cited by 55 · see citing works
Burrows, N., & Maxwell, P. H. (2017) · Experimental Cell Research · doi:10.1016/j.yexcr.2017.03.019 · Cited by 55 · see citing works
Inherited predisposition to myeloproliferative neoplasms
Jones, A. V., & Cross, N. C. P. (2013) · Therapeutic Advances in Hematology · doi:10.1177/2040620713489144 · Cited by 53 · see citing works
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
The role of PHD2 mutations in the pathogenesis of erythrocytosis
Gardie, B., Percy, M. J., Hoogewijs, D., Chowdhury, R., Bento, C., McMullin, M. F., Schofield, C. J., Lee, F. S., Richard, S., Arsenault, P. R., et al. (2014) · Hypoxia · doi:10.2147/hp.s54455 · Cited by 51 · see citing works
Wenger, R. H., & Kurtz, A. (2011) · Comprehensive physiology · doi:10.1002/cphy.c100075 · Cited by 53 · see citing works
Investigation and Management of Erythrocytosis
McMullin, M. F. (2016) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-016-0334-1 · Cited by 49 · see citing works
HIF stabilizers in the management of renal anemia: from bench to bedside to pediatrics
Kular, D., & Macdougall, I. C. (2018) · Pediatric Nephrology · doi:10.1007/s00467-017-3849-3 · Cited by 46 · see citing works
Thin Air, Thick Vessels: Historical and Current Perspectives on Hypoxic Pulmonary Hypertension
Young, J. M., Williams, D. R., & Thompson, A. A. R. (2019) · Frontiers in Medicine · doi:10.3389/fmed.2019.00093 · Cited by 46 · see citing works
Bond, J., Gale, D. P., Connor, T. M. F., Adams, S. P., de Boer, J., Gascoyne, D. M., Williams, O., Maxwell, P. H., & Ancliff, P. (2011) · Blood · doi:10.1182/blood-2010-12-327569 · Cited by 45 · see citing works
Iron Deficiency in Pulmonary Arterial Hypertension: A Deep Dive into the Mechanisms
Quatredeniers, M., Mendes‐Ferreira, P., Santos‐Ribeiro, D., Nakhleh, M. K., Ghigna, M., Cohen‐Kaminsky, S., & Perros, F. (2021) · Cells · doi:10.3390/cells10020477 · Cited by 45 · see citing works
Evidence of Early-Stage Selection on EPAS1 and GPR126 Genes in Andean High Altitude Populations
Eichstaedt, C. A., Pagani, L., Antão, T., Inchley, C. E., Cardona, A., Mörseburg, A., Clemente, F., Sluckin, T. J., Metspalu, E., Mitt, M., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-13382-4 · Cited by 44 · see citing works
HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease
Tarade, D., Robinson, C. M., Lee, J. E., & Ohh, M. (2018) · Nature Communications · doi:10.1038/s41467-018-05554-1 · Cited by 44 · see citing works
Roxadustat in the treatment of anaemia in chronic kidney disease
Vecchio, L. D., & Locatelli, F. (2017) · Expert Opinion on Investigational Drugs · doi:10.1080/13543784.2018.1417386 · Cited by 43 · see citing works
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
Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia
Frost, J., Frost, M. G., Batie, M., Jiang, H., & Rocha, S. (2021) · Cancers · doi:10.3390/cancers13020350 · Cited by 47 · see citing works
HIF Activation Against CVD in CKD: Novel Treatment Opportunities
Tanaka, T., & Eckardt, K. (2018) · Seminars in Nephrology · doi:10.1016/j.semnephrol.2018.02.006 · Cited by 39 · 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
Erythrocytosis associated with a novel missense mutation in the HIF2A gene
van Wijk, R., Sutherland, S., Van Wesel, A. C. W., Huizinga, E. G., Percy, M. J., Bierings, M., & Lee, F. S. (2010) · Haematologica · doi:10.3324/haematol.2009.017582 · Cited by 38 · see citing works
Heaton, M. P., Smith, T. P. L., Carnahan, J. K., Basnayake, V. R., Qiu, J., Simpson, B., & Kalbfleisch, T. (2016) · F1000Research · doi:10.12688/f1000research.9254.2 · Cited by 38 · see citing works
Hypoxia-inducible factors: roles in cardiovascular disease progression, prevention, and treatment
Semenza, G. L. (2022) · Cardiovascular Research · doi:10.1093/cvr/cvac089 · Cited by 39 · see citing works
Two new mutations in the <i>HIF2A</i> gene associated with erythrocytosis
Percy, M. J., Chung, Y. J., Harrison, C., Mercieca, J., Hoffbrand, A. V., Dinardo, C. L., Santos, P. C. J. L., Fonseca, G. H. H., Gualandro, S. F. M., Pereira, A. C., et al. (2012) · American Journal of Hematology · doi:10.1002/ajh.23123 · Cited by 37 · see citing works
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
Archaic inheritance: supporting high-altitude life in Tibet
Huerta‐Sánchez, E., & Casey, F. (2015) · Journal of Applied Physiology · doi:10.1152/japplphysiol.00322.2015 · Cited by 35 · see citing works
Gale, D. P., & Maxwell, P. H. (2009) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2009.10.012 · Cited by 32 · see citing works
Su, J., Li, Z., Cui, S., Ji, L., Geng, H., Chai, K.-X., Ma, X., Bai, Z., Yang, Y., Wuren, T., et al. (2015) · High Altitude Medicine & Biology · doi:10.1089/ham.2015.0015 · Cited by 31 · see citing works
Hypoxia Inducible Factor pathway proteins in high-altitude mammals
Lee, F. S. (2023) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2023.11.002 · Cited by 31 · see citing works
Novel Experimental Therapies for Treatment of Pulmonary Arterial Hypertension
Zolty, R. (2021) · Journal of Experimental Pharmacology · doi:10.2147/jep.s236743 · Cited by 30 · see citing works
HIF Oxygen Sensing Pathways in Lung Biology
Urrutia, A. A., & Aragonés, J. (2018) · Biomedicines · doi:10.3390/biomedicines6020068 · Cited by 29 · see citing works
Heaton, M. P., Smith, T. P. L., Carnahan, J. K., Basnayake, V. R., Qiu, J., Simpson, B., & Kalbfleisch, T. (2016) · F1000Research · doi:10.12688/f1000research.9254.1 · Cited by 28 · see citing works
Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis
Percy, M. J., & Rumi, E. (2008) · American Journal of Hematology · doi:10.1002/ajh.21313 · Cited by 28 · see citing works
Perrotta, S., Stiehl, D. P., Punzo, F., Scianguetta, S., Borriello, A., Bencivenga, D., Casale, M., Nobili, B., Fasoli, S., Balduzzi, A., et al. (2013) · Haematologica · doi:10.3324/haematol.2013.088369 · Cited by 28 · see citing works
Luque, Y., Lenoir, O., Bonnin, P., Hardy, L. M., Chipont, A., Placier, S., Vandermeersch, S., Xu, Y., Robin, B., Lazareth, H., et al. (2017) · Journal of the American Society of Nephrology · doi:10.1681/asn.2016090960 · Cited by 28 · see citing works
Suresh, K. S., & Shimoda, L. A. (2016) · Comprehensive physiology · doi:10.1002/j.2040-4603.2016.tb00688.x · Cited by 27 · see citing works
A Transgenic Mouse Model of Pacak–Zhuang Syndrome with An Epas1 Gain-of-Function Mutation
Wang, H., Cui, J., Yang, C., Rosenblum, J. S., Zhang, Q., Song, Q., Pang, Y. K., Fang, F. Y., Sun, M., Dmitriev, P., et al. (2019) · Cancers · doi:10.3390/cancers11050667 · Cited by 26 · see citing works
Zheng, Q., Lu, W., Yan, H., Duan, X., Chen, Y., Zhang, C., Luo, X., Chen, J., Wang, C., Liu, S., et al. (2021) · British Journal of Pharmacology · doi:10.1111/bph.15696 · Cited by 27 · see citing works
Voisin, S. A. C., Cięszczyk, P., Pushkarev, V. P., Dyatlov, D. A., Vashlyayev, B. F., Shumaylov, V. A., Maciejewska, A., Sawczuk, M., Skuza, L., Jastrzębski, Z., et al. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-382 · Cited by 28 · see citing works
HIF pathway mutations and erythrocytosis
McMullin, M. F. (2010) · Expert Review of Hematology · doi:10.1586/ehm.09.68 · Cited by 25 · see citing works
Rodríguez-Pérez, J., Andreu-Martínez, R., Daza, R., Fernández-Arroyo, L., Hernández-García, A., Díaz‐García, E., Cubillos‐Zapata, C., Lozano-Díez, A., Morales, A., Ramos, D., et al. (2025) · Antioxidants · doi:10.3390/antiox14070839 · Cited by 28 · 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
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
Pang, Y. K., Gupta, G., Jha, A., Yue, X., Wang, H., Huynh, T., Li, A., Li, L., Baker, E. H., Chew, E. Y., et al. (2019) · Cancer · doi:10.1002/cncr.31839 · Cited by 21 · see citing works
Integration and Visualization of Regulatory Elements and Variations of the EPAS1 Gene in Human
Kristan, A., Debeljak, N., & Kunej, T. (2021) · Genes · doi:10.3390/genes12111793 · Cited by 19 · see citing works
- Authors
- Gale, D. P., Harten, S. K., Reid, C. D. L., Tuddenham, E. G. D., & Maxwell, P. H.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2008-08-01
- Volume
- 112
- Issue
- 3
- Pages
- 919-921
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2074813003
- Cited by
- 157
- References
- 11
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 6 · 2023: 13 · 2022: 4 · 2021: 15 · 2020: 6 · 2019: 11 · 2018: 11 · 2017: 10 · 2016: 19 · 2015: 10 · 2014: 9 · 2013: 10 · 2012: 4
- FWCI
- 4.98
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- National Institute for Health and Care Research (NF-SI-0507-10315)
- British Heart Foundation
- Topics
- Health Sciences › Medicine › Hematology › Erythropoietin and Anemia Treatment
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Pulmonary Hypertension Research and Treatments
- Health Sciences › Medicine › Genetics › Myeloproliferative Neoplasms: Diagnosis and Treatment
- Keywords
- pulmonary arterial hypertension, erythropoietin, hypoxia-inducible factor, VHL, erythrocytosis
- MeSH terms
- Endothelial PAS Domain-Containing Protein 1, Adolescent, Adult, Aged, Humans, Hypertension, Pulmonary, Middle Aged, Mutation, Polycythemia, Basic Helix-Loop-Helix Proteins
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
