PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma

Oxygen sensing by metazoans: the central role of the HIF hydroxylase pathway.

Kaelin, W. G., & Ratcliffe, P. J. (2008) · Molecular Cell · doi:10.1016/j.molcel.2008.04.009 · Cited by 3,251 · see citing works

Hypoxia signalling in cancer and approaches to enforce tumour regression

Pouysségur, J., Dayan, F., & Mazure, N. M. (2006) · Nature · doi:10.1038/nature04871 · Cited by 1,676 · see citing works

Germ-Line Mutations in Nonsyndromic Pheochromocytoma

Neumann, H. P. H., Bausch, B., McWhinney, S. R., Bender, B., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., et al. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa020152 · Cited by 1,350 · see citing works

HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: Novel role of fumarate in regulation of HIF stability

Isaacs, J. S., Jung, Y. J., Mole, D. R., Lee, S., Torres-Cabala, C., Chung, Y.-L., Merino, M., Trepel, J., Zbar, B., Toro, J., et al. (2005) · Cancer Cell · doi:10.1016/j.ccr.2005.06.017 · Cited by 958 · see citing works

Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations

Pollard, P. J., Brière, J. J., Alam, N. A., Barwell, J., Barclay, E., Wortham, N. C., Hunt, T., Mitchell, M., Olpin, S., Moat, S. J., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi227 · Cited by 865 · see citing works

Iron-Overload–Related Disease inHFEHereditary Hemochromatosis

Allen, K. J., Gurrin, L. C., Constantine, C. C., Osborne, N. J., Delatycki, M. B., Nicoll, A., McLaren, C. E., Bahlo, M., Nisselle, A. E., Vulpe, C. D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa073286 · Cited by 730 · see citing works

Life with Oxygen

Semenza, G. L. (2007) · Science · doi:10.1126/science.1147949 · Cited by 706 · see citing works

Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor

Ivan, M., Haberberger, T., Gervasi, D. C., Michelson, K. S., Günzler, V., Kondo, K., Yang, H., Sorokina, I., Conaway, R. C., Conaway, J. W., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.192342099 · Cited by 561 · see citing works

Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer

Lee, S., Nakamura, E., Yang, H., Wei, W., Linggi, M. S., Sajan, M. P., Farese, R. V., Freeman, R. S., Carter, B. D., Kaelin, W. G., et al. (2005) · Cancer Cell · doi:10.1016/j.ccr.2005.06.015 · Cited by 527 · 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

A role for mitochondrial enzymes in inherited neoplasia and beyond

Eng, C., Kiuru, M., Fernandez, M. J., & Aaltonen, L. A. (2003) · Nature Reviews Cancer · doi:10.1038/nrc1013 · Cited by 392 · see citing works

Cellular oxygen sensing: Crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2)

McDonough, M. A., Li, V., Flashman, E., Chowdhury, R., Mohr, C., Liénard, B. M. R., Zondlo, J., Oldham, N. J., Clifton, I. J., Lewis, J. K., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0601283103 · Cited by 366 · see citing works

A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis

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

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

Somatic inactivation of the PHD2 prolyl hydroxylase causes polycythemia and congestive heart failure

Minamishima, Y. A., Moslehi, J., Bardeesy, N., Cullen, D., Bronson, R. T., & Kaelin, W. G. (2008) · Blood · doi:10.1182/blood-2007-10-117812 · Cited by 294 · see citing works

Essential role for prolyl hydroxylase domain protein 2 in oxygen homeostasis of the adult vascular system

Takeda, K., Cowan, A., & Fong, G.-H. (2007) · Circulation · doi:10.1161/circulationaha.107.701516 · Cited by 236 · see citing works

Turn me on: regulating HIF transcriptional activity

Lisy, K., & Peet, D. J. (2008) · Cell Death and Differentiation · doi:10.1038/sj.cdd.4402315 · Cited by 235 · see citing works

The hypoxia‐inducible‐factor hydroxylases bring fresh air into hypoxia signalling

Berra, E., Ginouvès, A., & Pouysségur, J. (2006) · EMBO Reports · doi:10.1038/sj.embor.7400598 · Cited by 196 · see citing works

HIF prolyl hydroxylase inhibition results in endogenous erythropoietin induction, erythrocytosis, and modest fetal hemoglobin expression in rhesus macaques

Hsieh, M. M., Linde, N. S., Wynter, A., Metzger, M., Wong, C., Langsetmo, I., Lin, A., Smith, R., Rodgers, G. P., Donahue, R. E., et al. (2007) · Blood · doi:10.1182/blood-2007-02-073254 · Cited by 171 · see citing works

A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove

Percy, M. J., Furlow, P. W., Beer, P. A., Lappin, T. R. J., McMullin, M. F., & Lee, F. S. (2007) · Blood · doi:10.1182/blood-2007-04-084434 · Cited by 155 · see citing works

Von Hippel-Lindau disease

Richard, S., Graff, J., Lindau, J., & Resche, F. (2004) · The Lancet · doi:10.1016/s0140-6736(04)15957-6 · Cited by 125 · see citing works

Induction of human endometrial cancer cell senescence through modulation of HIF‐1α activity by EGLN1

Kato, H., Inoue, T., Asanoma, K., Nishimura, C., Matsuda, T., & Wake, N. (2005) · International Journal of Cancer · doi:10.1002/ijc.21488 · Cited by 74 · see citing works

RECENT ADVANCES IN THE GENETICS OF PHAEOCHROMOCYTOMA AND FUNCTIONAL PARAGANGLIOMA

Gimenez‐Roqueplo, A., Burnichon, N., Amar, L., Favier, J., Jeunemaı̂tre, X., & Plouin, P. (2008) · Clinical and Experimental Pharmacology and Physiology · doi:10.1111/j.1440-1681.2008.04881.x · Cited by 62 · see citing works

The Biphasic Role of the Hypoxia-Inducible Factor Prolyl-4-Hydroxylase, PHD2, in Modulating Tumor-Forming Potential

Lee, K., Lynd, J. D., O’Reilly, S., Kiupel, M., McCormick, J. J., & LaPres, J. J. (2008) · Molecular Cancer Research · doi:10.1158/1541-7786.mcr-07-2113 · Cited by 52 · see citing works

Disturbance in the HIF-1α pathway associated with erythrocytosis: Further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

Al-Sheikh, M., Moradkhani, K., Lopez, M., Wajcman, H., & Préhu, C. (2008) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2007.07.017 · Cited by 50 · see citing works

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline

Lenders, J. W. M., Duh, Q.-Y., Eisenhofer, G., Gimenez-Roqueplo, A.-P., Grebe, S. K. G., Murad, M. H., Naruse, M., Pacak, K., & Young, W. F. (2014) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2014-1498 · Cited by 2,827 · see citing works

Hypoxia and inflammation

Eltzschig, H. K., & Carmeliet, P. (2011) · New England Journal of Medicine · doi:10.1056/nejmra0910283 · Cited by 2,061 · 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

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Dewey, F. E., Murray, M. F., Overton, J. D., Habegger, L., Leader, J. B., Fetterolf, S. N., O’Dushlaine, C. T., Hout, C. V. V., Staples, J. C., Gonzaga-Jauregui, C. G., et al. (2016) · Science · doi:10.1126/science.aaf6814 · Cited by 533 · see citing works

Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity

Dahia, P. L. M. (2014) · Nature Reviews Cancer · doi:10.1038/nrc3648 · Cited by 545 · see citing works

Somatic<i>HIF2A</i>Gain-of-Function Mutations in Paraganglioma with Polycythemia

Zhuang, Z., Yang, C., Lorenzo, F., Merino, M., Fojo, T., Kebebew, E., Popovic, V., Stratakis, C. A., Prchal, J. T., & Pacak, K. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1205119 · Cited by 397 · see citing works

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Welander, J., Söderkvist, P., & Gimm, O. (2011) · Endocrine Related Cancer · doi:10.1530/erc-11-0170 · Cited by 356 · 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

New Perspectives on Pheochromocytoma and Paraganglioma: Toward a Molecular Classification

Crona, J., Taïeb, D., & Pacák, K. (2017) · Endocrine Reviews · doi:10.1210/er.2017-00062 · Cited by 322 · see citing works

Oxygen homeostasis

Semenza, G. L. (2009) · WIREs Systems Biology and Medicine · doi:10.1002/wsbm.69 · Cited by 311 · see citing works

Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes

Gill, A. J., Benn, D. E., Chou, A. S. Y., Clarkson, A., Muljono, A., Meyer-Rochow, G. Y., Richardson, A. L., Sidhu, S. B., Robinson, B. G., & Clifton-Bligh, R. J. (2010) · Human Pathology · doi:10.1016/j.humpath.2009.12.005 · Cited by 276 · see citing works

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

The NGS in PPGL (NGSnPPGL) Study Group, Toledo, R. A., Burnichon, N., Cascón, A., Benn, D. E., Bayley, J., Welander, J., Tops, C. M. J., Firth, H. V., Dwight, T., et al. (2016) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2016.185 · Cited by 270 · see citing works

Succinate dehydrogenase (SDH)‐deficient neoplasia

Gill, A. J. (2017) · Histopathology · doi:10.1111/his.13277 · Cited by 257 · see citing works

2-Oxoglutarate-dependent dioxygenases in cancer

Losman, J.-A., Koivunen, P., & Kaelin, W. G. (2020) · Nature reviews. Cancer · doi:10.1038/s41568-020-00303-3 · Cited by 225 · see citing works

A Current Review of the Etiology, Diagnosis, and Treatment of Pediatric Pheochromocytoma and Paraganglioma

Waguespack, S. G., Rich, T. A., Grubbs, E. G., Ying, A. K., Perrier, N. D., Ayala‐Ramirez, M., & Jiménez, C. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2830 · Cited by 229 · see citing works

Metabolic transformation in cancer

Tennant, D. A., Durán, R. V., Boulahbel, H., & Gottlieb, E. (2009) · Carcinogenesis · doi:10.1093/carcin/bgp070 · Cited by 226 · see citing works

Tumor Vasculature Is Regulated by PHD2-Mediated Angiogenesis and Bone Marrow-Derived Cell Recruitment

Chan, D. A., Kawahara, T. L. A., Sutphin, P. D., Chang, H. Y., Chi, J., & Giaccia, A. J. (2009) · Cancer Cell · doi:10.1016/j.ccr.2009.04.010 · Cited by 217 · see citing works

Succinate dehydrogenase (SDH) and mitochondrial driven neoplasia

Gill, A. J. (2012) · Pathology · doi:10.1097/pat.0b013e3283539932 · Cited by 215 · see citing works

Pheochromocytoma and paraganglioma: Diagnosis, genetics, management, and treatment

Martucci, V. L., & Pacák, K. (2014) · Current Problems in Cancer · doi:10.1016/j.currproblcancer.2014.01.001 · Cited by 204 · see citing works

Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas

Yao, L., Schiavi, F., Cascón, A., Qin, Y., Inglada‐Pérez, L., King, E. E., Toledo, R. A., Ercolino, T., Rapizzi, E., Ricketts, C. J., et al. (2010) · JAMA · doi:10.1001/jama.2010.1830 · Cited by 201 · see citing works

An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma

Buffet, A., Burnichon, N., Favier, J., & Gimenez‐Roqueplo, A. (2020) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2020.101416 · Cited by 194 · see citing works

Hypoxia-Inducible Factor Activators in Renal Anemia: Current Clinical Experience

Sanghani, N. S., & Haase, V. H. (2019) · Advances in Chronic Kidney Disease · doi:10.1053/j.ackd.2019.04.004 · Cited by 187 · 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

Rare Germline Mutations Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma

Welander, J., Stenman, A., Juhlin, C. C., Wiseman, R. W., Bäckdahl, M., Höög, A., Larsson, C., Gimm, O., & Söderkvist, P. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-4375 · Cited by 172 · see citing works

Hypoxia-Inducible Factor Signaling in Pheochromocytoma: Turning the Rudder in the Right Direction

Jochmanová, I., Yang, C., Zhuang, Z., & Pacák, K. (2013) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djt201 · Cited by 173 · see citing works

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma

Lorenzo, F. R., Yang, C., Ng Tang Fui, M., Vankayalapati, H., Zhuang, Z., Huynh, T., Grossmann, M., Pacak, K., & Prchal, J. T. (2013) · Journal of Molecular Medicine · doi:10.1007/s00109-012-0967-z · Cited by 171 · 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

A feedback loop involving the Phd3 prolyl hydroxylase tunes the mammalian hypoxic response in vivo

Minamishima, Y. A., Moslehi, J., Padera, R. F., Bronson, R. T., Liao, R., & Kaelin, W. G. (2009) · Molecular and Cellular Biology · doi:10.1128/mcb.00331-09 · Cited by 161 · see citing works

New Syndrome of Paraganglioma and Somatostatinoma Associated With Polycythemia

Pacák, K., Jochmanová, I., Prodanov, T., Yang, C., Merino, M. J., Fojo, T., Prchal, J. T., Tischler, A. S., Lechan, R. M., & Zhuang, Z. (2013) · Journal of Clinical Oncology · doi:10.1200/jco.2012.47.1912 · Cited by 156 · see citing works

Prolyl Hydroxylase-3 Is Down-regulated in Colorectal Cancer Cells and Inhibits IKKβ Independent of Hydroxylase Activity

Xue, J., Li, X., Jiao, S., Wei, Y., Wu, G., & Fang, J. S. (2009) · Gastroenterology · doi:10.1053/j.gastro.2009.09.049 · Cited by 150 · see citing works

Somatic Mutations in H-RAS in Sporadic Pheochromocytoma and Paraganglioma Identified by Exome Sequencing

Crona, J., Verdugo, A. D., Maharjan, R., Stalberg, P. L. H., Granberg, D. O., Hellman, P., & Björklund, P. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-4257 · Cited by 146 · see citing works

Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia

Yang, C., Zhuang, Z., Fliedner, S. M. J., Shankavaram, U. T., Sun, M. G., Bullova, P., Zhu, R., ELKAHLOUN, A. G., Kourlas, P. J., Merino, M. J., et al. (2014) · Journal of Molecular Medicine · doi:10.1007/s00109-014-1205-7 · Cited by 146 · see citing works

EGLN1 Inhibition and Rerouting of α-Ketoglutarate Suffice for Remote Ischemic Protection

Olenchock, B. A., Moslehi, J. J., Baik, A. H., Davidson, S. M., Williams, J., Gibson, W. J., Chakraborty, A. A., Pierce, K. A., Miller, C. M., Hanse, E. A., et al. (2016) · Cell · doi:10.1016/j.cell.2016.02.006 · Cited by 141 · 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

IRP1 regulates erythropoiesis and systemic iron homeostasis by controlling HIF2α mRNA translation

Wilkinson, N., & Pantopoulos, K. (2013) · Blood · doi:10.1182/blood-2013-03-492454 · Cited by 133 · see citing works

Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

Muth, A., Crona, J., Gimm, O., Elmgren, A., Filipsson, K., Stenmark‐Askmalm, M., Sandstedt, J., Tengvar, M., & Tham, E. (2018) · Journal of Internal Medicine · doi:10.1111/joim.12869 · Cited by 131 · see citing works

CYSL-1 Interacts with the O2-Sensing Hydroxylase EGL-9 to Promote H2S-Modulated Hypoxia-Induced Behavioral Plasticity in C. elegans

Dengke, K., Vozdek, R., Bhatla, N., & Horvitz, H. R. (2012) · Neuron · doi:10.1016/j.neuron.2011.12.037 · Cited by 129 · see citing works

Hypoxia. 1. Intracellular sensors for oxygen and oxidative stress: novel therapeutic targets

Miyata, T., Takizawa, S., & de Strihou, C. V. Y. (2010) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00430.2010 · Cited by 128 · see citing works

The complete evaluation of erythrocytosis: congenital and acquired

Patnaik, M. M., & Tefferi, A. (2009) · Leukemia · doi:10.1038/leu.2009.54 · Cited by 124 · see citing works

Cell cycle progression in response to oxygen levels

Ortmann, B. M., Druker, J., & Rocha, S. (2014) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-014-1645-9 · Cited by 121 · see citing works

Pheochromocytoma and paraganglioma syndromes: genetics and management update

Lefebvre, M., & Foulkes, W. D. (2013) · Current Oncology · doi:10.3747/co.21.1579 · Cited by 122 · 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

Prolyl 4‐hydroxylases, master regulators of the hypoxia response

Myllyharju, J. (2013) · Acta Physiologica · doi:10.1111/apha.12096 · Cited by 118 · 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

Erythrocytosis: the HIF pathway in control

Franke, K., Gassmann, M., & Wielockx, B. (2013) · Blood · doi:10.1182/blood-2013-01-478065 · Cited by 112 · see citing works

Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era

Pillai, S., Gopalan, V., Smith, R. A., & Lam, A. K.-Y. (2016) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2016.01.022 · Cited by 113 · see citing works

Metastatic Paraganglioma

Fliedner, S. M. J., Lehnert, H., & Pacák, K. (2010) · Seminars in Oncology · doi:10.1053/j.seminoncol.2010.10.017 · Cited by 110 · see citing works

GENETICS IN ENDOCRINOLOGY: The genetics of phaeochromocytoma: using clinical features to guide genetic testing

Jafri, M., & Maher, E. R. (2011) · European Journal of Endocrinology · doi:10.1530/eje-11-0497 · Cited by 106 · see citing works

New targets and therapeutic approaches for endocrine malignancies☆

Fassnacht, M., Kreissl, M. C., Weismann, D., & Allolio, B. (2009) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2009.03.013 · Cited by 104 · see citing works

SDH-related pheochromocytoma and paraganglioma

Kantorovich, V., King, K. S., & Pacák, K. (2010) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2010.04.001 · Cited by 105 · see citing works

Tumor cell-mediated neovascularization and lymphangiogenesis contrive tumor progression and cancer metastasis

Cao, Z., Shang, B., Zhang, G., Miele, L., Sarkar, F. H., Wang, Z. P., & Zhou, Q. (2013) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2013.08.001 · Cited by 103 · 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

The role of HIF prolyl hydroxylases in tumour growth

Jokilehto, T., & Jaakkola, P. (2010) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2010.01030.x · Cited by 102 · see citing works

Update of Pheochromocytoma Syndromes: Genetics, Biochemical Evaluation, and Imaging

Alrezk, R., Suárez, A., Tena, I., & Pacák, K. (2018) · Frontiers in Endocrinology · doi:10.3389/fendo.2018.00515 · Cited by 100 · 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

Hypoxia-Inducible Factor 2 Alpha (HIF2α) Inhibitors: Targeting Genetically Driven Tumor Hypoxia

Toledo, R. A., Jiménez, C., Armaiz-Peña, G., Arenillas, C., Capdevila, J., & Dahia, P. L. M. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnac025 · Cited by 98 · see citing works

Mosaicism inHIF2A-Related Polycythemia-Paraganglioma Syndrome

Buffet, A., Smati, S., Mansuy, L., Menara, M., Bras, M. L., Heymann, M., Simian, C., Favier, J., Murat, A., Cariou, B., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-2600 · Cited by 97 · see citing works

Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas

Yang, C., Sun, M. G., Matro, J. C., Huynh, T., Rahimpour, S., Prchal, J. T., Lechan, R. M., Lonser, R. R., Pacák, K., & Zhuang, Z. (2013) · Blood · doi:10.1182/blood-2012-10-460972 · Cited by 95 · see citing works

The HIF and other quandaries in VHL disease

Tarade, D., & Ohh, M. (2017) · Oncogene · doi:10.1038/onc.2017.338 · Cited by 93 · see citing works

Genomic insights into ayurvedic and western approaches to personalized medicine

Prasher, B., Gibson, G. C., & Mukerji, M. (2016) · Journal of Genetics · doi:10.1007/s12041-015-0607-9 · Cited by 94 · see citing works

Diabetic nephropathy: are there new and potentially promising therapies targeting oxygen biology?

Miyata, T., Suzuki, N., & de Strihou, C. V. Y. (2013) · Kidney International · doi:10.1038/ki.2013.74 · Cited by 88 · see citing works

Genetics of hereditary head and neck paragangliomas

Boedeker, C. C., Hensen, E. F., Neumann, H. P. H., Maier, W., van Nederveen, F. H., Suarez, C. M., Kunst, H. P. M., Rodrigo, J. P., Takes, R. P., Pellitteri, P. K., et al. (2013) · Head & Neck · doi:10.1002/hed.23436 · Cited by 88 · see citing works

Prolyl hydroxylase 2 inactivation enhances glycogen storage and promotes excessive neutrophilic responses

Sadiku, P., Willson, J. A., Dickinson, R. S., Murphy, F. A., Harris, A. J., Lewis, A., Sammut, D., Mirchandani, A. S., Ryan, E. M., Watts, E., et al. (2017) · Journal of Clinical Investigation · doi:10.1172/jci90848 · Cited by 86 · see citing works

Prolyl hydroxylase domain-containing protein inhibitors as stabilizers of hypoxia-inducible factor: small molecule-based therapeutics for anemia

Yan, L. Y., Colandrea, V. J., & Hale, J. J. (2010) · Expert Opinion on Therapeutic Patents · doi:10.1517/13543776.2010.510836 · Cited by 86 · see citing works

AMPK and HIF signaling pathways regulate both longevity and cancer growth: the good news and the bad news about survival mechanisms

Salminen, A., Kaarniranta, K., & Kauppinen, A. (2016) · Biogerontology · doi:10.1007/s10522-016-9655-7 · Cited by 86 · see citing works

HIF-1α is a protective factor in conditional PHD2-deficient mice suffering from severe HIF-2α–induced excessive erythropoiesis

Franke, K., Kalucka, J. M., Mamlouk, S., Singh, R. P., Muschter, A., Weidemann, A., Iyengar, V., Jahn, S., Wieczorek, K. S., Geiger, K. D., et al. (2012) · Blood · doi:10.1182/blood-2012-08-449181 · Cited by 83 · see citing works

Diabetic nephropathy: a disorder of oxygen metabolism?

Miyata, T., & de Strihou, C. V. Y. (2009) · Nature Reviews Nephrology · doi:10.1038/nrneph.2009.211 · Cited by 85 · 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

Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma

Galan, S., & Kann, P. H. (2012) · Clinical Endocrinology · doi:10.1111/cen.12071 · Cited by 83 · see citing works

Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30‐year‐old mystery

Schimke, R. N., Collins, D. L., & Stolle, C. A. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33384 · Cited by 83 · see citing works

HIF prolyl hydroxylase-3 mediates alpha-ketoglutarate-induced apoptosis and tumor suppression

Tennant, D. A., & Gottlieb, E. (2010) · Journal of Molecular Medicine · doi:10.1007/s00109-010-0627-0 · Cited by 83 · see citing works

Hypoxia Pathway Proteins are Master Regulators of Erythropoiesis

Watts, D., Gaete, D., Rodriguez, D., Hoogewijs, D., Rauner, M., Sormendi, S., & Wielockx, B. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21218131 · Cited by 86 · see citing works

The genomic landscape of phaeochromocytoma

Flynn, A., Benn, D. E., Clifton-Bligh, R. J., Robinson, B. G., Trainer, A. H., James, P. A., Hogg, A., Waldeck, K., George, J., Li, J., et al. (2014) · The Journal of Pathology · doi:10.1002/path.4503 · Cited by 79 · see citing works

Paragangliomas/Pheochromocytomas: Clinically Oriented Genetic Testing

Martins, R., & Bugalho, M. J. (2014) · International Journal of Endocrinology · doi:10.1155/2014/794187 · Cited by 80 · see citing works

Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma

Welander, J., Stenman, A., Brauckhoff, M., Bäckdahl, M., Larsson, C., Gimm, O., & Söderkvist, P. (2014) · Endocrine Related Cancer · doi:10.1530/erc-13-0384 · Cited by 79 · see citing works

PHD2 in tumour angiogenesis

Chan, D. A., & Giaccia, A. J. (2010) · British Journal of Cancer · doi:10.1038/sj.bjc.6605682 · Cited by 79 · 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

Vitamin C is dispensable for oxygen sensing in vivo

Nytko, K. J., Maeda, N., Schläfli, P., Spielmann, P., Wenger, R. H., & Stiehl, D. P. (2011) · Blood · doi:10.1182/blood-2010-09-307637 · Cited by 77 · see citing works

Pheochromocytoma and Paraganglioma

Kantorovich, V., & Pacák, K. (2010) · Progress in brain research · doi:10.1016/s0079-6123(10)82015-1 · Cited by 75 · see citing works

OH, the Places You’ll Go! Hydroxylation, Gene Expression, and Cancer

Ploumakis, A., & Coleman, M. L. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.05.026 · Cited by 74 · see citing works

Evaluation of SDHB , SDHD and VHL gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

Jafri, M., Whitworth, J., Rattenberry, E., Vialard, L., Kilby, G., Kumar, A., Izatt, L., Lalloo, F. I., Brennan, P., Cook, J. A., et al. (2012) · Clinical Endocrinology · doi:10.1111/cen.12074 · Cited by 73 · see citing works

Genetics of pheochromocytomas and paragangliomas

Opocher, G., & Schiavi, F. (2010) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2010.05.001 · Cited by 71 · see citing works

Inhibition of HIF Prolyl Hydroxylase-2 Blocks Tumor Growth in Mice through the Antiproliferative Activity of TGFβ

Ameln, A. K., Muschter, A., Mamlouk, S., Kalucka, J. M., Prade, I., Franke, K., Rezaei, M., Poitz, D. M., Breier, G., & Wielockx, B. (2011) · Cancer Research · doi:10.1158/0008-5472.can-10-3838 · Cited by 70 · see citing works

PHD2: from hypoxia regulation to disease progression

Wielockx, B., & Meneses, A. (2016) · Hypoxia · doi:10.2147/hp.s53576 · Cited by 70 · see citing works

Pheochromocytoma and Paraganglioma

Pacák, K., & Wimalawansa, S. J. (2015) · Endocrine Practice · doi:10.4158/ep14481.ra · Cited by 70 · see citing works

Whole‐exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT 2 D as a recurrently mutated gene

Juhlin, C. C., Stenman, A., Haglund, F., Clark, V. E., Brown, T. C., Baranoski, J. F., Bilgüvar, K., Goh, G., Welander, J., Svahn, F., et al. (2015) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22267 · Cited by 67 · see citing works

Adrenal Medullary Hyperplasia Is a Precursor Lesion for Pheochromocytoma in MEN2 Syndrome

Korpershoek, E., Petri, B., Post, E., van Eijck, C. H. J., Oldenburg, R. A., Belt, E. J. T., de Herder, W. W., de Krijger, R. R., & Dinjens, W. N. M. (2014) · Neoplasia · doi:10.1016/j.neo.2014.09.002 · Cited by 68 · see citing works

GEP- NETS UPDATE: Genetics of neuroendocrine tumors

Crona, J., & Skogseid, B. M. (2016) · European Journal of Endocrinology · doi:10.1530/eje-15-0972 · Cited by 66 · see citing works

Pheochromocytoma/paraganglioma: recent updates in genetics, biochemistry, immunohistochemistry, metabolomics, imaging and therapeutic options

Antonio, K. L., Valdez, M. M. N., MERCADO-ASIS, L. B., Taïeb, D., & Pacák, K. (2020) · Gland Surgery · doi:10.21037/gs.2019.10.25 · Cited by 65 · see citing works

Rethinking pheochromocytomas and paragangliomas from a genomic perspective

Castro‐Vega, L. J., Lussey‐Lepoutre, C., Gimenez‐Roqueplo, A., & Favier, J. (2015) · Oncogene · doi:10.1038/onc.2015.172 · Cited by 64 · see citing works

JAK2 unmutated erythrocytosis: current diagnostic approach and therapeutic views

Gangat, N., Szuber, N., Pardanani, A. D., & Tefferi, A. (2021) · Leukemia · doi:10.1038/s41375-021-01290-6 · Cited by 64 · see citing works

MANAGEMENT OF ENDOCRINE DISEASE: Clinical management of paragangliomas

Corssmit, E. P. M., & Romijn, J. A. (2014) · European Journal of Endocrinology · doi:10.1530/eje-14-0396 · Cited by 61 · see citing works

Signaling Pathways in Pheochromocytomas and Paragangliomas: Prospects for Future Therapies

Nölting, S., & Grossman, A. B. (2012) · Endocrine Pathology · doi:10.1007/s12022-012-9199-6 · Cited by 61 · see citing works

Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis

Korpershoek, E., Koffy, D., Eussen, B. H. J., Oudijk, L., Papathomas, T. G., van Nederveen, F. H., Belt, E. J. T., Franssen, G. J. H., Restuccia, D. F., Krol, N. M. G., et al. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-2592 · Cited by 60 · see citing works

Prolyl Hydroxylase Domain Protein 2 (PHD2) Binds a Pro-Xaa-Leu-Glu Motif, Linking It to the Heat Shock Protein 90 Pathway

Song, D., Li, L.-S., Heaton-Johnson, K. J., Arsenault, P. R., Master, S. R., & Lee, F. S. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.440552 · Cited by 58 · see citing works

Pheochromocytoma: A Genetic And Diagnostic Update

MERCADO-ASIS, L. B., Wolf, K. I., Jochmanová, I., & Taïeb, D. (2017) · Endocrine Practice · doi:10.4158/ep-2017-0057 · Cited by 58 · see citing works

First Report of Bilateral Pheochromocytoma in the Clinical Spectrum ofHIF2A-Related Polycythemia-Paraganglioma Syndrome

Taïeb, D., Yang, C., Delenne, B., Zhuang, Z., Barlier, A., Sebag, F. A., & Pacák, K. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-1217 · Cited by 56 · 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

A Gain-of-Function Mutation in <i>EPO</i> in Familial Erythrocytosis

Zmajkovic, J., Lundberg, P., Nienhold, R., Torgersen, M. L., Sundan, A., Waage, A., & Skoda, R. C. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1709064 · Cited by 56 · see citing works

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

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

Abstract 5011: Potential tumor suppressor role of PHD2 : functional study of mutations identified in germline DNA of patients with congenital polycythemia with or without paraganglioma

Gardie, B., Ladroue, C., Carcenac, R., Gad, S., Barrois, M., Bombled, J., Hermine, O., Leporrier, M., Baruchel, A., Kiladjian, J., et al. (2010) · Cancer Research · doi:10.1158/1538-7445.am10-5011

Disturbance in the HIF-1α pathway associated with erythrocytosis: Further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

Al-Sheikh, M., Moradkhani, K., Lopez, M., Wajcman, H., & Préhu, C. (2008) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2007.07.017 · Cited by 50 · see citing works

Erythrocytosis-inducing PHD2 mutations implicate biological role for N-terminal prolyl-hydroxylation in HIF1α oxygen-dependent degradation domain

Taber, C. C., He, W., Gasmi-Seabrook, G. M. C., Hubert, M., Ferens, F. G., Ikura, M., Lee, J. D., & Ohh, M. (2025) · eLife · doi:10.7554/elife.107121.3

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

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

Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

Albiero, E., Ruggeri, M., Fortuna, S., Finotto, S., Bernardi, M., Madeo, D., & Rodeghiero, F. (2012) · Haematologica · doi:10.3324/haematol.2010.039545 · Cited by 28 · see citing works