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

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

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

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

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

Iron-Overload–Related Disease inHFEHereditary Hemochromatosis

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Life with Oxygen

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

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

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

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Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

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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

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 370

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

A Gain-of-Function Mutation in the HIF2A 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

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

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 248

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

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 205

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

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

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 127

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

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

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

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

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 & Metabolism · doi:10.1210/jc.2014-1498 · Cited by 2,827

Hypoxia and inflammation

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

Regulation of erythropoiesis by hypoxia-inducible factors

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

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 545

Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity

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

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

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

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