PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma

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

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Hypoxia signalling in cancer and approaches to enforce tumour regression

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Germ-Line Mutations in Nonsyndromic Pheochromocytoma

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

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

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Iron-Overload–Related Disease inHFEHereditary Hemochromatosis

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Life with Oxygen

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

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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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Clinical observation of a patient with TMEM127 and EGLN1 gene variants, pheochromocytoma and pancreatic tumor

Yukina, M. Y., Mustafina, V. R., Vasilyev, E., Troshina, E. A., Platonova, N. M., & Beltsevich, D. G. (2021) · Meditsinskiy sovet = Medical Council · doi:10.21518/2079-701x-2021-7-150-154

家族性赤血球増加症における低酸素誘導因子(HIF)およびHIF制御分子異常

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Developmental role of PHD2 in the pathogenesis of pseudohypoxic pheochromocytoma

Eckardt, L., Prange‐Barczynska, M., Hodson, E. J., Fielding, J. W., Cheng, X., Lima, J. D. C. C., Kurlekar, S., Douglas, G., Ratcliffe, P. J., & Bishop, T. (2022) · Endocrine Abstracts · doi:10.1530/endoabs.86.ja3

Paragangliomas

Miettinen, M. (2016) · Cambridge University Press eBooks · doi:10.1017/9781107707504.027

Myeloproliferative Neoplasms (MPNs)

Siegele, B. J. (2024) · Cambridge University Press eBooks · doi:10.1017/9781009105002.012

Familial and Syndrome-Related Pheochromocytoma and Paraganglioma

(2024) · American Registry of PathologyArlington, Virginia eBooks · doi:10.55418/9781933477473-10

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

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

Taber, C. C., He, W., Gasmi-Seabrook, G. M. C., Hubert, M., Ferens, F. G., Ikura, M., Lee, J. E., & Ohh, M. (2025) · eLife · doi:10.7554/elife.107121.1

EGLN1-positive familial erythrocytosis: a rare variant with an unusually aggressive clinical course

Maule, L., Coe, B., & Sawhney, R. (2025) · Journal of Hematopathology · doi:10.1007/s12308-025-00645-7

Pheochromocytoma and paraganglioma syndromes in the genomic era

Kuo, M. J. M., & Pacák, K. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00242-9

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

Taber, C. C., He, W., Gasmi-Seabrook, G. M. C., Hubert, M., Ferens, F. G., Ikura, M., Lee, J. E., & Ohh, M. (2025) · eLife · doi:10.7554/elife.107121.2

Assessment of HIF2α mutational pathogenicity using microscale thermophoresis

Ferens, F. G., Taber, C. C., Eo, J. J., & Ohh, M. (2026) · Biology Methods and Protocols · doi:10.1093/biomethods/bpag001

Rôle des facteurs de transcription HIF (Hypoxia Inducible Factor) dans le maintien à long terme des cellules souches hématopoïétiques humaines chez la souris immunodéficiente

Rouault-Pierre, K. (2010) · theses.fr (ABES) · doi:10.70675/d19021d9z37c5z4948zb727z5f042b13da9d

Impact des mutations SDH sur la réponse antitumorale et identification de nouveaux biomarqueurs

Lamy, C. (2021) · theses.fr (ABES) · doi:10.70675/036f6787z50daz43e6zbeafzbcebfb700048

Congenital Erythrocytosis

Tashi, T., & Prchal, J. T. (2026) · Springer eBooks · doi:10.1007/978-3-032-13858-3_68

Persistent Erythrocytosis in a Dog With a Spinal Sclerosing Paraganglioma

Neal, S. V., Sommer, S. L., Golconda, S., Hostnik, E. T., Sakacs, R., Park, J., Potts, A., da Costa, R. C., Premanandan, C., Corps, K., et al. (2026) · Veterinary Clinical Pathology · doi:10.1111/vcp.70112

Novel EGLN1 variants identified in patients with erythrocytosis: a functional studyPreprint

Kristan, A., Fekonja, S., & Debeljak, N. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.12.731943

Tumor Biology of Vestibular Schwannomas

Podury, A., Jiam, N. T., & Welling, D. B. (2026) · Springer eBooks · doi:10.1007/978-3-032-18264-7_10

Belzutifan, a hypoxia-inducible factor 2-alpha inhibitor, for patients with advanced pheochromocytoma and paraganglioma

Jiménez, C., Waguespack, S. G., Kaplan, J., Habra, M. A., & Varghese, J. M. (2026) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgag324

Familial erythrocytosis associated with an EGLN1 (PHD2) variant of uncertain significance with emerging evidence of pathogenicity

Ananthaneni, A., Maddox, K., Sam, R. M., & Ramadas, P. (2026) · BMJ Case Reports · doi:10.1136/bcr-2026-272167

Pacak-Zhuang syndrome with EPAS1 p.Pro531Leu somatic variant: one case report and literature review

Xiazhe, L., Song, S., Wang, L., Zhong, Z., Qi, Y., & Gong, Y. (2026) · Hematology · doi:10.1080/16078454.2026.2749300

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

Charting the Genetic Landscape and Clonal Architectures of Pheochromocytoma

Crona, J. (2014) · KTH Publication Database DiVA (KTH Royal Institute of Technology)

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

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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