The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma
Open accessAbstract
Prolyl hydroxylase domain (PHD) proteins play a major role in regulating the hypoxia-inducible factor (HIF) that induces expression of genes involved in angiogenesis, erythropoiesis, and cell metabolism, proliferation, and survival. Germ-line mutations in the prolyl hydroxylase domain 2 gene (PHD2) have been reported in patients with familial erythrocytosis but not in association with tumors. We describe a patient with erythrocytosis and recurrent paraganglioma who carries a newly discovered PHD2 mutation. This mutation affects PHD2 function and stabilizes HIF-alpha proteins. In addition, we demonstrate loss of heterozygosity of PHD2 in the tumor, suggesting that PHD2 could be a tumor-suppressor gene.
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In the citing paper
“Furthermore, H374R was associated with paraganglioma development”
From Regulation of erythropoiesis by hypoxia-inducible factors (2013) · cites this paper as [161]
In the citing paper
“Patients, who were heterozygous for these mutations were characterized by increased rbc values in the presence of inappropriately normal serum EPO levels. 157–162”
From Regulation of erythropoiesis by hypoxia-inducible factors (2013) · cites this paper as [161]
In the citing paper
“indicating that PHD2 may functions as a tumor suppressor.”
From Regulation of erythropoiesis by hypoxia-inducible factors (2013) · cites this paper as [161]
Citations
Cites
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Self-citationGerm-Line Mutations in Nonsyndromic Pheochromocytoma
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Iron-Overload–Related Disease inHFEHereditary Hemochromatosis
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Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
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Cited by
Sorted by citations
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
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
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
Metadata
- Authors
- Ladroue, C., Carcenac, R., Leporrier, M., Gad, S., Le Hello, C., Galateau-Salle, F., Feunteun, J., Pouysségur, J., Richard, S., & Gardie, B.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2008-12-18
- Volume
- 359
- Issue
- 25
- Pages
- 2685-2692
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2169448152
- Cited by
- 323
- References
- 25
- Citations by year
- 2026: 10 · 2025: 10 · 2024: 8 · 2023: 10 · 2022: 7 · 2021: 17 · 2020: 11 · 2019: 17 · 2018: 15 · 2017: 21 · 2016: 29 · 2015: 16 · 2014: 33 · 2013: 31 · 2012: 20
- FWCI
- 23.37
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer, Hypoxia, and Metabolism
- Health Sciences › Medicine › Hematology › Erythropoietin and Anemia Treatment
- Keywords
- prolyl hydroxylase domain 2, congenital erythrocytosis, paraganglioma, hypoxia-inducible factor, loss of heterozygosity, tumor suppressor, germline mutations, familial erythrocytosis
- MeSH terms
- Hemochromatosis Protein, Adult, Female, Homozygote, Humans, Male, Mediastinal Neoplasms, Membrane Proteins, Paraganglioma, Pedigree, Polycythemia, Procollagen-Proline Dioxygenase, Histocompatibility Antigens Class I, Neoplasms, Second Primary, Sequence Analysis, DNA, Germ-Line Mutation, Loss of Heterozygosity, Hypoxia-Inducible Factor-Proline Dioxygenases
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