Erythrocytosis and the Chuvash von Hippel-Lindau mutation
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Chuvash polycythemia is caused by a homozygous mutation in VHL at codon 200, R200W.
“It is caused by a homozygous mutation in the VHL tumor suppressor at codon 200, R200W”
From Regulation of erythropoiesis by hypoxia-inducible factors (2013) · cites this paper as [128]
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Cites
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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
Mutations in the VHL gene in sporadic apparently congenital polycythemia
Pastore, Y. D., Jelinek, J., Ang, S., Guan, Y., Liu, E., Jedlickova, K., Krishnamurti, L., & Prchal, J. T. (2003) · Blood · doi:10.1182/blood-2002-06-1843 · Cited by 136 · see citing works
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Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry
Percy, M. J., McMullin, M. F., Jowitt, S. N., Potter, M., Treacy, M., Watson, W. H., & Lappin, T. R. J. (2003) · Blood · doi:10.1182/blood-2002-10-3246 · Cited by 90 · see citing works
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Cited by
Sorted by citations
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
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-citationThe complete evaluation of erythrocytosis: congenital and acquired
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Hypoxia. 5. Hypoxia and hematopoiesis
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Oxygen Sensing: Recent Insights from Idiopathic Erythrocytosis
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Self-citationRetrospective Study of High Hemoglobin Levels in 56 Young Adults
Desnoyers, A., Pavic, M., Houle, P.-M., Castilloux, J., Beauregard, P., Delisle, L., LeBlanc, R., Dufresne, J., Boisjoly, J.-A., & Éthier, V. (2018) · Journal of Hematology · doi:10.14740/jh375w · Cited by 6 · see citing works
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
則夫, 小. (2009) · 臨床血液 · doi:10.11406/rinketsu.50.1589
- Authors
- Percy, M. J., Beard, M. E. J., Carter, C., & Thein, S. L.
- Affiliations
- Belfast City Hospital (GB)
- Christchurch Hospital (NZ)
- Huddersfield Royal Infirmary (GB)
- King's College Hospital (GB)
- ORCID
- Thein, Swee Lay
- Venue
- British Journal of Haematology
- Publisher
- Wiley
- Published
- 2003-10
- Volume
- 123
- Issue
- 2
- Pages
- 371-372
- ISSN
- 0007-1048 (ISSN-L)
- 1365-2141
- OpenAlex
- W1998160968
- Cited by
- 8
- References
- 5
- Citations by year
- 2018: 1 · 2013: 2
- FWCI
- 0.30
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- British Journal of Haematology (publishedVersion)
- PubMed (publishedVersion)
- Research Portal (King's College London) (submittedVersion)
- Topics
- Health Sciences › Medicine › Oncology › Ear and Head Tumors
- Health Sciences › Medicine › Hematology › Erythropoietin and Anemia Treatment
- Health Sciences › Medicine › Genetics › Myeloproliferative Neoplasms: Diagnosis and Treatment
- Keywords
- erythrocytosis, von Hippel-Lindau disease, VHL mutation, Chuvash people, hereditary erythrocytosis, somatic mutations
- MeSH terms
- Female, Follow-Up Studies, Humans, Infant, Ligases, Mutation, Polycythemia, Tumor Suppressor Proteins, Ubiquitin-Protein Ligases, Von Hippel-Lindau Tumor Suppressor Protein
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