Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis
| Autor: | Alexander P.A. Stegmann, Bradleigh E. Navalsky, Albertine E. Donker, Richard van Wijk, Kai Peng, Wei Guan, Frank S. Lee, Daisheng Song, Margje Sinnema, Johanna W. H. Janssen |
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| Přispěvatelé: | MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA Pat Cytologie (9), RS: GROW - R4 - Reproductive and Perinatal Medicine |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Immunology Transcription factor complex HYDROXYLASE DOMAIN PROTEIN-2 medicine.disease_cause Biochemistry PATHWAY 03 medical and health sciences 0302 clinical medicine HYPOXIA-INDUCIBLE FACTORS medicine Letter to Blood Gene Loss function Zinc finger Mutation EGLN1 Gene biology Chemistry Cell Biology Hematology Molecular biology FAMILY PHD2 MUTATION 030104 developmental biology Hypoxia-inducible factors 030220 oncology & carcinogenesis biology.protein EGLN1 |
| Zdroj: | Blood, 132(13), 1455-1458. The American Society of Hematology |
| ISSN: | 1528-0020 0006-4971 |
| DOI: | 10.1182/blood-2018-06-854711 |
| Popis: | TO THE EDITOR: Mutations in the EGLN1 (also known as PHD2 ) gene are associated with erythrocytosis.[1][1] The encoded protein, PHD2, is a central cellular oxygen sensor that hydroxylates the α subunit of the hypoxia inducible factor (HIF) transcription factor complex, marking it for degradation.[ |
| Databáze: | OpenAIRE |
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