The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis
Von Hippel-Lindau disease (VHL disease or VHL syndrome) is a familial multisystem neoplastic syndrome stemming from germline disease-associated variants of the <i>VHL</i> tumor suppressor gene on chromosome 3. VHL is involved, through the EPO-VHL-HIF signaling axis, in oxygen sensing and...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-02-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/2/362 |
| Summary: | Von Hippel-Lindau disease (VHL disease or VHL syndrome) is a familial multisystem neoplastic syndrome stemming from germline disease-associated variants of the <i>VHL</i> tumor suppressor gene on chromosome 3. VHL is involved, through the EPO-VHL-HIF signaling axis, in oxygen sensing and adaptive response to hypoxia, as well as in numerous HIF-independent pathways. The diverse roles of VHL confirm its implication in several crucial cellular processes. VHL variations have been associated with the development of VHL disease and erythrocytosis. The association between genotypes and phenotypes still remains ambiguous for the majority of mutations. It appears that there is a distinction between erythrocytosis-causing VHL variations and VHL variations causing VHL disease with tumor development. Understanding the pathogenic effects of <i>VHL</i> variants might better predict the prognosis and optimize management of the patient. |
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| ISSN: | 2073-4425 |