The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis
| Autor: | Petra Hudler, Mojca Urbancic |
|---|---|
| Rok vydání: | 2022 |
| Předmět: |
renal cell carcinoma
von Hippel-Lindau Disease hemangioblastoma endocrine system diseases Genotype VHL disease Polycythemia urologic and male genital diseases udc:617.7 von Hippel-Lindaujeva bolezen VHL erythrocytosis Genetics Humans neoplasms Genetics (clinical) Chuvash polycythemia čuvaška policitemija von Hippel-Lindau disease pheochromocytoma female genital diseases and pregnancy complications Von Hippel-Lindau Tumor Suppressor Protein genetic variation Mutation retinal hemangioblastoma genetske variacije |
| Zdroj: | Genes, vol. 13, no. 2, 362, 2022. |
| ISSN: | 2073-4425 |
| Popis: | Von Hippel-Lindau disease (VHL disease or VHL syndrome) is a familial multisystem neoplastic syndrome stemming from germline disease-associated variants of the VHL 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 VHL variants might better predict the prognosis and optimize management of the patient. |
| Databáze: | OpenAIRE |
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