20.500.12556/RUL-137290 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 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. Chuvash polycythemia genetic variation von Hippel-Lindau disease VHL VHL disease erythrocytosis pheochromocytoma renal cell carcinoma retinal hemangioblastoma hemangioblastoma čuvaška policitemija genetske variacije von Hippel-Lindaujeva bolezen true false true Angleški jezik Slovenski jezik Članek v reviji 2022-06-09 12:30:28 2022-06-09 12:30:30 2022-09-15 04:14:54 0000-00-00 00:00:00 2022 0 0 27 str. iss. 2, art. 362 Vol. 13 2022 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 617.7 2073-4425 10.3390/genes13020362 98012931 genes-13-00362.pdf genes-13-00362.pdf 1 373C25985F66D50306E32C4694DA1F1D 40199dbd585b0e9b42f11f86a1ed036a9b3bc3eb0ee3ab963c425d030c830977 38197404-e7df-11ec-8aca-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=157205 https://www.mdpi.com/2073-4425/13/2/362 1 05ff8fd8-e7df-11ec-8aca-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=157204 Medicinska fakulteta 0 0 0