Author/Editor		Hudler, Petra; Urbančič, Mojca
Title		The role of VHL in the development of von Hippel-Lindau disease and erythrocytosis
Type		članek
Vol. and No.		Letnik 13, št. 2
Publication year		2022
Volume		str. [1]-27
ISSN		2073-4425 - Genes
Language		eng
Abstract		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.
Keywords		Čuvaška policitemija genetske variacije von Hipel-Lindaujeva bolezen Chuvash polycythemia genetic variation von Hippel-Lindau disease