The role of VHL in the development of von Hippel-Lindau disease and erythrocytosis

Hudler, Petra (avtor), Urbančič, Mojca (avtor)

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.

• Jezik: Angleški jezik
• Ključne besede: Chuvash polycythemia, genetic variation, von Hippel-Lindau disease, VHL, VHL disease, erythrocytosis, pheochromocytoma, renal cell carcinoma, retinal hemangioblastoma, hemangioblastoma
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.02 - Pregledni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2022
• Št. strani: 27 str.
• Številčenje: Vol. 13, iss. 2, art. 362
• PID: 20.500.12556/RUL-137290
• UDK: 617.7
• ISSN pri članku: 2073-4425
• DOI: 10.3390/genes13020362
• COBISS.SI-ID: 98012931
• Datum objave v RUL: 09.06.2022

Gradivo je del revije

• Naslov: Genes
• Skrajšan naslov: Genes
• Založnik: Multidisciplinary Digital Publishing Institute (MDPI)
• ISSN: 2073-4425
• COBISS.SI-ID: 523100185

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
• Začetek licenciranja: 17.02.2022

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: čuvaška policitemija, genetske variacije, von Hippel-Lindaujeva bolezen

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: L3-9279
• Naslov: Genetska osnova eritrocitoz v Sloveniji