Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease

Abstract Around 95% of patients with clinical features that meet the diagnostic criteria for von Hippel–Lindau disease (VHL) have a detectable inactivating germline variant in VHL. The VHL protein (pVHL) functions as part of the E3 ubiquitin ligase complex comprising pVHL, elongin C, elongin B, cull...

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Veröffentlicht in:	Human molecular genetics 2022-08, Vol.31 (16), p.2728-2737
Hauptverfasser:	Andreou, Avgi, Yngvadottir, Bryndis, Bassaganyas, Laia, Clark, Graeme, Martin, Ezequiel, Whitworth, James, Cornish, Alex J, Houlston, Richard S, Rich, Philip, Egan, Catherine, Hodgson, Shirley V, Warren, Anne Y, Snape, Katie, Maher, Eamonn R
Format:	Artikel
Sprache:	eng
Schlagworte:	Carcinoma, Renal Cell - genetics Elongin - genetics Humans Hypoxia Kidney Neoplasms - genetics Original Transcription Factors - genetics Ubiquitin-Protein Ligases von Hippel-Lindau Disease - genetics Von Hippel-Lindau Tumor Suppressor Protein - genetics
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