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A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1α in a Von Hippel-Lindau Renal Oncocytoma

The Von Hippel-Lindau (VHL) syndrome has been rarely associated with renal oncocytomas, and tumors usually show HIF1α chronic stabilization. By contrast, oncocytomas mainly associated with respiratory chain (RC) defects due to severe mitochondrial DNA (mtDNA) mutations are incapable of stabilizing H...

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Detalles Bibliográficos
Autores principales: De Luise, Monica, Guarnieri, Vito, Ceccarelli, Claudio, D'Agruma, Leonardo, Porcelli, Anna Maria, Gasparre, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343171/
https://www.ncbi.nlm.nih.gov/pubmed/30728892
http://dx.doi.org/10.1155/2019/8069583