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Article

The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization.

Human molecular genetics - 15 Mar 2010

Porcelli Anna Maria, Ghelli Anna, Ceccarelli Claudio, Lang Martin, Cenacchi Giovanna, Capristo Mariantonietta, Pennisi Lucia Fiammetta, Morra Isabella, Ciccarelli Enrica, Melcarne Antonio, Bartoletti-Stella Anna, Salfi Nunzio, Tallini Giovanni, Martinuzzi Andrea, Carelli Valerio, Attimonelli Marcella, Rugolo Michela, Romeo Giovanni, Gasparre Giuseppe

Abstract excerpt

We previously showed that disruptive complex I mutations in mitochondrial DNA are the main genetic hallmark of oncocytic tumors of the thyroid and kidney. We here report a high frequency of homoplasmic disruptive mutations in a large panel of oncocytic pituitary and head-and-neck tumors. The presence of such mutations implicates disassembly of respiratory complex I in vivo which in turn contributes to the...

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PMID: 20028790
DOI: 10.1093/hmg/ddp566

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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