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Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
Bruinsma FJ, Dowty JG, Win AK, Goddard LC, Agrawal P, Attina' D, Bissada N, De Luise M, Eisen DB, Furuya M, Gasparre G, Genuardi M, Gerdes AM, Hansen TVO, Houweling AC, Johannesma PC, Lencastre A, Lim D, Lindor NM, Luzzi V, Lynch M, Maffé A, Menko FH, Michels G, Pulido JS, Ryu JH, Sattler EC, Steinlein OK, Tomassetti S, Tucker K, Turchetti D, van de Beek I, van Riel L, van Steensel M, Zenone T, Zompatori M, Walsh J, Bondavalli D, Maher ER, Winship IM; Genetic Susceptibility Working Group I-CONFIRM. Bruinsma FJ, et al. Among authors: de luise m. J Med Genet. 2023 Apr;60(4):317-326. doi: 10.1136/jmg-2022-109104. Epub 2023 Feb 27. J Med Genet. 2023. PMID: 36849229 Review.
Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome.
De Luise M, Iommarini L, Marchio L, Tedesco G, Coadă CA, Repaci A, Turchetti D, Tardio ML, Salfi N, Pagotto U, Kurelac I, Porcelli AM, Gasparre G. De Luise M, et al. Cells. 2021 Oct 28;10(11):2920. doi: 10.3390/cells10112920. Cells. 2021. PMID: 34831144 Free PMC article.
The α-ketoglutarate dehydrogenase complex in cancer metabolic plasticity.
Vatrinet R, Leone G, De Luise M, Girolimetti G, Vidone M, Gasparre G, Porcelli AM. Vatrinet R, et al. Among authors: de luise m. Cancer Metab. 2017 Feb 2;5:3. doi: 10.1186/s40170-017-0165-0. eCollection 2017. Cancer Metab. 2017. PMID: 28184304 Free PMC article. Review.
Targeting respiratory complex I to prevent the Warburg effect.
Vatrinet R, Iommarini L, Kurelac I, De Luise M, Gasparre G, Porcelli AM. Vatrinet R, et al. Among authors: de luise m. Int J Biochem Cell Biol. 2015 Jun;63:41-5. doi: 10.1016/j.biocel.2015.01.017. Epub 2015 Feb 7. Int J Biochem Cell Biol. 2015. PMID: 25668477 Review.
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors.
Tsybrovskyy O, De Luise M, de Biase D, Caporali L, Fiorini C, Gasparre G, Carelli V, Hackl D, Imamovic L, Haim S, Sobrinho-Simões M, Tallini G. Tsybrovskyy O, et al. Among authors: de luise m. J Pathol Clin Res. 2022 Mar;8(2):155-168. doi: 10.1002/cjp2.247. Epub 2021 Nov 17. J Pathol Clin Res. 2022. PMID: 34792302 Free PMC article.
60 results