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A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand.
Mikhailova AG, Mikhailova AA, Ushakova K, Tretiakov EO, Iliushchenko D, Shamansky V, Lobanova V, Kozenkov I, Efimenko B, Yurchenko AA, Kozenkova E, Zdobnov EM, Makeev V, Yurov V, Tanaka M, Gostimskaya I, Fleischmann Z, Annis S, Franco M, Wasko K, Denisov S, Kunz WS, Knorre D, Mazunin I, Nikolaev S, Fellay J, Reymond A, Khrapko K, Gunbin K, Popadin K. Mikhailova AG, et al. Among authors: franco m. Nucleic Acids Res. 2022 Oct 14;50(18):10264-10277. doi: 10.1093/nar/gkac779. Nucleic Acids Res. 2022. PMID: 36130228 Free PMC article.
Are some mutations more equal than others?
Cote-L'Heureux A, Maithania YNK, Franco M, Khrapko K. Cote-L'Heureux A, et al. Among authors: franco m. Elife. 2023 Apr 19;12:e87194. doi: 10.7554/eLife.87194. Elife. 2023. PMID: 37074148 Free PMC article.
Somatic mtDNA mutations at intermediate levels of heteroplasmy are a source of functional heterogeneity among primary leukemic cells.
McCastlain K, Welsh C, Ni Y, Ding L, Chang TC, Autry RJ, Sejdiu BI, Pan Q, Franco M, Chen W, Wu H, Gonzalez-Pena V, Schreiner P, Arunachalam S, Joo JH, Brady S, Zhang J, Gawad C, Evans WE, Babu MM, Khrapko K, Yu J, Wu G, Pounds S, Kundu M. McCastlain K, et al. Among authors: franco m. Sci Adv. 2025 Sep 12;11(37):eadt3873. doi: 10.1126/sciadv.adt3873. Epub 2025 Sep 10. Sci Adv. 2025. PMID: 40929251 Free PMC article.
Somatic mitochondrial DNA mutations are a source of heterogeneity among primary leukemic cells.
McCastlain K, Welsh C, Ni Y, Ding L, Franco M, Autry R, Sejdiu B, Chang TC, Chen W, Wu H, Pan Q, Gonzalez-Pena V, Schreiner P, Arunachalam S, Joo J, Li B, Shen S, Brady S, Zhang J, Gawad C, Evans W, Babu MM, Khrapko K, Wu G, Yu J, Pounds S, Kundu M. McCastlain K, et al. Among authors: franco m. medRxiv [Preprint]. 2024 Sep 27:2024.09.26.24314381. doi: 10.1101/2024.09.26.24314381. medRxiv. 2024. PMID: 39398996 Free PMC article. Preprint.
2,683 results