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Material Type: Artigo
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Comprehensive molecular characterization of mitochondrial genomes in human cancersYuan, Yuan ; Ju, Young Seok ; Kim, Youngwook ; Li, Jun ; Wang, Yumeng ; Yoon, Christopher J ; Yang, Yang ; Martincorena, Inigo ; Creighton, Chad J ; Weinstein, John N ; Xu, Yanxun ; Han, Leng ; Kim, Hyung-Lae ; Nakagawa, Hidewaki ; Park, Keunchil ; Campbell, Peter J ; Liang, HanNature genetics, 2020-03, Vol.52 (3), p.342-352 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial diseaseElander, Johanna ; McCormick, Elizabeth M. ; Värendh, Maria ; Stenfeldt, Karin ; Ganetzky, Rebecca D. ; Goldstein, Amy ; Zolkipli-Cunningham, Zarazuela ; MacMullen, Laura E. ; Xiao, Rui ; Falk, Marni J. ; Ehinger, Johannes K.Molecular genetics and metabolism, 2022-11, Vol.137 (3), p.230-238 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Human studies of mitochondrial biology demonstrate an overall lack of binary sex differences: A multivariate meta‐analysisJunker, Alex ; Wang, Jennifer ; Gouspillou, Gilles ; Ehinger, Johannes K. ; Elmér, Eskil ; Sjövall, Fredrik ; Fisher‐Wellman, Kelsey H. ; Neufer, P. Darrell ; Molina, Anthony J. A. ; Ferrucci, Luigi ; Picard, MartinThe FASEB journal, 2022-02, Vol.36 (2), p.e22146-n/a [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Characterization of the Mitochondrial Genetic Landscape in Abdominal Aortic AneurysmVats, Sakshi ; Sundquist, Kristina ; Li, Yanni ; Wang, Xiao ; Hong, Mun-Gwan ; Sundquist, Jan ; Zarrouk, Moncef ; Gottsäter, Anders ; Memon, Ashfaque AJournal of the American Heart Association, 2023-04, Vol.12 (8), p.e029248-e029248 [Periódico revisado por pares]England: John Wiley and Sons IncTexto completo disponível |
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Material Type: Artigo
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A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in micePurhonen, Janne ; Grigorjev, Vladislav ; Ekiert, Robert ; Aho, Noora ; Rajendran, Jayasimman ; Pietras, Rafał ; Truvé, Katarina ; Wikström, Mårten ; Sharma, Vivek ; Osyczka, Artur ; Fellman, Vineta ; Kallijärvi, JukkaNature communications, 2020-01, Vol.11 (1), p.322-322, Article 322 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancerLi, Yanni ; Sundquist, Kristina ; Vats, Sakshi ; Hong, Mun-Gwan ; Wang, Xiao ; Chen, Yilun ; Hedelius, Anna ; Saal, Lao H ; Sundquist, Jan ; Memon, Ashfaque AJournal of translational medicine, 2023-10, Vol.21 (1), p.696-696, Article 696 [Periódico revisado por pares]London: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Mitochondrial dysfunction in adult midbrain dopamine neurons triggers an early immune responseFilograna, Roberta ; Lee, Seungmin ; Tiklová, Katarína ; Mennuni, Mara ; Jonsson, Viktor ; Ringnér, Markus ; Gillberg, Linda ; Sopova, Elena ; Shupliakov, Oleg ; Koolmeister, Camilla ; Olson, Lars ; Perlmann, Thomas ; Larsson, Nils-Göran Wiesner, Rudolf J.PLoS genetics, 2021-09, Vol.17 (9), p.e1009822-e1009822 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Diagnostic potential of circulating cell‐free nuclear and mitochondrial DNA for several cancer types and nonmalignant diseases: A study on suspected cancer patientsSundquist, Kristina ; Sundquist, Jan ; Hedelius, Anna ; Memon, Ashfaque A.Molecular carcinogenesis, 2020-12, Vol.59 (12), p.1362-1370 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Comprehensive Association Testing of Common Mitochondrial DNA Variation in Metabolic DiseaseSaxena, Richa ; de Bakker, Paul I.W. ; Singer, Karyn ; Mootha, Vamsi ; Burtt, Noël ; Hirschhorn, Joel N. ; Gaudet, Daniel ; Isomaa, Bo ; Daly, Mark J. ; Groop, Leif ; Ardlie, Kristin G. ; Altshuler, DavidAmerican journal of human genetics, 2006-07, Vol.79 (1), p.54-61 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Thymidine kinase 2 deficiency-induced mtDNA depletion in mouse liver leads to defect β-oxidationZhou, Xiaoshan ; Kannisto, Kristina ; Curbo, Sophie ; von Döbeln, Ulrika ; Hultenby, Kjell ; Isetun, Sindra ; Gåfvels, Mats ; Karlsson, Anna Samuels, David C.PloS one, 2013-03, Vol.8 (3), p.e58843-e58843 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |