Хайлтын үр дүнгүүд - Gomez-Duran, Aurora

Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases -н Chinnery, Patrick F., Gomez-Duran, Aurora

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Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations -н Wei, Wei, Gomez-Duran, Aurora, Hudson, Gavin, Chinnery, Patrick F.

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Correction: Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations -н Wei, Wei, Gomez-Duran, Aurora, Hudson, Gavin, Chinnery, Patrick F.

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Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases -н Hudson, Gavin, Gomez-Duran, Aurora, Wilson, Ian J., Chinnery, Patrick F.

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Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues -н Bicci, Iacopo, Calabrese, Claudia, Golder, Zoe J, Gomez-Duran, Aurora, Chinnery, Patrick F

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Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency -н Boczonadi, Veronika, Smith, Paul M., Pyle, Angela, Gomez-Duran, Aurora, Schara, Ulrike, Tulinius, Mar, Chinnery, Patrick F., Horvath, Rita

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Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy -н Giunta, Michele, Edvardson, Shimon, Xu, Yaobo, Schuelke, Markus, Gomez-Duran, Aurora, Boczonadi, Veronika, Elpeleg, Orly, Müller, Juliane S., Horvath, Rita

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An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank -н Yonova-Doing, Ekaterina, Calabrese, Claudia, Gomez-Duran, Aurora, Schon, Katherine, Wei, Wei, Karthikeyan, Savita, Chinnery, Patrick F., Howson, Joanna M. M.

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Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro -н Pezet, Mikael G., Gomez-Duran, Aurora, Klimm, Florian, Aryaman, Juvid, Burr, Stephen, Wei, Wei, Saitou, Mitinori, Prudent, Julien, Chinnery, Patrick F.

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Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT -н Neeve, Vivienne C.M., Pyle, Angela, Boczonadi, Veronika, Gomez-Duran, Aurora, Griffin, Helen, Santibanez-Koref, Mauro, Gaiser, Ulrike, Bauer, Peter, Tzschach, Andreas, Chinnery, Patrick F., Horvath, Rita

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The mitochondrial protein CHCHD2 primes the differentiation potential of human induced pluripotent stem cells to neuroectodermal lineages -н Zhu, Lili, Gomez-Duran, Aurora, Saretzki, Gabriele, Jin, Shibo, Tilgner, Katarzyna, Melguizo-Sanchis, Dario, Anyfantis, Georgios, Al-Aama, Jumana, Vallier, Ludovic, Chinnery, Patrick, Lako, Majlinda, Armstrong, Lyle

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Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ -н Widdrington, John D., Gomez-Duran, Aurora, Steyn, Jannetta S., Pyle, Angela, Ruchaud-Sparagano, Marie-Helene, Scott, Jonathan, Baudouin, Simon V., Rostron, Anthony J., Simpson, John, Chinnery, Patrick F.

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p38 MAPK priming boosts VSMC proliferation and arteriogenesis by promoting PGC1α-dependent mitochondrial dynamics -н Sahún-Español, Álvaro, Clemente, Cristina, Jiménez-Loygorri, Juan Ignacio, Sierra-Filardi, Elena, Herrera-Melle, Leticia, Gómez-Durán, Aurora, Sabio, Guadalupe, Monsalve, María, Boya, Patricia, Arroyo, Alicia G.

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Mitochondrial dysfunction in liver failure requiring transplantation -н Lane, Maria, Boczonadi, Veronika, Bachtari, Sahar, Gomez-Duran, Aurora, Langer, Thorsten, Griffiths, Alexandra, Kleinle, Stephanie, Dineiger, Christine, Abicht, Angela, Holinski-Feder, Elke, Schara, Ulrike, Gerner, Patrick, Horvath, Rita

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Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses -н Widdrington, John D., Gomez-Duran, Aurora, Pyle, Angela, Ruchaud-Sparagano, Marie-Helene, Scott, Jonathan, Baudouin, Simon V., Rostron, Anthony J., Lovat, Penny E., Chinnery, Patrick F., Simpson, A. John

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Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family -н Kullar, Peter J, Gomez-Duran, Aurora, Gammage, Payam A, Garone, Caterina, Minczuk, Michal, Golder, Zoe, Wilson, Janet, Montoya, Julio, Häkli, Sanna, Kärppä, Mikko, Horvath, Rita, Majamaa, Kari, Chinnery, Patrick F

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Metabolic effects of bezafibrate in mitochondrial disease -н Steele, Hannah, Gomez‐Duran, Aurora, Pyle, Angela, Hopton, Sila, Newman, Jane, Stefanetti, Renae J, Charman, Sarah J, Parikh, Jehill D, He, Langping, Viscomi, Carlo, Jakovljevic, Djordje G, Hollingsworth, Kieren G, Robinson, Alan J, Taylor, Robert W, Bottolo, Leonardo, Horvath, Rita, Chinnery, Patrick F

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Mutations in mitochondrial DNA causing tubulointerstitial kidney disease -н Connor, Thomas M., Hoer, Simon, Mallett, Andrew, Gale, Daniel P., Gomez-Duran, Aurora, Posse, Viktor, Antrobus, Robin, Moreno, Pablo, Sciacovelli, Marco, Frezza, Christian, Duff, Jennifer, Sheerin, Neil S., Sayer, John A., Ashcroft, Margaret, Wiesener, Michael S., Hudson, Gavin, Gustafsson, Claes M., Chinnery, Patrick F., Maxwell, Patrick H.

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Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila -н Andreazza, Simonetta, Samstag, Colby L., Sanchez-Martinez, Alvaro, Fernandez-Vizarra, Erika, Gomez-Duran, Aurora, Lee, Juliette J., Tufi, Roberta, Hipp, Michael J., Schmidt, Elizabeth K., Nicholls, Thomas J., Gammage, Payam A., Chinnery, Patrick F., Minczuk, Michal, Pallanck, Leo J., Kennedy, Scott R., Whitworth, Alexander J.

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Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene -н Pyle, Angela, Ramesh, Venkateswaran, Bartsakoulia, Marina, Boczonadi, Veronika, Gomez-Duran, Aurora, Herczegfalvi, Agnes, Blakely, Emma L., Smertenko, Tania, Duff, Jennifer, Eglon, Gail, Moore, David, Yu-Wai-Man, Patrick, Douroudis, Konstantinos, Santibanez-Koref, Mauro, Griffin, Helen, Lochmüller, Hanns, Karcagi, Veronika, Taylor, Robert W., Chinnery, Patrick F., Horvath, Rita

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