نتائج البحث - Gomez-Duran, Aurora

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

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Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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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