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An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.
Yonova-Doing E, Calabrese C, Gomez-Duran A, Schon K, Wei W, Karthikeyan S, Chinnery PF, Howson JMM. Yonova-Doing E, et al. Among authors: gomez duran a. Nat Genet. 2021 Jul;53(7):982-993. doi: 10.1038/s41588-021-00868-1. Epub 2021 May 17. Nat Genet. 2021. PMID: 34002094 Free PMC article.
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.
Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R. Pyle A, et al. J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003. J Neuromuscul Dis. 2014. PMID: 26380172 Free PMC article.
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.
Connor TM, Hoer S, Mallett A, Gale DP, Gomez-Duran A, Posse V, Antrobus R, Moreno P, Sciacovelli M, Frezza C, Duff J, Sheerin NS, Sayer JA, Ashcroft M, Wiesener MS, Hudson G, Gustafsson CM, Chinnery PF, Maxwell PH. Connor TM, et al. PLoS Genet. 2017 Mar 7;13(3):e1006620. doi: 10.1371/journal.pgen.1006620. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28267784 Free PMC article.
Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ.
Widdrington JD, Gomez-Duran A, Steyn JS, Pyle A, Ruchaud-Sparagano MH, Scott J, Baudouin SV, Rostron AJ, Simpson J, Chinnery PF. Widdrington JD, et al. J Allergy Clin Immunol. 2017 Nov;140(5):1461-1464.e8. doi: 10.1016/j.jaci.2017.04.048. Epub 2017 Jun 17. J Allergy Clin Immunol. 2017. PMID: 28629747 Free PMC article. No abstract available.
50 results