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Dynamic regulation of hypoxia-inducible factor-1α activity is essential for normal B cell development.
Burrows N, Bashford-Rogers RJM, Bhute VJ, Peñalver A, Ferdinand JR, Stewart BJ, Smith JEG, Deobagkar-Lele M, Giudice G, Connor TM, Inaba A, Bergamaschi L, Smith S, Tran MGB, Petsalaki E, Lyons PA, Espeli M, Huntly BJP, Smith KGC, Cornall RJ, Clatworthy MR, Maxwell PH. Burrows N, et al. Nat Immunol. 2020 Nov;21(11):1408-1420. doi: 10.1038/s41590-020-0772-8. Epub 2020 Aug 31. Nat Immunol. 2020. PMID: 32868930 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.