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Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Balogh E, et al. Among authors: faro a. Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17. Proc Natl Acad Sci U S A. 2020. PMID: 32554502 Free PMC article.
Tcf7l2 is required for left-right asymmetric differentiation of habenular neurons.
Hüsken U, Stickney HL, Gestri G, Bianco IH, Faro A, Young RM, Roussigne M, Hawkins TA, Beretta CA, Brinkmann I, Paolini A, Jacinto R, Albadri S, Dreosti E, Tsalavouta M, Schwarz Q, Cavodeassi F, Barth AK, Wen L, Zhang B, Blader P, Yaksi E, Poggi L, Zigman M, Lin S, Wilson SW, Carl M. Hüsken U, et al. Among authors: faro a. Curr Biol. 2014 Oct 6;24(19):2217-27. doi: 10.1016/j.cub.2014.08.006. Epub 2014 Sep 4. Curr Biol. 2014. PMID: 25201686 Free PMC article.
Recursive splicing in long vertebrate genes.
Sibley CR, Emmett W, Blazquez L, Faro A, Haberman N, Briese M, Trabzuni D, Ryten M, Weale ME, Hardy J, Modic M, Curk T, Wilson SW, Plagnol V, Ule J. Sibley CR, et al. Among authors: faro a. Nature. 2015 May 21;521(7552):371-375. doi: 10.1038/nature14466. Epub 2015 May 13. Nature. 2015. PMID: 25970246 Free PMC article.
Structural and functional conservation of non-lumenized lymphatic endothelial cells in the mammalian leptomeninges.
Shibata-Germanos S, Goodman JR, Grieg A, Trivedi CA, Benson BC, Foti SC, Faro A, Castellan RFP, Correra RM, Barber M, Ruhrberg C, Weller RO, Lashley T, Iliff JJ, Hawkins TA, Rihel J. Shibata-Germanos S, et al. Among authors: faro a. Acta Neuropathol. 2020 Feb;139(2):383-401. doi: 10.1007/s00401-019-02091-z. Epub 2019 Nov 6. Acta Neuropathol. 2020. PMID: 31696318 Free PMC article.
Cachd1 interacts with Wnt receptors and regulates neuronal asymmetry in the zebrafish brain.
Powell GT, Faro A, Zhao Y, Stickney H, Novellasdemunt L, Henriques P, Gestri G, Redhouse White E, Ren J, Lu W, Young RM, Hawkins TA, Cavodeassi F, Schwarz Q, Dreosti E, Raible DW, Li VSW, Wright GJ, Jones EY, Wilson SW. Powell GT, et al. Among authors: faro a. Science. 2024 May 3;384(6695):573-579. doi: 10.1126/science.ade6970. Epub 2024 May 2. Science. 2024. PMID: 38696577 Free PMC article.
277 results