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Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.
Beck S, Penque D, Garcia S, Gomes A, Farinha C, Mata L, Gulbenkian S, Gil-Ferreira K, Duarte A, Pacheco P, Barreto C, Lopes B, Cavaco J, Lavinha J, Amaral MD. Beck S, et al. Among authors: gomes a. Hum Mutat. 1999;14(2):133-44. doi: 10.1002/(SICI)1098-1004(1999)14:2<133::AID-HUMU5>3.0.CO;2-T. Hum Mutat. 1999. PMID: 10425036
Tissue-specific splicing factor gene expression signatures.
Grosso AR, Gomes AQ, Barbosa-Morais NL, Caldeira S, Thorne NP, Grech G, von Lindern M, Carmo-Fonseca M. Grosso AR, et al. Nucleic Acids Res. 2008 Sep;36(15):4823-32. doi: 10.1093/nar/gkn463. Epub 2008 Jul 24. Nucleic Acids Res. 2008. PMID: 18653532 Free PMC article.
Control of T cell effector functions by miRNAs.
Inácio DP, Amado T, Silva-Santos B, Gomes AQ. Inácio DP, et al. Cancer Lett. 2018 Jul 28;427:63-73. doi: 10.1016/j.canlet.2018.04.011. Epub 2018 Apr 19. Cancer Lett. 2018. PMID: 29679611 Review.
4,023 results