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CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.
Raraigh KS, Paul KC, Goralski JL, Worthington EN, Faino AV, Sciortino S, Wang Y, Aksit MA, Ling H, Osorio DL, Onchiri FM, Patel SU, Merlo CA, Montemayor K, Gibson RL, West NE, Thakerar A, Bridges RJ, Sheppard DN, Sharma N, Cutting GR. Raraigh KS, et al. Among authors: aksit ma. JCI Insight. 2022 Mar 22;7(6):e148841. doi: 10.1172/jci.insight.148841. JCI Insight. 2022. PMID: 35315358 Free PMC article.
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
Sharma N, Evans TA, Pellicore MJ, Davis E, Aksit MA, McCague AF, Joynt AT, Lu Z, Han ST, Anzmann AF, Lam AN, Thaxton A, West N, Merlo C, Gottschalk LB, Raraigh KS, Sosnay PR, Cotton CU, Cutting GR. Sharma N, et al. Among authors: aksit ma. PLoS Genet. 2018 Nov 16;14(11):e1007723. doi: 10.1371/journal.pgen.1007723. eCollection 2018 Nov. PLoS Genet. 2018. PMID: 30444886 Free PMC article.
Cystic fibrosis transmembrane conductance regulator function, not TAS2R38 gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis.
Dalesio NM, Aksit MA, Ahn K, Raraigh KS, Collaco JM, McGrath-Morrow S, Zeitlin PL, An SS, Cutting GR. Dalesio NM, et al. Among authors: aksit ma. Int Forum Allergy Rhinol. 2020 Jun;10(6):748-754. doi: 10.1002/alr.22548. Epub 2020 Apr 13. Int Forum Allergy Rhinol. 2020. PMID: 32282124 Free PMC article.
Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.
Joynt AT, Evans TA, Pellicore MJ, Davis-Marcisak EF, Aksit MA, Eastman AC, Patel SU, Paul KC, Osorio DL, Bowling AD, Cotton CU, Raraigh KS, West NE, Merlo CA, Cutting GR, Sharma N. Joynt AT, et al. Among authors: aksit ma. PLoS Genet. 2020 Oct 21;16(10):e1009100. doi: 10.1371/journal.pgen.1009100. eCollection 2020 Oct. PLoS Genet. 2020. PMID: 33085659 Free PMC article.
Characterizing mucociliary clearance in young children with cystic fibrosis.
Laube BL, Carson KA, Evans CM, Aksit MA, Collaco JM, Richardson VL, Sharpless G, Zeitlin PL, Cutting GR, Mogayzel PJ. Laube BL, et al. Among authors: aksit ma. Pediatr Res. 2022 Feb;91(3):612-620. doi: 10.1038/s41390-021-01453-2. Epub 2021 Mar 22. Pediatr Res. 2022. PMID: 33753897 Free PMC article.
39 results