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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: paul kc. 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.
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: paul kc. JCI Insight. 2022 Mar 22;7(6):e148841. doi: 10.1172/jci.insight.148841. JCI Insight. 2022. PMID: 35315358 Free PMC article.
Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.
Joynt AT, Kavanagh EW, Newby GA, Mitchell S, Eastman AC, Paul KC, Bowling AD, Osorio DL, Merlo CA, Patel SU, Raraigh KS, Liu DR, Sharma N, Cutting GR. Joynt AT, et al. Among authors: paul kc. Mol Ther Nucleic Acids. 2023 Jun 29;33:335-350. doi: 10.1016/j.omtn.2023.06.020. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37547293 Free PMC article.
Diet and the gut microbiome in patients with Parkinson's disease.
Kwon D, Zhang K, Paul KC, Folle AD, Del Rosario I, Jacobs JP, Keener AM, Bronstein JM, Ritz B. Kwon D, et al. Among authors: paul kc. NPJ Parkinsons Dis. 2024 Apr 22;10(1):89. doi: 10.1038/s41531-024-00681-7. NPJ Parkinsons Dis. 2024. PMID: 38649365 Free PMC article.
Towards improved screening of toxins for Parkinson's risk.
Shan L, Heusinkveld HJ, Paul KC, Hughes S, Darweesh SKL, Bloem BR, Homberg JR. Shan L, et al. Among authors: paul kc. NPJ Parkinsons Dis. 2023 Dec 19;9(1):169. doi: 10.1038/s41531-023-00615-9. NPJ Parkinsons Dis. 2023. PMID: 38114496 Free PMC article. Review.
86 results