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Engineered tRNAs suppress nonsense mutations in cells and in vivo.
Albers S, Allen EC, Bharti N, Davyt M, Joshi D, Perez-Garcia CG, Santos L, Mukthavaram R, Delgado-Toscano MA, Molina B, Kuakini K, Alayyoubi M, Park KJ, Acharya G, Gonzalez JA, Sagi A, Birket SE, Tearney GJ, Rowe SM, Manfredi C, Hong JS, Tachikawa K, Karmali P, Matsuda D, Sorscher EJ, Chivukula P, Ignatova Z. Albers S, et al. Among authors: joshi d. Nature. 2023 Jun;618(7966):842-848. doi: 10.1038/s41586-023-06133-1. Epub 2023 May 31. Nature. 2023. PMID: 37258671 Free PMC article.
Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.
Rauscher R, Bampi GB, Guevara-Ferrer M, Santos LA, Joshi D, Mark D, Strug LJ, Rommens JM, Ballmann M, Sorscher EJ, Oliver KE, Ignatova Z. Rauscher R, et al. Among authors: joshi d. Proc Natl Acad Sci U S A. 2021 Jan 26;118(4):e2010612118. doi: 10.1073/pnas.2010612118. Proc Natl Acad Sci U S A. 2021. PMID: 33468668 Free PMC article.
A Novel 7H-[1,2,4]Triazolo[3,4-b]thiadiazine-based Cystic Fibrosis Transmembrane Conductance Regulator Potentiator Directed toward Treatment of Cystic Fibrosis.
Rab A, Yang X, Tracy WF, Hong JS, Joshi D, Manfredi C, Ponnaluri SS, Kolykhalov AA, Qui M, Fu H, Du Y, Davies HML, Sorscher EJ. Rab A, et al. Among authors: joshi d. ACS Med Chem Lett. 2023 Sep 20;14(10):1338-1343. doi: 10.1021/acsmedchemlett.3c00155. eCollection 2023 Oct 12. ACS Med Chem Lett. 2023. PMID: 37849531 Free PMC article.
In silico analysis and theratyping of an ultra-rare CFTR genotype (W57G/A234D) in primary human rectal and nasal epithelial cells.
Kleinfelder K, Lotti V, Eramo A, Amato F, Lo Cicero S, Castelli G, Spadaro F, Farinazzo A, Dell'Orco D, Preato S, Conti J, Rodella L, Tomba F, Cerofolini A, Baldisseri E, Bertini M, Volpi S, Villella VR, Esposito S, Zollo I, Castaldo G, Laudanna C, Sorsher EJ, Hong J, Joshi D, Cutting G, Lucarelli M, Melotti P, Sorio C. Kleinfelder K, et al. Among authors: joshi d. iScience. 2023 Oct 12;26(11):108180. doi: 10.1016/j.isci.2023.108180. eCollection 2023 Nov 17. iScience. 2023. PMID: 38026150 Free PMC article.
1,152 results