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Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7.
Huang YT, Crick HR, Chaytow H, van der Hoorn D, Alhindi A, Jones RA, Hector RD, Cobb SR, Gillingwater TH. Huang YT, et al. Among authors: cobb sr. Mol Ther Nucleic Acids. 2023 Aug 2;33:617-628. doi: 10.1016/j.omtn.2023.07.036. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37637210 Free PMC article.
Novel MECP2 gene therapy is effective in a multicenter study using two mouse models of Rett syndrome and is safe in non-human primates.
Powers S, Likhite S, Gadalla KK, Miranda CJ, Huffenberger AJ, Dennys C, Foust KD, Morales P, Pierson CR, Rinaldi F, Perry S, Bolon B, Wein N, Cobb S, Kaspar BK, Meyer KC. Powers S, et al. Mol Ther. 2023 Sep 6;31(9):2767-2782. doi: 10.1016/j.ymthe.2023.07.013. Epub 2023 Jul 22. Mol Ther. 2023. PMID: 37481701 Free article.
A kinome-wide screen identifies a CDKL5-SOX9 regulatory axis in epithelial cell death and kidney injury.
Kim JY, Bai Y, Jayne LA, Hector RD, Persaud AK, Ong SS, Rojesh S, Raj R, Feng MJHH, Chung S, Cianciolo RE, Christman JW, Campbell MJ, Gardner DS, Baker SD, Sparreboom A, Govindarajan R, Singh H, Chen T, Poi M, Susztak K, Cobb SR, Pabla NS. Kim JY, et al. Among authors: cobb sr. Nat Commun. 2020 Apr 21;11(1):1924. doi: 10.1038/s41467-020-15638-6. Nat Commun. 2020. PMID: 32317630 Free PMC article.
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
Hector RD, Kalscheuer VM, Hennig F, Leonard H, Downs J, Clarke A, Benke TA, Armstrong J, Pineda M, Bailey MES, Cobb SR. Hector RD, et al. Among authors: cobb sr. Neurol Genet. 2017 Dec 15;3(6):e200. doi: 10.1212/NXG.0000000000000200. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264392 Free PMC article.
Radically truncated MeCP2 rescues Rett syndrome-like neurological defects.
Tillotson R, Selfridge J, Koerner MV, Gadalla KKE, Guy J, De Sousa D, Hector RD, Cobb SR, Bird A. Tillotson R, et al. Among authors: cobb sr. Nature. 2017 Oct 19;550(7676):398-401. doi: 10.1038/nature24058. Epub 2017 Oct 11. Nature. 2017. PMID: 29019980 Free PMC article.
Characterisation of Cdkl5 transcript isoforms in rat.
Hector RD, Dando O, Ritakari TE, Kind PC, Bailey ME, Cobb SR. Hector RD, et al. Among authors: cobb sr. Gene. 2017 Mar 1;603:21-26. doi: 10.1016/j.gene.2016.12.001. Epub 2016 Dec 7. Gene. 2017. PMID: 27940108 Free article.
74 results