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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
Bhattacharyya N, Chai N, Hafford-Tear NJ, Sadan AN, Szabo A, Zarouchlioti C, Jedlickova J, Leung SK, Liao T, Dudakova L, Skalicka P, Parekh M, Moghul I, Jeffries AR, Cheetham ME, Muthusamy K, Hardcastle AJ, Pontikos N, Liskova P, Tuft SJ, Davidson AE. Bhattacharyya N, et al. Among authors: cheetham me. PLoS Genet. 2024 May 7;20(5):e1011230. doi: 10.1371/journal.pgen.1011230. eCollection 2024 May. PLoS Genet. 2024. PMID: 38713708 Free PMC article.
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.
Georgiou M, Robson AG, Uwaydat SH, Ji MH, Shakarchi AF, Pontikos N, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M. Georgiou M, et al. Among authors: cheetham me. Am J Ophthalmol. 2024 May;261:112-120. doi: 10.1016/j.ajo.2023.11.005. Epub 2023 Nov 16. Am J Ophthalmol. 2024. PMID: 37977507 Free PMC article.
Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.
Corral-Serrano JC, Sladen PE, Ottaviani D, Rezek OF, Athanasiou D, Jovanovic K, van der Spuy J, Mansfield BC, Cheetham ME. Corral-Serrano JC, et al. Among authors: cheetham me. Cells. 2023 Jun 7;12(12):1575. doi: 10.3390/cells12121575. Cells. 2023. PMID: 37371046 Free PMC article.
CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids.
Afanasyeva TAV, Athanasiou D, Perdigao PRL, Whiting KR, Duijkers L, Astuti GDN, Bennett J, Garanto A, van der Spuy J, Roepman R, Cheetham ME, Collin RWJ. Afanasyeva TAV, et al. Among authors: cheetham me. Mol Ther Methods Clin Dev. 2023 May 17;29:522-531. doi: 10.1016/j.omtm.2023.05.012. eCollection 2023 Jun 8. Mol Ther Methods Clin Dev. 2023. PMID: 37305852 Free PMC article.
Eupatilin improves cilia defects in human CEP290 ciliopathy models.
Corral-Serrano JC, Sladen PE, Ottaviani D, Rezek FO, Jovanovic K, Athanasiou D, van der Spuy J, Mansfield BC, Cheetham ME. Corral-Serrano JC, et al. Among authors: cheetham me. bioRxiv [Preprint]. 2023 Apr 12:2023.04.12.536565. doi: 10.1101/2023.04.12.536565. bioRxiv. 2023. PMID: 37205323 Free PMC article. Updated. Preprint.
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C.
Kaltak M, de Bruijn P, Piccolo D, Lee SE, Dulla K, Hoogenboezem T, Beumer W, Webster AR, Collin RWJ, Cheetham ME, Platenburg G, Swildens J. Kaltak M, et al. Among authors: cheetham me. Mol Ther Nucleic Acids. 2023 Feb 18;31:674-688. doi: 10.1016/j.omtn.2023.02.020. eCollection 2023 Mar 14. Mol Ther Nucleic Acids. 2023. PMID: 36910710 Free PMC article.
179 results