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Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models.
Dulla K, Aguila M, Lane A, Jovanovic K, Parfitt DA, Schulkens I, Chan HL, Schmidt I, Beumer W, Vorthoren L, Collin RWJ, Garanto A, Duijkers L, Brugulat-Panes A, Semo M, Vugler AA, Biasutto P, Adamson P, Cheetham ME. Dulla K, et al. Among authors: collin rwj. Mol Ther Nucleic Acids. 2018 Sep 7;12:730-740. doi: 10.1016/j.omtn.2018.07.010. Epub 2018 Jul 23. Mol Ther Nucleic Acids. 2018. PMID: 30114557 Free PMC article.
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.
Avila-Fernandez A, Perez-Carro R, Corton M, Lopez-Molina MI, Campello L, Garanto A, Fernandez-Sanchez L, Duijkers L, Lopez-Martinez MA, Riveiro-Alvarez R, Da Silva LR, Sanchez-Alcudia R, Martin-Garrido E, Reyes N, Garcia-Garcia F, Dopazo J, Garcia-Sandoval B, Collin RW, Cuenca N, Ayuso C. Avila-Fernandez A, et al. Hum Mol Genet. 2015 Jul 15;24(14):4037-48. doi: 10.1093/hmg/ddv140. Epub 2015 Apr 16. Hum Mol Genet. 2015. PMID: 25882705
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.
Sangermano R, Bax NM, Bauwens M, van den Born LI, De Baere E, Garanto A, Collin RW, Goercharn-Ramlal AS, den Engelsman-van Dijk AH, Rohrschneider K, Hoyng CB, Cremers FP, Albert S. Sangermano R, et al. Ophthalmology. 2016 Jun;123(6):1375-85. doi: 10.1016/j.ophtha.2016.01.053. Epub 2016 Mar 12. Ophthalmology. 2016. PMID: 26976702
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.
Slijkerman RW, Vaché C, Dona M, García-García G, Claustres M, Hetterschijt L, Peters TA, Hartel BP, Pennings RJ, Millan JM, Aller E, Garanto A, Collin RW, Kremer H, Roux AF, Van Wijk E. Slijkerman RW, et al. Mol Ther Nucleic Acids. 2016 Nov 1;5(10):e381. doi: 10.1038/mtna.2016.89. Mol Ther Nucleic Acids. 2016. PMID: 27802265 Free article.
160 results