Results 31 to 40 of about 49,802 (297)

CRISPR/Cas9-mediated genome editing induces exon skipping by complete or stochastic altering splicing in the migratory locust

BMC Biotechnology, 2018
Background The CRISPR/Cas9 system has been widely used to generate gene knockout/knockin models by inducing frameshift mutants in cell lines and organisms.
Dafeng Chen, Ji-Xin Tang, Beibei Li, Li Hou, Xianhui Wang, Le Kang   +5 more
doaj   +1 more source

Nucleobase-modified antisense oligonucleotides containing 5-(phenyltriazol)-2′-deoxyuridine nucleotides induce exon-skipping:In vitro [PDF]

, 2017
We investigated the potential of nucleobase-modified antisense oligonucleotides to induce exon-skipping, and found that 5-(phenyltriazol)-2′-deoxyuridine-modified antisense oligonucleotides induced efficient exon-skipping in vitro.
Hornum, Mick, Le, Bao T., Nielsen, Poul, Sharma, Pawan K., Veedu, Rakesh N.   +4 more
core   +1 more source

Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening. [PDF]

PLoS ONE, 2009
One therapeutic approach to Duchenne Muscular Dystrophy (DMD) recently entering clinical trials aims to convert DMD phenotypes to that of a milder disease variant, Becker Muscular Dystrophy (BMD), by employing antisense oligonucleotides (AONs) targeting ...
Debra A O'Leary, Orzala Sharif, Paul Anderson, Buu Tu, Genevieve Welch, Yingyao Zhou, Jeremy S Caldwell, Ingo H Engels, Achim Brinker   +8 more
doaj   +1 more source

Persistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model

Molecular Therapy: Methods & Clinical Development, 2023
Duchenne muscular dystrophy (DMD) is a progressive X-linked disease caused by mutations in the DMD gene that prevent the expression of a functional dystrophin protein. Exon duplications represent 6%–11% of mutations, and duplications of exon 2 (Dup2) are
Liubov V. Gushchina, Adrienne J. Bradley, Tatyana A. Vetter, Jacob W. Lay, Natalie L. Rohan, Emma C. Frair, Nicolas Wein, Kevin M. Flanigan   +7 more
doaj   +1 more source

Exon skipping-rich transcriptomes of animals reflect the significance of exon-shuffling in metazoan proteome evolution

Biology Direct, 2019
ᅟ Animals are known to have higher rates of exon skipping than other eukaryotes. In a recent study, Grau-Bové et al. (Genome Biology 19:135, 2018) have used RNA-seq data across 65 eukaryotic species to investigate when and how this high prevalence of ...
Laszlo Patthy
doaj   +1 more source

Combined Computational-Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon-Skipping Level. [PDF]

, 2013
International audienceWith the increased number of identified nucleotide sequence variations in genes, the current challenge is to classify them as disease causing or neutral.
Aissat, Abdel, Chaoui, Asma, Costa, Catherine, Costes, Bruno, de Becdelièvre, Alix, Fanen, Pascale, Girodon, Emmanuelle, Golmard, Lisa, Goossens, Michel, Hinzpeter, Alexandre, Martin, Natacha, Vasseur, Christian   +11 more
core   +4 more sources

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy. [PDF]

, 2013
International audienceCentral core disease is a myopathy often arising from mutations in the type 1 ryanodine receptor (RYR1) gene, encoding the sarcoplasmic reticulum calcium release channel RyR1. No treatment is currently available for this disease. We
Beley, Cyriaque, Brocard, Julie, Denarier, Eric, Fauré, Julien, Fourest-Lieuvin, Anne, Garcia, Luis, Gilbert-Dussardier, Brigitte, Lunardi, Joël, Marty, Isabelle, Monnier, Nicole, Perez, Marie José, Piétri-Rouxel, France, Rendu, John, Romero, Norma, Roux-Buisson, Nathalie   +14 more
core   +3 more sources

NS-065/NCNP-01: An Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy (DMD), the most common lethal heritable childhood disease, is caused by mutations in the DMD gene that result in the absence of functional dystrophin protein.
Naoki Watanabe, Tetsuya Nagata, Youhei Satou, Satoru Masuda, Takashi Saito, Hidetoshi Kitagawa, Hirofumi Komaki, Kazuchika Takagaki, Shin’ichi Takeda   +8 more
doaj   +1 more source

A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes. [PDF]

PLoS ONE, 2012
Humans have two near identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Loss of SMN1 coupled with the predominant skipping of SMN2 exon 7 causes spinal muscular atrophy (SMA), a neurodegenerative disease.
Natalia N Singh, Joonbae Seo, Sarah J Rahn, Ravindra N Singh   +3 more
doaj   +1 more source

Large introns in relation to alternative splicing and gene evolution: a case study of Drosophila bruno-3 [PDF]

, 2009
Background: Alternative splicing (AS) of maturing mRNA can generate structurally and functionally distinct transcripts from the same gene. Recent bioinformatic analyses of available genome databases inferred a positive correlation between intron length ...
A Marchler-Bauer, A Mortazavi, A Nekrutenko, A Rambaut, A Resch, AA Patel, AB Carvalho, AE Vinogradov, AG Clark, AM McGuire, AN Ladd, AR Hatton, AS Chang, AV Alekseyenko, AV Philips, B Budagyan, B Modrek, B Modrek, B Prud'homme, BR Graveley, BR Graveley, BR Graveley, C Lee, C Notredame, CI Castillo-Davis, CL Fitzpatrick, CS Thummel, D Babushok, D Baek, D Gatfield, D Monroe, D Ortíz-Barrientos, DA Petrov, DA Petrov, DG Gilbert, DI Nurminsky, DJ Kenan, DL Black, DL Swofford, E Betran, E Kim, E Kim, E Wagner, EA Glazov, F-C Chen, FA Kondrashov, G Ast, G Lev-Maor, G Marais, GD Schuler, H Itoh, IA Swinburne, International Human Genome Sequencing Consortium, J Delaunay, J Felsenstein, J Rozas, JM Burnette, JM Comeron, JM Johnson, K Tamura, KL Fox-Walsh, KM Neugebauer, LF Lareau, M Clamp, M Guo, M Labrador, M Lynch, M Roy, M Talerico, MA Noor, MD Adams, MD Adams, MF Wilkinson, Mohamed AF Noor, MT Levine, Nikolai P Kandul, NJ Proudfoot, NM Kopelman, P Haddrill, PA Sharp, PJ Good, PM O'Grady, Q Pan, R Sorek, R Sorek, R Sorek, R Sorek, R Sorek, S Karlin, S Misra, S Richards, S-T Chen, SF Altschul, SM Berget, TE Royce, V Stolc, W Wang, WG Hill, Y Xing, Y Xing, Z Kan   +100 more
core   +5 more sources