Results 11 to 20 of about 127,159 (238)
Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa [PDF]
Molecular Therapy - Nucleic Acids, 2019 Dystrophic epidermolysis bullosa (DEB) is a devastating blistering disease affecting skin and mucous membranes. It is caused by pathogenic variants in the COL7A1 gene encoding type VII collagen, and can be inherited dominantly or recessively.
Richard J Sinke +2 more
exaly +11 more sources
Analysis of Exon Skipping Applicability for Dysferlinopathies [PDF]
CellsExon skipping, mediated through antisense oligonucleotides (ASOs), is a promising approach to exclude pathogenic variants from the DYSF gene and treat dysferlinopathies.
Jamie Leckie +3 more
doaj +5 more sources
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures. [PDF]
PLoS ONE, 2018 BACKGROUND:Duchenne muscular dystrophy is a lethal disease caused by lack of dystrophin. Skipping of exons adjacent to out-of-frame deletions has proven to restore dystrophin expression in Duchenne patients.
Monika Hiller +17 more
doaj +3 more sources
Machine learning based CRISPR gRNA design for therapeutic exon skipping.
PLoS Computational Biology, 2021 Restoring gene function by the induced skipping of deleterious exons has been shown to be effective for treating genetic disorders. However, many of the clinically successful therapies for exon skipping are transient oligonucleotide-based treatments that
Wilson Louie +7 more
doaj +2 more sources
Exon skipping-rich transcriptomes of animals reflect the significance of exon-shuffling in metazoan proteome evolution [PDF]
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 +2 more sources
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.
Tetsuya Nagata +2 more
exaly +3 more sources
Long-Term Efficacy of AAV9-U7snRNA-Mediated Exon 51 Skipping in mdx52 Mice
Molecular Therapy - Methods and Clinical Development, 2020 Gene therapy and antisense approaches hold promise for the treatment of Duchenne muscular dystrophy (DMD). The advantages of both therapeutic strategies can be combined by vectorizing antisense sequences into an adeno-associated virus (AAV) vector.
kamel Mamchaoui +2 more
exaly +3 more sources
Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy [PDF]
BMC Medical Genetics, 2007 Background Antisense-mediated exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) targeting specific exons the DMD reading frame is restored and ...
van Ommen Gert-Jan B +3 more
doaj +3 more sources
Molecules, 2016 In this study, we synthesised a morpholino nucleoside-uridine (MNA-U) phosphoramidite and evaluated the potential of a MNA-modified antisense oligonucleotide (AO) sequences to induce exon 23 skipping in mdx mouse myotubes in vitro towards extending the ...
Suxiang Chen, Bao T Le, Rakesh N Veedu
exaly +3 more sources
Erratum: Therapeutic exon skipping for dysferlinopathies? [PDF]
European Journal of Human Genetics, 2010 Antisense-mediated exon skipping is a promising therapeutic approach for Duchenne muscular dystrophy (DMD) currently tested in clinical trials. The aim is to reframe dystrophin transcripts using antisense oligonucleotides (AONs).
Kavita H K Singh +22 more
core +4 more sources