Results 31 to 40 of about 51,494 (318)
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 +8 more
doaj +1 more source
Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy [PDF]
, 2015 Frameshift mutations in the TTN gene encoding titin are a major cause for inherited forms of dilated cardiomyopathy (DCM), a heart disease characterized by ventricular dilatation, systolic dysfunction, and progressive heart failure. To date, there are no
Alessandra, Moretti +22 more
core +1 more source
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). These hide an exon from the splicing machinery to induce exon skipping, restoration of the reading frame and generation of ...
Aartsma-Rus, A. +6 more
openaire +3 more sources
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
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 +7 more
doaj +1 more source
The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype [PDF]
, 2016 Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced.
BOZZONI, Irene +7 more
core +2 more sources
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 +3 more
doaj +1 more source
Modulation of exon skipping and inclusion by heterogeneous nuclear ribonucleoprotein A1 and pre-mRNA splicing factor SF2/ASF [PDF]
, 1993 The essential splicing factor SF2/ASF and the heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) modulate alternative splicing in vitro of pre-mRNAs that contain 5' splice sites of comparable strengths competing for a common 3' splice site.
Mayeda, A. +2 more
core +1 more source
Exonic mutations and exon skipping: Lessons learned from DFNA5 [PDF]
Human Mutation, 2018 Dysregulation of splicing is a common factor underlying many inherited diseases including deafness. For one deafness-associated gene, DFNA5, perturbation of exon 8 splicing results in a constitutively active truncated protein. To date, only intronic mutations have been reported to cause exon 8 skipping in patients with DFNA5-related deafness.
Kevin T. Booth +8 more
openaire +2 more sources
ESMO Open, 2020 Background ERBB2 exon 16 skipping is an alternatively spliced isoform of ERBB2, which was reported to lead to oncogenic activation of ERBB2 and could potentially cause tyrosine kinase inhibitor (TKI) resistance in non-small cell lung cancer (NSCLC) in ...
Xue Wu +8 more
doaj +1 more source