Results 11 to 20 of about 240,839 (324)
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance [PDF]
Molecular CancerPARP inhibitor (PARPi) therapy has transformed outcomes for patients with homologous recombination DNA repair (HRR) deficient ovarian cancers, for example those with BRCA1 or BRCA2 gene defects. Unfortunately, PARPi resistance is common.
Ksenija Nesic +37 more
doaj +2 more sources
CRISPR-induced exon skipping is dependent on premature termination codon mutations
Genome Biology, 2018 In previous studies, CRISPR/Cas9 was shown to induce unexpected exon skipping; however, the mechanism by which this phenomenon is triggered is controversial.
Tingting Sui +7 more
doaj +2 more sources
Tepotinib Treatment in Patients With MET Exon 14–Skipping Non–Small Cell Lung Cancer
JAMA Oncology, 2023 Key Points Question Does the long-term follow-up analysis of the VISION nonrandomized clinical trial demonstrate good clinical outcomes with tepotinib in patients with MET exon 14 (METex14)-skipping non–small cell lung cancer (NSCLC)?
J. Mazières +21 more
semanticscholar +1 more source
Nucleic Acids Research, 2022 Current therapies for Duchenne muscular dystrophy (DMD) use phosphorodiamidate morpholino oligomers (PMO) to induce exon skipping in the dystrophin pre-mRNA, enabling the translation of a shortened but functional dystrophin protein.
Cody A. Desjardins +16 more
semanticscholar +1 more source
Orphanet Journal of Rare Diseases, 2012 Duchenne muscular dystrophy (DMD) is a severe, progressive muscle-wasting disorder, while Becker muscular dystrophy (BMD) is milder muscle disease [1]. Both are caused by mutations in dystrophin, a protein, which stabilizes muscle fibers during contraction by linking muscle actin to the extracellular matrix.
Annemieke Aartsma-Rus +4 more
openaire +2 more sources
Proceedings of the National Academy of Sciences of the United States of America, 2022 Significance Duchenne muscular dystrophy (DMD) is a fatal disorder of progressive body-wide muscle weakness, considered the most common muscular dystrophy worldwide. Most patients have out-of-frame deletions in the DMD gene, leading to dystrophin absence
K. Lim +11 more
semanticscholar +1 more source
JMA Journal, 2021 In 1995, we were the first to propose antisense oligonucleotide (ASO)-mediated exon-skipping therapy for the treatment of Duchenne muscular dystrophy (DMD), a noncurable, progressive muscle-wasting disease.
M. Matsuo
semanticscholar +1 more source
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 +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 +4 more sources
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa [PDF]
International Journal of Molecular Sciences, 2021 Epidermolysis bullosa is a group of genetic skin conditions characterized by abnormal skin (and mucosal) fragility caused by pathogenic variants in various genes. The disease severity ranges from early childhood mortality in the most severe types to occasional acral blistering in the mildest types.
Anna M.G. Pasmooij +12 more
openaire +4 more sources