Results 1 to 10 of about 29,161 (207)
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 Sinke +2 more
exaly +8 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 +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.
K Joeri van der Velde, , Jeroen Bremer
exaly +5 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
Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene
Molecular Therapy - Nucleic Acids, 2014 Duchenne muscular dystrophy is a severe muscle-wasting disease caused by mutations in the dystrophin gene that ablate functional protein expression. Although exonic deletions are the most common Duchenne muscular dystrophy lesion, duplications account for 10-15% of reported disease-causing mutations, and exon 2 is the most commonly duplicated exon ...
Kevin Flanigan +2 more
exaly +4 more sources
SPLICER: a highly efficient base editing toolbox that enables in vivo therapeutic exon skipping [PDF]
Nature CommunicationsExon skipping technologies enable exclusion of targeted exons from mature mRNA transcripts, which have broad applications in medicine and biotechnology.
Angelo Miskalis +14 more
doaj +2 more sources
Podocyte specific exon skipping after disease onset improves kidney pathology and function in a mouse model of Alport syndrome [PDF]
Scientific ReportsAlport syndrome (AS) is a hereditary kidney disorder caused by mutations in COL4A3, COL4A4, and COL4A5, which often lead to progressive renal failure.
Kentarou Hashikami +4 more
doaj +2 more sources
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I
Molecular Therapy - Nucleic Acids, 2022 We investigated the feasibility of utilizing an exon-skipping approach as a genotype-dependent therapeutic for neurofibromatosis type 1 (NF1) by determining which NF1 exons might be skipped while maintaining neurofibromin protein expression and GTPase ...
Laura Lambert +2 more
exaly +3 more sources
A BRCA1 Nonsense Mutation Causes Exon Skipping [PDF]
American Journal of Human Genetics, 1998 The authors would like to thank the family members. We also thank C. Bonnardel, L. Boutrand, T. Conway, J. Lynch, S. Slominski, and P. Watson, for their expert assistance. This work was supported by program grants from le Comite Departemental de l'Ain de La Ligue contre le Cancer, the Council for Tobacco Research (grant 127DR@), the U.S.
Nadine Puget +2 more
exaly +3 more sources
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