Results 41 to 50 of about 40,676 (197)
Antisense PMO cocktails effectively skip dystrophin exons 45-55 in myotubes transdifferentiated from DMD patient fibroblasts. [PDF]
PLoS ONE, 2018 Antisense-mediated exon skipping has made significant progress as a therapeutic platform in recent years, especially in the case of Duchenne muscular dystrophy (DMD).
Joshua Lee +6 more
doaj +1 more source
Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon [PDF]
, 2010 Context: The GH receptor (GHR) pseudoexon 6 Psi defect is a frequent cause of GH insensitivity (GHI) resulting from a non-functioning GH receptor (GHR). It results in a broad range of phenotypes and may also be present in patients diagnosed as idiopathic
Clark, AJL +4 more
core +1 more source
Exon Skipping Is Correlated with Exon Circularization
Journal of Molecular Biology, 2015 Circular RNAs are found in a wide range of organisms and it has been proposed that they perform disparate functions. However, how RNA circularization is connected to alternative splicing remains largely unexplored. Here, we stimulated primary human endothelial cells with tumor necrosis factor α or tumor growth factor β, purified RNA, generated >2.4 ...
Kelly, S +3 more
openaire +4 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 +5 more
doaj +1 more source
Wild-type mouse models to screen antisense oligonucleotides for exon-skipping efficacy in Duchenne muscular dystrophy. [PDF]
PLoS ONE, 2014 A readily available animal model is essential for rapidly identifying effective treatments for Duchenne muscular dystrophy (DMD), a devastating neuromuscular disorder caused by the lack of dystrophin protein, which results from frame-disrupting mutations
Limin Cao, Gang Han, Ben Gu, HaiFang Yin
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 +11 more
core +4 more sources
A BRCA1 Nonsense Mutation Causes Exon Skipping [PDF]
The 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.
Mazoyer, Sylvie +5 more
openaire +2 more sources
Molecular Genetics & Genomic Medicine, 2021 Background Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause Joubert ...
Miguel Barroso‐Gil +5 more
doaj +1 more source
Exploration of alternative splicing events in ten different grapevine cultivars [PDF]
, 2015 Background: The complex dynamics of gene regulation in plants are still far from being fully understood. Among many factors involved, alternative splicing (AS) in particular is one of the least well documented.
Asquini, Elisa +8 more
core +7 more sources
Exon-skipping advances for Duchenne muscular dystrophy [PDF]
Human Molecular Genetics, 2018 Duchenne muscular dystrophy (DMD) is a fatal genetic disorder characterized by progressive muscle wasting that has currently no cure. Exon-skipping strategy represents one of the most promising therapeutic approaches that aim to restore expression of a shorter but functional dystrophin protein.
Lucía, Echevarría +2 more
openaire +2 more sources