Results 201 to 210 of about 127,159 (238)
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Bioinformatics and Mutations Leading to Exon Skipping
2012Our knowledge about human genes and the consequences of mutations leading to human genetic diseases has drastically improved over the last few years. It has been recognized that many mutations are indeed pathogenic because they impact the mRNA rather than the protein itself.
Desmet, François-Olivier +1 more
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Exon-skipping therapy for Duchenne muscular dystrophy
The Lancet, 2009Duchenne muscular dystrophy (DMD) is a lethal muscle disorder caused by mutations in the DMD gene for which no mutation‐targeted therapy has been available thus far. However, exon‐skipping mediated by antisense oligonucleotides (AOs), which are short single‐strand DNAs, has considerable potential for DMD therapy, and clinical trials in DMD patients are
Akinori, Nakamura, Shin'ichi, Takeda
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2012
Antisense-mediated exon skipping to restore the disrupted dystrophin reading frame is currently in clinical trials for Duchenne muscular dystrophy. This chapter describes the rationale of this approach and gives an overview of in vitro and in vivo experiments with antisense oligonucleotides and antisense genes.
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Antisense-mediated exon skipping to restore the disrupted dystrophin reading frame is currently in clinical trials for Duchenne muscular dystrophy. This chapter describes the rationale of this approach and gives an overview of in vitro and in vivo experiments with antisense oligonucleotides and antisense genes.
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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
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The association of nonsense codons with exon skipping
Mutation Research/Reviews in Mutation Research, 1998Some genes that contain premature nonsense codons express alternatively-spliced mRNA that has skipped the exon containing the nonsense codon. This paradoxical association of translation signals (nonsense codons) and RNA splicing has inspired numerous explanations. The first is based on the fact that premature nonsense codons often reduce mRNA abundance.
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Induced dystrophin exon skipping in human muscle explants
Neuromuscular Disorders, 2006 Antisense oligonucleotide (AO) manipulation of pre-mRNA splicing of the dystrophin gene is showing promise in overcoming Duchenne muscular dystrophy (DMD)-causing mutations.
Sue Fletcher +2 more
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Overview on Applications of Antisense-Mediated Exon Skipping
2012Antisense-mediated exon skipping has multiple therapeutic applications. This chapter gives an overview of how this tool has been employed to restore normal splicing for cryptic splicing mutations, to switch between alternative splicing isoforms, to induce exon inclusion, to correct the reading frame to allow the production of internally deleted ...
Willeke M C, van Roon-Mom +1 more
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Overview of Alternative Oligonucleotide Chemistries for Exon Skipping
2012The chemistry of the oligonucleotide backbone is crucial to obtaining high activity in vivo in exon skipping applications. Apart from the ability to bind strongly and sequence-specifically to pre-mRNA targets, the type of backbone also influences cell delivery, in vivo pharmacology, bio-distribution, toxicology, and ultimately the therapeutic use in ...
Amer F, Saleh +2 more
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Proceedings of the National Academy of Sciences of the United States of America, 2022
Md Nur Ahad Shah +2 more
exaly
Md Nur Ahad Shah +2 more
exaly