Results 161 to 170 of about 40,676 (197)

Exon skipping therapy for Duchenne muscular dystrophy

Advanced Drug Delivery Reviews, 2015
Duchenne muscular dystrophy (DMD) is caused mostly by internal deletions in the gene for dystrophin, a protein essential for maintaining muscle cell membrane integrity. These deletions abrogate the reading frame and the lack of dystrophin results in progressive muscle deterioration.
Ryszard, Kole, Arthur M, Krieg
exaly   +3 more sources

Overview on DMD Exon Skipping

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.
openaire   +4 more sources

Exon-skipping therapy for Duchenne muscular dystrophy

Lancet, The, 2012
exaly   +3 more sources

New exon-skipping strategy rescues dystrophin

Nature Reviews Drug Discovery, 2015
exaly   +2 more sources

Exon Skipping Quantification by Real-Time PCR

2012
Antisense oligonucleotide (AON)-mediated exon skipping is a therapeutic approach for subsets of Duchenne muscular dystrophy (DMD) patients to ameliorate the severe DMD phenotype. Several groups have successfully induced exon skipping by AONs to reframe the mRNA in various patients carrying deletions, and phase I/II clinical trials are ongoing.
FERLINI, Alessandra, RIMESSI, Paola
openaire   +2 more sources

Bioinformatics and Mutations Leading to Exon Skipping

2012
Our 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, Béroud, Christophe   +1 more
openaire   +2 more sources

Exon Skipping of FcεRIβ for Allergic Diseases

2018
Mast cells are key effector cells in allergic inflammation and consequently are ideal targets for new therapeutics. The high-affinity IgE receptor complex, FcεRI, plays a critical role in mast cell and basophil activation by allergens to drive the immediate allergic inflammatory response.
Greer K, Arthur, Glenn, Cruse
openaire   +2 more sources

Exon-skipping therapy for Duchenne muscular dystrophy

Rinsho Shinkeigaku, 2011
Duchenne muscular dystrophy (DMD) is caused by the lack of dystrophin at the sarcolemma. Exon skipping by antisense oligonucleotides is a novel method to restore the reading frame of the mutated DMD gene, and rescue dystrophin expression. We recently reported that systemic delivery of Morpholino antisense oligonucleotides targeting exon 6 and 8 of the ...
openaire   +2 more sources

Exon-Skipping–Based Subtyping of Colorectal Cancers

Gastroenterology
The identification of colorectal cancer (CRC) molecular subtypes has prognostic and potentially diagnostic value for patients, yet reliable subtyping remains unavailable in the clinic. The current consensus molecular subtype (CMS) classification in CRCs is based on complex RNA expression patterns quantified at the gene level.
Aslihan Ambeskovic, Matthew N. McCall, Jonathan Woodsmith, Hartmut Juhl, Hartmut Land   +4 more
openaire   +2 more sources

Designing Effective Antisense Oligonucleotides for Exon Skipping

2017
During the past 10 years, antisense oligonucleotide-mediated exon skipping and splice modulation have proven to be powerful tools for correction of mRNA splicing in genetic diseases. In 2016, the US Food and Drug Administration (FDA)-approved Exondys 51 (eteplirsen) and Spinraza (nusinersen), the first exon skipping and exon inclusion drugs, to treat ...
Takenori, Shimo, Rika, Maruyama, Toshifumi, Yokota   +2 more
openaire   +2 more sources