Sentences with phrase «exon skipping»

The mutation is a G → A substitution at c. 1473 + 1, which destroys a splice donor recognition site in intron 10 and causes exon skipping that results in a frameshift and the introduction of a premature termination codon [129].

Clinical trials have used oligonucleotide exon skipping (OEN) to remove mutated exons from the dystrophin transcript.

Could this approach work with dystrophin exon skipping?

Even low - frequency editing could make a huge difference in DMD, and it's estimated that exon skipping therapies would be applicable to 80 % of DMD patients.

The homology - directed repair (HDR) pathway is downregulated in mature tissues - no problem, as exon skipping proceeds through the non-homologous end joining (NHEJ) pathway.

In addition to upregulating HDR, NHEJ must be downregulated to prevent the introduction of new mutations by CRISPR; editing exonic regions comes with much more risk than the intronic editing used in the exon skipping approaches here.

Nanopore sequencing of full - length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events

Since complex oligonucleotide treatment comes with many challenges, researchers have begun to explore genome editing approaches for exon skipping.

Researchers demonstrate how CRISPR / Cas9 - mediated exon skipping, or myoediting, may rescue dystrophin function in a majority of Duchenne muscular dystrophy patients

The researchers utilized a technique known as exon skipping, a form of RNA splicing, to eliminate the portion of one of the IgE receptor gene's mRNA that is essential to making a protein which places the IgE receptor on the mast cell surface.

Right: exon skipping treatment eliminates trafficking of the IgE receptor to the surface of mast cells, rendering the cells unresponsive to allergen - mediated mast cell activation.

«The sale of the PRV provides an important source of non-dilutive capital to support the rapid advancement of our follow on exon skipping candidates and next generation RNA targeted antisense platform,» he said in a statement, referring to the action mechanism used by the company's therapies.

Not exact matches

Sarepta Therapeutics, which won a pioneering Food and Drug Administration approval for its Duchenne muscular dystrophy drug last year, has settled a patent dispute with rival BioMarin over the «exon - skipping» technology at heart of the companies» muscular dystrophy treatments.

The research, which appears online Aug. 1 in the journal Annals of Neurology, is the first study from a double - blind controlled randomized trial of an exon - skipping agent to provide conclusive proof based on the standard six - minute walk test used to measure muscle function in patients with Duchenne muscular dystrophy (DMD), the most common form of muscular dystrophy in children.

The study, led by a team in The Research Institute at Nationwide Children's Hospital, is the first of its kind to show these results from an exon - skipping drug — a class of therapeutics that allows cells to skip over missing parts of the gene and produce protein naturally.

A Phase II Single - Arm Trial to Investigate Tepotinib in advanced (Stage IIIB / IV) Non-Small Cell Lung Cancer with MET Exon 14 (METex14) Skipping Alterations After Failure of at Least One Prior Active Therapy, Including a Platinum - Doublet - Containing Regimen

The ability of Nanopore sequencing to define the complete exonic structure of CACNA1C allows us to identify known and novel gene isoforms, including novel exons and multi-exonic skipping events and their expression across multiple brain regions.

The disease - causing mutation was identified as a 4 bp deletion in a splice donor site in the Mfrp gene that leads to the skipping of exon 4.

Exon - skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.

Five of the seven lines showed evidence of altered mRNA processing: one through a skipped exon that did not lead to a frame shift, one through nonsense - associated splicing that did not lead to a frame shift, and three through the use of cryptic splice sites.

Although Nelson et al. observed only 2 % genome editing in one experiment, they found the exon - skipped transcript constituted 59 % of total dystrophin mRNA, similar to the 39 % observed by Tabebordbar et al..