Results 291 to 300 of about 51,494 (318)

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–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

MET Exon 14 Skipping Mutations

The Journal of Molecular Diagnostics, 2022
Kurtis D. Davies, Lauren L. Ritterhouse, Anthony N. Snow, Nikoletta Sidiropoulos   +3 more
openaire   +1 more source

Antisense-Mediated Exon Skipping to Reframe Transcripts

2012
Numerous genetic disorders are caused by loss-of-function mutations that disrupt the open reading frame of the gene either by nonsense or by frameshift (insertion, deletion, indel, or splicing) mutations. Most of the time, the result is the absence of functional protein synthesis due to mRNA degradation by nonsense-mediated mRNA decay, or rapid ...
Sandrina, Turczynski, Matthias, Titeux, Nathalie, Pironon, Alain, Hovnanian   +3 more
openaire   +2 more sources

A missense variant within BRCA1 exon 23 causing exon skipping

Cancer Genetics and Cytogenetics, 2010
Etienne, Rouleau, Cédrick, Lefol, Virginie, Moncoutier, Laurent, Castera, Claude, Houdayer, Sandrine, Caputo, Ivan, Bièche, Monique, Buisson, Sylvie, Mazoyer, Dominique, Stoppa-Lyonnet, Catherine, Noguès, Rosette, Lidereau   +11 more
openaire   +2 more sources

Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy

Proceedings of the National Academy of Sciences of the United States of America, 2022
Kenji Rowel Q Lim, Stanley Woo, Yiqing Huang   +2 more
exaly  

Exon skipping therapy for DMD

Journal of Neuromuscular Diseases, 2021
openaire   +1 more source

Once-daily savolitinib in Chinese patients with pulmonary sarcomatoid carcinomas and other non-small-cell lung cancers harbouring MET exon 14 skipping alterations: a multicentre, single-arm, open-label, phase 2 study

Lancet Respiratory Medicine,the, 2021
Shun Lu, Jian Fang, Xingya Li
exaly  

Exon skipping combats Batten disease

Nature Reviews Drug Discovery, 2020
openaire   +1 more source