Results 241 to 250 of about 30,223 (276)

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

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

EGFR and HER2 exon 20 insertions in solid tumours: from biology to treatment

Nature Reviews Clinical Oncology, 2021
Alex Friedlaender, Vivek Subbiah, Alessandro Russo   +2 more
exaly  

MET-dependent solid tumours — molecular diagnosis and targeted therapy

Nature Reviews Clinical Oncology, 2020
Robin Guo, Jia Luo, Jason C Chang
exaly  

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