Results 21 to 30 of about 29,161 (207)

Exon Skipping Is Correlated with Exon Circularization

Journal of Molecular Biology, 2015
Circular RNAs are found in a wide range of organisms and it has been proposed that they perform disparate functions. However, how RNA circularization is connected to alternative splicing remains largely unexplored. Here, we stimulated primary human endothelial cells with tumor necrosis factor α or tumor growth factor β, purified RNA, generated >2.4 ...
Kelly, S, Greenman, C, Cook, PR, Papantonis, A   +3 more
openaire   +4 more sources

Exon Skipping Therapy

Cell, 2016
Exondys 51 is the first therapy for Duchenne muscular dystrophy (DMD) to have been granted accelerated approval by the FDA. Approval was granted based on using dystrophin expression as a surrogate marker. Exondys 51 targets DMD exon 51 for skipping to restore the reading frame for 13% of Duchenne patients.
Courtney S, Young, April D, Pyle
openaire   +2 more sources

Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models

Molecular Therapy: Nucleic Acids, 2019
Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Florian Barthélémy, Richard T. Wang, Christopher Hsu, Emilie D. Douine, Eugene E. Marcantonio, Stanley F. Nelson, M. Carrie Miceli   +6 more
doaj   +1 more source

Mesenchymal-Epithelial Transition Exon 14 Skipping Mutation and Amplification in 5,008 Patients With Lung Cancer

Frontiers in Oncology, 2021
BackgroundLung cancer is a major health concern worldwide because of its increasing incidence and mortality. This study aimed to clarify the association between mesenchymal-epithelial transition (MET) genomic alterations and clinical characteristics of ...
Yaolin Song, Guangqi Li, Kun Ju, Wenwen Ran, Han Zhao, Xianglan Liu, Mingyu Hou, Yulu He, Yang Chen, Guoliang Zang, Xiaoming Xing   +10 more
doaj   +1 more source

Expert Consensus on Targeted Therapy of NSCLC with MET Exon 14 
Skipping Mutation

Chinese Journal of Lung Cancer, 2023
The mesenchymal-epithelial transition factor (MET) exon 14 skipping mutation is mainly caused by the loss of c-Cbl tyrosine binding site. This mutation could result in a decrease in the degradation rate of proteasome-mediated MET proteins, trigger ...
Lung Cancer Specialty Committee of Chinese Elderly Health Care Association
doaj   +1 more source

An Italian Multicenter Perspective Harmonization Trial for the Assessment of MET Exon 14 Skipping Mutations in Standard Reference Samples

Diagnostics, 2023
Lung cancer remains the leading cause of cancer deaths worldwide. International societies have promoted the molecular analysis of MET proto-oncogene, receptor tyrosine kinase (MET) exon 14 skipping for the clinical stratification of non-small cell lung ...
Paolo Bironzo, Francesco Pepe, Gianluca Russo, Pasquale Pisapia, Gianluca Gragnano, Gabriella Aquino, Silvia Bessi, Simonetta Buglioni, Federico Bartoccini, Giuseppina Ferrero, Michela Anna Bresciani, Paola Francia di Celle, Francesca Sibona, Andrea Giusti, Alessandra Movilia, Renata Mariella Farioli, Alessandra Santoro, Domenico Salemi, Stefania Scarpino, Dino Galafate, Stefania Tommasi, Rosanna Lacalamita, Davide Seminati, Elham Sajjadi, Silvia Novello, Fabio Pagni, Giancarlo Troncone, Umberto Malapelle   +27 more
doaj   +1 more source

CRISPR/Cas9-mediated genome editing induces exon skipping by complete or stochastic altering splicing in the migratory locust

BMC Biotechnology, 2018
Background The CRISPR/Cas9 system has been widely used to generate gene knockout/knockin models by inducing frameshift mutants in cell lines and organisms.
Dafeng Chen, Ji-Xin Tang, Beibei Li, Li Hou, Xianhui Wang, Le Kang   +5 more
doaj   +1 more source

Exon skipping-rich transcriptomes of animals reflect the significance of exon-shuffling in metazoan proteome evolution

Biology Direct, 2019
ᅟ Animals are known to have higher rates of exon skipping than other eukaryotes. In a recent study, Grau-Bové et al. (Genome Biology 19:135, 2018) have used RNA-seq data across 65 eukaryotic species to investigate when and how this high prevalence of ...
Laszlo Patthy
doaj   +1 more source

Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening. [PDF]

PLoS ONE, 2009
One therapeutic approach to Duchenne Muscular Dystrophy (DMD) recently entering clinical trials aims to convert DMD phenotypes to that of a milder disease variant, Becker Muscular Dystrophy (BMD), by employing antisense oligonucleotides (AONs) targeting ...
Debra A O'Leary, Orzala Sharif, Paul Anderson, Buu Tu, Genevieve Welch, Yingyao Zhou, Jeremy S Caldwell, Ingo H Engels, Achim Brinker   +8 more
doaj   +1 more source

Persistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model

Molecular Therapy: Methods & Clinical Development, 2023
Duchenne muscular dystrophy (DMD) is a progressive X-linked disease caused by mutations in the DMD gene that prevent the expression of a functional dystrophin protein. Exon duplications represent 6%–11% of mutations, and duplications of exon 2 (Dup2) are
Liubov V. Gushchina, Adrienne J. Bradley, Tatyana A. Vetter, Jacob W. Lay, Natalie L. Rohan, Emma C. Frair, Nicolas Wein, Kevin M. Flanigan   +7 more
doaj   +1 more source