Results 21 to 30 of about 30,223 (276)

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

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

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

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

Therapeutic exon skipping for dysferlinopathies? [PDF]

European Journal of Human Genetics, 2010
Antisense-mediated exon skipping is a promising therapeutic approach for Duchenne muscular dystrophy (DMD) currently tested in clinical trials. The aim is to reframe dystrophin transcripts using antisense oligonucleotides (AONs). These hide an exon from the splicing machinery to induce exon skipping, restoration of the reading frame and generation of ...
Aartsma-Rus, A., Singh, K.H.K., Fokkema, I.F.A.C., Ginjaar, I.B., Ommen, G.J. van, Dunnen, J.T. den, Maarel, S.M. van der   +6 more
openaire   +3 more sources

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

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

NS-065/NCNP-01: An Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy (DMD), the most common lethal heritable childhood disease, is caused by mutations in the DMD gene that result in the absence of functional dystrophin protein.
Naoki Watanabe, Tetsuya Nagata, Youhei Satou, Satoru Masuda, Takashi Saito, Hidetoshi Kitagawa, Hirofumi Komaki, Kazuchika Takagaki, Shin’ichi Takeda   +8 more
doaj   +1 more source

A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes. [PDF]

PLoS ONE, 2012
Humans have two near identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Loss of SMN1 coupled with the predominant skipping of SMN2 exon 7 causes spinal muscular atrophy (SMA), a neurodegenerative disease.
Natalia N Singh, Joonbae Seo, Sarah J Rahn, Ravindra N Singh   +3 more
doaj   +1 more source