Results 21 to 30 of about 51,494 (318)

Advances in Dystrophinopathy Diagnosis and Therapy

Biomolecules, 2023
Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated cardiomyopathy.
Fawzy A. Saad, Gabriele Siciliano, Corrado Angelini   +2 more
doaj   +1 more source

Origin of exon skipping-rich transcriptomes in animals driven by evolution of gene architecture

Genome Biology, 2018
Background Alternative splicing, particularly through intron retention and exon skipping, is a major layer of pre-translational regulation in eukaryotes.
Xavier Grau-Bové, Iñaki Ruiz-Trillo, Manuel Irimia   +2 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

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

Investigating synthetic oligonucleotide targeting of miR31 in Duchenne muscular dystrophy [PDF]

, 2016
Exon-skipping via synthetic antisense oligonucleotides represents one of the most promising potential therapies for Duchenne muscular dystrophy (DMD), yet this approach is highly sequence-specific and thus each oligonucleotide is of benefit to only a ...
Hildyard, J C W, Wells, D J
core   +1 more source

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer [PDF]

, 2016
Costello syndrome (CS) may be caused by activating mutations in codon 12/13 of the HRAS proto-oncogene. HRAS p.Gly12Val mutations have the highest transforming activity, are very frequent in cancers, but very rare in CS, where they are reported to cause ...
Amy Calhoun, Anne-Mette Hartung, Barbara Guerra, Brage S Andresen, Cecily Vaughn, David A Stevenson, Henriette Skovgaard Andersen, Inaki E Uriz, Jeanne Mari V Bang, Jeff Swensen, John C Carey, Karen Kristjansdottir, Lars Dyrskjøt, Martin R Larsen, Morten Lapin, Ping Yu, Steven F Dobrowolski, Ulrika S S Petersen   +17 more
core   +12 more sources

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

Nucleobase-modified antisense oligonucleotides containing 5-(phenyltriazol)-2′-deoxyuridine nucleotides induce exon-skipping:In vitro [PDF]

, 2017
We investigated the potential of nucleobase-modified antisense oligonucleotides to induce exon-skipping, and found that 5-(phenyltriazol)-2′-deoxyuridine-modified antisense oligonucleotides induced efficient exon-skipping in vitro.
Hornum, Mick, Le, Bao T., Nielsen, Poul, Sharma, Pawan K., Veedu, Rakesh N.   +4 more
core   +1 more source