Results 251 to 260 of about 240,839 (324)

Histone deacetylase inhibitors improve antisense-mediated exon-skipping efficacy in mdx mice. [PDF]

Mol Ther Nucleic Acids, 2022
Bizot F, Goossens R, Tensorer T, Dmitriev S, Garcia L, Aartsma-Rus A, Spitali P, Goyenvalle A.   +7 more
europepmc   +1 more source

Nuclear Factor TDP-43 Binds to the Polymorphic TG Repeats in CFTR Intron 8 and Causes Skipping of Exon 9: A Functional Link with Disease Penetrance [PDF]

, 2004
Emanuele Buratti, Antonia Brindisi, Franco Pagani, Francisco E. Baralle   +3 more
openalex   +1 more source

Alternative Splicing Alterations in Patients With Amyotrophic Lateral Sclerosis: Link to the Disruption of TAR DNA‐Binding Protein 43 kDa Functions

Neurology and Clinical Neuroscience, Volume 13, Issue 3, Page 187-194, May 2025.
ABSTRACT Background Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease that causes degeneration of both upper and lower motor neurons. TAR DNA‐binding protein 43 kDa (TDP‐43) is mislocalized in the motor neurons of patients with ALS. TDP‐43 regulates RNA metabolism, including alternative splicing.
Takashi Miwa, Eriko Takeuchi, Kotaro Ogawa, Rehab F. Abdelhamid, Junko Morita, Yuri Hiraki, Yoshiaki Yasumizu, Yamami Nakamura, Naganari Ohkura, Yuko Saito, Shigeo Murayama, Yoshitaka Nagai, Hideki Mochizuki, Seiichi Nagano   +13 more
wiley   +1 more source

PTBP3 Mediates IL-18 Exon Skipping to Promote Immune Escape in Gallbladder Cancer. [PDF]

Adv Sci (Weinh)
Zhao C, Zhao JW, Zhang YH, Zhu YD, Yang ZY, Liu SL, Tang QY, Yang Y, Wang HK, Shu YJ, Dong P, Wu XS, Gong W.   +12 more
europepmc   +1 more source

Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy. [PDF]

Genes (Basel), 2022
Eser G, Topaloğlu H.
europepmc   +1 more source

A Novel Role for Coilin in Vertebrate Innate Immunity

The FASEB Journal, Volume 39, Issue 8, 30 April 2025.
In this work, the coilin protein was reduced in human cells, and a novel zebrafish model was followed by treatment with an inducer (lipopolysaccharide) of the innate immunity pathway. RNA sequencing techniques were used to identify differential gene expression and, along with a neutrophil migration assay, demonstrated that coilin promotes a robust ...
Douglas M. McLaurin, Sara K. Tucker, Shanzida J. Siddique, Lavanya Challagundla, Yann Gibert, Michael D. Hebert   +5 more
wiley   +1 more source

Investigation of exon skipping therapy in kidney organoids from Alport syndrome patients derived iPSCs. [PDF]

Genes Cells
Yabuuchi K, Horinouchi T, Yamamura T, Nozu K, Takasato M.   +4 more
europepmc   +1 more source

The exon-skipping oligonucleotide, KitStop, depletes tissue-resident mast cells in vivo to ameliorate anaphylaxis. [PDF]

Front Immunol, 2023
Hedgespeth BA, Snider DB, Bitting KJ, Cruse G.   +3 more
europepmc   +1 more source

A novel PHF6 mutation results in enhanced exon skipping and mild Borjeson-Forssman-Lehmann syndrome [PDF]

, 2004
Dominic Vallée
openalex   +1 more source

Systematic deletion of symmetrical CFTR exons reveals new therapeutic targets for exon skipping antisense oligonucleotides. [PDF]

NAR Mol Med
Pena-Rasgado C, Rodriguez-Manriquez E, Dundr M, Bridges RJ, Hastings ML, Michaels WE.   +5 more
europepmc   +1 more source