Results 241 to 250 of about 51,494 (318)

Severe Clinical Phenotype in Alport Syndrome Due to 2 <i>COL4A4</i> Exon-Skipping Events. [PDF]

Kidney Med
Pleško J, Kojc N, Kert Š, Petrin S, Matjašič A, Meglič A, Zupan A.   +6 more
europepmc   +1 more source

Implications for Cardiac Function Following Rescue of the Dystrophic Diaphragm in a Mouse Model of Duchenne Muscular Dystrophy [PDF]

A Asai, A Crisp, A De Troyer, A Malerba, A Malerba, A Malerba, BJ Petrof, C Betts, C Kirchmann, CF Spurney, DJ Stuckey, DM Connuck, G Dickson, G Nigro, H Yin, H Yin, J Alter, J Kuroda, J Morrison, JG Quinlan, JM Costas, JO Benditt, JW Carnwath, K Ito, K Ohlendieck, L Loufrani, L Loufrani, L Loufrani, M Ishizaki, M Ishizaki, M Mosqueira, M Palladino, MG Dunckley, N Jearawiriyapaisarn, P Melacini, QL Lu, S Fletcher, SD Wilton   +37 more
core   +1 more source

Commitment to Myogenic Differentiation Significantly Aggravates the RNA Phenotype in Myotonic Dystrophy Type 1

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
DM1 myoblasts show mild defects, but RNA toxicity intensifies upon differentiation, where broad gene‐expression changes and escalating MBNL1‐driven splicing defects disrupt muscle‐specific pathways, underscoring a key vulnerability at the transition from myogenic precursor cells to myofibres in patients. ABSTRACT Aims Myotonic dystrophy type 1 (DM1) is
Lise Ripken, Walther J. A. A. van den Broek, Remco T. P. van Cruchten, Jos G. A. Smits, Tabea V. Riepe, Peter A. C. 't Hoen, Derick G. Wansink   +6 more
wiley   +1 more source

Effect of chemical modification on the exon-skipping activity of heteroduplex oligonucleotides. [PDF]

Mol Ther Nucleic Acids
Shimo T, Hasegawa J, Yoshioka K, Nakatsuji Y, Aso K, Tachibana K, Nagata T, Yokota T, Obika S.   +8 more
europepmc   +1 more source

Rgr gene mutation and exon-skipping RGR mRNA in mice

, 2017
Zhaoxia Zhang, Henry Fong
openalex   +1 more source

Haplotype‐Resolved Genome Assembly and Population Genomics Reveal Evolutionary History and Agronomic Traits of Mulberry

Plant Biotechnology Journal, Volume 24, Issue 4, Page 2105-2122, April 2026.
ABSTRACT Mulberry is a representative economic tree species valued for both poverty alleviation and medicinal use. To advance the understanding of mulberry genomics and demography, we assembled high‐quality haploid genomes of two widely cultivated mulberry varieties NS14 and QS1, and analysed 376 accessions from 12 countries, including 39 ancient trees
Zhifeng Wang, Peigang Liu, Chengzhi Jiao, Yazhou Zhang, Zilong Xu, Tianbao Lin, Yan Zhu, Xin Jing, Yuan Huang, Nan Chao, Mengjie Zhao, Yan Liu, Huizi Liu, Bo Sun, Fen Zhang, Quanzi Li, Zhiqiang Lv, Xuepeng Sun, Ying‐Chung Jimmy Lin, Jia Wei   +19 more
wiley   +1 more source

DG9 boosts PMO nuclear uptake and exon skipping to restore dystrophic muscle and cardiac function. [PDF]

Nat Commun
Shah MNA, Wilton-Clark H, Haque F, Powell B, Sutanto LE, Maradiya R, Zhabyeyev P, Roshmi RR, Anwar S, Aslesh T, Lim KRQ, Maruyama R, Bigot A, Young CS, Bittner S, Spencer MJ, Moulton HM, Oudit GY, Yokota T.   +18 more
europepmc   +1 more source

NOTCH3 CADASIL Variant Receptor Aggregation Requires NOTCH3 Wild‐Type Receptors: Identification of Highly Selective Inhibitors That Block the Process

The FASEB Journal, Volume 40, Issue 6, 31 March 2026.
CADASIL is the major cause of early‐onset stroke and cognitive dysfunction, including dementia. It is caused by mutations in the NOTCH3 receptor that result in the formation of protein aggregates in the small vessel walls of the brain. We demonstrated that NOTCH3 CADASIL variant receptor aggregation is strictly dependent on interactions with NOTCH3 ...
Haijiang Wang, Xinxin Liu, Gido Gravesteijn, Alessia Atella, Jin Liu, Julie W. Rutten, Peter ten Dijke, Manuel A. F. V. Gonçalves, Saskia A. J. Lesnik Oberstein, David A. Baker   +9 more
wiley   +1 more source

Valproic Acid Improves Antisense-Mediated Exon-Skipping Efficacy in <i>mdx</i> Mice. [PDF]

Int J Mol Sci
Phongsavanh M, Bizot F, Saoudi A, Gastaldi C, Le Coz O, Tensorer T, Brisebard E, Garcia L, Goyenvalle A.   +8 more
europepmc   +1 more source

Alternative spliceosomal protein Eftud2 mediated Kif3a exon skipping promotes SHH-subgroup medulloblastoma progression. [PDF]

Cell Death Differ
Li Y, Chen L, Xue S, Song Z, Liu H, Li H, Shen W, Zhang C, Wu H.   +8 more
europepmc   +1 more source