Results 191 to 200 of about 30,223 (276)

Efficient Modulation of Exon Skipping via Antisense Circular RNAs. [PDF]

Research (Wash D C), 2023
Ren S, Huang M, Bai R, Chen L, Yang J, Zhang J, Guo W, Ji W, Chen Y.   +8 more
europepmc   +1 more source

Volitional exercise elicits physiological and molecular improvements in the severe D2.mdx mouse model of Duchenne muscular dystrophy

The Journal of Physiology, Volume 604, Issue 2, Page 849-867, 15 January 2026.
Abstract figure legend This study investigated the effects of volitional exercise on muscle health in the more severe D2.mdx model of Duchenne muscular dystrophy (DMD). We showed that 8–10 weeks of a relatively high volume of voluntary wheel running (VWR) in D2.mdx animals augmented select muscle mass and normalized ex vivo muscle force compared to ...
Stephanie R. Mattina, Sean Y. Ng, Andrew I. Mikhail, Derek W. Stouth, Cora E. Jornacion, Irena A. Rebalka, Thomas J. Hawke, Vladimir Ljubicic   +7 more
wiley   +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

Supplementary Table 1 from Exon 11 Skipping of E-Cadherin RNA Downregulates Its Expression in Head and Neck Cancer Cells

, 2023
Sanjai Sharma, Wei Liao, Xiaofeng Zhou, David T. Wong, Alan Lichtenstein   +4 more
openalex   +1 more source

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
We report an 11‐year‐old Hispanic male with a PPP1R12A gene de novo heterozygous likely pathogenic mutation, p. (Gln13Arg) (CAG>CGG), c.38 A > G in Exon 1 (NM_002480.2), detected on whole‐exome trio sequencing during his short‐stature evaluation.
Rosita Saul, Maya David, Jordin Frasch, Pedro A. Sanchez-Lara, Bahareh M. Schweiger, Andrea Scaramuzza   +5 more
wiley   +1 more source

Progress and prospects in antisense oligonucleotide-mediated exon skipping therapies for Duchenne muscular dystrophy. [PDF]

J Muscle Res Cell Motil
Chwalenia K, Wood MJA, Roberts TC.
europepmc   +1 more source

Dual CRISPR-Cas3 system for inducing multi-exon skipping in DMD patient-derived iPSCs. [PDF]

Stem Cell Reports, 2023
Kita Y, Okuzaki Y, Naoe Y, Lee J, Bang U, Okawa N, Ichiki A, Jonouchi T, Sakurai H, Kojima Y, Hotta A.   +10 more
europepmc   +1 more source

MET exon 14 skipping mutations and gene amplification in a Taiwanese lung cancer population

, 2019
Jrhau Lung, Ming‐Szu Hung, Yu‐Ching Lin, Kam-Fai Lee, Yuan Jiang, Shao-Lan Huang, Yu‐Hung Fang, Ming‐Shian Lu, Chin‐Kuo Lin, Tsung‐Ming Yang, Paul Y. Lin, Meng‐Jer Hsieh, Ying Tsai   +12 more
openalex   +2 more sources

Supplemental Figure S3 from Co-occurring Alterations in the RAS–MAPK Pathway Limit Response to MET Inhibitor Treatment in MET Exon 14 Skipping Mutation-Positive Lung Cancer

, 2023
Julia Rotow, Philippe Gui, Wei Wu, Victoria M. Raymond, Richard B. Lanman, Frederic J. Kaye, Nir Peled, Ferran Fece de la Cruz, Brandon Nadres, Ryan B. Corcoran, Iwei Yeh, Boris C. Bastian, Petr Starostik, Kimberly J. Newsom, Victor Olivas, Alexander M. Wolff, James S. Fraser, Eric A. Collisson, Caroline E. McCoach, D. Ross Camidge, J. A. de Freitas Pacheco, Lyudmila Bazhenova, Tianhong Li, Trever G. Bivona, Collin M. Blakely   +24 more
openalex   +1 more source

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source