Results 141 to 150 of about 30,223 (276)

Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3 [PDF]

, 2016
Lodewijk J.A. Toonen, Iris Schmidt, Martijn S. Luijsterburg, Haico van Attikum, Willeke van Roon‐Mom   +4 more
openalex   +1 more source

The Mutation Patterns of MET Gene in Lung Cancer and Brain Tumors: Clinical and Therapeutic Implications

Cancer Medicine, Volume 15, Issue 1, January 2026.
ABSTRACT Objectives MET aberrations are capable of triggering oncogenesis through multiple clinical significance genomic alterations. In non‐small cell lung cancer, MET exon 14 skipping and MET amplification confer sensitivity to MET tyrosine kinase inhibitors. The MET gene is also one of the druggable genes in high‐grade gliomas. However, a systematic
Yu Zhang, Ningning Luo, Minghui Ge, Yanxiang Zhang, Dongsheng Chen, Yongmeng Li   +5 more
wiley   +1 more source

Prenatal Identification of a Novel ITGB4 Gene Mutation Associated With Junctional Epidermolysis Bullosa: A Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
Ultrasonographic characteristics of fetal junctional epidermolysis bullosa associated with ITGB4 gene mutation. ABSTRACT Homozygous or compound heterozygous mutations in the ITGB4 gene are associated with the pathogenesis of junctional epidermolysis bullosa, characterized by increased fragility of the skin and mucous membranes.
Qi Xu, Xiaofang Peng, Wenwen Ma, Xiaoqin Xiao, Liqiong Zhu, Na Di, Xiaojuan Li, Yinglin Liu   +7 more
wiley   +1 more source

Novel causative RYR2 indel variant with exon and intron involvement inducing exon 13 skipping in a family exhibiting catecholaminergic polymorphic ventricular tachycardia [PDF]

Ju Hyeon Shin, Taek Kyu Park, Sung‐A Chang, Shin Yi Jang, June Huh, Chang Ahn Seol, Kyoung‐Jin Park, Sung Hoon Kim, Duk‐Kyung Kim, Hye Bin Gwag, Mi‐Ae Jang   +10 more
openalex   +1 more source

Challenges and Limitations of Sequential MET‐TKI Therapy in METex14‐ Positive NSCLC With a Focus on Non‐ILD Toxicities: A Case Report

Cancer Reports, Volume 9, Issue 1, January 2026.
ABSTRACT Background Nonsmall cell lung cancer (NSCLC) with mesenchymal‐epithelial transition exon 14 skipping mutation (METex14) represents a distinct molecular subtype with limited therapeutic options. Selective MET tyrosine kinase inhibitors (MET‐TKIs) such as tepotinib, capmatinib, and gumarontinib have improved outcomes, but toxicities frequently ...
Akina Nigi, Toshikazu Kumasa, Keisuke Iwamoto, Hidetoshi Itani, Shigeto Kondou, Junji Uraki   +5 more
wiley   +1 more source

623. Dystrophin Exon 52-Deleted Pigs as a New Animal Model of Duchenne Muscular Dystrophy: Its Characterization and Potential as a Tool for Developing Exon Skipping Therapy [PDF]

, 2016
Yusuke Echigoya, Nhu Trieu, Kana Hosoki, William Duddy, Terence A. Partridge, Eric P. Hoffman, Joe N. Kornegay, Christopher S. Rogers, Toshifumi Yokota   +8 more
openalex   +1 more source

Exon-Skipping [PDF]

, 2018
openaire   +1 more source

Evolution of Plasticity in Response to Ethanol Between Recently Separated Populations of D. melanogaster With Different Ecological Histories

Ecology and Evolution, Volume 16, Issue 1, January 2026.
We identified: (1) differences in gene expression among each locale; (2) changes in gene expression in response to treatment; (3) genotype‐specific changes in gene expression in response to treatment. ABSTRACT While there is abundant theoretical work on the evolution of phenotype plasticity, empirical support has lagged.
George Boateng‐Sarfo, Franz Scherping, Murad Mammadov, Sarah Signor   +3 more
wiley   +1 more source

Circular RNAs as Biomarkers and Therapeutic Targets in Diabetic Cardiovascular Complications

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 1, January 2026.
This graphic abstract elaborates on the recent mechanism of circular RNAs (circRNAs) in the pathogenesis, diagnosis and treatment of diabetic cardiovascular complications. Diabetes mellitus induces oxidative/inflammatory stress, followed by endothelial dysfunction and leads to micro‐/macro‐vascular complications.
Shreya Singh Beniwal, Yujin Jeong, Akash Rawat, Mahmoud Einieh, Kashyapi Patil, Rafael Everton Assunção Ribeiro da Costa, Pulkit Saini, Kamal Yousef Ghazal, Abhijeet Kumar, Ayush Dwivedi, Anuja Anil Mandavkar   +10 more
wiley   +1 more source

Exon skipping peptide-conjugated morpholinos downregulate dynamin 2 to rescue centronuclear myopathy. [PDF]

Brain
Moschovaki-Filippidou F, de Carvalho Neves J, Diedhiou N, Jad Y, Böhm J, Wood MJA, Varela MA, Laporte J.   +7 more
europepmc   +1 more source