Results 71 to 80 of about 51,494 (318)

Exon 7 splicing of ERα predicts poor prognosis and increases phenotypic heterogeneity in luminal a subtype breast cancer

FEBS Open Bio, EarlyView.
ERα splice variant ERα∆7 lacks the C‐terminus, and its expression may change phenotypes of breast cancers. Our results showed that ERα∆7 is found in the luminal A subtype, and elevated ERα∆7 levels are linked to improved cell survival with lower proliferation and migration.
Long Wai Tsui, Taobo Hu, Thomson Christian Husein, Wai Hei Shek, Bingrong Chen, Depeng Wang, Shu Wang, Weichuan Yu, Xiaodan Fan, Mengping Long, Toyotaka Ishibashi   +10 more
wiley   +1 more source

Comprehensive analysis of mutations in NSCLC patients in a real-world setting

Therapeutic Advances in Medical Oncology, 2022
Background: Aberrant mesenchymal–epithelial transition/hepatocyte growth factor (MET/HGF) regulation presented in a wide variety of human cancers. MET exon 14 skipping, copy number gain (CNG), and kinase domain mutations/arrangements were associated with
Xinghao Ai, Yongfeng Yu, Jun Zhao, Wang Sheng, Jing Bai, Zaiwen Fan, Xuemei Liu, Wenxiang Ji, Rongrong Chen, Shun Lu   +9 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using Campylobacter jejuni Cas9 [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle wasting disease caused by mutations in the DMD gene. In 51% of DMD cases, a reading frame is disrupted because of deletion of several exons.
Cappellari, O, Cho, H-Y, Dickson, G, Kim, D, Kim, E, Kim, J-S, Koo, T, Lu-Nguyen, N B, Malerba, A, Popplewell, L   +9 more
core   +2 more sources

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

CRISPR-induced exon skipping is dependent on premature termination codon mutations

Genome Biology, 2018
In previous studies, CRISPR/Cas9 was shown to induce unexpected exon skipping; however, the mechanism by which this phenomenon is triggered is controversial.
Tingting Sui, Yuning Song, Zhiquan Liu, Mao Chen, Jichao Deng, Yuanyuan Xu, Liangxue Lai, Zhanjun Li   +7 more
doaj   +1 more source

A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa

Molecular Therapy: Nucleic Acids, 2023
Loss-of-function mutations in USH2A are among the most common causes of syndromic and non-syndromic retinitis pigmentosa (RP). We previously presented skipping of USH2A exon 13 as a promising treatment paradigm for USH2A-associated RP.
Renske T.W. Schellens, Sanne Broekman, Theo Peters, Pam Graave, Lucija Malinar, Hanka Venselaar, Hannie Kremer, Erik De Vrieze, Erwin Van Wijk   +8 more
doaj   +1 more source

Genetic Control of Tissue Remodeling by a Non‐Coding SNP in ITGA8 Explains Carotenoid‐Based Color Polymorphism in Marine Mollusks

Advanced Science, EarlyView.
In this study, the orange‐muscle giant abalone (Haliotis gigantea) is used as a model to identify a non‐coding SNP that disrupts the interaction between ITGA8 pre‐mRNA and the splicing factor ILF2, leading to altered ITGA8 splicing. These splicing changes promote carotenoid accumulation in abalone muscle through the regulation of tissue remodeling ...
Xiaohui Wei, Wenzhu Peng, Zekun Huang, Bingye Yang, Yiyu Wu, Minzhen Han, Yi Wang, Bingling Peng, Guosheng Hu, Jiawei Hong, Guijia Liu, Linwei Nie, Yang Gan, Miaoqin Huang, Xuan Luo, Weiwei You, Wen Liu, Caihuan Ke   +17 more
wiley   +1 more source

Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I

Molecular Therapy: Nucleic Acids, 2022
We investigated the feasibility of utilizing an exon-skipping approach as a genotype-dependent therapeutic for neurofibromatosis type 1 (NF1) by determining which NF1 exons might be skipped while maintaining neurofibromin protein expression and GTPase ...
André Leier, Marc Moore, Hui Liu, Michael Daniel, Alexis M. Hyde, Ludwine Messiaen, Bruce R. Korf, Jamuna Selvakumaran, Lukasz Ciszewski, Laura Lambert, Jeremy Foote, Margaret R. Wallace, Robert A. Kesterson, George Dickson, Linda Popplewell, Deeann Wallis   +15 more
doaj   +1 more source

Exploration of alternative splicing events in ten different grapevine cultivars [PDF]

, 2015
Background: The complex dynamics of gene regulation in plants are still far from being fully understood. Among many factors involved, alternative splicing (AS) in particular is one of the least well documented.
Asquini, Elisa, Cestaro, Alessandro, Coller, Emanuela, Potenza, Emilio, Racchi, Milvia Luisa, Sterck, Lieven, Tosatto, Silvio CE, Van de Peer, Yves, Velasco, Riccardo   +8 more
core   +7 more sources