Results 81 to 90 of about 49,802 (297)

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

Snord15b Maintains Stemness of Intestinal Stem Cells via Enhancement of Alternative Splicing of Btrc Short Isoform for Suppression of β‐Catenin Ubiquitination

Advanced Science, EarlyView.
In intestinal stem cells (ISCs), Snord15b associates with Ilf2 to recruit splicing factors for alternative splicing of Btrc mRNA, leading to the generation of short Btrc. This short Btrc fails to form a functional E3 ubiquitin ligase complex for β‐catenin ubiquitination and degradation.
Yuwei Xu, Peikang Zhang, Zhen Xiong, Yufei Lan, Hui Guo, Runyuan Wu, Cunzhen Li, Hongzhe Fan, Ying Du, Xiaoxiao Zhu, Dongdong Fan, Zhonglong Wang, Yong Tian, Zusen Fan   +13 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

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6

, 2011
Missense, nonsense and translationally silent mutations can inactivate genes by altering the inclusion of mutant exons in mRNA, but their overall frequency amongst disease-causing exonic substitutions is unknown.
Baralle, Diana, Copson, Ellen, Divina, Petr, Eccles, Diana, Johnson, Peter, Kralovicova, Jana, Raponi, Michela, Vorechovsky, Igor   +7 more
core   +2 more sources

Erratum: Therapeutic exon skipping for dysferlinopathies? [PDF]

European Journal of Human Genetics, 2010
Correction to: European Journal of Human Genetics advance online publication, 10 February 2010; doi:10.1038/ejhg.2010.4 The authors of this paper apologise for having to report an error in Figure 3 and Table 2. The corrected figure and table are presented below.
Kavita H K Singh, Ivo F.A.C. Fokkema, Gert-Jan B. van Ommen, Silvère M. van der Maarel, Ieke B. Ginjaar, Johan T. den Dunnen, Annemieke Aartsma-Rus   +6 more
openaire   +1 more source

Arid1a Deficiency Drives Aristolochic Acid‐Induced Liver Tumorigenesis through Ctnnb1 Mutation and Defective Nucleotide Excision Repair

Advanced Science, EarlyView.
ARID1A is frequently mutated in both non‐malignant tissues and cancers, but its role in tumor development after exposure to genotoxic carcinogen remains unclear. It is found that aristolochic acid I accelerated liver tumorigenesis in ARID1A‐deficient context by impairing nucleotide excision repair and enhancing carcinogen bioactivation, revealing key ...
Lan Wang, Shi‐Hao Bai, Shu‐Jin Song, Xiao‐Li Zhang, Xue‐Ying Shang, Zhao‐Ning Lu, Xiao‐Fang Cui, Xin‐Le Zhu, Ze‐Guang Han   +8 more
wiley   +1 more source

Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient. [PDF]

PLoS ONE, 2010
BACKGROUND: Antisense oligonucleotide-induced exon skipping is a promising approach for treatment of Duchenne muscular dystrophy (DMD). We have systemically administered an antisense phosphorodiamidate morpholino oligomer (PMO) targeting dystrophin exons
Takashi Saito, Akinori Nakamura, Yoshitsugu Aoki, Toshifumi Yokota, Takashi Okada, Makiko Osawa, Shin'ichi Takeda   +6 more
doaj   +1 more source

TranspoGene and microTranspoGene: transposed elements influence on the transcriptome of seven vertebrates and invertebrates [PDF]

, 2008
Transposed elements (TEs) are mobile genetic sequences. During the evolution of eukaryotes TEs were inserted into active protein-coding genes, affecting gene structure, expression and splicing patterns, and protein sequences.
Asaf Levy, Biemont, Borchert, Callinan, Clark, Consortium, Dagan, Deininger, Deininger, Gasteiger, Giardine, Gil Ast, Griffiths-Jones, Han, Hedges, Houwing, Johnson, Jordan, Jurka, Karolchik, Kent, Kim, Kim, Kuhn, Lander, Lev-Maor, Lippman, Lorenc, Makalowski, Martignetti, McKusick, Morgan, Noa Sela, Pasyukova, Piriyapongsa, Pruitt, Sayah, Sela, Smalheiser, Smalheiser, Sorek, Sorek, Thornburg, Waterston   +43 more
core   +3 more sources

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source