Results 61 to 70 of about 30,223 (276)

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

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

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 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

Prevention of early-onset cardiomyopathy in Dmd exon 52–54 deletion mice by CRISPR-Cas9-mediated exon skipping [PDF]

, 2023
M. Rok, Tatianna Wai Ying Wong, Eleonora Maino, Abdalla Ahmed, Grace Meijuan Yang, Elzbieta Hyatt, Kyle Lindsay, Sina Fatehi, Ryan M. Marks, Paul Delgado-Olguı́n, Evgueni A. Ivakine, Ronald D. Cohn   +11 more
openalex   +1 more source

Conserved sequence elements associated with exon skipping [PDF]

Nucleic Acids Research, 2003
One of the major forms of alternative splicing, which generates multiple mRNA isoforms differing in the precise combinations of their exon sequences, is exon skipping. While in constitutive splicing all exons are included, in the skipped pattern(s) one or more exons are skipped.
Elana, Miriami, Hanah, Margalit, Ruth, Sperling   +2 more
openaire   +2 more sources

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Possibility of exon skipping therapy for Duchenne muscular dystrophy in Russian patients: present and future

Нервно-мышечные болезни
Background. Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in children, that occurs between one and three years of age.
E. V. Zinina, M. V. Bulakh, O. P. Ryzhkova, O. A. Shchagina, A. V. Polyakov   +4 more
doaj   +1 more source

Real-World Experience in Treatment of Patients with Non-Small-Cell Lung Cancer with BRAF or cMET Exon 14 Skipping Mutations [PDF]

, 2023
Urška Janžič, Walid Shalata, Katarzyna Szymczak-Kulus, Rafał Dziadziuszko, Marko Jakopović, Giannis Mountzios, Adam Płużański, António Araújo, Andriani Charpidou, Abed Agbarya   +9 more
openalex   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source