Results 1 to 10 of about 127,159 (238)

Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study

Children, 2023
Introduction: The Performance of Upper Limb version 2.0 (PUL 2.0) is increasingly used in Duchenne Muscular Dystrophy (DMD) to study longitudinal functional changes of motor upper limb function in ambulant and non-ambulant patients. The aim of this study
Claudia Brogna, Marika Pane, Giorgia Coratti, Adele D’Amico, Elena Pegoraro, Luca Bello, Valeria Ada Maria Sansone, Emilio Albamonte, Sonia Messina, Antonella Pini, Maria Grazia D’Angelo, Claudio Bruno, Tiziana Mongini, Federica Silvia Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Enrico Silvio Bertini, Luisa Politano, Eugenio Mercuri, Italian DMD Group   +20 more
doaj   +1 more source

Cwf16p Associating with the Nineteen Complex Ensures Ordered Exon Joining in Constitutive Pre-mRNA Splicing in Fission Yeast. [PDF]

PLoS ONE, 2015
Exons are ligated in an ordered manner without the skipping of exons in the constitutive splicing of pre-mRNAs with multiple introns. To identify factors ensuring ordered exon joining in constitutive pre-mRNA splicing, we previously screened for exon ...
Noriko Sasaki-Haraguchi, Takeshi Ikuyama, Shogo Yoshii, Tomoko Takeuchi-Andoh, David Frendewey, Tokio Tani   +5 more
doaj   +1 more source

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

Scientific Reports, 2021
Duchenne Muscular Dystrophy (DMD) is a lethal progressive muscle-wasting disease. New treatment strategies relying on DMD gene exon-skipping therapy have recently been approved and about 30% of patients could be amenable to exon 51, 53 or 45 skipping. We
Pablo Beckers, Jean-Hubert Caberg, Vinciane Dideberg, Tamara Dangouloff, Johan T. den Dunnen, Vincent Bours, Laurent Servais, François Boemer   +7 more
doaj   +1 more source

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

Journal of Translational Medicine, 2023
Background ABCA4, the gene implicated in Stargardt disease (STGD1), contains 50 exons, of which 17 contain multiples of three nucleotides. The impact of in-frame exon skipping is yet to be determined.
Melita Kaltak, Rocio Blanco-Garavito, Laurie L. Molday, Claire-Marie Dhaenens, Eric E. Souied, Gerard Platenburg, Jim Swildens, Robert S. Molday, Frans P. M. Cremers   +8 more
doaj   +1 more source

Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping

Molecular Therapy: Methods & Clinical Development, 2021
Duchenne muscular dystrophy (DMD) is an X-linked progressive disease characterized by loss of dystrophin protein that typically results from truncating mutations in the DMD gene.
Tabatha R. Simmons, Tatyana A. Vetter, Nianyuan Huang, Adeline Vulin-Chaffiol, Nicolas Wein, Kevin M. Flanigan   +5 more
doaj   +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

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

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

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