Results 21 to 30 of about 240,839 (324)

FDA Approval Summary: Capmatinib and Tepotinib for the Treatment of Metastatic NSCLC Harboring MET Exon 14 Skipping Mutations or Alterations

Clinical Cancer Research, 2021
The FDA approved capmatinib and tepotinib on May 6, 2020, and February 3, 2021, respectively. Capmatinib is indicated for patients with metastatic non–small cell lung cancer (mNSCLC) whose tumors have a mutation leading to mesenchymal–epithelial ...
Luckson N Mathieu, E. Larkins, Oladimeji Akinboro, Pourab Roy, Anup K Amatya, M. Fiero, Pallavi S Mishra-Kalyani, Whitney S. Helms, C. Myers, Amy M. Skinner, Stephanie L Aungst, Runyan Jin, Hong Zhao, Hu Xia, J. F. Zirkelbach, Y. Bi, Yangbing Li, Jiang Liu, Manuela Grimstein, Xinyuan Zhang, Stacie Woods, K. Reece, A. Abukhdeir, Soma Ghosh, Reena Philip, Shenghui Tang, Kirsten B. Goldberg, R. Pazdur, J. Beaver, H. Singh   +29 more
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A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures. [PDF]

PLoS ONE, 2018
BACKGROUND:Duchenne muscular dystrophy is a lethal disease caused by lack of dystrophin. Skipping of exons adjacent to out-of-frame deletions has proven to restore dystrophin expression in Duchenne patients.
Monika Hiller, Maria Sofia Falzarano, Iker Garcia-Jimenez, Valentina Sardone, Ruurd C Verheul, Linda Popplewell, Karen Anthony, Estibaliz Ruiz-Del-Yerro, Hana Osman, Jelle J Goeman, Kamel Mamchaoui, George Dickson, Alessandra Ferlini, Francesco Muntoni, Annemieke Aartsma-Rus, Virginia Arechavala-Gomeza, Nicole A Datson, Pietro Spitali   +17 more
doaj   +1 more source

Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: A randomized, double‐blind, placebo‐controlled, dose‐titration trial

Muscle and Nerve, 2021
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene resulting in the absence of dystrophin. Casimersen is a phosphorodiamidate morpholino oligomer designed to bypass frameshift DMD mutations and produce internally truncated, yet ...
K. Wagner, N. Kuntz, E. Koenig, L. East, S. Upadhyay, B. Han, P. Shieh   +6 more
semanticscholar   +1 more source

Effective exon skipping and dystrophin restoration by 2'-o-methoxyethyl antisense oligonucleotide in dystrophin-deficient mice. [PDF]

PLoS ONE, 2013
Antisense oligonucleotide (AO)-mediated exon-skipping therapy is one of the most promising therapeutic strategies for Duchenne Muscular Dystrophy (DMD) and several AO chemistries have been rigorously investigated. In this report, we focused on the effect
Lu Yang, Hongjing Niu, Xianjun Gao, Qingsong Wang, Gang Han, Limin Cao, Chunquan Cai, Jan Weiler, Haifang Yin   +8 more
doaj   +1 more source

MET Exon 14 Skipping Mutations in Non–Small-Cell Lung Cancer: An Overview of Biology, Clinical Outcomes, and Testing Considerations

JCO Precision Oncology, 2021
Today, approved targeted therapies are available for patients with NSCLC who are positive for oncogenic drivers such as EGFR, ALK, BRAF V600E, ROS1, NTRK1/2/3, RET, and MET exon 14 skipping mutations (METex14).
M. Socinski, N. Pennell, K. Davies
semanticscholar   +1 more source

Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial

Journal of Neuromuscular Diseases, 2021
Background Eteplirsen received accelerated FDA approval for treatment of Duchenne muscular dystrophy (DMD) with mutations amenable to exon 51 skipping, based on demonstrated dystrophin production.
C. McDonald, P. Shieh, H. Abdel-Hamid, A. Connolly, E. Ciafaloni, K. Wagner, N. Goemans, E. Mercuri, N. Khan, E. Koenig, Jyoti Malhotra, Wenfei Zhang, B. Han, J. Mendell   +13 more
semanticscholar   +1 more source

Pairwise Engineering of Tandemly Aligned Self-Splicing Group I Introns for Analysis and Control of Their Alternative Splicing

Biomolecules, 2023
Alternative splicing is an important mechanism in the process of eukaryotic nuclear mRNA precursors producing multiple protein products from a single gene.
Tomoki Ueda, Kei-ichiro Nishimura, Yuka Nishiyama, Yuto Tominaga, Katsushi Miyazaki, Hiroyuki Furuta, Shigeyoshi Matsumura, Yoshiya Ikawa   +7 more
doaj   +1 more source

Tepotinib in Non-Small-Cell Lung Cancer with MET Exon 14 Skipping Mutations.

New England Journal of Medicine, 2020
BACKGROUND A splice-site mutation that results in a loss of transcription of exon 14 in the oncogenic driver MET occurs in 3 to 4% of patients with non-small-cell lung cancer (NSCLC).
P. Paik, E. Felip, R. Veillon, H. Sakai, A. Cortot, M. Garassino, J. Mazières, S. Viteri, H. Sénellart, J. V. van Meerbeeck, J. Raskin, N. Reinmuth, PierFranco Conte, D. Kowalski, B. Cho, J. Patel, L. Horn, F. Griesinger, Ji-Youn Han, Young-chul Kim, G. Chang, Chen-Liang Tsai, Jie Yang, Yuh-Min Chen, E. Smit, A. van der Wekken, T. Kato, D. Juraeva, C. Stroh, R. Bruns, J. Straub, A. Johne, J. Scheele, J. Heymach, X. Le   +34 more
semanticscholar   +1 more source

Therapeutic Exon Skipping Through a CRISPR-Guided Cytidine Deaminase Rescues Dystrophic Cardiomyopathy in Vivo

Circulation, 2021
Supplemental Digital Content is available in the text. Background: Loss of dystrophin protein causes Duchenne muscular dystrophy (DMD), characterized by progressive degeneration of cardiac and skeletal muscles, and mortality in adolescence or young ...
Jia Li, Kaiying Wang, Yuchen Zhang, Tuan Qi, Juanjuan Yuan, Lei Zhang, Hanmin Qiu, Jinxi Wang, Huang-Tian Yang, Y. Dai, Yan Song, Xing Chang   +11 more
semanticscholar   +1 more source

Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa

International Journal of Molecular Sciences, 2021
Intermediate junctional epidermolysis bullosa caused by mutations in the COL17A1 gene is characterized by the frequent development of blisters and erosions on the skin and mucous membranes.
M. Ablinger, Thomas Lettner, N. Friedl, H. Potocki, Theresa Palmetzhofer, U. Koller, J. Illmer, B. Liemberger, S. Hainzl, A. Klausegger, M. Reisenberger, J. Lambert, M. Van Gele, Eline Desmet, Els Van Maelsaeke, M. Wimmer, R. Zauner, J. Bauer, V. Wally   +18 more
semanticscholar   +1 more source