Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges
作者： Yusuke Echigoya , Kenji Rowel Q. Lim , Akinori Nakamura , Toshifumi Yokota
DOI: 10.3390/JPM8040041
关键词:
摘要: … Importantly, this review highlights the need for treating symptomatic patients not only with out-of-frame deletions but also those with in-frame deletions, as well as the need for rationally …
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doaj.org参考文章(146)
T Yokota, William Duddy, T Partridge, Optimizing exon skipping therapies for DMD. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases. ,vol. 26, pp. 179- 184 ,(2007)
U. Francke, B. T. Darras, A. H. Beggs, G. J. B. van Ommen, H. M. B. van Paassen, H. Moser, C. R. Greenberg, M. Denton, J.-C. Kaplan, G. Morgan, P. Murphy, L. M. Kunkel, J. D. Chen, V. Schneider, H. Kaariainen, L. A. J. Blonden, A. Kiuru, K. Wrogemann, S. Scherpf, K. Heindrich, G. Meng, S. Braga, D. Récan, N. Archidiacono, M. Moyer, M.-L. Savontaus, T. Bettecken, A. E. Covone, A. de la Chapelle, C. R. Müller, M. Lindlöf, H. Gilgenkrantz, J. Chelly, M. Koenig, S. Liechti-Gallati, G. Romeo, THE MOLECULAR BASIS FOR DUCHENNE VERSUS BECKER MUSCULAR DYSTROPHY: CORRELATION OF SEVERITY WITH TYPE OF DELETION American Journal of Human Genetics. ,vol. 45, pp. 498- 506 ,(1989)
Kiichi Arahata, Alan H. Beggs, Eric P. Hoffman, Hideo Sugita, Linda Specht, Corrado Angelini, Louis M. Kunkel, Frederic Shapiro, Judith R. Snyder, Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. American Journal of Human Genetics. ,vol. 49, pp. 54- 67 ,(1991)
Luisa Politano, Marianna Scutifero, Manuela Ergoli, Roberta Petillo, Antonella Taglia, Esther Picillo, Annalaura Torella, Alberto Palladino, Paola D'ambrosio, Gerardo Nigro, Chiara Orsini, Luigia Passamano, Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases. ,vol. 34, pp. 9- 13 ,(2015)
Akinori Nakamura, X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy Pharmaceuticals, policy and law. ,vol. 8, pp. 303- 320 ,(2015) , 10.3390/PH8020303
V Dubowitz, J Z Heckmatt, G Miller, P N Ray, S B Gangopadhyay, P N Strong, M Shokeir, R G Worton, T G Sherratt, Dystrophin in frameshift deletion patients with Becker muscular dystrophy. American Journal of Human Genetics. ,vol. 51, pp. 562- 570 ,(1992)
Yusuke Echigoya, Toshifumi Yokota, Skipping Multiple Exons of Dystrophin Transcripts Using Cocktail Antisense Oligonucleotides Nucleic Acid Therapeutics. ,vol. 24, pp. 57- 68 ,(2014) , 10.1089/NAT.2013.0451
Luca Bello, Akanchha Kesari, Heather Gordish‐Dressman, Avital Cnaan, Lauren P Morgenroth, Jaya Punetha, Tina Duong, Erik K Henricson, Elena Pegoraro, Craig M McDonald, Eric P Hoffman, Cooperative International Neuromuscular Research Group Investigators, None, Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study. Annals of Neurology. ,vol. 77, pp. 684- 696 ,(2015) , 10.1002/ANA.24370
Babi Ramesh Reddy Nallamilli, Arunkanth Ankala, Madhuri Hegde, Molecular Diagnosis of Duchenne Muscular Dystrophy Current protocols in human genetics. ,vol. 83, ,(2014) , 10.1002/0471142905.HG0925S83
Umar Burki, Jonathan Keane, Alison Blain, Liz O'Donovan, Michael John Gait, Steven H. Laval, Volker Straub, Development and Application of an Ultrasensitive Hybridization-Based ELISA Method for the Determination of Peptide-Conjugated Phosphorodiamidate Morpholino Oligonucleotides. Nucleic Acid Therapeutics. ,vol. 25, pp. 275- 284 ,(2015) , 10.1089/NAT.2014.0528