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Items: 1 to 20 of 247

1.
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy
Angela Lek, Brenda Wong, Allison Keeler, Meghan Blackwood, Kaiyue Ma, Shushu Huang, Katelyn Sylvia, A. Rita Batista, Rebecca Artinian, Danielle Kokoski, Shestruma Parajuli, Juan Putra, C. Katte Carreon, Hart Lidov, Keryn Woodman, Sander Pajusalu, Janelle M. Spinazzola, Thomas Gallagher, Joan LaRovere, Diane Balderson, Lauren Black, Keith Sutton, Richard Horgan, Monkol Lek, Terence Flotte
N Engl J Med. Author manuscript; available in PMC 2024 Jul 30.
Published in final edited form as: N Engl J Med. 2023 Sep 28; 389(13): 1203–1210. doi: 10.1056/NEJMoa2307798
PMCID:
PMC11288170
AbstractArticlePDF–1.0M
2.
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism
Jianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan Xu
J Med Genet. 2024 Aug; 61(8): 741–749. Published online 2024 Apr 15. doi: 10.1136/jmg-2024-109896
PMCID:
PMC11287555
AbstractArticlePDF–4.2M
3.
Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue
T. Haenggi, J. -M. Fritschy
Cell Mol Life Sci. 2006 Jul; 63(14): 1614–1631. Published online 2006 May 15. doi: 10.1007/s00018-005-5461-0
PMCID:
PMC11136313
AbstractArticlePDF–626K
4.
Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy
Francesco Galli, Laricia Bragg, Maira Rossi, Daisy Proietti, Laura Perani, Marco Bacigaluppi, Rossana Tonlorenzi, Tendai Sibanda, Miriam Caffarini, Avraneel Talapatra, Sabrina Santoleri, Mirella Meregalli, Beatriz Bano-Otalora, Anne Bigot, Irene Bozzoni, Chiara Bonini, Vincent Mouly, Yvan Torrente, Giulio Cossu
EMBO Mol Med. 2024 Apr; 16(4): 927–944. Published online 2024 Mar 4. doi: 10.1038/s44321-024-00031-3
Correction in:
EMBO Mol Med. 2024 Oct; 16(10): 2654.
PMCID:
PMC11018779
AbstractArticlePDF–5.1M
5.
The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation
Dylan Da Cunha, Julie Miro, Charles Van Goethem, Cécile Notarnicola, Gérald Hugon, Gilles Carnac, Mireille Cossée, Michel Koenig, Sylvie Tuffery-Giraud
Cell Mol Life Sci. 2024 Dec; 81(1): 150. Published online 2024 Mar 21. doi: 10.1007/s00018-024-05188-1
PMCID:
PMC10957711
AbstractArticlePDF–7.7M
6.
Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1–2 duplications based on long-read sequencing
Jiandong Shen, Taoli Ding, Xueping Sun, Ji Yang, Yue Zhang, Jing Wang, Mengdi Ge, Heng Xu, Jiazi Xie, Fei Wang, Feiyang Diao
BMC Genomics. 2024; 25: 292. Published online 2024 Mar 19. doi: 10.1186/s12864-024-10224-2
PMCID:
PMC10949565
AbstractArticlePDF–2.2M
7.
Comparative interactome analysis of α-arrestin families in human and Drosophila
Kyung-Tae Lee, Inez KA Pranoto, Soon-Young Kim, Hee-Joo Choi, Ngoc Bao To, Hansong Chae, Jeong-Yeon Lee, Jung-Eun Kim, Young V Kwon, Jin-Wu Nam
eLife. 2024; 12: RP88328. Published online 2024 Jan 25. doi: 10.7554/eLife.88328
PMCID:
PMC10945707
AbstractArticlePDF–2.8M
8.
Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions
Laura Pezzoni, Roberta Brusa, Teresa Difonzo, Francesca Magri, Daniele Velardo, Stefania Corti, Giacomo Pietro Comi, Maria Cristina Saetti
Neurol Sci. 2024; 45(4): 1691–1698. Published online 2023 Nov 15. doi: 10.1007/s10072-023-07169-x
PMCID:
PMC10943145
AbstractArticlePDF–531K
9.
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies
Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan
Orphanet J Rare Dis. 2024; 19: 123. Published online 2024 Mar 14. doi: 10.1186/s13023-024-03128-7
PMCID:
PMC10941385
AbstractArticlePDF–3.6M
10.
Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma
Suzannah G. Miller, Maria Hoh, Christopher C. Ebmeier, Jian Wei Tay, Natalie G. Ahn
Mol Biol Cell. 2024 Mar 1; 35(3): ar31. Published online 2024 Jan 29. doi: 10.1091/mbc.E23-06-0255
PMCID:
PMC10916866
AbstractArticlePDF–4.7M
11.
Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients
Ery Kus Dwianingsih, Kristy Iskandar, Sunartini Hapsara, Chun Ping Liu, Rusdy Ghazali Malueka, Gunadi, Masafumi Matsuo, Poh San Lai
Version 3. F1000Res. 2022; 11: 148. Published online 2023 Nov 17. doi: 10.12688/f1000research.73476.3
PMCID:
PMC10668572
AbstractArticlePDF–853K
12.
Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls
Natalie Pluta, Arpad von Moers, Astrid Pechmann, Werner Stenzel, Hans-Hilmar Goebel, David Atlan, Beat Wolf, Indrajit Nanda, Ann-Kathrin Zaum, Simone Rost
Int J Mol Sci. 2023 Sep; 24(17): 13567. Published online 2023 Sep 1. doi: 10.3390/ijms241713567
PMCID:
PMC10488134
AbstractArticlePDF–3.5M
13.
Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell
Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low
Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120
PMCID:
PMC10151615
AbstractArticlePDF–2.9M
14.
Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis
Carlos Pascual-Morena, Iván Cavero-Redondo, Vicente Martínez-Vizcaíno, Irene Sequí-Domínguez, Jaime Fernández-Bravo-Rodrigo, Estela Jiménez-López
J Neuromuscul Dis. 2023; 10(2): 159–172. Prepublished online 2022 Dec 16. Published online 2023 Mar 7. doi: 10.3233/JND-221586
PMCID:
PMC10041431
AbstractArticlePDF–495K
15.
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
Emanuela Viggiano, Esther Picillo, Luigia Passamano, Maria Elena Onore, Giulio Piluso, Marianna Scutifero, Annalaura Torella, Vincenzo Nigro, Luisa Politano
Genes (Basel) 2023 Jan; 14(1): 214. Published online 2023 Jan 14. doi: 10.3390/genes14010214
PMCID:
PMC9859256
AbstractArticlePDF–2.4M
16.
Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype
Elizabeth A. Ulm, Chinmayee B. Nagaraj, Cuixia Tian, Teresa A. Smolarek
Mol Genet Genomic Med. 2023 Jan; 11(1): e2088. Published online 2022 Nov 24. doi: 10.1002/mgg3.2088
PMCID:
PMC9834199
AbstractArticlePDF–737K
17.
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion
Javier Poyatos‐García, Pilar Martí, Alessandro Liquori, Nuria Muelas, Inmaculada Pitarch, Luis Martinez‐Dolz, Benjamin Rodríguez, Lidia Gonzalez‐Quereda, Maria Damiá, Elena Aller, Marta Selva‐Gimenez, Roger Vilchez, Jordi Diaz‐Manera, Jorge Alonso‐Pérez, José Eulalio Barcena, Amaia Jauregui, Josep Gámez, Jesus Angel Aladrén, Ariadna Fernández, Marisol Montolio, Inmaculada Azorin, David Hervas, Ana Casasús, Marisa Nieto, Pia Gallano, Teresa Sevilla, Juan Jesus Vilchez
Ann Neurol. 2022 Nov; 92(5): 793–806. Published online 2022 Sep 7. doi: 10.1002/ana.26461
PMCID:
PMC9825930
AbstractArticlePDF–2.7M
18.
A whole genome CRISPR screen identifies AHR loss as a mechanism of resistance to a PARP7 inhibitor
Huadong Chen, Morgan E. Diolaiti, Patrick C. O’Leary, Ajda Rojc, Nevan J. Krogan, Minkyu Kim, Alan Ashworth
Mol Cancer Ther. Author manuscript; available in PMC 2023 Jan 5.
Published in final edited form as: Mol Cancer Ther. 2022 Jul 5; 21(7): 1076–1089. doi: 10.1158/1535-7163.MCT-21-0841
PMCID:
PMC9769698
AbstractArticlePDF–2.7M
19.
Specificities of the DMD Gene Mutation Spectrum in Russian Patients
Elena Zinina, Maria Bulakh, Alena Chukhrova, Oksana Ryzhkova, Peter Sparber, Olga Shchagina, Aleksander Polyakov, Sergey Kutsev
Int J Mol Sci. 2022 Nov; 23(21): 12710. Published online 2022 Oct 22. doi: 10.3390/ijms232112710
PMCID:
PMC9658738
AbstractArticlePDF–2.4M
20.
Dp71 Point Mutations Induce Protein Aggregation, Loss of Nuclear Lamina Integrity and Impaired Braf35 and Ibraf Function in Neuronal Cells
Claudia Ivette Rugerio-Martínez, Daniel Ramos, Abel Segura-Olvera, Nadia Mireya Murillo-Melo, Yessica Sarai Tapia-Guerrero, Raúl Argüello-García, Norberto Leyva-García, Oscar Hernández-Hernández, Bulmaro Cisneros, Rocío Suárez-Sánchez
Int J Mol Sci. 2022 Oct; 23(19): 11876. Published online 2022 Oct 6. doi: 10.3390/ijms231911876
PMCID:
PMC9570083
AbstractArticlePDF–6.8M

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