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Select item 109577111.

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

Abstract Article PDF–7.7M

Select item 109495652.

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

Abstract Article PDF–2.2M

Select item 109431453.

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

Abstract Article PDF–531K

Select item 109413854.

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

Abstract Article PDF–3.6M

Select item 109168665.

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

Abstract Article PDF–4.7M

Select item 106685726.

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

Abstract Article PDF–853K

Select item 104881347.

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

Abstract Article PDF–3.5M

Select item 100414318.

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

Abstract Article PDF–495K

Select item 98592569.

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

Abstract Article PDF–2.4M

Select item 983419910.

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

Abstract Article PDF–737K

Select item 982593011.

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

Abstract Article PDF–2.7M

Select item 976969812.

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

Abstract Article PDF–2.7M

Select item 965873813.

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

Abstract Article PDF–2.4M

Select item 957008314.

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

Abstract Article PDF–6.8M

Select item 933831315.

HSF1 phosphorylation establishes an active chromatin state via the TRRAP–TIP60 complex and promotes tumorigenesis

Mitsuaki Fujimoto, Ryosuke Takii, Masaki Matsumoto, Mariko Okada, Keiich I. Nakayama, Ryuichiro Nakato, Katsunori Fujiki, Katsuhiko Shirahige, Akira Nakai

Nat Commun. 2022; 13: 4355. Published online 2022 Jul 29. doi: 10.1038/s41467-022-32034-4

PMCID:: PMC9338313

Abstract Article PDF–2.8M

Select item 929263816.

Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration

Antonio Jimenez‐Marin, Ibai Diez, Garazi Labayru, Andone Sistiaga, Maria C. Caballero, Pol Andres‐Benito, Jorge Sepulcre, Isidro Ferrer, Adolfo Lopez de Munain, Jesus M. Cortes

Neuropathol Appl Neurobiol. 2021 Dec; 47(7): 1092–1108. Published online 2021 May 17. doi: 10.1111/nan.12725

PMCID:: PMC9292638

Abstract Article PDF–2.6M

Select item 865786017.

Natural History of a Mouse Model Overexpressing the Dp71 Dystrophin Isoform

Kenji Rowel Q. Lim, Md Nur Ahad Shah, Stanley Woo, Harry Wilton-Clark, Pavel Zhabyeyev, Faqi Wang, Rika Maruyama, Gavin Y. Oudit, Toshifumi Yokota

Int J Mol Sci. 2021 Dec; 22(23): 12617. Published online 2021 Nov 23. doi: 10.3390/ijms222312617

PMCID:: PMC8657860

Abstract Article PDF–2.2M

Select item 855732918.

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

Silvia Torelli, Domenic Scaglioni, Valentina Sardone, Matthew J Ellis, Joana Domingos, Adam Jones, Lucy Feng, Darren Chambers, Deborah M Eastwood, France Leturcq, Rabah Ben Yaou, Andoni Urtizberea, Pascal Sabouraud, Christine Barnerias, Tanya Stojkovic, Enzo Ricci, Maud Beuvin, Gisele Bonne, Caroline A Sewry, Tracey Willis, Richa Kulshrestha, Giorgio Tasca, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni

J Neuropathol Exp Neurol. 2021 Oct; 80(10): 955–965. Published online 2021 Sep 8. doi: 10.1093/jnen/nlab088

PMCID:: PMC8557329

Abstract Article PDF–758K

Select item 853389819.

Sertoli Cells Improve Myogenic Differentiation, Reduce Fibrogenic Markers, and Induce Utrophin Expression in Human DMD Myoblasts

Laura Salvadori, Sara Chiappalupi, Iva Arato, Francesca Mancuso, Mario Calvitti, Maria Cristina Marchetti, Francesca Riuzzi, Riccardo Calafiore, Giovanni Luca, Guglielmo Sorci

Biomolecules. 2021 Oct; 11(10): 1504. Published online 2021 Oct 12. doi: 10.3390/biom11101504

PMCID:: PMC8533898

Abstract Article PDF–3.4M

Select item 841720720.

Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy

Yixin Ren, Ying Lian, Zhiqiang Yan, Fan Zhai, Ming Yang, Xiaohui Zhu, Yuqian Wang, Yanli Nie, Shuo Guan, Ying Kuo, Jin Huang, Xiaodan Shi, Jialin Jia, Jie Qiao, Liying Yan

J Assist Reprod Genet. 2021 Aug; 38(8): 1979–1986. Published online 2021 Mar 15. doi: 10.1007/s10815-021-02126-z

PMCID:: PMC8417207

Abstract Article PDF–1.1M

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