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Normal and altered pre-mRNA processing in the DMD gene.
Tuffery-Giraud S, Miro J, Koenig M, Claustres M. Tuffery-Giraud S, et al. Hum Genet. 2017 Sep;136(9):1155-1172. doi: 10.1007/s00439-017-1820-9. Epub 2017 Jun 9. Hum Genet. 2017. PMID: 28597072 Review.
Splicing of pre-mRNA is a crucial regulatory stage in the pathway of gene expression controlled by multiple post- and co-transcriptional mechanisms. The large Duchenne muscular dystrophy gene encoding the protein dystrophin provides a striking example of the complexity of …
Splicing of pre-mRNA is a crucial regulatory stage in the pathway of gene expression controlled by multiple post- and co-transcriptional mec …
[Genetics and molecular aspects of dystrophinopathies].
Leturcq F, Tuffery-Giraud S. Leturcq F, et al. Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S3-11. doi: 10.1016/S0929-693X(16)30002-1. Arch Pediatr. 2015. PMID: 26773583 Review. French.
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the DMD gene that encodes the cytoskeletal protein, dystrophin. ...
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the DMD gene that encodes the cytosk …
Deflazacort use in Duchenne muscular dystrophy: an 8-year follow-up.
Houde S, Filiatrault M, Fournier A, Dubé J, D'Arcy S, Bérubé D, Brousseau Y, Lapierre G, Vanasse M. Houde S, et al. Pediatr Neurol. 2008 Mar;38(3):200-6. doi: 10.1016/j.pediatrneurol.2007.11.001. Pediatr Neurol. 2008. PMID: 18279756 Clinical Trial.
Data reported here were collected over an 8-year period for 79 Duchenne muscular dystrophy patients, 37 of whom were treated with deflazacort. ...
Data reported here were collected over an 8-year period for 79 Duchenne muscular dystrophy patients, 37 of whom were treated with def …
Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay.
Miro J, Bourgeois CF, Claustres M, Koenig M, Tuffery-Giraud S. Miro J, et al. Methods Mol Biol. 2018;1687:157-169. doi: 10.1007/978-1-4939-7374-3_11. Methods Mol Biol. 2018. PMID: 29067662
Mutation-induced exon skipping in the DMD gene can modulate the severity of the phenotype in patients with Duchenne or Becker Muscular Dystrophy. These alternative splicing events are most likely the result of changes in recruitment of splicing factors at cis-acting elemen …
Mutation-induced exon skipping in the DMD gene can modulate the severity of the phenotype in patients with Duchenne or Becker Muscula …
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M. Tuffery-Giraud S, et al. Hum Mutat. 2009 Jun;30(6):934-45. doi: 10.1002/humu.20976. Hum Mutat. 2009. PMID: 19367636