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Specific DMPK-promoter targeting by CRISPRi reverses myotonic dystrophy type 1-associated defects in patient muscle cells.
Porquet F, Weidong L, Jehasse K, Gazon H, Kondili M, Blacher S, Massotte L, Di Valentin E, Furling D, Gillet NA, Klein AF, Seutin V, Willems L. Porquet F, et al. Among authors: seutin v. Mol Ther Nucleic Acids. 2023 May 13;32:857-871. doi: 10.1016/j.omtn.2023.05.007. eCollection 2023 Jun 13. Mol Ther Nucleic Acids. 2023. PMID: 37273786 Free PMC article.
Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence.
Jehasse K, Jacquerie K, de Froidmont A, Lemoine C, Grisar T, Stouffs K, Lakaye B, Seutin V. Jehasse K, et al. Among authors: seutin v. Mol Genet Genomic Med. 2021 Feb;9(2):e1588. doi: 10.1002/mgg3.1588. Epub 2021 Jan 28. Mol Genet Genomic Med. 2021. PMID: 33507632 Free PMC article.
94 results