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Fecha de publicaciónTítuloAutor(es)
may-2019Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene EditingBonafont, J; Mencía, A; García, M; Torres, R; Rodríguez, S; Carretero, M; Chacón-Solano, E; Modamio-Høybjør, S; Marinas, L; León, C; Escámez, MJ; Hausser, I; del Río, M; Murillas, R; Larcher, F
abr-2016Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa KeratinocytesChamorro, C; Mencía, A; Almarza, D; Duarte, B; Büning, H; Sallach, J; Hausser, I; Larcher, F; Murillas, R
jun-2021Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editingBonafont, J; Mencía, A; Chacón-Solano, E; Srifa, W; Vaidyanathan, S; Romano, R; García, M; Hervás-Salcedo, R; Ugalde, L; Duarte, B; Porteus, MH; del Río, M; Larcher, F; Murillas, R
jun-2018Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem CellsMencía, A; Chamorro, C; Bonafont, J; Duarte, B; Holguin, A; Illera, N; Llames, SG; Escámez, MJ; Hausser, I; del Río, M; Larcher, F; Murillas, R
jun-2020Efficient CRISPR-Cas9-Mediated Gene Ablation in Human Keratinocytes to Recapitulate Genodermatoses: Modeling of Netherton SyndromeGálvez, V; Chacón-Solano, E; Bonafont, J; Mencía, A; Wei-Li, D; Murillas, R; Llames, S; Vicente, A; del Río, M; Carretero, M; Larcher, F
ago-2024Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activity for the treatment of recessive dystrophic epidermolysis bullosaJover, I; Ramos, MC; Escámez, MJ; Lozoya, E; Tormo, JR; de Prado-Verdún, D; Mencía, A; Pont, M; Puig, C; Larraufie, MH; Gutiérrez-Caballero, C; Reyes, F; Trincado, JL; García-Gonzalez, V; Cerrato, R; Andrés, M; Crespo, M; Vicente, F; Godessart, N; Genilloud, O; Larcher, F; Nueda, A
sep-2013Keratinocyte cell lines derived from severe generalized recessive epidermolysis bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivoChamorro, C; Almarza, D; Duarte, B; Llames, SG; Murillas, R; García, M; Cigudosa, JC; Espinosa-Hevia, L; Escámez, MJ; Mencía, A; Meana, A; García-Escudero, R; Moro, R; Conti, CJ; del Río, M; Larcher, F
abr-2022Non-viral delivery of CRISPR-Cas9 complexes for targeted gene editing via a polymer delivery systemO'Keeffe Ahern, J; Lara-Saez, I; Zhou, D; Murillas, R; Bonafont, J; Mencía, A; García, M; Manzanares, D; Lynch, J; Foley, R; Qian, X; Sigen, A; Larcher, F; Wang, W
sep-2022Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectorsGarcía, M; Bonafont, J; Martínez-Palacios, J; Xu, R; Turchiano, G; Svenson, S; Thrasher, AJ; Larcher, F; del Río, M; Hernández-Alcoceba, R; Garín, MI; Mencía, A; Murillas, R
sep-2025Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutationWarshauer, EM; Maier, PA; Runfeldt, G; Fuentes, I; Escámez, MJ; Valinotto, L; Natale, M; Manzur, G; Illera, N; García, M; del Río, M; Mencía, A; Holguín, A; Larcher, F; Hellenthal, G; Brown, AR; Consuegra, L; Rivera, C; Nogueiro, I; Tang, J; Oro, A; Marinkovich, P; Palisson, F; Titeux, M; Hovnanian, A; Sprecher, E; Skorecki, K; Norris, D; Bruckner, A; Kogut, I; Bilousova, G; Roop, D
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