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Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants.
Martínez-Santamaría L, Maseda R, de Arriba MDC, Membrilla JA, Sigüenza AI, Mascías J, García M, Quintana L, Esteban-Rodríguez I, Hernández-Fernández CP, Illera N, Duarte B, Guerrero-Aspizúa S, Woodley DT, Del Río M, de Lucas R, Larcher F, Escámez MJ. Martínez-Santamaría L, et al. Among authors: larcher f. JAMA Dermatol. 2022 Apr 1;158(4):439-443. doi: 10.1001/jamadermatol.2022.0112. JAMA Dermatol. 2022. PMID: 35234827 Free PMC article.
Keratinocyte 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 vivo.
Chamorro 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. Chamorro C, et al. Among authors: larcher f. Exp Dermatol. 2013 Sep;22(9):601-3. doi: 10.1111/exd.12203. Exp Dermatol. 2013. PMID: 23947675
Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing.
Bonafont J, Mencía A, Chacón-Solano E, Srifa W, Vaidyanathan S, Romano R, Garcia M, Hervás-Salcedo R, Ugalde L, Duarte B, Porteus MH, Del Rio M, Larcher F, Murillas R. Bonafont J, et al. Among authors: larcher f. Mol Ther. 2021 Jun 2;29(6):2008-2018. doi: 10.1016/j.ymthe.2021.02.019. Epub 2021 Feb 18. Mol Ther. 2021. PMID: 33609734 Free PMC article.
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, Del Rio M. Escámez MJ, et al. Among authors: larcher f. Br J Dermatol. 2010 Jul;163(1):155-61. doi: 10.1111/j.1365-2133.2010.09713.x. Epub 2010 Feb 22. Br J Dermatol. 2010. PMID: 20184583
Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.
Chacón-Solano E, León C, Díaz F, García-García F, García M, Escámez MJ, Guerrero-Aspizua S, Conti CJ, Mencía Á, Martínez-Santamaría L, Llames S, Pévida M, Carbonell-Caballero J, Puig-Butillé JA, Maseda R, Puig S, de Lucas R, Baselga E, Larcher F, Dopazo J, Del Río M. Chacón-Solano E, et al. Among authors: larcher f. Br J Dermatol. 2019 Sep;181(3):512-522. doi: 10.1111/bjd.17698. Epub 2019 Apr 15. Br J Dermatol. 2019. PMID: 30693469 Free PMC article.
Assessment of optimal virus-mediated growth factor gene delivery for human cutaneous wound healing enhancement.
Escámez MJ, Carretero M, García M, Martínez-Santamaría L, Mirones I, Duarte B, Holguín A, García E, García V, Meana A, Jorcano JL, Larcher F, Del Río M. Escámez MJ, et al. Among authors: larcher f. J Invest Dermatol. 2008 Jun;128(6):1565-75. doi: 10.1038/sj.jid.5701217. Epub 2008 Jan 10. J Invest Dermatol. 2008. PMID: 18185534 Free article.
Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy.
Gostyński A, Llames S, García M, Escamez MJ, Martinez-Santamaria L, Nijenhuis M, Meana A, Pas HH, Larcher F, Pasmooij AMG, Jonkman MF, Del Rio M. Gostyński A, et al. Among authors: larcher f. J Invest Dermatol. 2014 Feb;134(2):571-574. doi: 10.1038/jid.2013.308. Epub 2013 Jul 24. J Invest Dermatol. 2014. PMID: 23884316 Free article. No abstract available.
123 results