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Page 1
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: de lucas r, de arriba mdc. JAMA Dermatol. 2022 Apr 1;158(4):439-443. doi: 10.1001/jamadermatol.2022.0112. JAMA Dermatol. 2022. PMID: 35234827 Free PMC article.
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escámez MJ, Del Río M. García M, et al. Among authors: de luca n, de lucas r. Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x. Br J Dermatol. 2011. PMID: 21623745
Recessive Dystrophic Epidermolysis Bullosa and Pregnancy.
Boria F, Maseda R, Martín-Cameán M, De la Calle M, de Lucas R. Boria F, et al. Among authors: de lucas r, de la calle m. Actas Dermosifiliogr (Engl Ed). 2019 Jan-Feb;110(1):50-52. doi: 10.1016/j.ad.2017.06.024. Epub 2017 Dec 6. Actas Dermosifiliogr (Engl Ed). 2019. PMID: 29203033 English, Spanish.
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: de lucas r. 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.
Beneficial Effect of Systemic Allogeneic Adipose Derived Mesenchymal Cells on the Clinical, Inflammatory and Immunologic Status of a Patient With Recessive Dystrophic Epidermolysis Bullosa: A Case Report.
Maseda R, Martínez-Santamaría L, Sacedón R, Butta N, de Arriba MDC, García-Barcenilla S, García M, Illera N, Pérez-Conde I, Carretero M, Jiménez E, Melen G, Borobia AM, Jiménez-Yuste V, Vicente Á, Del Río M, de Lucas R, Escámez MJ. Maseda R, et al. Among authors: de lucas r, de arriba mdc. Front Med (Lausanne). 2020 Nov 26;7:576558. doi: 10.3389/fmed.2020.576558. eCollection 2020. Front Med (Lausanne). 2020. PMID: 33324660 Free PMC article.
Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years' experience of a reference centre in Spain.
Castelo B, Viñal D, Maseda R, Ostios L, Sánchez D, García-Salvatierra B, Escámez MJ, Martínez-Santamaría L, Del Río M, Mora-Rillo M, Vilches Y, Beato MJ, López Gutiérrez JC, Romero N, Santos C, Miranda J, de Lucas R. Castelo B, et al. Among authors: de lucas r. Clin Transl Oncol. 2019 Nov;21(11):1573-1577. doi: 10.1007/s12094-019-02073-3. Epub 2019 Mar 12. Clin Transl Oncol. 2019. PMID: 30864020
Natural Occurrence of Autoantibodies against Basement Membrane Proteins in Epidermolysis Bullosa.
Gostyński A, Diercks GFH, Escamez MJ, Chandran NS, de Lucas R, Garcia-Martin A, Del Rio M, Bremer J, Bolling MC, Meana A, Llames SG, Schmidt E, Ludwig R, Jonkman MF, Pas HH, Pasmooij AMG. Gostyński A, et al. Among authors: de lucas r. J Invest Dermatol. 2022 Jul;142(7):2014-2019.e3. doi: 10.1016/j.jid.2021.10.030. Epub 2021 Nov 26. J Invest Dermatol. 2022. PMID: 34843678 Free article. No abstract available.
Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.
Mencía Á, García M, García E, Llames S, Charlesworth A, de Lucas R, Vicente A, Trujillo-Tiebas MJ, Coto P, Costa M, Vera Á, López-Pestaña A, Murillas R, Meneguzzi G, Jorcano JL, Conti CJ, Escámez Toledano MJ, del Río Nechaevsky M. Mencía Á, et al. Among authors: de lucas r. Exp Dermatol. 2016 Apr;25(4):269-74. doi: 10.1111/exd.12938. Epub 2016 Feb 13. Exp Dermatol. 2016. PMID: 26739954
145 results