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Buscar por Autor Mencía, A
Mostrando resultados 1 a 20 de 29
| Fecha de publicación | Título | Autor(es) | | oct-2011 | A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID | Gil, J; Busto, EM; Garcillan, B; Chean, C; García-Rodríguez, MC; Díaz-Alderete, A; Navarro, J; Reiné, J; Mencía, A; Gurbino, D; Beléndez, C; Gordillo, I; Duchniewicz, M; Höhne, K; García-Sánchez, F; Fernández-Cruz, E; López-Granados, E; Schamel, WWA; Moreno-Pelayo, MA; Recio, MJ; Regueiro, JR |
| jun-2007 | A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss | Modamio-Høybjør, S; Mencía, A; Goodyear, R; del Castillo, I; Richardson, G; Moreno, F; Moreno-Pelayo, MA |
| feb-2008 | A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression | Mencía, A; Gómez-Nieto, D; Modamio-Høybjør, S; Etxeberría, A; Aranguez, G; Salvador, N; del Castillo, I; Villarroel, A; Moreno, F; Barrio, L; Moreno-Pelayo, MA |
| ene-2023 | A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29 | Modamio-Høybjør, S; Moreno-Pelayo, MA; Mencía, A; del Castillo, I; Chardenoux, S; Armenta, D; Lathrop, M; Petite, C; Moreno, F |
| feb-2004 | A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci | Modamio-Høybjør, S; Moreno-Pelayo, MA; Mencía, A; del Castillo, I; Chardenoux, S; Morais, D; Lathrop, M; Petite, C; Moreno, F |
| jun-2008 | Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene | Moreno-Pelayo, MA; Goodyear, R; Mencía, A; Modamio-Høybjør, S; Legan, PK; Olavarrieta, L; Moreno, F; Richardson, GP |
| may-2019 | Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing | Bonafont, 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-2016 | Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes | Chamorro, C; Mencía, A; Almarza, D; Duarte, B; Büning, H; Sallach, J; Hausser, I; Larcher, F; Murillas, R |
| jun-2021 | 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; García, M; Hervás-Salcedo, R; Ugalde, L; Duarte, B; Porteus, MH; del Río, M; Larcher, F; Murillas, R |
| jun-2018 | Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells | Mencía, A; Chamorro, C; Bonafont, J; Duarte, B; Holguin, A; Illera, N; Llames, SG; Escámez, MJ; Hausser, I; del Río, M; Larcher, F; Murillas, R |
| nov-2023 | DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23 | Moreno-Pelayo, MA; Modamio-Høybjør, S; Mencía, A; del Castillo, I; Chardenoux, S; Fernández-Burriel, M; Lathrop, M; Petite, C; Moreno, F |
| jul-2011 | DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss | Hildebrand, MS; Morín, M; Meyer, NC; Mayo-Merino, F; Modamio-Høybjør, S; Mencía, A; Olavarrieta, L; Morales-Angulo, Carmelo; Nishimura, CJ; Workman, H; DeLuca, AP; del Castillo, I; Taylor, KR; Tompkins, B; Goodman, CW; Schrauwen, I; Van Wesemael, M; Lachlan, K; Shearer, AE; Braun, TA; Huygen, PLM; Kremer, H; Van Camp, G; Moreno, F; Casavant, TL; Smith, RJH; Moreno-Pelayo, MA |
| 15-feb-2007 | Differential biological role of CD3 chains revealed by human immunodeficiencies | Recio, MJ; Moreno-Pelayo, MA; Kiliç, SS; Guardo, AC; Sanal, O; Allende, LM; Pérez-Flores, V; Mencía, A; Modamio-Høybjør, S; Seoane, E; Regueiro, JR |
| jun-2020 | Efficient CRISPR-Cas9-Mediated Gene Ablation in Human Keratinocytes to Recapitulate Genodermatoses: Modeling of Netherton Syndrome | Gálvez, V; Chacón-Solano, E; Bonafont, J; Mencía, A; Wei-Li, D; Murillas, R; Llames, S; Vicente, A; del Río, M; Carretero, M; Larcher, F |
| sep-2019 | 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, A; Martínez-Santamaría, L; Llames, S; Pévida, M; Carbonell-Caballero, J; Puig-Butillé, JA; Maseda, R; Puig, S; de Lucas, R; Baselga, E; Larcher, J; Dopazo, J; del Río, M |
| ene-2008 | Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies | Mancebo, E; Moreno-Pelayo, MA; Mencía, A; de la Calle-Martín, O; Allende, LM; Sivadorai, P; Kalaydjieva, L; Bertranpetit, J; Coto, E; Calleja-Antolín, S; Ruiz-Contreras, J; Paz-Artal, E |
| nov-2006 | Herpesvirus saimiri (HVS)-transformed T-cell lines: a method to study mucosal T cells in inflammatory bowel disease | Aguilera-Montilla, N; Pérez-Blas, M; Valeri, AP; López-Santalla, M; Rodríguez-Juan, C; Mencía, A; Castellano, G; Manzano, ML; Casis, B; Sánchez, F; Martín-Villa, JM |
| abr-2008 | Herpesvirus saimiri transformation may help disclose inherent functional defects of mucosal T lymphocytes in patients with gastric adenocarcinoma | Valeri, AP; Aguilera-Montilla, N; López-Santalla, M; Mencía, A; Rodríguez-Juan, C; Gutiérrez-Calvo, A; Martín, J; Lasa, I; García-Sancho, L; Granell, J; Pérez-Blas, M; Martín-Villa, JM |
| dic-2004 | Higher proliferative capacity of T lymphocytes from patients with Crohn disease than from ulcerative colitis is disclosed by use of Herpesvirus saimiri-transformed T-cell lines | Aguilera-Montilla, N; Pérez-Blas, M; Valeri, AP; López-Santalla, M; Rodríguez-Juan, C; Mencía, A; Castellano, G; Manzano, ML; Casis, B; Sánchez, F; Martín-Villa, JM |
| ago-2024 | Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activity for the treatment of recessive dystrophic epidermolysis bullosa | Jover, 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 |
Mostrando resultados 1 a 20 de 29
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