DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss
Hildebrand, Michael S., Morín, Matías, Meyer, Nicole C., Mayo, Fernando, Modamio-Hoybjor, Silvia, Mencía, Angeles, Olavarrieta, Leticia, Morales-Angulo, Carmelo, Nishimura, Carla J., Workman, Heather, DeLuca, Adam P., del Castillo, Ignacio, Taylor, Kyle R., Tompkins, Bruce, Goodman, Corey W., Schrauwen, Isabelle, Wesemael, Maarten Van, Lachlan, K., Shearer, A. Eliot, Braun, Terry A., Huygen, Patrick L.M., Kremer, Hannie, Van Camp, Guy, Moreno, Felipe, Casavant, Thomas L., Smith, Richard J.H., Moreno-Pelayo, Miguel A.
Published in Human mutation (01.07.2011)
Published in Human mutation (01.07.2011)
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Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss
Modamio-Høybjør, Silvia, Morín, Matías, Moreno, Felipe, Mayo-Merino, Fernando, Moreno-Pelayo, Miguel Ángel, Steel, Karen P, Dalmay, Tamas, Mencía, Ángeles, Redshaw, Nick, Aguirre, Luis A, Olavarrieta, Leticia, del Castillo, Ignacio
Published in Nature genetics (01.05.2009)
Published in Nature genetics (01.05.2009)
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Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing
Bonafont, Jose, Mencía, Angeles, Chacón-Solano, Esteban, Srifa, Wai, Vaidyanathan, Sriram, Romano, Rosa, Garcia, Marta, Hervás-Salcedo, Rosario, Ugalde, Laura, Duarte, Blanca, Porteus, Matthew H., Del Rio, Marcela, Larcher, Fernando, Murillas, Rodolfo
Published in Molecular therapy (02.06.2021)
Published in Molecular therapy (02.06.2021)
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Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes
Chamorro, Cristina, Mencía, Angeles, Almarza, David, Duarte, Blanca, Büning, Hildegard, Sallach, Jessica, Hausser, Ingrid, Del Río, Marcela, Larcher, Fernando, Murillas, Rodolfo
Published in Molecular therapy. Nucleic acids (05.04.2016)
Published in Molecular therapy. Nucleic acids (05.04.2016)
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In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment
Morín, Matías, Bryan, Keith E., Mayo-Merino, Fernando, Goodyear, Richard, Mencía, Ángeles, Modamio-Høybjør, Silvia, del Castillo, Ignacio, Cabalka, Jessica M., Richardson, Guy, Moreno, Felipe, Rubenstein, Peter A., Moreno-Pelayo, Miguel Ángel
Published in Human molecular genetics (15.08.2009)
Published in Human molecular genetics (15.08.2009)
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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, Cristina, Almarza, David, Duarte, Blanca, Llames, Sara G., Murillas, Rodolfo, García, Marta, Cigudosa, Juan C., Espinosa-Hevia, Luis, Escámez, Maria José, Mencía, Ángeles, Meana, Álvaro, García-Escudero, Ramón, Moro, Rosa, Conti, Claudio J., Del Río, Marcela, Larcher, Fernando
Published in Experimental dermatology (01.09.2013)
Published in Experimental dermatology (01.09.2013)
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Differential Biological Role of CD3 Chains Revealed by Human Immunodeficiencies
Recio, Maria J, Moreno-Pelayo, Miguel Angel, Kilic, Sara S, Guardo, Alberto C, Sanal, Ozden, Allende, Luis M, Perez-Flores, Veronica, Mencia, Angeles, Modamio-Hoybjor, Silvia, Seoane, Elena, Regueiro, Jose R
Published in Journal of Immunology (15.02.2007)
Published in Journal of Immunology (15.02.2007)
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A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID
Gil, Juana, Busto, Elena M, Garcillán, Beatriz, Chean, Carmen, García-Rodríguez, Maria Cruz, Díaz-Alderete, Andrea, Navarro, Joaquín, Reiné, Jesús, Mencía, Angeles, Gurbindo, Dolores, Beléndez, Cristina, Gordillo, Isabel, Duchniewicz, Marlena, Höhne, Kerstin, García-Sánchez, Félix, Fernández-Cruz, Eduardo, López-Granados, Eduardo, Schamel, Wolfgang W A, Moreno-Pelayo, Miguel A, Recio, María J, Regueiro, José R
Published in The Journal of clinical investigation (01.10.2011)
Published in The Journal of clinical investigation (01.10.2011)
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A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression
Mencía, Ángeles, González-Nieto, Daniel, Modamio-Høybjør, Silvia, Etxeberría, Ainhoa, Aránguez, Gracia, Salvador, Nieves, del Castillo, Ignacio, Villarroel, Álvaro, Moreno, Felipe, Barrio, Luis, Moreno-Pelayo, Miguel Ángel
Published in Human genetics (01.02.2008)
Published in Human genetics (01.02.2008)
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Non-viral delivery of CRISPR–Cas9 complexes for targeted gene editing via a polymer delivery system
O’Keeffe Ahern, Jonathan, Lara-Sáez, Irene, Zhou, Dezhong, Murillas, Rodolfo, Bonafont, Jose, Mencía, Ángeles, García, Marta, Manzanares, Darío, Lynch, Jennifer, Foley, Ruth, Xu, Qian, Sigen, A, Larcher, Fernando, Wang, Wenxin
Published in Gene therapy (01.04.2022)
Published in Gene therapy (01.04.2022)
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Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies
Mancebo, Esther, Moreno-Pelayo, Miguel A., Mencía, Ángeles, de la Calle-Martín, Oscar, Allende, Luis M., Sivadorai, Padma, Kalaydjieva, Luba, Bertranpetit, Jaume, Coto, Eliecer, Calleja-Antolín, Sara, Ruiz-Contreras, Jesus, Paz-Artal, Estela
Published in Molecular immunology (01.01.2008)
Published in Molecular immunology (01.01.2008)
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Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane
Legan, P. Kevin, Goodyear, Richard J., Morín, Matías, Mencia, Angeles, Pollard, Hilary, Olavarrieta, Leticia, Korchagina, Julia, Modamio-Hoybjor, Silvia, Mayo, Fernando, Moreno, Felipe, Moreno-Pelayo, Miguel-Angel, Richardson, Guy P.
Published in Human molecular genetics (15.05.2014)
Published in Human molecular genetics (15.05.2014)
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Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing
Bonafont, Jose, Mencía, Ángeles, García, Marta, Torres, Raúl, Rodríguez, Sandra, Carretero, Marta, Chacón-Solano, Esteban, Modamio-Høybjør, Silvia, Marinas, Lucía, León, Carlos, Escamez, María J., Hausser, Ingrid, Del Río, Marcela, Murillas, Rodolfo, Larcher, Fernando
Published in Molecular therapy (08.05.2019)
Published in Molecular therapy (08.05.2019)
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Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene
Moreno-Pelayo, Miguel Ángel, Goodyear, Richard J., Mencía, Angeles, Modamio-Høybjør, Silvia, Legan, P. Kevin, Olavarrieta, Leticia, Moreno, Felipe, Richardson, Guy P.
Published in Journal of the Association for Research in Otolaryngology (01.06.2008)
Published in Journal of the Association for Research in Otolaryngology (01.06.2008)
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Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activity for the treatment of recessive dystrophic epidermolysis bullosa
Jover, Irene, Ramos, Maria C., Escámez, María José, Lozoya, Estrella, Tormo, José R., de Prado-Verdún, Diana, Mencía, Ángeles, Pont, Mercè, Puig, Carles, Larraufie, Marie-Helene, Gutiérrez-Caballero, Cristina, Reyes, Fernando, Trincado, Juan Luis, García-González, Vicente, Cerrato, Rosario, Andrés, Miriam, Crespo, Maribel, Vicente, Francisca, Godessart, Nuria, Genilloud, Olga, Larcher, Fernando, Nueda, Arsenio
Published in Scientific reports (16.08.2024)
Published in Scientific reports (16.08.2024)
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Nonviral CRISPR/Cas9 mutagenesis for streamlined generation of mouse lung cancer models
Lara-Sáez, Irene, Mencía, Ángeles, Recuero, Enrique, Li, Yinghao, García, Marta, Oteo, Marta, Gallego, Marta I, Enguita, Ana Belén, de Prado-Verdún, Diana, A, Sigen, Wang, Wenxin, García-Escudero, Ramón, Murillas, Rodolfo, Santos, Mirentxu
Published in Proceedings of the National Academy of Sciences - PNAS (09.07.2024)
Published in Proceedings of the National Academy of Sciences - PNAS (09.07.2024)
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Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells
Mencía, Ángeles, Chamorro, Cristina, Bonafont, Jose, Duarte, Blanca, Holguin, Almudena, Illera, Nuria, Llames, Sara G., Escámez, Maria José, Hausser, Ingrid, Del Río, Marcela, Larcher, Fernando, Murillas, Rodolfo
Published in Molecular therapy. Nucleic acids (01.06.2018)
Published in Molecular therapy. Nucleic acids (01.06.2018)
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Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors
García, Marta, Bonafont, Jose, Martínez-Palacios, Jesús, Xu, Rudan, Turchiano, Giandomenico, Svensson, Stina, Thrasher, Adrian J., Larcher, Fernando, Del Rio, Marcela, Hernández-Alcoceba, Rubén, Garín, Marina I., Mencía, Ángeles, Murillas, Rodolfo
Published in Molecular therapy. Methods & clinical development (08.12.2022)
Published in Molecular therapy. Methods & clinical development (08.12.2022)
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Herpesvirus saimiri transformation may help disclose inherent functional defects of mucosal T lymphocytes in patients with gastric adenocarcinoma
Valeri, Anna P, Aguilera‐Montilla, Noemí, López‐Santalla, Mercedes, Mencía, Ángeles, Rodríguez‐Juan, Cristina, Gutiérrez‐Calvo, Alberto, Martín, Javer, Lasa, Inmaculada, García‐Sancho, Luis, Granell, Javier, Pérez‐Blas, Mercedes, Martín‐Villa, José M
Published in Immunology and cell biology (01.03.2008)
Published in Immunology and cell biology (01.03.2008)
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Herpesvirus saimiri (HVS)-transformed T-cell lines: a method to study mucosal T cells in inflammatory bowel disease
Aguilera-Montilla, Noemí, Pérez-Blas, Mercedes, Valeri, Anna Paola, López-Santalla, Mercedes, Rodríguez-Juan, Cristina, Mencía, Angeles, Castellano, Gregorio, Luisa Manzano, María, Casis, Begoña, Sánchez, Fernando, Martín-Villa, José Manuel
Published in Scandinavian journal of gastroenterology (01.11.2006)
Published in Scandinavian journal of gastroenterology (01.11.2006)
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