A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss

door Modamio-Høybjør, Silvia , Mencía, Ángeles , Goodyear, Richard , del Castillo, Ignacio , Richardson, Guy , Moreno, Felipe , Moreno-Pelayo, Miguel Ángel 
Gepubliceerd in 2007

Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes

door Chamorro, Cristina, Mencía, Angeles, Almarza, David, Duarte, Blanca, Büning, Hildegard, Sallach, Jessica, Hausser, Ingrid, Del Río, Marcela, Larcher, Fernando, Murillas, Rodolfo
Gepubliceerd in Mol Ther Nucleic Acids (2016)

Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene

door Moreno-Pelayo, Miguel Ángel, Goodyear, Richard J., Mencía, Angeles, Modamio-Høybjør, Silvia, Legan, P. Kevin, Olavarrieta, Leticia, Moreno, Felipe, Richardson, Guy P.
Gepubliceerd in 2008

Efficient CRISPR-Cas9-Mediated Gene Ablation in Human Keratinocytes to Recapitulate Genodermatoses: Modeling of Netherton Syndrome

door Gálvez, Victoria, Chacón-Solano, Esteban, Bonafont, Jose, Mencía, Ángeles, Di, Wei-Li, Murillas, Rodolfo, Llames, Sara, Vicente, Asunción, Del Rio, Marcela, Carretero, Marta, Larcher, Fernando
Gepubliceerd in Mol Ther Methods Clin Dev (2020)

Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells

door 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
Gepubliceerd in Mol Ther Nucleic Acids (2018)

Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane

door 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.
Gepubliceerd in 2014

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

door 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
Gepubliceerd in 2009

Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing

door 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
Gepubliceerd in Mol Ther (2021)

Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing

door 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
Gepubliceerd in Mol Ther (2019)

A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ(–)Tγδ(+)B(+)NK(+) human SCID

door 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.
Gepubliceerd in 2011

DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Non-syndromic Autosomal Dominant Hearing Loss

door 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, Van Wesemael, Maarten, 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.
Gepubliceerd in 2011