Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants
Morín, Matias, Borreguero, Lucía, Booth, Kevin T, Lachgar, María, Huygen, Patrick, Villamar, Manuela, Mayo, Fernando, Barrio, Luis Carlos, Santos Serrão de Castro, Luciana, Morales, Carmelo, Del Castillo, Ignacio, Arellano, Beatriz, Tellería, Dolores, Smith, Richard J H, Azaiez, Hela, Moreno Pelayo, M A
Published in Scientific reports (10.04.2020)
Published in Scientific reports (10.04.2020)
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Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype
Morin, Matias, Forst, Anna-Lena, Pérez-Torre, Paula, Jiménez-Escrig, Adriano, Barca-Tierno, Verónica, García-Galloway, Eva, Warth, Richard, Lopez-Sendón Moreno, Jose Luis, Moreno-Pelayo, Miguel Angel
Published in Neurogenetics (01.04.2020)
Published in Neurogenetics (01.04.2020)
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Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247
Marin, Ana V., MSc, Jiménez-Reinoso, Anaïs, MSc, Briones, Alejandro C., MSc, Muñoz-Ruiz, Miguel, MSc, Aydogmus, Cigdem, MD, Pasick, Luke J., BSc, Couso, Jorge, MSc, Mazariegos, Marina S., MSc, Alvarez-Prado, Angel F., MSc, Blázquez-Moreno, Alfonso, MSc, Cipe, Funda E., MD, Haskologlu, Sule, MD, Dogu, Figen, MD, Morín, Matías, PhD, Moreno-Pelayo, Miguel A., PhD, García-Sánchez, Félix, PhD, Gil-Herrera, Juana, MD, PhD, Fernández-Malavé, Edgar, PhD, Reyburn, Hugh T., PhD, Ramiro, Almudena R., PhD, Ikinciogullari, Aydan, MD, Recio, Maria J., PhD, Regueiro, Jose R., PhD, Garcillán, Beatriz, PhD
Published in Journal of allergy and clinical immunology (01.01.2017)
Published in Journal of allergy and clinical immunology (01.01.2017)
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Journal Article
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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Therapeutic Potential of EWSR1–FLI1 Inactivation by CRISPR/Cas9 in Ewing Sarcoma
Cervera, Saint T., Rodríguez-Martín, Carlos, Fernández-Tabanera, Enrique, Melero-Fernández de Mera, Raquel M., Morin, Matias, Fernández-Peñalver, Sergio, Iranzo-Martínez, Maria, Amhih-Cardenas, Jorge, García-García, Laura, González-González, Laura, Moreno-Pelayo, Miguel Angel, Alonso, Javier
Published in Cancers (27.07.2021)
Published in Cancers (27.07.2021)
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Journal Article
CSVS, a crowdsourcing database of the Spanish population genetic variability
Peña-Chilet, María, Roldán, Gema, Perez-Florido, Javier, Ortuño, Francisco M, Carmona, Rosario, Aquino, Virginia, Lopez-Lopez, Daniel, Loucera, Carlos, Fernandez-Rueda, Jose L, Gallego, Asunción, García-Garcia, Francisco, González-Neira, Anna, Pita, Guillermo, Núñez-Torres, Rocío, Santoyo-López, Javier, Ayuso, Carmen, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Moreno-Pelayo, Miguel Ángel, Morin, Matías, Gallego-Martinez, Alvaro, Lopez-Escamez, Jose A, Borrego, Salud, Antiñolo, Guillermo, Amigo, Jorge, Salgado-Garrido, Josefa, Pasalodos-Sanchez, Sara, Morte, Beatriz, Carracedo, Ángel, Alonso, Ángel, Dopazo, Joaquín
Published in Nucleic acids research (08.01.2021)
Published in Nucleic acids research (08.01.2021)
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Journal Article
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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Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy
Bravo‐Alonso, Irene, Morin, Matías, Arribas‐Carreira, Laura, Álvarez, Mar, Pedrón‐Giner, Consuelo, Soletto, Lucia, Santolaria, Carlos, Ramón‐Maiques, Santiago, Ugarte, Magdalena, Rodríguez‐Pombo, Pilar, Ariño, Joaquín, Moreno‐Pelayo, Miguel Ángel, Pérez, Belén
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
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Journal Article
Genetic etiology of non-syndromic hearing loss in Europe
del Castillo, Ignacio, Morín, Matías, Domínguez-Ruiz, María, Moreno-Pelayo, Miguel A.
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
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Journal Article
Efficient CRISPR/Cas9-Mediated Gene Editing of Pklr in Human Hematopoietic Progenitors and Stem Cells for the Gene Therapy of Pyruvate Kinase Deficiency
Quintana Bustamante, Oscar, Fañanas-Baquero, Sara, Dever, Daniel P., Omaira, Alberquilla, Camarena, Joab, Sanchez-Dominguez, Rebeca, Morin, Matias, Fernandez, Val, Moreno-Pelayo, Miguel Angel, Bueren, Juan A., Porteus, Matthew, Segovia, Jose C
Published in Blood (29.11.2018)
Published in Blood (29.11.2018)
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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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Journal Article
Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants
Lachgar-Ruiz, María, Morín, Matías, Martelletti, Elisa, Ingham, Neil J, Preite, Lorenzo, Lewis, Morag A, de Castro, Luciana Santos Serrão, Steel, Karen P, Moreno-Pelayo, Miguel Ángel
Published in Disease models & mechanisms (01.08.2023)
Published in Disease models & mechanisms (01.08.2023)
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Journal Article
Evolution of CRISPR-associated endonucleases as inferred from resurrected proteins
Alonso-Lerma, Borja, Jabalera, Ylenia, Samperio, Sara, Morin, Matias, Fernandez, Almudena, Hille, Logan T, Silverstein, Rachel A, Quesada-Ganuza, Ane, Reifs, Antonio, Fernández-Peñalver, Sergio, Benitez, Yolanda, Soletto, Lucia, Gavira, Jose A, Diaz, Adrian, Vranken, Wim, Sanchez-Mejias, Avencia, Güell, Marc, Mojica, Francisco J M, Kleinstiver, Benjamin P, Moreno-Pelayo, Miguel A, Montoliu, Lluis, Perez-Jimenez, Raul
Published in Nature microbiology (01.01.2023)
Published in Nature microbiology (01.01.2023)
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Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse
Zhu, Guang‐Jie, Huang, Yuhang, Zhang, Linqing, Yan, Keji, Qiu, Cui, He, Yihan, Liu, Qing, Zhu, Chengwen, Morín, Matías, Moreno‐Pelayo, Miguel Ángel, Zhu, Min‐Sheng, Cao, Xin, Zhou, Han, Qian, Xiaoyun, Xu, Zhigang, Chen, Jie, Gao, Xia, Wan, Guoqiang
Published in EMBO molecular medicine (08.11.2023)
Published in EMBO molecular medicine (08.11.2023)
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Journal Article
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts
López-Márquez, Arístides, Morín, Matías, Fernández-Peñalver, Sergio, Badosa, Carmen, Hernández-Delgado, Alejandro, Natera-de Benito, Daniel, Ortez, Carlos, Nascimento, Andrés, Grinberg, Daniel, Balcells, Susanna, Roldán, Mónica, Moreno-Pelayo, Miguel Ángel, Jiménez-Mallebrera, Cecilia
Published in International journal of molecular sciences (16.04.2022)
Published in International journal of molecular sciences (16.04.2022)
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Selective miRNA inhibition in CD8+ cytotoxic T lymphocytes enhances HIV-1 specific cytotoxic responses
Madrid-Elena, Nadia, Serrano-Villar, Sergio, Gutiérrez, Carolina, Sastre, Beatriz, Morín, Matías, Luna, Laura, Martín, Laura, Santoyo-López, Javier, López-Huertas, María Rosa, Moreno, Elena, García-Bermejo, María Laura, Moreno-Pelayo, Miguel Ángel, Moreno, Santiago
Published in Frontiers in immunology (26.09.2022)
Published in Frontiers in immunology (26.09.2022)
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Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases
Domínguez-Ruiz, María, Olarte, Margarita, Onecha, Esther, García-Vaquero, Irene, Gelvez, Nancy, López, Greizy, Villamar, Manuela, Morín, Matías, Moreno-Pelayo, Miguel A, Morales-Angulo, Carmelo, Polo, Rubén, Tamayo, Martha L, del Castillo, Ignacio
Published in Genes (01.07.2024)
Published in Genes (01.07.2024)
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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
Patel, Mayher J, DiStefano, Marina T, Oza, Andrea M, Hughes, Madeline Y, Wilcox, Emma H, Hemphill, Sarah E, Cushman, Brandon J, Grant, Andrew R, Siegert, Rebecca K, Shen, Jun, Chapin, Alex, Boczek, Nicole J, Schimmenti, Lisa A, Nara, Kiyomitsu, Kenna, Margaret, Azaiez, Hela, Booth, Kevin T, Avraham, Karen B, Kremer, Hannie, Griffith, Andrew J, Rehm, Heidi L, Amr, Sami S, Tayoun, Ahmad N Abou
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia
Tarilonte, María, Morín, Matías, Ramos, Patricia, Galdós, Marta, Blanco-Kelly, Fiona, Villaverde, Cristina, Rey-Zamora, Dolores, Rebolleda, Gema, Muñoz-Negrete, Francisco J, Tahsin-Swafiri, Saoud, Gener, Blanca, Moreno-Pelayo, Miguel-Angel, Ayuso, Carmen, Villamar, Manuela, Corton, Marta
Published in Frontiers in genetics (17.10.2018)
Published in Frontiers in genetics (17.10.2018)
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