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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Meridianins Rescue Cognitive Deficits, Spine Density and Neuroinflammation in the 5xFAD Model of Alzheimer's Disease
Rodríguez-Urgellés, Ened, Sancho-Balsells, Anna, Chen, Wanqi, López-Molina, Laura, Ballasch, Ivan, Del Castillo, Ignacio, Avila, Conxita, Alberch, Jordi, Giralt, Albert
Published in Frontiers in pharmacology (24.02.2022)
Published in Frontiers in pharmacology (24.02.2022)
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Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations
Guan, Min-Xin, Yan, Qingfeng, Li, Xiaoming, Bykhovskaya, Yelena, Gallo-Teran, Jaime, Hajek, Petr, Umeda, Noriko, Zhao, Hui, Garrido, Gema, Mengesha, Emebet, Suzuki, Tsutomu, Castillo, Ignacio del, Peters, Jennifer Lynne, Li, Ronghua, Qian, Yaping, Wang, Xinjian, Ballana, Ester, Shohat, Mordechai, Lu, Jianxin, Estivill, Xavier, Watanabe, Kimitsuna, Fischel-Ghodsian, Nathan
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment
SCHRADERS, Margit, RUIZ-PALMERO, Laura, OONK, Anne M. M, KUNST, Henricus P. M, DOMINGUEZ-RUIZ, Maria, GARCIA-ARUMI, Ana M, DEL CAMPO, Miguel, VILLAMAR, Manuela, HOEFSLOOT, Lies H, MORENO, Felipe, ADMIRAAL, Ronald J. C, DEL CASTILLO, Ignacio, KALAY, Ersan, KREMER, Hannie, OOSTRIK, Jaap, DEL CASTILLO, Francisco J, SEZGIN, Orhan, BEYNON, Andy J, STROM, Tim M, PENNINGS, Ronald J. E, CELIA ZAZO SECO
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
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Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss
Huebner, Antje K., Gandia, Marta, Frommolt, Peter, Maak, Anika, Wicklein, Eva M., Thiele, Holger, Altmüller, Janine, Wagner, Florian, Viñuela, Antonio, Aguirre, Luis A., Moreno, Felipe, Maier, Hannes, Rau, Isabella, Gießelmann, Sebastian, Nürnberg, Gudrun, Gal, Andreas, Nürnberg, Peter, Hübner, Christian A., del Castillo, Ignacio, Kurth, Ingo
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)
Rodríguez-Ballesteros, Montserrat, del Castillo, Francisco J., Martín, Yolanda, Moreno-Pelayo, Miguel A., Morera, Constantino, Prieto, Félix, Marco, Jaime, Morant, Antonio, Gallo-Terán, Jaime, Morales-Angulo, Carmelo, Navas, Cristina, Trinidad, Germán, Tapia, M. Cruz, Moreno, Felipe, Castillo, Ignacio del
Published in Human mutation (01.12.2003)
Published in Human mutation (01.12.2003)
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A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss
Modamio-Høybjør, Silvia, Mencía, Ángeles, Goodyear, Richard, del Castillo, Ignacio, Richardson, Guy, Moreno, Felipe, Moreno-Pelayo, Miguel Ángel
Published in American journal of human genetics (01.06.2007)
Published in American journal of human genetics (01.06.2007)
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GJB2: The spectrum of deafness-causing allele variants and their phenotype
Azaiez, Hela, Chamberlin, G. Parker, Fischer, Stephanie M., Welp, Chelsea L., Prasad, Sai D., Taggart, R. Thomas, Castillo, Ignacio del, Camp, Guy Van, Smith, Richard J. H.
Published in Human mutation (01.10.2004)
Published in Human mutation (01.10.2004)
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Postnatal Foxp2 regulates early psychiatric-like phenotypes and associated molecular alterations in the R6/1 transgenic mouse model of Huntington's disease
Rodríguez-Urgellés, Ened, Rodríguez-Navarro, Irene, Ballasch, Iván, del Toro, Daniel, del Castillo, Ignacio, Brito, Verónica, Alberch, Jordi, Giralt, Albert
Published in Neurobiology of disease (15.10.2022)
Published in Neurobiology of disease (15.10.2022)
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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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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Shen, Jun, Oza, Andrea M, Del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P, Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J, Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Wai Choy, Kwong, Cheng, Yen-Fu, Avraham, Karen B, Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A, Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E, Grant, Andrew R, Siegert, Rebecca K, DiStefano, Marina T, Amr, Sami S, Rehm, Heidi L, Abou Tayoun, Ahmad N
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study
Domínguez-Ruiz, María, Murillo-Cuesta, Silvia, Contreras, Julio, Cantero, Marta, Garrido, Gema, Martín-Bernardo, Belén, Gómez-Rosas, Elena, Fernández, Almudena, Del Castillo, Francisco J, Montoliu, Lluís, Varela-Nieto, Isabel, Del Castillo, Ignacio
Published in BMC genomics (11.04.2024)
Published in BMC genomics (11.04.2024)
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Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing
Vogl, Christian, Panou, Iliana, Yamanbaeva, Gulnara, Wichmann, Carolin, Mangosing, Sara J, Vilardi, Fabio, Indzhykulian, Artur A, Pangršič, Tina, Santarelli, Rosamaria, Rodriguez-Ballesteros, Montserrat, Weber, Thomas, Jung, Sangyong, Cardenas, Elena, Wu, Xudong, Wojcik, Sonja M, Kwan, Kelvin Y, del Castillo, Ignacio, Schwappach, Blanche, Strenzke, Nicola, Corey, David P, Lin, Shuh-Yow, Moser, Tobias
Published in The EMBO journal (01.12.2016)
Published in The EMBO journal (01.12.2016)
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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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Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
Domínguez-Ruiz, María, García-Martínez, Alberto, Corral-Juan, Marc, Pérez-Álvarez, Ángel I, Plasencia, Ana M, Villamar, Manuela, Moreno-Pelayo, Miguel A, Matilla-Dueñas, Antoni, Menéndez-González, Manuel, Del Castillo, Ignacio
Published in Journal of translational medicine (28.08.2019)
Published in Journal of translational medicine (28.08.2019)
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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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