Search Results - "Castillo, Ignacio del"

Genetic etiology of non-syndromic hearing loss in Europe by del Castillo, Ignacio, Morín, Matías, Domínguez-Ruiz, María, Moreno-Pelayo, Miguel A.

“…Hearing impairment not etiologically associated with clinical signs in other organs (non-syndromic) is genetically heterogeneous, so that over 120 genes are…”
Get full text

Meridianins Rescue Cognitive Deficits, Spine Density and Neuroinflammation in the 5xFAD Model of Alzheimer's Disease by Rodríguez-Urgellés, Ened, Sancho-Balsells, Anna, Chen, Wanqi, López-Molina, Laura, Ballasch, Ivan, Del Castillo, Ignacio, Avila, Conxita, Alberch, Jordi, Giralt, Albert

“…Glycogen synthase kinase 3β (GSK3β) is a core protein, with a relevant role in many neurodegenerative disorders including Alzheimer's disease. The enzyme has…”
Get full text

Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations by 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

“…The human mitochondrial 12S ribosomal RNA (rRNA) A1555G mutation has been associated with aminoglycoside-induced and nonsyndromic deafness in many families…”
Get full text

Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment by 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

“…Already 40 genes have been identified for autosomal-recessive nonsyndromic hearing impairment (arNSHI); however, many more genes are still to be identified. In…”
Get full text

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss by 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

“…The fact that hereditary hearing loss is the most common sensory disorder in humans is reflected by, among other things, an extraordinary allelic and…”
Get full text

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF) by 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

“…Inherited hearing impairment affects one in 2,000 newborns. Nonsyndromic prelingual forms are inherited mainly as autosomal recessive traits, for which 16…”
Get full text

A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss by Modamio-Høybjør, Silvia, Mencía, Ángeles, Goodyear, Richard, del Castillo, Ignacio, Richardson, Guy, Moreno, Felipe, Moreno-Pelayo, Miguel Ángel

“…We previously mapped a novel autosomal dominant deafness locus, DFNA44, by studying a family with postlingual, progressive, nonsyndromic hearing loss. We…”
Get full text

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes by Del Castillo, Francisco J, Del Castillo, Ignacio

“…The inner ear is a very complex sensory organ whose development and function depend on finely balanced interactions among diverse cell types. The many…”
Get full text

Genetics of Hearing Impairment by Kremer, Hannie, Del Castillo, Ignacio

“…The inner ear is a complex structure at the cellular and molecular levels [...]…”
Get full text

GJB2: The spectrum of deafness-causing allele variants and their phenotype by 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.

“…Genetic testing was completed on 1,294 persons with deafness referred to the Molecular Otolaryngology Research Laboratories to establish a diagnosis of DFNB1…”
Get full text

Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations by Santarelli, Rosamaria, del Castillo, Ignacio, Cama, Elona, Scimemi, Pietro, Starr, Arnold

“…Mutations in the OTOF gene encoding otoferlin result in a disrupted function of the ribbon synapses with impairment of the multivesicular glutamate release…”
Get full text

Postnatal Foxp2 regulates early psychiatric-like phenotypes and associated molecular alterations in the R6/1 transgenic mouse model of Huntington's disease by Rodríguez-Urgellés, Ened, Rodríguez-Navarro, Irene, Ballasch, Iván, del Toro, Daniel, del Castillo, Ignacio, Brito, Verónica, Alberch, Jordi, Giralt, Albert

“…Huntington's Disease (HD) is a devastating disorder characterized by a triad of motor, psychiatric and cognitive manifestations. Psychiatric and emotional…”
Get full text

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss by 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

“…MicroRNAs (miRNAs) bind to complementary sites in their target mRNAs to mediate post-transcriptional repression, with the specificity of target recognition…”
Get full text

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel by 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.

“…Purpose Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and…”
Get full text

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study by 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

“…Inherited hearing impairment is a remarkably heterogeneous monogenic condition, involving hundreds of genes, most of them with very small (< 1%)…”
Get full text

Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing by 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

“…The transmembrane recognition complex (TRC40) pathway mediates the insertion of tail‐anchored (TA) proteins into membranes. Here, we demonstrate that…”
Get full text

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants by 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.

“…The mutational spectrum of many genes and their contribution to the global prevalence of hereditary hearing loss is still widely unknown. In this study, we…”
Get full text

Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases by 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

“…Dysfunction of some mitochondrial aminoacyl-tRNA synthetases (encoded by the , , and genes) results in a great variety of phenotypes ranging from non-syndromic…”
Get full text

Novel Pathogenic Variants in PJVK , the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder by Domínguez-Ruiz, María, Rodríguez-Ballesteros, Montserrat, Gandía, Marta, Gómez-Rosas, Elena, Villamar, Manuela, Scimemi, Pietro, Mancini, Patrizia, Rendtorff, Nanna D, Moreno-Pelayo, Miguel A, Tranebjaerg, Lisbeth, Medà, Carme, Santarelli, Rosamaria, Del Castillo, Ignacio

“…Pathogenic variants in the gene cause the DFNB59 type of autosomal recessive non-syndromic hearing impairment (AR-NSHI). Phenotypes are not homogeneous, as a…”
Get full text

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders by 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

“…Perrault syndrome is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing impairment and ovarian dysgenesis in…”
Get full text