Publications by authors named "Ignacio del Castillo"

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Microglia depletion in a mouse model of prenatal and postnatal immune activation.
Naomi Ciano Albanese, Ignacio Del Castillo, Giulia Ragaglia, Giulia Castellano, Maria Antonietta Ajmone-Cat

Brain Behav Immun· October 2025

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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Kezang C Tshering, Marina T DiStefano, Andrea M Oza, Pamela Ajuyah, Ryan Webb, Ignacio Del Castillo

Genet Med· October 2025

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DB-OTO Gene Therapy for Inherited Deafness.
Vassili Valayannopoulos, Manohar Bance, Daniela S Carvalho, John H Greinwald, Steven A Harvey, Ignacio Del Castillo

N Engl J Med· October 2025

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A Novel 1259 bp Intragenic Deletion in the Gene in a Mexican Family with Congenital Profound Hearing Loss.
David Oaxaca-Castillo, Laura Taño-Portuondo, Montserrat Rodríguez-Ballesteros, Gerardo Pérez-Mendoza, Igrid García-González, Damaris Estrella-Castillo, Ignacio Del Castillo

Audiol Res· September 2025

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De Novo Heterozygous Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive Inheritance.
María Domínguez-Ruiz, Gema Garrido, Paz Martínez-Beneyto, Francisco J Del Castillo, Manuela Villamar, Ignacio Del Castillo

Int J Mol Sci· July 2025

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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Kezang C Tshering, Marina T DiStefano, Andrea M Oza, Pamela Ajuyah, Ryan Webb, Ignacio Del Castillo

Genet Med· May 2025

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Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene.
Jaime Gallo-Terán, Cristina Salomón-Felechosa, Rocío González-Aguado, Esther Onecha, Ana Fontalba, Ignacio Del Castillo

Laryngoscope· February 2025

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Hearing loss secondary to variants in the OTOF gene.
Carmelo Morales-Angulo, Jaime Gallo-Terán, Rocío González-Aguado, Esther Onecha, Ignacio Del Castillo

Int J Pediatr Otorhinolaryngol· November 2024

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Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.
María Domínguez-Ruiz, Margarita Olarte, Esther Onecha, Irene García-Vaquero, Nancy Gelvez, Ignacio Del Castillo

Genes (Basel)· July 2024

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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.
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Francisco J Del Castillo, Ignacio Del Castillo

BMC Genomics· April 2024

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Preservation of Distortion Product Otoacoustic Emissions in OTOF -Related Hearing Impairment.
Rosamaria Santarelli, Pietro Scimemi, Elona Cama, María Domínguez-Ruiz, Chiara Bonora, Ignacio Del Castillo

Ear Hear· December 2023

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Thalamic Foxp2 regulates output connectivity and sensory-motor impairments in a model of Huntington's Disease.
Ened Rodríguez-Urgellés, Diana Casas-Torremocha, Anna Sancho-Balsells, Iván Ballasch, Esther García-García, Ignacio Del Castillo

Cell Mol Life Sci· November 2023

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Novel Pathogenic Variants in the Gene Encoding Stereocilin () Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.
María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Francisco J Del Castillo, Ignacio Del Castillo

Biomedicines· October 2023

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Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Laurence Jonard, Davide Brotto, Miguel A Moreno-Pelayo, Ignacio Del Castillo, Hannie Kremer

Audiol Res· May 2023

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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.
Ened Rodríguez-Urgellés, Irene Rodríguez-Navarro, Iván Ballasch, Daniel Del Toro, Ignacio Del Castillo

Neurobiol Dis· October 2022

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Genetics of Hearing Impairment.
Hannie Kremer, Ignacio Del Castillo

Genes (Basel)· May 2022

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Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception.
Rosamaria Santarelli, Pietro Scimemi, Marco Costantini, María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Ignacio Del Castillo

Ear Hear· April 2022

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

Hum Genet· April 2022

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

Front Pharmacol· February 2022

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Novel Pathogenic Variants in , the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Ignacio Del Castillo

Genes (Basel)· January 2022

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Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene.
Rosamaria Santarelli, Pietro Scimemi, Chiara La Morgia, Elona Cama, Ignacio Del Castillo

Audiol Res· November 2021

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A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.
María Lachgar, Matías Morín, Manuela Villamar, Ignacio Del Castillo, Miguel Ángel Moreno-Pelayo

Genes (Basel)· March 2021

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Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.
Matias Morín, Lucía Borreguero, Kevin T Booth, María Lachgar, Patrick Huygen, Ignacio Del Castillo

Sci Rep· April 2020

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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Jun Shen, Andrea M Oza, Ignacio Del Castillo, Hatice Duzkale, Tatsuo Matsunaga

Genet Med· November 2019

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Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
María Domínguez-Ruiz, Alberto García-Martínez, Marc Corral-Juan, Ángel I Pérez-Álvarez, Ana M Plasencia, Ignacio Del Castillo

J Transl Med· August 2019

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