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Genetics and Sensorineural Pathophysiology

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  • Oaxaca-Castillo D, Taño-Portuondo L, Rodríguez-Ballesteros M, Pérez-Mendoza G, García-González I, Canto-Herrera J, Domínguez-Ruiz M, Pinto-Escalante D, Vargas-Sierra O, Estrella-Castillo D, López-González P, Sosa-Escalante JE, Del Castillo I, González-Herrera L.

    A Novel 1259 bp Intragenic Deletion in the GJB2 Gene in a Mexican Family with Congenital Profound Hearing Loss.

    Audiology Research . 15(5): .

    [doi:10.3390/audiolres15050111]

  • López-Manzaneda S, Mencía Á, Bonafont J, Bassons-Bascuñana A, García M, Nyström A, Duarte B, Llames S, Murillas R, Modamio-Hoybjor S, Morín M, Soletto L, Escamez MJ, Moreno-Pelayo MA, Rio MD, Larcher F.

    Safe and Efficacious Permanent Removal of Large COL7A1 Exons for Gene Reframing as a Reliable Therapeutic Strategy for Recessive Dystrophic Epidermolysis Bullosa.

    HUM GENE THER . 36(17-18): 1211-1221.

    [doi:10.1089/hum.2024.238]

  • Domínguez-Ruiz M, Garrido G, Martínez-Beneyto P, Del Castillo FJ, Villamar M, Gómez-Rosas E, Moreno-Pelayo MA, Del Castillo I.

    De Novo Heterozygous GATA3 Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive Inheritance.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 26(13): .

    [doi:10.3390/ijms26136363]

  • Tshering KC, DiStefano MT, Oza AM, Ajuyah P, Webb R, Edoh E, Broeren E, Ratliff J, Gitau V, Paris K, Aburyyan A, Alexander J, Albano V, Bai D, Booth KT, Buonfiglio PI, Charfeddine C, Dalamón V, Del Castillo I, Moreno-Pelayo MA, Duzkale H, Dorshorst B, Faridi R, Kenna M, Lewis MA, Luo M, Lu Y, Mkaouar R, Matsunaga T, Nara K, Pandya A, Redfield S, Roux I, Schimmenti LA, Schrauwen I, Shaaban S, Shen J, Vona B, Smith RJ, Rehm HL, Azaiez H, Abou Tayoun AN, Amr SS.

    ClinGen recuration of hearing loss associated-genes demonstrates significant changes in gene-disease validity over time.

    GENETICS IN MEDICINE . 27(5): 101392-101392.

    [doi:10.1016/j.gim.2025.101392]

  • Calderón EJ, Rodríguez-Fernández A, Calderón-Baturone I, Aporta-Rodríguez R, del Castillo FJ, García-Díaz L, González-Meneses A, Hermosín-Ramos ML, Yahyaoui R, Marín-León I.

    Spanish consensus on managing pregnancy in women with Gaucher disease.

    ORPHANET JOURNAL OF RARE DISEASES . 20(1): 146-146.

    [doi:10.1186/s13023-025-03684-6]

  • Hammoud, Miloud, Dominguez-Ruiz, Maria, Assiri, Imane, Rodrigues, Daniel, Aboussair, Nisrine, Lanza, Val F., Villarrubia, Jesus, Colon, Cristobal, Fdil, Naima, del Castillo, Francisco J..

    Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS)

    GENES . 15(12): .

    [doi:10.3390/genes15121515]

  • Araujo-Castro M, Ruiz-Sánchez JG, Gonzalvo C, Lamas C, Parra Ramírez P, Martín Marcos-Rojas P, Paja M, Robles Lázaro C, Michalapou T, Tous M, González M, Recio Córdova JM, Casteras A, Fernández-Álvarez P, Barca Tierno V, Mulatero P.

    Genetic testing for primary aldosteronism in SPAIN: Results from the SPAIN-ALDO Registry and review of the literature.

    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM . : .

    [doi:10.1210/clinem/dgae523]

  • Morales-Angulo C, Gallo-Terán J, González-Aguado R, Onecha E, Del Castillo I.

    Hearing loss secondary to variants in the OTOF gene.

    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY . 186: 112082-112082.

    [doi:10.1016/j.ijporl.2024.112082]

  • Lewis MA, Lachgar-Ruiz M, Di Domenico F, Duddy G, Chen J, Fernandez S, Morin M, Williams G, Moreno Pelayo MA, Steel KP.

    Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations.

    GENOME MEDICINE . 16(1): 121-121.

    [doi:10.1186/s13073-024-01394-5]

  • Gallo-Terán J, Salomón-Felechosa C, González-Aguado R, Onecha E, Fontalba A, Del Castillo I, Morales-Angulo C.

    Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene.

    Laryngoscope . : .

    [doi:10.1002/lary.31796]

  • Vida-Navas, Elena, Barca-Tierno, Veronica, Lopez-Gomez, Victoria, Salazar, Maria Teresa, Moreno-Pelayo, Miguel A., Guillen-Ponce, Carmen.

    Constitutional Mutation of PIK3CA: A Variant of Cowden Syndrome?

    GENES . 15(9): .

    [doi:10.3390/genes15091209]

  • Sánchez Carretero L, Cardeñosa Pérez ÀC, Peces-Barba G, Pérez-Rial S.

    Differential lung gene expression identified Zscan2 and Bag6 as novel tissue repair players in an experimental COPD model.

    Plos One . 19(8): .

    [doi:10.1371/journal.pone.0309166]

  • Domínguez-Ruiz M, Olarte M, Onecha E, García-Vaquero I, Gelvez N, López G, Villamar M, Morín M, Moreno-Pelayo MA, Morales-Angulo C, Polo R, Tamayo ML, Del Castillo I.

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

    GENES . 15(7): .

    [doi:10.3390/genes15070951]

  • Domínguez-Ruiz M, Murillo-Cuesta S, Contreras J, Cantero M, Garrido G, Martín-Bernardo B, Gómez-Rosas E, Fernández A, Del Castillo FJ, Montoliu L, Varela-Nieto I, Del Castillo I.

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

    Bmc Genomics . 25(1): 359-359.

    [doi:10.1186/s12864-024-10289-z]

  • Fernández-Caballero L, Martín-Merida I, Blanco-Kelly F, Avila-Fernandez A, Carreño E, Fernandez-San Jose P, Irigoyen C, Jimenez-Rolando B, Lopez-Grondona F, Mahillo I, Martin-Gutierrez MP, Minguez P, Perea-Romero I, Del Pozo-Valero M, Riveiro-Alvarez R, Rodilla C, Rodriguez-Peña L, Sánchez-Barbero AI, Swafiri ST, Trujillo-Tiebas MJ, Zurita O, García-Sandoval B, Corton M, Ayuso C.

    PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(5): . Number of citations: 2

    [doi:10.3390/ijms25052913]

  • Santarelli R, Scimemi P, Cama E, Domínguez-Ruiz M, Bonora C, Gallo C, Rodríguez-Ballesteros M, Del Castillo I.

    Preservation of Distortion Product Otoacoustic Emissions in OTOF-Related Hearing Impairment.

    EAR AND HEARING . 45(1): 250-256.

    [doi:10.1097/AUD.0000000000001421]

  • Domínguez-Ruiz M, Ruiz-Palmero L, Buonfiglio PI, García-Vaquero I, Gómez-Rosas E, Goñi M, Villamar M, Morín M, Moreno-Pelayo MA, Elgoyhen AB, Del Castillo FJ, Dalamón V, Del Castillo I.

    Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

    Biomedicines . 11(11): . Number of citations: 3

    [doi:10.3390/biomedicines11112943]

  • Stanescu S, Correcher Medina P, Del Castillo FJ, Alonso Luengo O, Arto Millan LM, Belanger Quintana A, Camprodon Gomez M, Diez Langhetée L, Garcia Campos O, Matas Garcia A, Perez-Moreno J, Rubio Gribble B, Visa-Reñé N, Giraldo-Castellano P, O'Callaghan Gordo M.

    Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

    Biomedicines . 11(10): . Number of citations: 2

    [doi:10.3390/biomedicines11102861]