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Genetics and sensorineural pathophysiology

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  • 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): .

    [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): .

    [doi:10.3390/biomedicines11102861]

  • Saceda-Corralo D, Ortega-Quijano D, Muñoz-Martín G, Moreno-Arrones ÓM, Pindado-Ortega C, Rayinda T, Melián-Olivera A, Azcárraga-Llobet C, Burgos-Blasco P, Castañeda-Bermúdez ME, del Castillo FJ, Vañó-Galván S.

    Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia.

    ACTA DERMATO-VENEREOLOGICA . 103: 9604-9604.

    [doi:10.2340/actadv.v103.9604]

  • Zhu GJ, Huang Y, Zhang L, Yan K, Qiu C, He Y, Liu Q, Zhu C, Morín M, Moreno-Pelayo MÁ, Zhu MS, Cao X, Zhou H, Qian X, Xu Z, Chen J, Gao X, Wan G.

    Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse

    EMBO MOLECULAR MEDICINE . : .

    [doi:10.15252/emmm.202317611]

  • Lachgar-Ruiz M, Morín M, Martelletti E, Ingham NJ, Preite L, Lewis MA, de Castro LSS, Steel KP, Moreno-Pelayo MÁ.

    Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.

    DISEASE MODELS & MECHANISMS . 16(8): .

    [doi:10.1242/dmm.049757]

  • Fañanas-Baquero S, Morín M, Fernández S, Ojeda-Perez I, Dessy-Rodriguez M, Giurgiu M, Bueren JA, Moreno-Pelayo MA, Segovia JC, Quintana-Bustamante O.

    Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.

    Frontiers In Genome Editing . 5: 1104666-1104666.

    [doi:10.3389/fgeed.2023.1104666]

  • Bravo-Alonso I, Morin M, Arribas-Carreira L, Álvarez M, Pedrón-Giner C, Soletto L, Santolaria C, Ramón-Maiques S, Ugarte M, Rodríguez-Pombo P, Ariño J, Moreno-Pelayo MÁ, Pérez B.

    Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy

    Journal of inherited metabolic disease . 46(2): 261-272. Number of citations: 2

    [doi:10.1002/jimd.12584]

  • Alonso-Lerma B, Jabalera Y, Samperio S, Morin M, Fernandez A, Hille LT, Silverstein RA, Quesada-Ganuza A, Reifs A, Fernández-Peñalver S, Benitez Y, Soletto L, Gavira JA, Diaz A, Vranken W, Sanchez-Mejias A, Güell M, Mojica FJM, Kleinstiver BP, Moreno-Pelayo MA, Montoliu L, Perez-Jimenez R.

    Evolution of CRISPR-associated endonucleases as inferred from resurrected proteins

    Nature Microbiology . 8(1): 77-90. Number of citations: 6

    [doi:10.1038/s41564-022-01265-y]

  • Møller P, Seppälä T, Dowty JG, Haupt S, Dominguez-Valentin M, Sunde L, Bernstein I, Engel C, Aretz S, Nielsen M, Capella G, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Valle AD, Heinimann K, Half E, Lopez-Koestner F, Alvarez-Valenzuela K, Scott RJ, Katz L, Laish I, Vainer E, Vaccaro CA, Carraro DM, Gluck N, Abu-Freha N, Stakelum A, Kennelly R, Winter D, Rossi BM, Greenblatt M, Bohorquez M, Sheth H, Tibiletti MG, Lino-Silva LS, Horisberger K, Portenkirchner C, Nascimento I, Rossi NT, da Silva LA, Thomas H, Zaránd A, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepisto A, Peltomäki P, Therkildsen C, Lindberg LJ, Thorlacius-Ussing O, von Knebel Doeberitz M, Loeffler M, Rahner N, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, de Vargas AF, Latchford A, Gerdes AM, Backman AS, Guillén-Ponce C, Snyder C, Lautrup CK, Amor D, Palmero E, Stoffel E, Duijkers F, Hall MJ, Hampel H, Williams H, Okkels H, Lubinski J, Reece J, Ngeow J, Guillem JG, Arnold J, Wadt K, Monahan K, Senter L, Rasmussen LJ, van Hest LP, Ricciardiello L, Kohonen-Corish MRJ, Ligtenberg MJL, Southey M, Aronson M, Zahary MN, Samadder NJ, Poplawski N, Hoogerbrugge N, Morrison PJ, James P, Lee G, Chen-Shtoyerman R, Ankathil R, Pai R, Ward R, Parry S, Debniak T, John T, van Overeem Hansen T, Caldés T, Yamaguchi T, Barca-Tierno V, Garre P, Cavestro GM, Weitz J, Redler S, Büttner R, Heuveline V, Hopper JL, Win AK, Lindor N, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo J, Buchanan DD, Thibodeau SN, Ten Broeke SW, Hovig E, Nakken S, Pineda M, Dueñas N, Brunet J, Green K, Lalloo F, Newton K, Crosbie EJ, Mints M, Tjandra D, Neffa F, Esperon P, Kariv R, Rosner G, Pavicic WH, Kalfayan P, Torrezan GT, Bassaneze T, Martin C, Moslein G, Ahadova A, Kloor M, Sampson JR, Jenkins MA.

    Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.

    HEREDITARY CANCER IN CLINICAL PRACTICE . 20(1): 36-36. Number of citations: 1

    [doi:10.1186/s13053-022-00241-1]

  • Garcia B, Catasus N, Ros A, Rosas I, Negro A, Guerrero-Murillo M, Valero AM, Duat-Rodriguez A, Becerra JL, Bonache S, Lázaro Garcia C, Comas C, Bielsa I, Serra E, Hernández-Chico C, Martin Y, Castellanos E, Blanco I.

    Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

    JOURNAL OF MEDICAL GENETICS . 59(10): 1017-1023. Number of citations: 4

    [doi:10.1136/jmedgenet-2021-108301]

  • Madrid-Elena N, Serrano-Villar S, Gutiérrez C, Sastre B, Morín M, Luna L, Martín L, Santoyo-López J, López-Huertas MR, Moreno E, García-Bermejo ML, Moreno-Pelayo MÁ, Moreno S.

    Selective miRNA inhibition in CD8(+) cytotoxic T lymphocytes enhances HIV-1 specific cytotoxic responses.

    Frontiers in immunology . 13: 998368-998368.

    [doi:10.3389/fimmu.2022.998368]

  • Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, Jain SP, Chioza BA, Walz K, Steel KP, Nasir J, Tekin M.

    Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA . 119(26): . Number of citations: 4

    [doi:10.1073/pnas.2204084119]

  • López-Márquez A, Morín M, Fernández-Peñalver S, Badosa C, Hernández-Delgado A, Natera-de Benito D, Ortez C, Nascimento A, Grinberg D, Balcells S, Roldán M, Moreno-Pelayo MÁ, Jiménez-Mallebrera C.

    CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(8): . Number of citations: 4

    [doi:10.3390/ijms23084410]

  • Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA.

    Genetic etiology of non-syndromic hearing loss in Europe.

    HUMAN GENETICS . 141(3-4): 683-696.

    [doi:10.1007/s00439-021-02425-6]

  • Domínguez-Ruiz M, Rodríguez-Ballesteros M, Gandía M, Gómez-Rosas E, Villamar M, Scimemi P, Mancini P, Rendtorff ND, Moreno-Pelayo MA, Tranebjaerg L, Medà C, Santarelli R, Del Castillo I.

    Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

    GENES . 13(1): . Number of citations: 6

    [doi:10.3390/genes13010149]

  • Santarelli R, Scimemi P, La Morgia C, Cama E, Del Castillo I, Carelli V.

    Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene

    Audiology Research . 11(4): 639-652.

    [doi:10.3390/audiolres11040059]

  • Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA, ClinGen Hearing Loss Clinical Domain Working Group.

    Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

    GENETICS IN MEDICINE . 23(11): 2208-2212. Number of citations: 15

    [doi:10.1038/s41436-021-01254-2]

  • Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo MA, Ayuso C, Cortón M.

    Genetics and epidemiology of aniridia: Updated guidelines for genetic study.

    Archivos De La Sociedad Espanola De Oftalmologia . 96 Suppl 1: 4-14.

    [doi:10.1016/j.oftale.2021.02.002]