Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Ignacio, Del Castillo"'
Autor:
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J. del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio del Castillo
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Inherited hearing impairment is a remarkably heterogeneous monogenic condition, involving hundreds of genes, most of them with very small ( 90 dB SPL) that correlates with specific structural abnormalities in the cochlea. We show that Gjb2 e
Externí odkaz:
https://doaj.org/article/005dfd86e59541f7888dab03f10a4e7b
Autor:
Laurence Jonard, Davide Brotto, Miguel A. Moreno-Pelayo, Ignacio del Castillo, Hannie Kremer, Ronald Pennings, Helena Caria, Graça Fialho, An Boudewyns, Guy Van Camp, Monika Ołdak, Dominika Oziębło, Naïma Deggouj, Romolo Daniele De Siati, Paolo Gasparini, Giorgia Girotto, Margriet Verstreken, Silvia Dossena, Sebastian Roesch, Saba Battelino, Katarina Trebušak Podkrajšek, Athanasia Warnecke, Thomas Lenarz, Anke Lesinski-Schiedat, Michel Mondain, Anne-Françoise Roux, Françoise Denoyelle, Natalie Loundon, Margaux Serey Gaut, Patrizia Trevisi, Elisa Rubinato, Alessandro Martini, Sandrine Marlin
Publikováno v:
Audiology Research, Vol 13, Iss 3, Pp 341-346 (2023)
The cause of childhood hearing impairment (excluding infectious pathology of the middle ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug ototoxicity, noise trauma, etc [...]
Externí odkaz:
https://doaj.org/article/1f272fa0e4ba4f1d9885851b72d3604b
Autor:
María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I. Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Marina Goñi, Manuela Villamar, Matías Morín, Miguel A. Moreno-Pelayo, Ana B. Elgoyhen, Francisco J. del Castillo, Viviana Dalamón, Ignacio del Castillo
Publikováno v:
Biomedicines, Vol 11, Iss 11, p 2943 (2023)
Non-syndromic hearing impairment (NSHI) is a very heterogeneous genetic condition, involving over 130 genes. Mutations in GJB2, encoding connexin-26, are a major cause of NSHI (the DFNB1 type), but few other genes have significant epidemiological con
Externí odkaz:
https://doaj.org/article/992bbf9bae834364a262f8b6f33463a6
Autor:
Rosamaria Santarelli, Pietro Scimemi, Chiara La Morgia, Elona Cama, Ignacio del Castillo, Valerio Carelli
Publikováno v:
Audiology Research, Vol 11, Iss 4, Pp 639-652 (2021)
Auditory Neuropathy (AN) is characterized by disruption of temporal coding of acoustic signals in auditory nerve fibers resulting in alterations of auditory perceptions. Mutations in several genes have been associated to the most forms of AN. Underly
Externí odkaz:
https://doaj.org/article/37e0df065ec847a69e75d200f3a1997c
Autor:
Ened Rodríguez-Urgellés, Irene Rodríguez-Navarro, Iván Ballasch, Daniel del Toro, Ignacio del Castillo, Verónica Brito, Jordi Alberch, Albert Giralt
Publikováno v:
Neurobiology of Disease, Vol 173, Iss , Pp 105854- (2022)
Huntington's Disease (HD) is a devastating disorder characterized by a triad of motor, psychiatric and cognitive manifestations. Psychiatric and emotional symptoms appear at early stages of the disease which are consistently described by patients and
Externí odkaz:
https://doaj.org/article/86a7a8605c3d47a28a08bc9fdaf8c76e
Autor:
Sergi Huerta-Calpe, Ignacio Del Castillo-Velilla, Aida Felipe-Villalobos, Iolanda Jordan, Lluïsa Hernández-Platero
Publikováno v:
Children, Vol 10, Iss 5, p 852 (2023)
Juvenile-onset systemic lupus erythematosus (jSLE) is a multisystemic disease diagnosed in young patients based on the clinical criteria of the European League Against Rheumatism (EULAR) and the American College of Rheumatology (ACR). The importance
Externí odkaz:
https://doaj.org/article/048ce24abfac4439818fce8a9932c38c
Autor:
Ened Rodríguez-Urgellés, Anna Sancho-Balsells, Wanqi Chen, Laura López-Molina, Ivan Ballasch, Ignacio del Castillo, Conxita Avila, Jordi Alberch, Albert Giralt
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
Glycogen synthase kinase 3β (GSK3β) is a core protein, with a relevant role in many neurodegenerative disorders including Alzheimer’s disease. The enzyme has been largely studied as a potential therapeutic target for several neurological diseases
Externí odkaz:
https://doaj.org/article/d60990af8ded45d1b95ff150c2ee6b91
Autor:
María Domínguez-Ruiz, Alberto García-Martínez, Marc Corral-Juan, Ángel I. Pérez-Álvarez, Ana M. Plasencia, Manuela Villamar, Miguel A. Moreno-Pelayo, Antoni Matilla-Dueñas, Manuel Menéndez-González, Ignacio del Castillo
Publikováno v:
Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-10 (2019)
Abstract Background Perrault syndrome is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing impairment and ovarian dysgenesis in females, whereas males have only hearing impairment. In some cases, pa
Externí odkaz:
https://doaj.org/article/851456974b1e4a98b048239298bf4543
Publikováno v:
Human Genetics. 141:683-696
Hearing impairment not etiologically associated with clinical signs in other organs (non-syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be involved. The frequency of mutations in each gene and the most frequent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87692a2e19aada4e0c69a102533067fd
https://doi.org/10.1007/s00439-021-02425-6
https://doi.org/10.1007/s00439-021-02425-6
Autor:
Santarelli, Rosamaria, Scimemi, Pietro, Maria, Dominguez-Ruiz, Alessandra, Ferraboschi, Marica, Pistello, Anna Chiara Mardegan, Michela, Calegaro, Ignacio del Castillo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3657::052316c1cdac23770d762681ff5b8f7c
https://hdl.handle.net/11577/3485281
https://hdl.handle.net/11577/3485281
