L
Luis A. Aguirre
Researcher at Hospital Universitario La Paz
Publications - 33
Citations - 1529
Luis A. Aguirre is an academic researcher from Hospital Universitario La Paz. The author has contributed to research in topics: Immune system & Immune checkpoint. The author has an hindex of 14, co-authored 28 publications receiving 1264 citations. Previous affiliations of Luis A. Aguirre include Centro Nacional de Investigaciones Cardiovasculares.
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Journal ArticleDOI
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.
Ángeles Mencía,Silvia Modamio-Høybjør,Nick Redshaw,Matías Morín,Fernando Mayo-Merino,Leticia Olavarrieta,Luis A. Aguirre,Ignacio del Castillo,Karen P. Steel,Tamas Dalmay,Felipe Moreno,M A Moreno-Pelayo +11 more
TL;DR: It is shown that point mutations in the seed region of miR-96, a miRNAs expressed in hair cells of the inner ear, result in autosomal dominant, progressive hearing loss and this is the first study implicating a miRNA in a mendelian disorder.
Journal ArticleDOI
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
F J del Castillo,Montserrat Rodríguez-Ballesteros,Araceli Álvarez,Hutchin Tp,Emanuela Leonardi,C. A. M. de Oliveira,Hela Azaiez,Zippora Brownstein,Matthew R. Avenarius,Sandrine Marlin,Arti Pandya,Hashem Shahin,Kirby Siemering,Dominique Weil,Wim Wuyts,Luis A. Aguirre,Y. Martin,M A Moreno-Pelayo,Manuela Villamar,Karen B. Avraham,H.-H. M. Dahl,Moien Kanaan,Walter E. Nance,Christine Petit,Richard J.H. Smith,G. Van Camp,Edi Lúcia Sartorato,Alessandra Murgia,F Moreno,I del Castillo +29 more
TL;DR: The finding of a large number of affected subjects with only one GJB2 mutant allele complicates the molecular diagnosis of DFNB1 deafness, which has become the standard of care for the diagnosis of patients with non-syndromic hearing impairment of unknown cause.
Journal ArticleDOI
High prevalence of the W24X mutation in the gene encoding connexin‐26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non‐syndromic hearing loss
Araceli Álvarez,Ignacio del Castillo,Manuela Villamar,Luis A. Aguirre,Anna González-Neira,Alicia López-Nevot,Miguel A. Moreno-Pelayo,Felipe Moreno +7 more
TL;DR: It is found that DFNB1 deafness accounts for 50% of all ARNSHI in Spanish gypsies, and the predominating allele is W24X, all sharing the same allele from marker D13S141, suggesting that a founder effect for this mutation is responsible for its high prevalence among Spanish Gypsies.
Journal ArticleDOI
Hypoxia-induced PD-L1/PD-1 crosstalk impairs T-cell function in sleep apnoea.
Carolina Cubillos-Zapata,José Avendaño-Ortiz,Enrique Hernández-Jiménez,Victor Toledano,Jose Casas-Martin,Aníbal Varela-Serrano,Marta Torres,Isaac Almendros,Raquel Casitas,Isabel Fernández-Navarro,Aldara García-Sánchez,Luis A. Aguirre,Ramon Farré,Eduardo López-Collazo,Francisco García-Río +14 more
TL;DR: Intermittent hypoxia upregulated the PD-L1/PD-1 crosstalk in patients with OSA, resulting in a reduction in CD8+ T-cell activation and cytotoxicity, providing biological plausibility to the increased incidence and aggressiveness of cancer and the higher risk of infections described in these patients.
Journal ArticleDOI
Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-chromosomal Hearing Loss
Antje K. Huebner,Marta Gandía,Peter Frommolt,Anika Maak,Eva Maria Wicklein,Holger Thiele,Janine Altmüller,Florian Wagner,Antonio Viñuela,Luis A. Aguirre,Felipe Moreno,Hannes Maier,Isabella Rau,Sebastian Gießelmann,Gudrun Nürnberg,Andreas Gal,Peter Nürnberg,Christian A. Hübner,Ignacio del Castillo,Ingo Kurth +19 more
TL;DR: It is proposed that long-term maintenance of mechanically stressed inner-ear cells critically depends on SMPX function, and a loss-of-function mechanism underlying this form of hearing impairment is suggested.