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Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I. Huebner AK, et al. Among authors: aguirre la. Am J Hum Genet. 2011 May 13;88(5):621-7. doi: 10.1016/j.ajhg.2011.04.007. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549336 Free PMC article.
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.
Rodríguez-Ballesteros M, Olarte M, Aguirre LA, Galán F, Galán R, Vallejo LA, Navas C, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I. Rodríguez-Ballesteros M, et al. Among authors: aguirre la. J Med Genet. 2006 Nov;43(11):e54. doi: 10.1136/jmg.2006.042440. J Med Genet. 2006. PMID: 17085680 Free PMC article.
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.
del Castillo FJ, Rodríguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I. del Castillo FJ, et al. Among authors: aguirre la. J Med Genet. 2005 Jul;42(7):588-94. doi: 10.1136/jmg.2004.028324. J Med Genet. 2005. PMID: 15994881 Free PMC article. No abstract available.
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
Immune Response and COVID-19: A mirror image of Sepsis.
López-Collazo E, Avendaño-Ortiz J, Martín-Quirós A, Aguirre LA. López-Collazo E, et al. Among authors: aguirre la. Int J Biol Sci. 2020 Jul 9;16(14):2479-2489. doi: 10.7150/ijbs.48400. eCollection 2020. Int J Biol Sci. 2020. PMID: 32792851 Free PMC article. Review.
SARS-CoV-2 Proteins Induce Endotoxin Tolerance Hallmarks: A Demonstration in Patients with COVID-19.
Avendaño-Ortiz J, Lozano-Rodríguez R, Martín-Quirós A, Maroun-Eid C, Terrón-Arcos V, Montalbán-Hernández K, Valentín J, Muñoz Del Val E, García-Garrido MA, Del Balzo-Castillo Á, Casalvilla-Dueñas JC, Peinado M, Gómez L, Herrero-Benito C, Rubio C, Cubillos-Zapata C, Pascual-Iglesias A, Del Fresno C, Aguirre LA, López-Collazo E. Avendaño-Ortiz J, et al. Among authors: aguirre la. J Immunol. 2021 Jul 1;207(1):162-174. doi: 10.4049/jimmunol.2001449. Epub 2021 Jun 28. J Immunol. 2021. PMID: 34183364
79 results