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Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway.
Fetoni AR, Zorzi V, Paciello F, Ziraldo G, Peres C, Raspa M, Scavizzi F, Salvatore AM, Crispino G, Tognola G, Gentile G, Spampinato AG, Cuccaro D, Guarnaccia M, Morello G, Van Camp G, Fransen E, Brumat M, Girotto G, Paludetti G, Gasparini P, Cavallaro S, Mammano F. Fetoni AR, et al. Among authors: gasparini p. Redox Biol. 2018 Oct;19:301-317. doi: 10.1016/j.redox.2018.08.002. Epub 2018 Aug 7. Redox Biol. 2018. PMID: 30199819 Free PMC article.
Are MYO1C and MYO1F associated with hearing loss?
Zadro C, Alemanno MS, Bellacchio E, Ficarella R, Donaudy F, Melchionda S, Zelante L, Rabionet R, Hilgert N, Estivill X, Van Camp G, Gasparini P, Carella M. Zadro C, et al. Among authors: gasparini p. Biochim Biophys Acta. 2009 Jan;1792(1):27-32. doi: 10.1016/j.bbadis.2008.10.017. Epub 2008 Nov 5. Biochim Biophys Acta. 2009. PMID: 19027848 Free article.
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways.
Girotto G, Pirastu N, Sorice R, Biino G, Campbell H, d'Adamo AP, Hastie ND, Nutile T, Polasek O, Portas L, Rudan I, Ulivi S, Zemunik T, Wright AF, Ciullo M, Hayward C, Pirastu M, Gasparini P. Girotto G, et al. Among authors: gasparini p. J Med Genet. 2011 Jun;48(6):369-74. doi: 10.1136/jmg.2010.088310. Epub 2011 Apr 14. J Med Genet. 2011. PMID: 21493956
Consanguinity and hereditary hearing loss in Qatar.
Girotto G, Mezzavilla M, Abdulhadi K, Vuckovic D, Vozzi D, Khalifa Alkowari M, Gasparini P, Badii R. Girotto G, et al. Among authors: gasparini p. Hum Hered. 2014;77(1-4):175-82. doi: 10.1159/000360475. Epub 2014 Jul 29. Hum Hered. 2014. PMID: 25060281 Review.
The p.Cys169Tyr variant of connexin 26 is not a polymorphism.
Zonta F, Girotto G, Buratto D, Crispino G, Morgan A, Abdulhadi K, Alkowari M, Badii R, Gasparini P, Mammano F. Zonta F, et al. Among authors: gasparini p. Hum Mol Genet. 2015 May 1;24(9):2641-8. doi: 10.1093/hmg/ddv026. Epub 2015 Jan 26. Hum Mol Genet. 2015. PMID: 25628337 Free PMC article.
610 results