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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: crispino g. 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.
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.
Schütz M, Scimemi P, Majumder P, De Siati RD, Crispino G, Rodriguez L, Bortolozzi M, Santarelli R, Seydel A, Sonntag S, Ingham N, Steel KP, Willecke K, Mammano F. Schütz M, et al. Among authors: crispino g. Hum Mol Genet. 2010 Dec 15;19(24):4759-73. doi: 10.1093/hmg/ddq402. Epub 2010 Sep 21. Hum Mol Genet. 2010. PMID: 20858605 Free PMC article.
Design and Characterization of a Human Monoclonal Antibody that Modulates Mutant Connexin 26 Hemichannels Implicated in Deafness and Skin Disorders.
Xu L, Carrer A, Zonta F, Qu Z, Ma P, Li S, Ceriani F, Buratto D, Crispino G, Zorzi V, Ziraldo G, Bruno F, Nardin C, Peres C, Mazzarda F, Salvatore AM, Raspa M, Scavizzi F, Chu Y, Xie S, Yang X, Liao J, Liu X, Wang W, Wang S, Yang G, Lerner RA, Mammano F. Xu L, et al. Among authors: crispino g. Front Mol Neurosci. 2017 Sep 22;10:298. doi: 10.3389/fnmol.2017.00298. eCollection 2017. Front Mol Neurosci. 2017. PMID: 29018324 Free PMC article.
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: crispino g. 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.
40 results