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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: mammano f. 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: mammano f. 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.
A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.
Kuang Y, Zorzi V, Buratto D, Ziraldo G, Mazzarda F, Peres C, Nardin C, Salvatore AM, Chiani F, Scavizzi F, Raspa M, Qiang M, Chu Y, Shi X, Li Y, Liu L, Shi Y, Zonta F, Yang G, Lerner RA, Mammano F. Kuang Y, et al. Among authors: mammano f. EBioMedicine. 2020 Jul;57:102825. doi: 10.1016/j.ebiom.2020.102825. Epub 2020 Jun 15. EBioMedicine. 2020. PMID: 32553574 Free PMC article.
188 results