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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.
Reduced phosphatidylinositol 4,5-bisphosphate synthesis impairs inner ear Ca2+ signaling and high-frequency hearing acquisition.
Rodriguez L, Simeonato E, Scimemi P, Anselmi F, Calì B, Crispino G, Ciubotaru CD, Bortolozzi M, Ramirez FG, Majumder P, Arslan E, De Camilli P, Pozzan T, Mammano F. Rodriguez L, et al. Among authors: crispino g. Proc Natl Acad Sci U S A. 2012 Aug 28;109(35):14013-8. doi: 10.1073/pnas.1211869109. Epub 2012 Aug 13. Proc Natl Acad Sci U S A. 2012. PMID: 22891314 Free PMC article.
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.
ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear.
Anselmi F, Hernandez VH, Crispino G, Seydel A, Ortolano S, Roper SD, Kessaris N, Richardson W, Rickheit G, Filippov MA, Monyer H, Mammano F. Anselmi F, et al. Among authors: crispino g. Proc Natl Acad Sci U S A. 2008 Dec 2;105(48):18770-5. doi: 10.1073/pnas.0800793105. Epub 2008 Dec 1. Proc Natl Acad Sci U S A. 2008. PMID: 19047635 Free PMC article.
40 results