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Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome.
Mauriac SA, Hien YE, Bird JE, Carvalho SD, Peyroutou R, Lee SC, Moreau MM, Blanc JM, Geyser A, Medina C, Thoumine O, Beer-Hammer S, Friedman TB, Rüttiger L, Forge A, Nürnberg B, Sans N, Montcouquiol M. Mauriac SA, et al. Among authors: friedman tb. Nat Commun. 2017 Apr 7;8:14907. doi: 10.1038/ncomms14907. Nat Commun. 2017. PMID: 28387217 Free PMC article.
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.
Ben-Yosef T, Belyantseva IA, Saunders TL, Hughes ED, Kawamoto K, Van Itallie CM, Beyer LA, Halsey K, Gardner DJ, Wilcox ER, Rasmussen J, Anderson JM, Dolan DF, Forge A, Raphael Y, Camper SA, Friedman TB. Ben-Yosef T, et al. Among authors: friedman tb. Hum Mol Genet. 2003 Aug 15;12(16):2049-61. doi: 10.1093/hmg/ddg210. Hum Mol Genet. 2003. PMID: 12913076
Stereocilia: the long and the short of it.
Belyantseva IA, Labay V, Boger ET, Griffith AJ, Friedman TB. Belyantseva IA, et al. Among authors: friedman tb. Trends Mol Med. 2003 Nov;9(11):458-61. doi: 10.1016/j.molmed.2003.09.008. Trends Mol Med. 2003. PMID: 14604820
Tricellulin is a tight-junction protein necessary for hearing.
Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva IA, Forge A, Riazuddin S, Friedman TB. Riazuddin S, et al. Among authors: friedman tb, friedman pl. Am J Hum Genet. 2006 Dec;79(6):1040-51. doi: 10.1086/510022. Epub 2006 Oct 31. Am J Hum Genet. 2006. PMID: 17186462 Free PMC article.
Gamma-actin is required for cytoskeletal maintenance but not development.
Belyantseva IA, Perrin BJ, Sonnemann KJ, Zhu M, Stepanyan R, McGee J, Frolenkov GI, Walsh EJ, Friderici KH, Friedman TB, Ervasti JM. Belyantseva IA, et al. Among authors: friedman tb. Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9703-8. doi: 10.1073/pnas.0900221106. Epub 2009 Jun 3. Proc Natl Acad Sci U S A. 2009. PMID: 19497859 Free PMC article.
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.
Kitajiri S, Sakamoto T, Belyantseva IA, Goodyear RJ, Stepanyan R, Fujiwara I, Bird JE, Riazuddin S, Riazuddin S, Ahmed ZM, Hinshaw JE, Sellers J, Bartles JR, Hammer JA 3rd, Richardson GP, Griffith AJ, Frolenkov GI, Friedman TB. Kitajiri S, et al. Among authors: friedman tb. Cell. 2010 May 28;141(5):786-98. doi: 10.1016/j.cell.2010.03.049. Cell. 2010. PMID: 20510926 Free PMC article.
Actin in hair cells and hearing loss.
Drummond MC, Belyantseva IA, Friderici KH, Friedman TB. Drummond MC, et al. Among authors: friedman tb. Hear Res. 2012 Jun;288(1-2):89-99. doi: 10.1016/j.heares.2011.12.003. Epub 2011 Dec 13. Hear Res. 2012. PMID: 22200607 Free PMC article. Review.
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