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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: friderici kh. 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 in hair cells and hearing loss.
Drummond MC, Belyantseva IA, Friderici KH, Friedman TB. Drummond MC, et al. Among authors: friderici kh. 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.
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
Rendtorff ND, Zhu M, Fagerheim T, Antal TL, Jones M, Teslovich TM, Gillanders EM, Barmada M, Teig E, Trent JM, Friderici KH, Stephan DA, Tranebjaerg L. Rendtorff ND, et al. Among authors: friderici kh. Eur J Hum Genet. 2006 Oct;14(10):1097-105. doi: 10.1038/sj.ejhg.5201670. Epub 2006 Jun 14. Eur J Hum Genet. 2006. PMID: 16773128
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJ, Shendure J, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Hinnant J, Khan SN, Fisher RA, Ahmad W, Friderici KH, Riazuddin S, Friedman TB, Wilch ES, Leal SM. Rehman AU, et al. Among authors: friderici kh. Eur J Hum Genet. 2015 Sep;23(9):1207-15. doi: 10.1038/ejhg.2014.266. Epub 2014 Dec 10. Eur J Hum Genet. 2015. PMID: 25491636 Free PMC article.
Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.
Bryan KE, Wen KK, Zhu M, Rendtorff ND, Feldkamp M, Tranebjaerg L, Friderici KH, Rubenstein PA. Bryan KE, et al. Among authors: friderici kh. J Biol Chem. 2006 Jul 21;281(29):20129-39. doi: 10.1074/jbc.M601514200. Epub 2006 May 10. J Biol Chem. 2006. PMID: 16690605 Free article.
74 results