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Actin in hair cells and hearing loss.
Drummond MC, Belyantseva IA, Friderici KH, Friedman TB. Drummond MC, et al. 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.
Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.
Isgrig K, Shteamer JW, Belyantseva IA, Drummond MC, Fitzgerald TS, Vijayakumar S, Jones SM, Griffith AJ, Friedman TB, Cunningham LL, Chien WW. Isgrig K, et al. Among authors: drummond mc. Mol Ther. 2017 Mar 1;25(3):780-791. doi: 10.1016/j.ymthe.2017.01.007. Epub 2017 Feb 21. Mol Ther. 2017. PMID: 28254438 Free PMC article.
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: drummond mc. 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.
Harnessing molecular motors for nanoscale pulldown in live cells.
Bird JE, Barzik M, Drummond MC, Sutton DC, Goodman SM, Morozko EL, Cole SM, Boukhvalova AK, Skidmore J, Syam D, Wilson EA, Fitzgerald T, Rehman AU, Martin DM, Boger ET, Belyantseva IA, Friedman TB. Bird JE, et al. Among authors: drummond mc. Mol Biol Cell. 2017 Feb 1;28(3):463-475. doi: 10.1091/mbc.E16-08-0583. Epub 2016 Dec 8. Mol Biol Cell. 2017. PMID: 27932498 Free PMC article.
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI; University of Washington Center for Mendelian Genomics; Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB. Rehman AU, et al. Among authors: drummond mc. Am J Hum Genet. 2014 Jan 2;94(1):144-52. doi: 10.1016/j.ajhg.2013.12.004. Am J Hum Genet. 2014. PMID: 24387994 Free PMC article.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT; University of Washington Center for Mendelian Genomics; Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG. Jenkinson EM, et al. Among authors: drummond mc. Am J Hum Genet. 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541340 Free PMC article.
43 results