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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. 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.
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
Rehman AU, Bird JE, Faridi R, Shahzad M, Shah S, Lee K, Khan SN, Imtiaz A, Ahmed ZM, Riazuddin S, Santos-Cortez RL, Ahmad W, Leal SM, Riazuddin S, Friedman TB. Rehman AU, et al. Hum Mutat. 2016 Oct;37(10):991-1003. doi: 10.1002/humu.23042. Epub 2016 Aug 21. Hum Mutat. 2016. PMID: 27375115 Free PMC article.
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
Faridi R, Rehman AU, Morell RJ, Friedman PL, Demain L, Zahra S, Khan AA, Tohlob D, Assir MZ, Beaman G, Khan SN, Newman WG, Riazuddin S, Friedman TB. Faridi R, et al. Among authors: rehman au. Clin Genet. 2017 Feb;91(2):328-332. doi: 10.1111/cge.12867. Epub 2016 Nov 16. Clin Genet. 2017. PMID: 27629923 Free PMC article.
Genetic causes of moderate to severe hearing loss point to modifiers.
Naz S, Imtiaz A, Mujtaba G, Maqsood A, Bashir R, Bukhari I, Khan MR, Ramzan M, Fatima A, Rehman AU, Iqbal M, Chaudhry T, Lund M, Brewer CC, Morell RJ, Friedman TB. Naz S, et al. Among authors: rehman au. Clin Genet. 2017 Apr;91(4):589-598. doi: 10.1111/cge.12856. Epub 2016 Oct 6. Clin Genet. 2017. PMID: 27573290 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: rehman au. 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.
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Imtiaz A, Belyantseva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bukhari I, Bouzid A, Shaukat U, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, Hoa M, Dong L, Morell RJ, Smith RJH, Riazuddin S, Masmoudi S, Kindt KS, Naz S, Friedman TB. Imtiaz A, et al. Among authors: rehman au. Hum Mol Genet. 2018 Mar 1;27(5):780-798. doi: 10.1093/hmg/ddx440. Hum Mol Genet. 2018. PMID: 29293958 Free PMC article.
615 results