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Page 1
Actin at stereocilia tips is regulated by mechanotransduction and ADF/cofilin.
McGrath J, Tung CY, Liao X, Belyantseva IA, Roy P, Chakraborty O, Li J, Berbari NF, Faaborg-Andersen CC, Barzik M, Bird JE, Zhao B, Balakrishnan L, Friedman TB, Perrin BJ. McGrath J, et al. Curr Biol. 2021 Mar 22;31(6):1141-1153.e7. doi: 10.1016/j.cub.2020.12.006. Epub 2021 Jan 4. Curr Biol. 2021. PMID: 33400922 Free PMC article.
ANKRD24 organizes TRIOBP to reinforce stereocilia insertion points.
Krey JF, Liu C, Belyantseva IA, Bateschell M, Dumont RA, Goldsmith J, Chatterjee P, Morrill RS, Fedorov LM, Foster S, Kim J, Nuttall AL, Jones SM, Choi D, Friedman TB, Ricci AJ, Zhao B, Barr-Gillespie PG. Krey JF, et al. J Cell Biol. 2022 Apr 4;221(4):e202109134. doi: 10.1083/jcb.202109134. Epub 2022 Feb 17. J Cell Biol. 2022. PMID: 35175278 Free PMC article.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB. Faridi R, et al. Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. Epub 2023 Mar 13. Clin Genet. 2023. PMID: 36807241 Free PMC article.
Variants of human CLDN9 cause mild to profound hearing loss.
Ramzan M, Philippe C, Belyantseva IA, Nakano Y, Fenollar-Ferrer C, Tona R, Yousaf R, Basheer R, Imtiaz A, Faridi R, Munir Z, Idrees H, Salman M, Nambot S, Vitobello A, Kartti S, Zarrik O, Witmer PD, Sobreria N, Ibrahimi A, Banfi B, Moutton S, Friedman TB, Naz S. Ramzan M, et al. Hum Mutat. 2021 Oct;42(10):1321-1335. doi: 10.1002/humu.24260. Epub 2021 Aug 1. Hum Mutat. 2021. PMID: 34265170 Free PMC article.
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.
66 results