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A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.
Lezirovitz K, Vieira-Silva GA, Batissoco AC, Levy D, Kitajima JP, Trouillet A, Ouyang E, Zebarjadi N, Sampaio-Silva J, Pedroso-Campos V, Nascimento LR, Sonoda CY, Borges VM, Vasconcelos LG, Beck RMO, Grasel SS, Jagger DJ, Grillet N, Bento RF, Mingroni-Netto RC, Oiticica J. Lezirovitz K, et al. Among authors: grillet n. Hum Mol Genet. 2020 Jun 3;29(9):1520-1536. doi: 10.1093/hmg/ddaa075. Hum Mol Genet. 2020. PMID: 32337552 Free PMC article.
Loxhd1 Mutations Cause Mechanotransduction Defects in Cochlear Hair Cells.
Trouillet A, Miller KK, George SS, Wang P, Ali NE, Ricci A, Grillet N. Trouillet A, et al. Among authors: grillet n. J Neurosci. 2021 Apr 14;41(15):3331-3343. doi: 10.1523/JNEUROSCI.0975-20.2021. Epub 2021 Mar 11. J Neurosci. 2021. PMID: 33707295 Free PMC article.
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Müller U. Grillet N, et al. Am J Hum Genet. 2009 Sep;85(3):328-37. doi: 10.1016/j.ajhg.2009.07.017. Am J Hum Genet. 2009. PMID: 19732867 Free PMC article.
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Borck G, et al. Among authors: grillet n. Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255762 Free PMC article.
Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1.
Deng Q, Natesan R, Cidre-Aranaz F, Arif S, Liu Y, Rasool RU, Wang P, Mitchell-Velasquez E, Das CK, Vinca E, Cramer Z, Grohar PJ, Chou M, Kumar-Sinha C, Weber K, Eisinger-Mathason TSK, Grillet N, Grünewald TGP, Asangani IA. Deng Q, et al. Among authors: grillet n. Cell Rep. 2022 Jun 14;39(11):110971. doi: 10.1016/j.celrep.2022.110971. Cell Rep. 2022. PMID: 35705030 Free PMC article.
Osmotic stabilization prevents cochlear synaptopathy after blast trauma.
Kim J, Xia A, Grillet N, Applegate BE, Oghalai JS. Kim J, et al. Among authors: grillet n. Proc Natl Acad Sci U S A. 2018 May 22;115(21):E4853-E4860. doi: 10.1073/pnas.1720121115. Epub 2018 May 7. Proc Natl Acad Sci U S A. 2018. PMID: 29735658 Free PMC article.
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