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A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
Grati M, Chakchouk I, Ma Q, Bensaid M, Desmidt A, Turki N, Yan D, Baanannou A, Mittal R, Driss N, Blanton S, Farooq A, Lu Z, Liu XZ, Masmoudi S. Grati M, et al. Among authors: desmidt a. Hum Mol Genet. 2015 May 1;24(9):2482-91. doi: 10.1093/hmg/ddv009. Epub 2015 Jan 18. Hum Mol Genet. 2015. PMID: 25601850 Free PMC article.
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J 2nd, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, Walz K, Lu Z, Tekin M. Diaz-Horta O, et al. Among authors: desmidt a. Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9864-8. doi: 10.1073/pnas.1401950111. Epub 2014 Jun 23. Proc Natl Acad Sci U S A. 2014. PMID: 24958875 Free PMC article.
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Diaz-Horta O, Abad C, Sennaroglu L, Foster J 2nd, DeSmidt A, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Grati M, Fitoz S, Liu XZ, Farooq A, Imtiaz F, Currall BB, Morton CC, Nishita M, Minami Y, Lu Z, Walz K, Tekin M. Diaz-Horta O, et al. Among authors: desmidt a. Proc Natl Acad Sci U S A. 2016 May 24;113(21):5993-8. doi: 10.1073/pnas.1522512113. Epub 2016 May 9. Proc Natl Acad Sci U S A. 2016. PMID: 27162350 Free PMC article.
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
Yariz KO, Duman D, Zazo Seco C, Dallman J, Huang M, Peters TA, Sirmaci A, Lu N, Schraders M, Skromne I, Oostrik J, Diaz-Horta O, Young JI, Tokgoz-Yilmaz S, Konukseven O, Shahin H, Hetterschijt L, Kanaan M, Oonk AM, Edwards YJ, Li H, Atalay S, Blanton S, Desmidt AA, Liu XZ, Pennings RJ, Lu Z, Chen ZY, Kremer H, Tekin M. Yariz KO, et al. Among authors: desmidt aa. Am J Hum Genet. 2012 Nov 2;91(5):872-82. doi: 10.1016/j.ajhg.2012.09.011. Am J Hum Genet. 2012. PMID: 23122586 Free PMC article.
Early development of hearing in zebrafish.
Lu Z, DeSmidt AA. Lu Z, et al. Among authors: desmidt aa. J Assoc Res Otolaryngol. 2013 Aug;14(4):509-21. doi: 10.1007/s10162-013-0386-z. Epub 2013 Apr 11. J Assoc Res Otolaryngol. 2013. PMID: 23575600 Free PMC article.
The Generation of Zebrafish Mariner Model Using the CRISPR/Cas9 System.
Zou B, Desmidt AA, Mittal R, Yan D, Richmond M, Tekin M, Liu XZ, Lu Z. Zou B, et al. Among authors: desmidt aa. Anat Rec (Hoboken). 2020 Mar;303(3):556-562. doi: 10.1002/ar.24221. Epub 2019 Jul 18. Anat Rec (Hoboken). 2020. PMID: 31260171 Free article.
Spatiotemporal transitions in Pseudo-nitzschia species assemblages and domoic acid along the Alaska coast.
Hubbard KA, Villac MC, Chadwick C, DeSmidt AA, Flewelling L, Granholm A, Joseph M, Wood T, Fachon E, Brosnahan ML, Richlen M, Pathare M, Stockwell D, Lin P, Bouchard JN, Pickart R, Anderson DM. Hubbard KA, et al. Among authors: desmidt aa. PLoS One. 2023 Mar 22;18(3):e0282794. doi: 10.1371/journal.pone.0282794. eCollection 2023. PLoS One. 2023. PMID: 36947524 Free PMC article.
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