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14 results

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Page 1
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.
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. 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.
Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39.
Morell RJ, Olszewski R, Tona R, Leitess S, Wafa TT, Taukulis I, Schultz JM, Thomason EJ, Richards K, Whitley BN, Hill C, Saunders T, Starost MF, Fitzgerald T, Wilson E, Ohyama T, Friedman TB, Hoa M. Morell RJ, et al. J Neurosci. 2020 Apr 8;40(15):2976-2992. doi: 10.1523/JNEUROSCI.2278-19.2020. Epub 2020 Mar 9. J Neurosci. 2020. PMID: 32152201 Free PMC article.
Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.
Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJ, Kohrman DC. Odeh H, et al. Am J Hum Genet. 2010 Feb 12;86(2):148-60. doi: 10.1016/j.ajhg.2010.01.016. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137774 Free PMC article.
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.
Kitajiri S, Sakamoto T, Belyantseva IA, Goodyear RJ, Stepanyan R, Fujiwara I, Bird JE, Riazuddin S, Riazuddin S, Ahmed ZM, Hinshaw JE, Sellers J, Bartles JR, Hammer JA 3rd, Richardson GP, Griffith AJ, Frolenkov GI, Friedman TB. Kitajiri S, et al. Cell. 2010 May 28;141(5):786-98. doi: 10.1016/j.cell.2010.03.049. Cell. 2010. PMID: 20510926 Free PMC article.
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