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Page 1
Usher syndrome: hearing loss with vision loss.
Friedman TB, Schultz JM, Ahmed ZM, Tsilou ET, Brewer CC. Friedman TB, et al. Adv Otorhinolaryngol. 2011;70:56-65. doi: 10.1159/000322473. Epub 2011 Feb 24. Adv Otorhinolaryngol. 2011. PMID: 21358186 Review.
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, MacDonald IM, Riazuddin S, Sieving PA, Katsanis N, Hejtmancik JF. Riazuddin SA, et al. Am J Hum Genet. 2010 Oct 8;87(4):523-31. doi: 10.1016/j.ajhg.2010.08.013. Epub 2010 Sep 16. Am J Hum Genet. 2010. PMID: 20850105 Free PMC article.
CD44 is a marker for the outer pillar cells in the early postnatal mouse inner ear.
Hertzano R, Puligilla C, Chan SL, Timothy C, Depireux DA, Ahmed Z, Wolf J, Eisenman DJ, Friedman TB, Riazuddin S, Kelley MW, Strome SE. Hertzano R, et al. J Assoc Res Otolaryngol. 2010 Sep;11(3):407-18. doi: 10.1007/s10162-010-0211-x. Epub 2010 Apr 13. J Assoc Res Otolaryngol. 2010. PMID: 20386946 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.
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM. Riazuddin S, et al. Nat Genet. 2012 Nov;44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30. Nat Genet. 2012. PMID: 23023331 Free PMC article.
14 results