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Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El Mestikawy S, Moser T, Smith RJ, Lesperance MM, Puel JL. Ruel J, et al. Among authors: sivakumaran ta. Am J Hum Genet. 2008 Aug;83(2):278-92. doi: 10.1016/j.ajhg.2008.07.008. Am J Hum Genet. 2008. PMID: 18674745 Free PMC article.
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.
Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM. Bespalova IN, et al. Among authors: sivakumaran ta. Hum Mol Genet. 2001 Oct 15;10(22):2501-8. doi: 10.1093/hmg/10.22.2501. Hum Mol Genet. 2001. PMID: 11709537 Free PMC article.
Conservation of the RB1 gene in human and primates.
Sivakumaran TA, Shen P, Wall DP, Do BH, Kucheria K, Oefner PJ. Sivakumaran TA, et al. Hum Mutat. 2005 Apr;25(4):396-409. doi: 10.1002/humu.20154. Hum Mutat. 2005. PMID: 15776430
45 results