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Page 1
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
Ben Said M, Grati M, Ishimoto T, Zou B, Chakchouk I, Ma Q, Yao Q, Hammami B, Yan D, Mittal R, Nakamichi N, Ghorbel A, Neng L, Tekin M, Shi XR, Kato Y, Masmoudi S, Lu Z, Hmani M, Liu X. Ben Said M, et al. Hum Genet. 2016 May;135(5):513-524. doi: 10.1007/s00439-016-1657-7. Epub 2016 Mar 29. Hum Genet. 2016. PMID: 27023905 Free PMC article.
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. 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.
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.
Wang H, Wang X, He C, Li H, Qing J, Grati M, Hu Z, Li J, Hu Y, Xia K, Mei L, Wang X, Yu J, Chen H, Jiang L, Liu Y, Men M, Zhang H, Guan L, Xiao J, Zhang J, Liu X, Feng Y. Wang H, et al. J Hum Genet. 2015 Mar;60(3):119-126. doi: 10.1038/jhg.2014.114. Epub 2015 Jan 15. J Hum Genet. 2015. PMID: 25589040 Free PMC article.
Next-generation sequencing in genetic hearing loss.
Yan D, Tekin M, Blanton SH, Liu XZ. Yan D, et al. Genet Test Mol Biomarkers. 2013 Aug;17(8):581-7. doi: 10.1089/gtmb.2012.0464. Epub 2013 Jun 5. Genet Test Mol Biomarkers. 2013. PMID: 23738631 Free PMC article. Review.