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14 results
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A "Tric" to tighten cell-cell junctions in the cochlea for hearing.
Higashi T, Lenz DR, Furuse M, Avraham KB. Higashi T, et al. Among authors: Lenz DR. J Clin Invest. 2013 Sep;123(9):3712-5. doi: 10.1172/JCI69651. Epub 2013 Aug 27. J Clin Invest. 2013. PMID: 23979155 Free PMC article.
The LINC complex is essential for hearing.
Horn HF, Brownstein Z, Lenz DR, Shivatzki S, Dror AA, Dagan-Rosenfeld O, Friedman LM, Roux KJ, Kozlov S, Jeang KT, Frydman M, Burke B, Stewart CL, Avraham KB. Horn HF, et al. Among authors: Lenz DR. J Clin Invest. 2013 Feb;123(2):740-50. doi: 10.1172/JCI66911. Epub 2013 Jan 25. J Clin Invest. 2013. PMID: 23348741 Free PMC article.
Hereditary hearing loss: from human mutation to mechanism.
Lenz DR, Avraham KB. Lenz DR, et al. Hear Res. 2011 Nov;281(1-2):3-10. doi: 10.1016/j.heares.2011.05.021. Epub 2011 Jun 6. Hear Res. 2011. PMID: 21664957 Review.
Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.
Parzefall T, Shivatzki S, Lenz DR, Rathkolb B, Ushakov K, Karfunkel D, Shapira Y, Wolf M, Mohr M, Wolf E, Sabrautzki S, de Angelis MH, Frydman M, Brownstein Z, Avraham KB. Parzefall T, et al. Among authors: Lenz DR. Hum Mutat. 2013 Aug;34(8):1102-10. doi: 10.1002/humu.22339. Epub 2013 May 8. Hum Mutat. 2013. PMID: 23606368 Free PMC article.
Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.
Dror AA, Politi Y, Shahin H, Lenz DR, Dossena S, Nofziger C, Fuchs H, Hrabé de Angelis M, Paulmichl M, Weiner S, Avraham KB. Dror AA, et al. J Biol Chem. 2010 Jul 9;285(28):21724-35. doi: 10.1074/jbc.M110.120188. Epub 2010 May 4. J Biol Chem. 2010. PMID: 20442411 Free PMC article.
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.
Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB. Walsh T, et al. Am J Hum Genet. 2010 Jul 9;87(1):101-9. doi: 10.1016/j.ajhg.2010.05.011. Epub 2010 Jun 17. Am J Hum Genet. 2010. PMID: 20602916 Free PMC article.
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