1 | CLDN14, DFNB29
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| Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
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| Bashir ZE, Latief N, Belyantseva IA, Iqbal F, Riazuddin SA, Khan SN, Friedman TB, Riazuddin S, Riazuddin S.
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| J Hum Genet 58(2):102-8. doi: 10.1038/jhg.2012.143. Epub 2012 Dec 13. Erratum in: J Hum Genet. 2013 Sep;58(9):641. Amer Riazuddin, Sheikh [c 2013
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2 | CLDN14, DFNB29
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| Mutations in CLDN14 are associated with different hearing thresholds.
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| Bashir R, Fatima A, Naz S.
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| J Hum Genet 55(11):767-70. Epub 2010 Sep 2.
2010
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3 | CLDN14, DFNB29
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| Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
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| Wattenhofer M, Reymond A, Falciola V, Charollais A, Caille D, Borel C, Lyle R, Estivill X, Petersen MB, Meda P, Antonarakis SE.
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| Hum Mutat 25(6):543-9. 2005
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4 | CLDN14, DFNB29
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| Palmitoylation of claudins is required for efficient tight-junction localization.
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| Van Itallie CM, Gambling TM, Carson JL, Anderson JM.
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| J Cell Sci 118(Pt 7):1427-36. Epub 2005 Mar 15. 2005
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5 | CLDN14, DFNB29
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| Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
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| Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Riazuddin S, Friedman TB.
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| Cell 104(1):165-72. 2001
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