Citations for
1CLDN14, DFNB29
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
Bashir ZE, Latief N, Belyantseva IA, Iqbal F, Riazuddin SA, Khan SN, Friedman TB, Riazuddin S, Riazuddin S.
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
2CLDN14, DFNB29
Mutations in CLDN14 are associated with different hearing thresholds.
Bashir R, Fatima A, Naz S.
J Hum Genet 55(11):767-70. Epub 2010 Sep 2. 2010
3CLDN14, DFNB29
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
Wattenhofer M, Reymond A, Falciola V, Charollais A, Caille D, Borel C, Lyle R, Estivill X, Petersen MB, Meda P, Antonarakis SE.
Hum Mutat 25(6):543-9. 2005
4CLDN14, DFNB29
Palmitoylation of claudins is required for efficient tight-junction localization.
Van Itallie CM, Gambling TM, Carson JL, Anderson JM.
J Cell Sci 118(Pt 7):1427-36. Epub 2005 Mar 15. 2005
5CLDN14, DFNB29
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
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.
Cell 104(1):165-72. 2001