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, DFNB1, GJB2, GJB3, GJB6
Mutation in gap and tight junctions in patients with non-syndromic hearing loss.
Belguith H, Tlili A, Dhouib H, Ben Rebeh I, Lahmar I, Charfeddine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S.
Biochem Biophys Res Commun 385(1):1-5. Epub 2009 Feb 28. 2009
4CLDN14, GJB2, GJB3, GJB6
Mutation in gap and tight junctions in patients with non-syndromic hearing loss.
Belguith H, Tlili A, Dhouib H, Ben Rebeh I, Lahmar I, Charfeddine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S.
Biochem Biophys Res Commun 385(1):1-5. Epub 2009 Feb 28.PMID: 19254696 2009
5CLDN14
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
Thorleifsson G, Holm H, Edvardsson V, Walters GB, Styrkarsdottir U, Gudbjartsson DF, Sulem P, Halldorsson BV, de Vegt F, d'Ancona FC, den Heijer M, Franzson L, Christiansen C, Alexandersen P, Rafnar T, Kristjansson K, Sigurdsson G, Kiemeney LA, Bodvarsson M, Indridason OS, Palsson R, Kong A, Thorsteinsdottir U, Stefansson K.
Nat Genet 41(8):926-30. Epub 2009 Jun 28.PMID: 19561606 2009
6CLDN14, 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
7CLDN14, 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
8CLDN1, CLDN12, CLDN14, CLDN18, CLDN2, CLDN3, CLDN6, CLDN8, CLDN9
Expression patterns of claudins, tight junction adhesion molecules, in the inner ear.
Kitajiri SI, Furuse M, Morita K, Saishin-Kiuchi Y, Kido H, Ito J, Tsukita S.
Hear Res 187(1-2):25-34.PMID: 14698084 2004
9CLDN1, CLDN10, CLDN11, CLDN12, CLDN14, CLDN15, CLDN16, CLDN17, CLDN18, CLDN19, CLDN2, CLDN20, CLDN21, CLDN22, CLDN3, CLDN4, CLDN5, CLDN6, CLDN7, CLDN8, CLDN9
Claudins create charge-selective channels in the paracellular pathway between epithelial cells.
Colegio OR, Van Itallie CM, McCrea HJ, Rahner C, Anderson JM.
Am J Physiol Cell Physiol 283(1):C142-7. 2002
10CLDN14, 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