Associated Papers
The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.
Tlili A et al.
Genes, 2024
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.
Kitano T et al.
International Journal of Molecular Sciences, 2019
Genetic analysis of CLDN14 in the Chinese population affected with non-syndromic hearing loss.
Lu Y et al.
International Journal of Pediatric Otorhinolaryngology, 2018
The role of claudin in hypercalciuric nephrolithiasis.
Hou J
Current Urology Reports, 2013
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
Bashir ZE et al.
Journal of Human Genetics, 2013
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
Lee K et al.
American Journal of Medical Genetics. Part A, 2012
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 2011
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
Thorleifsson G et al.
Nature Genetics, 2009
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
Wattenhofer M et al.
Human Mutation, 2005
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
Wilcox ER et al.
Cell, 2001
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