Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29

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• 作者：Edward R. Wilcox ; Quianna L. Burton ; Sadaf Naz ; Saima Riazuddin ; Tenesha N. Smith ; Barbara Ploplis ; Inna Belyantseva ; Tamar Ben-Yosef ; Nikki A. Liburd ; Robert J. Morell et al.
• 刊名：Cell
• 出版年：2001
• 出版时间：12 January 2001
• 年：2001
• 卷：104
• 期：1
• 页码：165-172
• 全文大小：1435 K

文摘

Tight junctions in the cochlear duct are thought to compartmentalize endolymph and provide structural support for the auditory neuroepithelium. The claudin family of genes is known to express protein components of tight junctions in other tissues. The essential function of one of these claudins in the inner ear was established by identifying mutations in CLDN14 that cause nonsyndromic recessive deafness DFNB29 in two large consanguineous Pakistani families. In situ hybridization and immunofluorescence studies demonstrated mouse claudin-14 expression in the sensory epithelium of the organ of Corti.