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Cited by 444

The DOI matches its Crossref record; 48 of the 48 references it cites were found in a registry or an index.

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

Open access
Wilcox, Edward R, Burton, Quianna L, Naz, Sadaf, Riazuddin, Saima, Smith, Tenesha N, Ploplis, Barbara, Belyantseva, Inna, Ben-Yosef, Tamar, Liburd, Nikki A, Morell, Robert J, Kachar, Bechara, Wu, Doris K, Griffith, Andrew J, Riazuddin, Sheikh, Friedman, Thomas B·2001·Cell
DOI 10.1016/s0092-8674(01)00200-8
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Abstract

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.

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Metadata

Authors
Wilcox, E. R., Burton, Q. L., Naz, S., Riazuddin, S., Smith, T. N., Ploplis, B., Belyantseva, I., Ben-Yosef, T., Liburd, N. A., Morell, R. J., Kachar, B., Wu, D. K., Griffith, A. J., Riazuddin, S., & Friedman, T. B.
Venue
Cell
Publisher
Elsevier BV
Published
2001-01
Volume
104
Issue
1
Pages
165-172
ISSN
0092-8674 (ISSN-L)
DOI
10.1016/s0092-8674(01)00200-8
OpenAlex
W2018626472
Cited by
444
References
48
FWCI
12.80
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29. https://app.cochat.ai/papers/10.1016/s0092-8674(01)00200-8
The paper
Wilcox, E. R., Burton, Q. L., Naz, S., Riazuddin, S., Smith, T. N., Ploplis, B., Belyantseva, I., Ben-Yosef, T., Liburd, N. A., Morell, R. J., Kachar, B., Wu, D. K., Griffith, A. J., Riazuddin, S., & Friedman, T. B. (2001). Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29. Cell. https://doi.org/10.1016/s0092-8674(01)00200-8

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.