Literature DB >> 11163249

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

E R Wilcox1, Q L Burton, S Naz, S Riazuddin, T N Smith, B Ploplis, I Belyantseva, T Ben-Yosef, N A Liburd, R J Morell, B Kachar, D K Wu, A J Griffith, S Riazuddin, T B Friedman.   

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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Year:  2001        PMID: 11163249     DOI: 10.1016/s0092-8674(01)00200-8

Source DB:  PubMed          Journal:  Cell        ISSN: 0092-8674            Impact factor:   41.582


  148 in total

1.  Regulated expression of claudin-4 decreases paracellular conductance through a selective decrease in sodium permeability.

Authors:  C Van Itallie; C Rahner; J M Anderson
Journal:  J Clin Invest       Date:  2001-05       Impact factor: 14.808

2.  Paracellular ion channel at the tight junction.

Authors:  Vivian W Tang; Daniel A Goodenough
Journal:  Biophys J       Date:  2003-03       Impact factor: 4.033

3.  Expression, solubilization, and biochemical characterization of the tight junction transmembrane protein claudin-4.

Authors:  Laura L Mitic; Vinzenz M Unger; James Melvin Anderson
Journal:  Protein Sci       Date:  2003-02       Impact factor: 6.725

Review 4.  The organization of tight junctions in epithelia: implications for mammary gland biology and breast tumorigenesis.

Authors:  Masahiko Itoh; Mina J Bissell
Journal:  J Mammary Gland Biol Neoplasia       Date:  2003-10       Impact factor: 2.673

5.  Paracellular Cl- permeability is regulated by WNK4 kinase: insight into normal physiology and hypertension.

Authors:  Kristopher T Kahle; Gordon G Macgregor; Frederick H Wilson; Alfred N Van Hoek; Dennis Brown; Thomas Ardito; Michael Kashgarian; Gerhard Giebisch; Steven C Hebert; Emile L Boulpaep; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2004-10-01       Impact factor: 11.205

6.  The yin and yang of claudin-14 function in human diseases.

Authors:  Jianghui Hou
Journal:  Ann N Y Acad Sci       Date:  2012-07       Impact factor: 5.691

7.  Dynamic distribution of claudin proteins in pancreatic epithelia undergoing morphogenesis or neoplastic transformation.

Authors:  Joby J Westmoreland; Yiannis Drosos; Jacqueline Kelly; Jianming Ye; Anna L Means; M Kay Washington; Beatriz Sosa-Pineda
Journal:  Dev Dyn       Date:  2012-01-31       Impact factor: 3.780

8.  Claudin-1, -2, -3, -4, -5, and -7 in usual interstitial pneumonia and sarcoidosis.

Authors:  Riitta Kaarteenaho-Wiik; Ylermi Soini
Journal:  J Histochem Cytochem       Date:  2008-10-27       Impact factor: 2.479

9.  Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Authors:  Nadia A Akawi; Fuat E Canpolat; Susan M White; Josep Quilis-Esquerra; Martin Morales Sanchez; Maria José Gamundi; Ganeshwaran H Mochida; Christopher A Walsh; Bassam R Ali; Lihadh Al-Gazali
Journal:  Hum Mutat       Date:  2013-03       Impact factor: 4.878

10.  Double gene deletion reveals lack of cooperation between claudin 11 and claudin 14 tight junction proteins.

Authors:  Liron Elkouby-Naor; Zaid Abassi; Ayala Lagziel; Alexander Gow; Tamar Ben-Yosef
Journal:  Cell Tissue Res       Date:  2008-07-29       Impact factor: 5.249

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