Literature DB >> 21834795

Key functions for gap junctions in skin and hearing.

Claire A Scott1, David P Kelsell.   

Abstract

Cx (connexin) proteins are components of gap junctions which are aqueous pores that allow intercellular exchange of ions and small molecules. Mutations in Cx genes are linked to a range of human disorders. In the present review we discuss mutations in β-Cx genes encoding Cx26, Cx30, Cx30.3 and Cx31 which lead to skin disease and deafness. Functional studies with Cx proteins have given insights into disease-associated mechanisms and non-gap junctional roles for Cx proteins.

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Year:  2011        PMID: 21834795     DOI: 10.1042/BJ20110278

Source DB:  PubMed          Journal:  Biochem J        ISSN: 0264-6021            Impact factor:   3.857


  19 in total

1.  Chronic diseases and life events accounted for 2-18 % population attributable risks for adult hearing loss: UK Adult Psychiatric Morbidity Survey, 2007.

Authors:  Ivy Shiue
Journal:  Eur Arch Otorhinolaryngol       Date:  2015-01-10       Impact factor: 2.503

2.  The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.

Authors:  Eran Cohen-Barak; Lisa M Godsel; Jennifer L Koetsier; Marihan Hegazy; Daniella Kushnir-Grinbaum; Helwe Hammad; Nada Danial-Farran; Robert Harmon; Morad Khayat; Ron Bochner; Alon Peled; Mati Rozenblat; Judit Krausz; Ofer Sarig; Jodi L Johnson; Michael Ziv; Stavit A Shalev; Eli Sprecher; Kathleen J Green
Journal:  J Invest Dermatol       Date:  2019-08-26       Impact factor: 8.551

Review 3.  Defective channels lead to an impaired skin barrier.

Authors:  Diana C Blaydon; David P Kelsell
Journal:  J Cell Sci       Date:  2014-09-01       Impact factor: 5.285

4.  The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity.

Authors:  Pallavi V Mhaske; Noah A Levit; Leping Li; Hong-Zhan Wang; Jack R Lee; Zunaira Shuja; Peter R Brink; Thomas W White
Journal:  Am J Physiol Cell Physiol       Date:  2013-02-27       Impact factor: 4.249

5.  A connexin50 mutant, CX50fs, that causes cataracts is unstable, but is rescued by a proteasomal inhibitor.

Authors:  Peter J Minogue; Eric C Beyer; Viviana M Berthoud
Journal:  J Biol Chem       Date:  2013-05-17       Impact factor: 5.157

Review 6.  The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.

Authors:  Ji Xu; Bruce J Nicholson
Journal:  Biochim Biophys Acta       Date:  2012-07-13

7.  Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.

Authors:  Qing Shao; Qin Liu; Robert Lorentz; Xiang-Qun Gong; Donglin Bai; Gary S Shaw; Dale W Laird
Journal:  Mol Biol Cell       Date:  2012-07-18       Impact factor: 4.138

8.  USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.

Authors:  Thomas J Jaworek; Rashid Bhatti; Noreen Latief; Shaheen N Khan; Saima Riazuddin; Zubair M Ahmed
Journal:  J Hum Genet       Date:  2012-06-21       Impact factor: 3.172

9.  The 3.5 ångström X-ray structure of the human connexin26 gap junction channel is unlikely that of a fully open channel.

Authors:  Francesco Zonta; Guido Polles; Maria Federica Sanasi; Mario Bortolozzi; Fabio Mammano
Journal:  Cell Commun Signal       Date:  2013-02-27       Impact factor: 5.712

Review 10.  Manipulating connexin communication channels: use of peptidomimetics and the translational outputs.

Authors:  W Howard Evans; Geert Bultynck; Luc Leybaert
Journal:  J Membr Biol       Date:  2012-08-11       Impact factor: 1.843

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