Journal article
The role of connexins in human disease
Ear and hearing, Vol.24(4), pp.314-323
08/2003
DOI: 10.1097/01.AUD.0000079801.55588.13
PMID: 12923422
Abstract
Connexins are the building blocks of gap junctions. In forming a gap junction, six connexins oligomerize to form a hexameric torus called a connexon. The number of gap junctions in a cell ranges from a few to over 105 and imparts to interconnected cells a uniform phenotype. The crucial role that gap junctions play in normal physiology is reflected by the diverse spectrum of human diseases in which allele variants of different gap junction genes are implicated. In particular, mutations in GJB2 are a major cause of autosomal recessive non-syndromic deafness. This discovery has impacted medical practice and makes it incumbent on clinicians to familiarize themselves with the genetic advances that are rapidly occurring in our field.
Details
- Title: Subtitle
- The role of connexins in human disease
- Creators
- Eugene H Chang - Molecular Otolaryngology Research Laboratories, Dept of Otolaryngology, University of Iowa, USAGuy Van CampRichard J H Smith
- Resource Type
- Journal article
- Publication Details
- Ear and hearing, Vol.24(4), pp.314-323
- DOI
- 10.1097/01.AUD.0000079801.55588.13
- PMID
- 12923422
- NLM abbreviation
- Ear Hear
- ISSN
- 0196-0202
- eISSN
- 1538-4667
- Publisher
- United States
- Grant note
- R01-DC02842 / NIDCD NIH HHS
- Language
- English
- Date published
- 08/2003
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006406802771
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