Linked Life Data

17365058

Source:http://linkedlifedata.com/resource/pubmed/id/17365058

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-3-16
pubmed:abstractText
This review explores the association between GJB2 gene mutations, encoding connexin 26 (Cx26), and nonsyndromic hearing loss. Connexins are proteins that form intracellular membrane channels and regulate ion movement between contiguous fluid spaces. A family of autosomal gene mutations has been identified that lead to abnormal connexin expression within the inner ear that are associated with hearing loss. The exact mechanism by which this link is elicited remains unclear. We aim to highlight the clinically underestimated prevalence of GJB2 gene mutations, to explore the influential role of ethnic diversity in mutation frequency, and to provide a framework for hearing specialists in considering the differential diagnosis of nonsyndromic hearing loss. By linking an observed phenotype associated with abnormal Cx26 expression to the current understanding of the biological and genetic basis underlying it will allow a more accurate clinical description of associated hearing loss, and therefore enable more effective patient management and genetic counselling.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1499-2027
pubmed:author
pubmed:issnType
Print
pubmed:volume
46
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
75-81
pubmed:dateRevised
2007-7-26
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Connexin 26 mutations in autosomal recessive deafness disorders: a review.
pubmed:affiliation
School of Speech Pathology and Audiology, Faculty of Health Sciences, Flinders University, Adelaide, Australia.
pubmed:publicationType
Journal Article, Review