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Article: Hearing loss: Frequency and functional studies of the most common connexin26 alleles

TitleHearing loss: Frequency and functional studies of the most common connexin26 alleles
Authors
KeywordsConnexin26
Genetic deafness
Mutations
Issue Date2002
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/wps/find/journaldescription.cws_home/622790/description
Citation
Biochemical And Biophysical Research Communications, 2002, v. 296 n. 3, p. 685-691 How to Cite?
AbstractMutations in the GJB2 gene, encoding the gap-junction channel protein connexin 26, account for the majority of recessive forms and some of the dominant cases of deafness. Here, we report the frequency of GJB2 alleles in the Italian population affected by hearing loss and the functional analysis of six missense mutations. Genetic studies indicate that, apart from the common 35delG, only few additional mutations can be detected with a significant frequency in our population. Transfection of communication-incompetent HeLa cells with Cx26 missense mutations revealed three distinct classes of functional deficits in terms of protein expression, subcellular localisation and/or functional activity. Moreover, the M34T mutant acted as a dominant inhibitor of wild-type Cx26 channel activity when the two proteins were co-expressed in a manner mimicking a heterozygous genotype. These data support the hypothesis of a functional role for M34T as a dominant allele and represent a further step towards a complete understanding of the role of GJB2 in causing hearing loss. © 2002 Elsevier Science (USA). All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/132709
ISSN
2015 Impact Factor: 2.371
2015 SCImago Journal Rankings: 1.152
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorD'Andrea, Pen_HK
dc.contributor.authorVeronesi, Ven_HK
dc.contributor.authorBicego, Men_HK
dc.contributor.authorMelchionda, Sen_HK
dc.contributor.authorZelante, Len_HK
dc.contributor.authorDi Iorio, Een_HK
dc.contributor.authorBruzzone, Ren_HK
dc.contributor.authorGasparini, Pen_HK
dc.date.accessioned2011-03-28T09:28:26Z-
dc.date.available2011-03-28T09:28:26Z-
dc.date.issued2002en_HK
dc.identifier.citationBiochemical And Biophysical Research Communications, 2002, v. 296 n. 3, p. 685-691en_HK
dc.identifier.issn0006-291Xen_HK
dc.identifier.urihttp://hdl.handle.net/10722/132709-
dc.description.abstractMutations in the GJB2 gene, encoding the gap-junction channel protein connexin 26, account for the majority of recessive forms and some of the dominant cases of deafness. Here, we report the frequency of GJB2 alleles in the Italian population affected by hearing loss and the functional analysis of six missense mutations. Genetic studies indicate that, apart from the common 35delG, only few additional mutations can be detected with a significant frequency in our population. Transfection of communication-incompetent HeLa cells with Cx26 missense mutations revealed three distinct classes of functional deficits in terms of protein expression, subcellular localisation and/or functional activity. Moreover, the M34T mutant acted as a dominant inhibitor of wild-type Cx26 channel activity when the two proteins were co-expressed in a manner mimicking a heterozygous genotype. These data support the hypothesis of a functional role for M34T as a dominant allele and represent a further step towards a complete understanding of the role of GJB2 in causing hearing loss. © 2002 Elsevier Science (USA). All rights reserved.en_HK
dc.languageengen_US
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/wps/find/journaldescription.cws_home/622790/descriptionen_HK
dc.relation.ispartofBiochemical and Biophysical Research Communicationsen_HK
dc.subjectConnexin26en_HK
dc.subjectGenetic deafnessen_HK
dc.subjectMutationsen_HK
dc.titleHearing loss: Frequency and functional studies of the most common connexin26 allelesen_HK
dc.typeArticleen_HK
dc.identifier.emailBruzzone, R: bruzzone@hkucc.hku.hken_HK
dc.identifier.authorityBruzzone, R=rp01442en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/S0006-291X(02)00891-4en_HK
dc.identifier.pmid12176036-
dc.identifier.scopuseid_2-s2.0-0036384216en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0036384216&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume296en_HK
dc.identifier.issue3en_HK
dc.identifier.spage685en_HK
dc.identifier.epage691en_HK
dc.identifier.isiWOS:000177747800027-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridD'Andrea, P=7005979859en_HK
dc.identifier.scopusauthoridVeronesi, V=6701534503en_HK
dc.identifier.scopusauthoridBicego, M=7004711890en_HK
dc.identifier.scopusauthoridMelchionda, S=6603966689en_HK
dc.identifier.scopusauthoridZelante, L=7006328415en_HK
dc.identifier.scopusauthoridDi Iorio, E=8681862900en_HK
dc.identifier.scopusauthoridBruzzone, R=7006793327en_HK
dc.identifier.scopusauthoridGasparini, P=22634397400en_HK

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