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Conference Paper: Understanding the molecular pathogenesis of SOX9 Y440X campomelic dysplasia

TitleUnderstanding the molecular pathogenesis of SOX9 Y440X campomelic dysplasia
Authors
Issue Date2010
Citation
The 2010 Academic Symposium on Developmental Studies in Health and Diseases, The Chinese University of Hong Kong, Hong Kong, 18-21 October 2010. How to Cite?
AbstractHuman SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia (CD). Complete inactivation of the Sox9 gene in mice results in failure of cartilage formation. Studies in zebrafish and Xenopus suggest that Sox9 may be crucial for specification of the otic placode. In mice, loss of Sox9 results in failure of otic placode invagination. Heterozygous mutations in human SOX9 result in conductive and sensorineural deafness in some CD patients, implying a later morphogenetic role but phenotypic details are limited. Sox9-/- null mice die before morphogenesis of the inner ear is complete, precluding investigation of the role of Sox9 later in ear develop...
Persistent Identifierhttp://hdl.handle.net/10722/140080

 

DC FieldValueLanguage
dc.contributor.authorCheah, KSEen_US
dc.contributor.authorAu, Ten_US
dc.contributor.authorSzeto, IYYen_US
dc.contributor.authorWynn, Sen_US
dc.contributor.authorChan, YSen_US
dc.contributor.authorCheung, Ken_US
dc.contributor.authorChan, WYen_US
dc.contributor.authorLovell-Badge, Ren_US
dc.contributor.authorChan, Den_US
dc.contributor.authorFritzsch, Ben_US
dc.date.accessioned2011-09-23T06:06:24Z-
dc.date.available2011-09-23T06:06:24Z-
dc.date.issued2010en_US
dc.identifier.citationThe 2010 Academic Symposium on Developmental Studies in Health and Diseases, The Chinese University of Hong Kong, Hong Kong, 18-21 October 2010.en_US
dc.identifier.urihttp://hdl.handle.net/10722/140080-
dc.description.abstractHuman SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia (CD). Complete inactivation of the Sox9 gene in mice results in failure of cartilage formation. Studies in zebrafish and Xenopus suggest that Sox9 may be crucial for specification of the otic placode. In mice, loss of Sox9 results in failure of otic placode invagination. Heterozygous mutations in human SOX9 result in conductive and sensorineural deafness in some CD patients, implying a later morphogenetic role but phenotypic details are limited. Sox9-/- null mice die before morphogenesis of the inner ear is complete, precluding investigation of the role of Sox9 later in ear develop...-
dc.languageengen_US
dc.relation.ispartofAcademic Symposium on Developmental Studies in Health and Diseases 2010en_US
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleUnderstanding the molecular pathogenesis of SOX9 Y440X campomelic dysplasiaen_US
dc.typeConference_Paperen_US
dc.identifier.emailCheah, KSE: hrmbdkc@hku.hken_US
dc.identifier.emailAu, T: tiffany_au@hku.hken_US
dc.identifier.emailSzeto, IYY: yyszeto@hkucc.hku.hken_US
dc.identifier.emailChan, YS: yschan@hku.hken_US
dc.identifier.emailCheung, K: cheungmc@hku.hken_US
dc.identifier.emailChan, WY: torichan@hku.hken_US
dc.identifier.emailLovell-Badge, R: rlovell@hku.hken_US
dc.identifier.emailChan, D: chand@hku.hken_US
dc.identifier.authorityCheah, KSE=rp00342en_US
dc.identifier.authorityChan, YS=rp00318en_US
dc.identifier.authorityCheung, K=rp00387en_US
dc.description.naturepostprint-
dc.identifier.hkuros192712en_US

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