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Article: Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing

TitlePatient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing
Authors
Issue Date2013
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 2013, v. 22 n. 7, p. 1395-1403 How to Cite?
AbstractIn this paper, we report a novel heterozygous mutation of A285V codon conversion on exon 4 of the desmin (DES), using whole exome sequencing (WES) in an isolated proband with documented dilated cardiomyopathy (DCM). This mutation is predicted to cause three-dimensional structure changes of DES. Immunohistological and electron microscopy studies demonstrated diffuse abnormal DES aggregations in DCM-induced-pluripotent stem cell (iPSC)-derived cardiomyocytes, and control-iPSC-derived cardiomyocytes transduced with A285V-DES. DCM-iPSC-derived cardiomyocytes also exhibited functional abnormalities in vitro. This is the first demonstration that patient-specific iPSC-derived cardiomyocytes can be used to provide histological and functional confirmation of a suspected genetic basis for DCM identified by WES.
Persistent Identifierhttp://hdl.handle.net/10722/186021
ISSN
2017 Impact Factor: 4.902
2015 SCImago Journal Rankings: 4.288
ISI Accession Number ID
Errata

 

DC FieldValueLanguage
dc.contributor.authorTse, HF-
dc.contributor.authorHo, JCY-
dc.contributor.authorChoi, SW-
dc.contributor.authorLee, YK-
dc.contributor.authorButler, AW-
dc.contributor.authorNg, KM-
dc.contributor.authorSiu, CW-
dc.contributor.authorSimpson, MA-
dc.contributor.authorLai, WH-
dc.contributor.authorChan, YC-
dc.contributor.authorAu, KW-
dc.contributor.authorZhang, J-
dc.contributor.authorLay, KWJ-
dc.contributor.authorEsteban, MA-
dc.contributor.authorNicholls, JM-
dc.contributor.authorColman, A-
dc.contributor.authorSham, PC-
dc.date.accessioned2013-08-20T11:50:03Z-
dc.date.available2013-08-20T11:50:03Z-
dc.date.issued2013-
dc.identifier.citationHuman Molecular Genetics, 2013, v. 22 n. 7, p. 1395-1403-
dc.identifier.issn0964-6906-
dc.identifier.urihttp://hdl.handle.net/10722/186021-
dc.description.abstractIn this paper, we report a novel heterozygous mutation of A285V codon conversion on exon 4 of the desmin (DES), using whole exome sequencing (WES) in an isolated proband with documented dilated cardiomyopathy (DCM). This mutation is predicted to cause three-dimensional structure changes of DES. Immunohistological and electron microscopy studies demonstrated diffuse abnormal DES aggregations in DCM-induced-pluripotent stem cell (iPSC)-derived cardiomyocytes, and control-iPSC-derived cardiomyocytes transduced with A285V-DES. DCM-iPSC-derived cardiomyocytes also exhibited functional abnormalities in vitro. This is the first demonstration that patient-specific iPSC-derived cardiomyocytes can be used to provide histological and functional confirmation of a suspected genetic basis for DCM identified by WES.-
dc.languageeng-
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/-
dc.relation.ispartofHuman Molecular Genetics-
dc.titlePatient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing-
dc.typeArticle-
dc.identifier.emailTse, HF: hftse@hkucc.hku.hk-
dc.identifier.emailHo, JCY: jennyho@hku.hk-
dc.identifier.emailLee, YK: carol801@hku.hk-
dc.identifier.emailNg, KM: h9925586@graduate.hku.hk-
dc.identifier.emailSiu, CW: cwdsiu@hkucc.hku.hk-
dc.identifier.emailLai, WH: kwhlai@hku.hk-
dc.identifier.emailChan, YC: ycchan09@hku.hk-
dc.identifier.emailNicholls, JM: jmnichol@hkucc.hku.hk-
dc.identifier.emailSham, PC: pcsham@hku.hk-
dc.identifier.authorityTse, HF=rp00428-
dc.identifier.authorityLee, YK=rp02636-
dc.identifier.authorityNg, KM=rp01670-
dc.identifier.authoritySiu, CW=rp00534-
dc.identifier.authorityChan, YC=rp01502-
dc.identifier.authorityNicholls, JM=rp00364-
dc.identifier.authoritySham, PC=rp00459-
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1093/hmg/dds556-
dc.identifier.pmid23300193-
dc.identifier.scopuseid_2-s2.0-84875276852-
dc.identifier.hkuros218572-
dc.identifier.volume22-
dc.identifier.issue7-
dc.identifier.spage1395-
dc.identifier.epage1403-
dc.identifier.isiWOS:000316297000011-
dc.publisher.placeUnited Kingdom-
dc.relation.erratumdoi:10.1093/hmg/ddt653-
dc.relation.erratumeid:eid_2-s2.0-84897894187-

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