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Perturbation of NCOA6 Leads to Dilated Cardiomyopathy

DC FieldValueLanguage
dc.contributor.author강석민-
dc.contributor.author오재원-
dc.contributor.author이범섭-
dc.contributor.author이지현-
dc.date.accessioned2015-01-06T17:14:02Z-
dc.date.available2015-01-06T17:14:02Z-
dc.date.issued2014-
dc.identifier.issn2211-1247-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/99588-
dc.description.abstractDilated cardiomyopathy (DCM) is a progressive heart disease characterized by left ventricular dilation and contractile dysfunction. Although many candidate genes have been identified with mouse models, few of them have been shown to be associated with DCM in humans. Germline depletion of Ncoa6, a nuclear hormone receptor coactivator, leads to embryonic lethality and heart defects. However, it is unclear whether Ncoa6 mutations cause heart diseases in adults. Here, we report that two independent mouse models of NCOA6 dysfunction develop severe DCM with impaired mitochondrial function and reduced activity of peroxisome proliferator-activated receptor δ (PPARδ), an NCOA6 target critical for normal heart function. Sequencing of NCOA6-coding regions revealed three independent nonsynonymous mutations present in 5 of 50 (10%) patients with idiopathic DCM (iDCM). These data suggest that malfunction of NCOA6 can cause DCM in humans.-
dc.description.statementOfResponsibilityopen-
dc.format.extent991~998-
dc.relation.isPartOfCell Reports-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titlePerturbation of NCOA6 Leads to Dilated Cardiomyopathy-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentYonsei Biomedical Research Center (연세의생명연구원)-
dc.contributor.googleauthorJae-il Roh-
dc.contributor.googleauthorCheolho Cheong-
dc.contributor.googleauthorYoung Hoon Sung-
dc.contributor.googleauthorJeehyun Lee-
dc.contributor.googleauthorJaewon Oh-
dc.contributor.googleauthorBeom Seob Lee-
dc.contributor.googleauthorJong-Eun Lee-
dc.contributor.googleauthorYong Song Gho-
dc.contributor.googleauthorDuk-Kyung Kim-
dc.contributor.googleauthorChan Bae Park-
dc.contributor.googleauthorJi Hyun Lee-
dc.contributor.googleauthorJae Woon Lee-
dc.contributor.googleauthorSeok-Min Kang-
dc.contributor.googleauthorHan-Woong Lee-
dc.identifier.doi10.1016/j.celrep.2014.07.027-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00037-
dc.contributor.localIdA02792-
dc.contributor.localIdA02395-
dc.contributor.localIdA03214-
dc.relation.journalcodeJ00488-
dc.identifier.urlhttp://www.sciencedirect.com/science/article/pii/S2211124714006111-
dc.contributor.alternativeNameKang, Seok Min-
dc.contributor.alternativeNameOh, Jae Won-
dc.contributor.alternativeNameLee, Beom Seob-
dc.contributor.alternativeNameLee, Ji Hyun-
dc.contributor.affiliatedAuthorKang, Seok Min-
dc.contributor.affiliatedAuthorLee, Beom Seob-
dc.contributor.affiliatedAuthorOh, Jae Won-
dc.contributor.affiliatedAuthorLee, Ji Hyun-
dc.rights.accessRightsfree-
dc.citation.volume8-
dc.citation.number4-
dc.citation.startPage991-
dc.citation.endPage998-
dc.identifier.bibliographicCitationCell Reports, Vol.8(4) : 991-998, 2014-
Appears in Collections:
1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers

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