Cited 20 times in
Perturbation of NCOA6 Leads to Dilated Cardiomyopathy
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 강석민 | - |
dc.contributor.author | 오재원 | - |
dc.contributor.author | 이범섭 | - |
dc.contributor.author | 이지현 | - |
dc.date.accessioned | 2015-01-06T17:14:02Z | - |
dc.date.available | 2015-01-06T17:14:02Z | - |
dc.date.issued | 2014 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/99588 | - |
dc.description.abstract | Dilated 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.statementOfResponsibility | open | - |
dc.format.extent | 991~998 | - |
dc.relation.isPartOf | CELL REPORTS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Amino Acid Sequence | - |
dc.subject.MESH | Animals | - |
dc.subject.MESH | Base Sequence | - |
dc.subject.MESH | Cardiomyopathy, Dilated/genetics* | - |
dc.subject.MESH | Cardiomyopathy, Dilated/metabolism | - |
dc.subject.MESH | Cardiomyopathy, Dilated/pathology | - |
dc.subject.MESH | Cells, Cultured | - |
dc.subject.MESH | Gene Knockout Techniques | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Mice, Transgenic | - |
dc.subject.MESH | Mitochondria, Heart/physiology | - |
dc.subject.MESH | Molecular Sequence Data | - |
dc.subject.MESH | Mutation, Missense | - |
dc.subject.MESH | Myocardium/metabolism | - |
dc.subject.MESH | Myocardium/pathology | - |
dc.subject.MESH | Myocytes, Cardiac/metabolism | - |
dc.subject.MESH | Nuclear Receptor Coactivators/genetics* | - |
dc.subject.MESH | Nuclear Receptor Coactivators/metabolism | - |
dc.subject.MESH | PPAR delta/metabolism | - |
dc.subject.MESH | Transcription, Genetic | - |
dc.title | Perturbation of NCOA6 Leads to Dilated Cardiomyopathy | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Yonsei Biomedical Research Center (연세의생명연구원) | - |
dc.contributor.googleauthor | Jae-il Roh | - |
dc.contributor.googleauthor | Cheolho Cheong | - |
dc.contributor.googleauthor | Young Hoon Sung | - |
dc.contributor.googleauthor | Jeehyun Lee | - |
dc.contributor.googleauthor | Jaewon Oh | - |
dc.contributor.googleauthor | Beom Seob Lee | - |
dc.contributor.googleauthor | Jong-Eun Lee | - |
dc.contributor.googleauthor | Yong Song Gho | - |
dc.contributor.googleauthor | Duk-Kyung Kim | - |
dc.contributor.googleauthor | Chan Bae Park | - |
dc.contributor.googleauthor | Ji Hyun Lee | - |
dc.contributor.googleauthor | Jae Woon Lee | - |
dc.contributor.googleauthor | Seok-Min Kang | - |
dc.contributor.googleauthor | Han-Woong Lee | - |
dc.identifier.doi | 10.1016/j.celrep.2014.07.027 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00037 | - |
dc.contributor.localId | A02792 | - |
dc.contributor.localId | A02395 | - |
dc.contributor.localId | A03214 | - |
dc.relation.journalcode | J00488 | - |
dc.identifier.eissn | 2211-1247 | - |
dc.identifier.pmid | 25131203 | - |
dc.identifier.url | http://www.sciencedirect.com/science/article/pii/S2211124714006111 | - |
dc.contributor.alternativeName | Kang, Seok Min | - |
dc.contributor.alternativeName | Oh, Jae Won | - |
dc.contributor.alternativeName | Lee, Beom Seob | - |
dc.contributor.alternativeName | Lee, Ji Hyun | - |
dc.contributor.affiliatedAuthor | Kang, Seok Min | - |
dc.contributor.affiliatedAuthor | Lee, Beom Seob | - |
dc.contributor.affiliatedAuthor | Oh, Jae Won | - |
dc.contributor.affiliatedAuthor | Lee, Ji Hyun | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 8 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 991 | - |
dc.citation.endPage | 998 | - |
dc.identifier.bibliographicCitation | CELL REPORTS, Vol.8(4) : 991-998, 2014 | - |
dc.identifier.rimsid | 38936 | - |
dc.type.rims | ART | - |
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