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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2010-12-23
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pubmed:abstractText |
Lamins A and C, encoded by the LMNA gene, are filamentous proteins that form the core scaffold of the nuclear lamina. Dominant LMNA gene mutations cause multiple human diseases including cardiac and skeletal myopathies. The nuclear lamina is thought to regulate gene expression by its direct interaction with chromatin. LMNA gene mutations may mediate disease by disrupting normal gene expression.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1932-6203
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pubmed:author |
pubmed-author:AbuisneinehFidaF,
pubmed-author:DellefaveLisaL,
pubmed-author:FahrenbachJohn PJP,
pubmed-author:LabnoChristine MCM,
pubmed-author:MacLeodHeatherH,
pubmed-author:McNallyElizabethE,
pubmed-author:MewbornStephanie KSK,
pubmed-author:PuckelwartzMegan JMJ,
pubmed-author:PytelPeterP,
pubmed-author:ReddyKarenK,
pubmed-author:SeligSaraS,
pubmed-author:SinghHarinderH,
pubmed-author:ZhangYuanY
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pubmed:issnType |
Electronic
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
e14342
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pubmed:meshHeading |
pubmed-meshheading:21179469-Adult,
pubmed-meshheading:21179469-Cardiomyopathies,
pubmed-meshheading:21179469-Cell Nucleus,
pubmed-meshheading:21179469-Chromosome Mapping,
pubmed-meshheading:21179469-Fibroblasts,
pubmed-meshheading:21179469-Gene Expression Regulation,
pubmed-meshheading:21179469-Genes, Dominant,
pubmed-meshheading:21179469-Humans,
pubmed-meshheading:21179469-In Situ Hybridization, Fluorescence,
pubmed-meshheading:21179469-Lamin Type A,
pubmed-meshheading:21179469-Male,
pubmed-meshheading:21179469-Microscopy, Fluorescence,
pubmed-meshheading:21179469-Mutation,
pubmed-meshheading:21179469-Myocardium
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pubmed:year |
2010
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pubmed:articleTitle |
Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation.
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pubmed:affiliation |
Department of Medicine, The University of Chicago, Chicago, Illinois, United States of America.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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