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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
1999-6-7
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pubmed:abstractText |
We identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-1544421,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-1606666,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-2056125,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-2395459,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-2563634,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-2954560,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-3383876,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-6310553,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-6587361,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-7195268,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-7657794,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-7994023,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-8316858,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-8600387,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-8898372,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-9099608,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-9113406,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-9114002,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-9228976,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-9236436,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-9535554,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-9562578,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-9563954,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-9742053,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10330430-9800880
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0021-9738
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
103
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
R39-43
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:10330430-Actins,
pubmed-meshheading:10330430-Adult,
pubmed-meshheading:10330430-Aged,
pubmed-meshheading:10330430-Aged, 80 and over,
pubmed-meshheading:10330430-Base Sequence,
pubmed-meshheading:10330430-Cardiomyopathy, Dilated,
pubmed-meshheading:10330430-Cardiomyopathy, Hypertrophic,
pubmed-meshheading:10330430-DNA Primers,
pubmed-meshheading:10330430-Exons,
pubmed-meshheading:10330430-Female,
pubmed-meshheading:10330430-Genetic Linkage,
pubmed-meshheading:10330430-Humans,
pubmed-meshheading:10330430-Lod Score,
pubmed-meshheading:10330430-Male,
pubmed-meshheading:10330430-Middle Aged,
pubmed-meshheading:10330430-Models, Molecular,
pubmed-meshheading:10330430-Myocardial Contraction,
pubmed-meshheading:10330430-Pedigree,
pubmed-meshheading:10330430-Point Mutation,
pubmed-meshheading:10330430-Protein Conformation
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pubmed:year |
1999
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pubmed:articleTitle |
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.
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pubmed:affiliation |
Department of Cardiology, and Research Unit for Molecular Medicine, Skejby University Hospital, Brendstrupgaardsvej, DK-8200 Aarhus N, Denmark. skejjm@aau.dk
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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