Source:http://linkedlifedata.com/resource/pubmed/id/16099459
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
21
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pubmed:dateCreated |
2005-8-29
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pubmed:databankReference | |
pubmed:abstractText |
Mutations of SGCE encoding epsilon-sarcoglycan cause myoclonus-dystonia. SGCE is paternally expressed; however, 5-10% of patients show maternal inheritance of the disease. We found Sgce was exclusively paternally expressed in mice by using a novel polymorphism marker. The result was confirmed in Sgce heterozygous knockout mice. This finding suggests that maternally inherited myoclonus-dystonia may not result from maternal expression of SGCE. Furthermore, we report a new family of alternatively spliced Sgce mRNA expressed in the brain coding for different C-terminal sequences possessing a PDZ-binding motif. Our results provide a better basis for diagnosis and understanding of the pathogenesis of myoclonus-dystonia.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0014-5793
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
29
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pubmed:volume |
579
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
4822-8
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:16099459-Alternative Splicing,
pubmed-meshheading:16099459-Amino Acid Sequence,
pubmed-meshheading:16099459-Animals,
pubmed-meshheading:16099459-Brain,
pubmed-meshheading:16099459-Gene Targeting,
pubmed-meshheading:16099459-Genetic Markers,
pubmed-meshheading:16099459-Humans,
pubmed-meshheading:16099459-Mice,
pubmed-meshheading:16099459-Mice, Inbred C57BL,
pubmed-meshheading:16099459-Mice, Knockout,
pubmed-meshheading:16099459-Molecular Sequence Data,
pubmed-meshheading:16099459-Myoclonus,
pubmed-meshheading:16099459-Polymorphism, Genetic,
pubmed-meshheading:16099459-RNA, Messenger, Stored,
pubmed-meshheading:16099459-Sarcoglycans
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pubmed:year |
2005
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pubmed:articleTitle |
Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.
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pubmed:affiliation |
Department of Molecular and Integrative Physiology, Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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