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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5485
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pubmed:dateCreated |
2000-9-21
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pubmed:abstractText |
Triplet repeat diseases are disorders in which there is expansion of a repeat sequence of three nucleotides in the affected gene. Although the pathology usually results from production of a defective protein, myotonic dystrophy (DM) has proved to be a puzzle because the expanded repeats appear in a non-coding region of the affected DMPK gene. In a Perspective, Tapscott explains how findings from a new mouse model of DM (Mankodi et al.) could solve this paradox.
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pubmed:commentsCorrections |
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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 |
http://linkedlifedata.com/resource/pubmed/chemical/3' Untranslated Regions,
http://linkedlifedata.com/resource/pubmed/chemical/Homeodomain Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Protein-Serine-Threonine Kinases,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger,
http://linkedlifedata.com/resource/pubmed/chemical/RNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/SIX5 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Six5 protein, mouse,
http://linkedlifedata.com/resource/pubmed/chemical/myotonic dystrophy protein kinase
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0036-8075
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
8
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pubmed:volume |
289
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1701-2
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:11001736-3' Untranslated Regions,
pubmed-meshheading:11001736-Animals,
pubmed-meshheading:11001736-Anticipation, Genetic,
pubmed-meshheading:11001736-Cataract,
pubmed-meshheading:11001736-Chromosomes, Human, Pair 19,
pubmed-meshheading:11001736-Chromosomes, Human, Pair 3,
pubmed-meshheading:11001736-Disease Models, Animal,
pubmed-meshheading:11001736-Gene Expression Regulation,
pubmed-meshheading:11001736-Heart Conduction System,
pubmed-meshheading:11001736-Homeodomain Proteins,
pubmed-meshheading:11001736-Humans,
pubmed-meshheading:11001736-Mice,
pubmed-meshheading:11001736-Mice, Knockout,
pubmed-meshheading:11001736-Muscle, Skeletal,
pubmed-meshheading:11001736-Myotonic Dystrophy,
pubmed-meshheading:11001736-Phenotype,
pubmed-meshheading:11001736-Protein-Serine-Threonine Kinases,
pubmed-meshheading:11001736-RNA, Messenger,
pubmed-meshheading:11001736-RNA Processing, Post-Transcriptional,
pubmed-meshheading:11001736-RNA-Binding Proteins,
pubmed-meshheading:11001736-Trinucleotide Repeat Expansion
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pubmed:year |
2000
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pubmed:articleTitle |
Deconstructing myotonic dystrophy.
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pubmed:affiliation |
Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA. stapscot@fhcrc.org
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pubmed:publicationType |
Journal Article,
Comment
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