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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2004-11-1
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pubmed:abstractText |
We identified a large Charcot-Marie-Tooth disease family with a novel mutation in the Connexin 32 (Cx32) P2 promoter region at position -526bp. This mutation was in a highly conserved SOX10 binding site. Functional studies were conducted on the Cx32 promoter that showed that this mutation reduced the activity of the Cx32 promoter and the affinity for SOX10 binding. These data suggest that interaction between the Cx32 P2 promoter, SOX10, and EGR2 highlight a mechanism of peripheral nerve dysfunction.
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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/Connexins,
http://linkedlifedata.com/resource/pubmed/chemical/DNA,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/ERG protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/High Mobility Group Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/SOX10 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/SOXE Transcription Factors,
http://linkedlifedata.com/resource/pubmed/chemical/Trans-Activators,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors,
http://linkedlifedata.com/resource/pubmed/chemical/connexin 32
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0364-5134
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
56
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
730-4
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:15470753-Animals,
pubmed-meshheading:15470753-COS Cells,
pubmed-meshheading:15470753-Cercopithecus aethiops,
pubmed-meshheading:15470753-Charcot-Marie-Tooth Disease,
pubmed-meshheading:15470753-Connexins,
pubmed-meshheading:15470753-DNA,
pubmed-meshheading:15470753-DNA-Binding Proteins,
pubmed-meshheading:15470753-Electrophoretic Mobility Shift Assay,
pubmed-meshheading:15470753-Family Health,
pubmed-meshheading:15470753-Female,
pubmed-meshheading:15470753-Genetic Linkage,
pubmed-meshheading:15470753-High Mobility Group Proteins,
pubmed-meshheading:15470753-Humans,
pubmed-meshheading:15470753-Male,
pubmed-meshheading:15470753-Mutation,
pubmed-meshheading:15470753-Neural Conduction,
pubmed-meshheading:15470753-Peripheral Nerves,
pubmed-meshheading:15470753-Promoter Regions, Genetic,
pubmed-meshheading:15470753-SOXE Transcription Factors,
pubmed-meshheading:15470753-Sex Factors,
pubmed-meshheading:15470753-Trans-Activators,
pubmed-meshheading:15470753-Transcription Factors,
pubmed-meshheading:15470753-Transfection
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pubmed:year |
2004
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pubmed:articleTitle |
Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.
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pubmed:affiliation |
Department of Molecular Neurosciences, Institute of Neurology, Queen Square, London, UK. h.houlden@ion.ucl.ac.uk
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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