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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5978
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pubmed:dateCreated |
2010-4-30
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pubmed:abstractText |
Mirror movements are involuntary contralateral movements that mirror voluntary ones and are often associated with defects in midline crossing of the developing central nervous system. We studied two large families, one French Canadian and one Iranian, in which isolated congenital mirror movements were inherited as an autosomal dominant trait. We found that affected individuals carried protein-truncating mutations in DCC (deleted in colorectal carcinoma), a gene on chromosome 18q21.2 that encodes a receptor for netrin-1, a diffusible protein that helps guide axon growth across the midline. Functional analysis of the mutant DCC protein from the French Canadian family revealed a defect in netrin-1 binding. Thus, DCC has an important role in lateralization of the human nervous system.
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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:month |
Apr
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pubmed:issn |
1095-9203
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pubmed:author |
pubmed-author:AsselinGéraldineG,
pubmed-author:CharronFrédéricF,
pubmed-author:ChouinardSylvainS,
pubmed-author:DiabSabrinaS,
pubmed-author:DionPatrick APA,
pubmed-author:DubéMarie-PierreMP,
pubmed-author:GirardSimonS,
pubmed-author:HincePascaleP,
pubmed-author:MorinStevesS,
pubmed-author:PhamJessica M TJM,
pubmed-author:RivièreJean-BaptisteJB,
pubmed-author:RochefortDanielD,
pubmed-author:RouleauGuy AGA,
pubmed-author:SharafaddinzadehNaserN,
pubmed-author:SrourMyriamM,
pubmed-author:ThéoretHugoH
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pubmed:issnType |
Electronic
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pubmed:day |
30
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pubmed:volume |
328
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
592
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pubmed:meshHeading |
pubmed-meshheading:20431009-Axons,
pubmed-meshheading:20431009-Codon, Terminator,
pubmed-meshheading:20431009-Dyskinesias,
pubmed-meshheading:20431009-Female,
pubmed-meshheading:20431009-Frameshift Mutation,
pubmed-meshheading:20431009-Functional Laterality,
pubmed-meshheading:20431009-Genes, DCC,
pubmed-meshheading:20431009-Genes, Dominant,
pubmed-meshheading:20431009-Genome-Wide Association Study,
pubmed-meshheading:20431009-Haplotypes,
pubmed-meshheading:20431009-Humans,
pubmed-meshheading:20431009-Male,
pubmed-meshheading:20431009-Mutant Proteins,
pubmed-meshheading:20431009-Nerve Growth Factors,
pubmed-meshheading:20431009-Nervous System,
pubmed-meshheading:20431009-Pedigree,
pubmed-meshheading:20431009-Protein Binding,
pubmed-meshheading:20431009-Receptors, Cell Surface,
pubmed-meshheading:20431009-Tumor Suppressor Proteins
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pubmed:year |
2010
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pubmed:articleTitle |
Mutations in DCC cause congenital mirror movements.
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pubmed:affiliation |
Center of Excellence in Neuromics, Université de Montréal, Montréal, QC H2L 2W5, Canada.
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pubmed:publicationType |
Journal Article
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