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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2007-3-29
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pubmed:abstractText |
Neural progenitor proliferation and migration influence brain size during neurogenesis. We report an autosomal recessive microcephaly syndrome cosegregating with a homozygous balanced translocation between chromosomes 3p and 10q, and we show that a position effect at the breakpoint on chromosome 3 silences the eomesodermin transcript (EOMES), also known as T-box-brain2 (TBR2). Together with the expression pattern of EOMES in the developing human brain, our data suggest that EOMES is involved in neuronal division and/or migration. Thus, mutations in genes encoding not only mitotic and apoptotic proteins but also transcription factors may be responsible for malformative microcephaly syndromes.
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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 |
1061-4036
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pubmed:author |
pubmed-author:AmielJeanneJ,
pubmed-author:AsermouhAbdellahA,
pubmed-author:Attié-BitachTaniaT,
pubmed-author:BaalaLekbirL,
pubmed-author:BoddaertNathalieN,
pubmed-author:BriaultSylvainS,
pubmed-author:Encha-RazaviFéréchtéF,
pubmed-author:EtcheversHeather CHC,
pubmed-author:LaumonnierFrédéricF,
pubmed-author:LyonnetStanislasS,
pubmed-author:MunnichArnoldA,
pubmed-author:NatiqAbdelhafidA,
pubmed-author:PicardCapucineC,
pubmed-author:SbitiAzizaA,
pubmed-author:SefianiAbdelazizA
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pubmed:issnType |
Print
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pubmed:volume |
39
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
454-6
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:17353897-Abnormalities, Multiple,
pubmed-meshheading:17353897-Agenesis of Corpus Callosum,
pubmed-meshheading:17353897-Chromosomes, Human, Pair 10,
pubmed-meshheading:17353897-Chromosomes, Human, Pair 3,
pubmed-meshheading:17353897-DNA Mutational Analysis,
pubmed-meshheading:17353897-Gene Silencing,
pubmed-meshheading:17353897-Homozygote,
pubmed-meshheading:17353897-Humans,
pubmed-meshheading:17353897-Male,
pubmed-meshheading:17353897-Microcephaly,
pubmed-meshheading:17353897-Pedigree,
pubmed-meshheading:17353897-T-Box Domain Proteins,
pubmed-meshheading:17353897-Translocation, Genetic
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pubmed:year |
2007
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pubmed:articleTitle |
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
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pubmed:affiliation |
Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Maroc.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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