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Nat Genet ; 37(4): 353-5, 2005 Apr.
Article in English | MEDLINE | ID: mdl-15793586

ABSTRACT

Autosomal recessive primary microcephaly is a potential model in which to research genes involved in human brain growth. We show that two forms of the disorder result from homozygous mutations in the genes CDK5RAP2 and CENPJ. We found neuroepithelial expression of the genes during prenatal neurogenesis and protein localization to the spindle poles of mitotic cells, suggesting that a centrosomal mechanism controls neuron number in the developing mammalian brain.


Subject(s)
Brain/anatomy & histology , Centrosome/physiology , Intracellular Signaling Peptides and Proteins/genetics , Microcephaly/genetics , Microtubule-Associated Proteins/genetics , Mutation/genetics , Nerve Tissue Proteins/genetics , Neurons/cytology , Animals , Cell Cycle Proteins , Female , Gene Expression Regulation, Developmental , Genes, Recessive , HeLa Cells , Homozygote , Humans , Male , Mice , Mitosis/physiology , Molecular Sequence Data , Neurons/physiology , Pedigree , Spindle Apparatus/physiology
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