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Article

A distinct response to endogenous DNA damage in the development of Nbs1-deficient cortical neurons

3 Jan 2012

Abstract excerpt

Microcephaly is a clinical characteristic for human nijmegen breakage syndrome (NBS, mutated in NBS1 gene), a chromosomal instability syndrome. However, the underlying molecular pathogenesis remains elusive. In the present study, we demonstrate that neuronal disruption of NBS (Nbn in mice) causes microcephaly characterized by the reduction of cerebral cortex and corpus callosum, recapitulating neuronal anomalies...

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PMID: 22212482
DOI: 10.1038/cr.2012.3

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