Ontology highlight
ABSTRACT:
SUBMITTER: Li R
PROVIDER: S-EPMC3343649 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Li Rui R Yang Yun-Gui YG Gao Yunzhou Y Wang Zhao-Qi ZQ Tong Wei-Min WM
Cell research 20120103 5
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 in human NBS. Nbs1-deficient neocortex shows accumulative endogenous DNA damage and ...[more]