Ontology highlight
ABSTRACT:
SUBMITTER: Bell S
PROVIDER: S-EPMC6067152 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Bell Scott S Maussion Gilles G Jefri Malvin M Peng Huashan H Theroux Jean-Francois JF Silveira Heika H Soubannier Vincent V Wu Hanrong H Hu Peng P Galat Ekaterina E Torres-Platas S Gabriela SG Boudreau-Pinsonneault Camille C O'Leary Liam A LA Galat Vasiliy V Turecki Gustavo G Durcan Thomas M TM Fon Edward A EA Mechawar Naguib N Ernst Carl C
Stem cell reports 20180621 1
Heterozygous loss-of-function mutations in GRIN2B, a subunit of the NMDA receptor, cause intellectual disability and language impairment. We developed clonal models of GRIN2B deletion and loss-of-function mutations in a region coding for the glutamate binding domain in human cells and generated neurons from a patient harboring a missense mutation in the same domain. Transcriptome analysis revealed extensive increases in genes associated with cell proliferation and decreases in genes associated w ...[more]