Ontology highlight
ABSTRACT:
SUBMITTER: Yao H
PROVIDER: S-EPMC7562747 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Yao Hui H Hannum Douglas F DF Zhai Yiwen Y Hill Sophie F SF Albanus Ricardo D 'Oliveira RD' Lou Wenjia W Skidmore Jennifer M JM Sanchez Gilson G Saiakhova Alina A Bielas Stephanie L SL Scacheri Peter P Ljungman Mats M Parker Stephen C J SCJ Martin Donna M DM
Scientific reports 20201015 1
CHARGE syndrome, a rare multiple congenital anomaly condition, is caused by haploinsufficiency of the chromatin remodeling protein gene CHD7 (Chromodomain helicase DNA binding protein 7). Brain abnormalities and intellectual disability are commonly observed in individuals with CHARGE, and neuronal differentiation is reduced in CHARGE patient-derived iPSCs and conditional knockout mouse brains. However, the mechanisms of CHD7 function in nervous system development are not well understood. In this ...[more]