Ontology highlight
ABSTRACT:
SUBMITTER: Yu T
PROVIDER: S-EPMC3870572 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
Yu Tian T Meiners Linda C LC Danielsen Katrin K Wong Monica Ty MT Bowler Timothy T Reinberg Danny D Scambler Peter J PJ van Ravenswaaij-Arts Conny Ma CM Basson M Albert MA
eLife 20131224
Mutations in CHD7 are the major cause of CHARGE syndrome, an autosomal dominant disorder with an estimated prevalence of 1/15,000. We have little understanding of the disruptions in the developmental programme that underpin brain defects associated with this syndrome. Using mouse models, we show that Chd7 haploinsufficiency results in reduced Fgf8 expression in the isthmus organiser (IsO), an embryonic signalling centre that directs early cerebellar development. Consistent with this observation, ...[more]