Ontology highlight
ABSTRACT:
SUBMITTER: Poulter JA
PROVIDER: S-EPMC2820188 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
Poulter James A JA Ali Manir M Gilmour David F DF Rice Aine A Kondo Hiroyuki H Hayashi Kenshi K Mackey David A DA Kearns Lisa S LS Ruddle Jonathan B JB Craig Jamie E JE Pierce Eric A EA Downey Louise M LM Mohamed Moin D MD Markham Alexander F AF Inglehearn Chris F CF Toomes Carmel C
American journal of human genetics 20100201 2
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Although mutations in three genes (LRP5, FZD4, and NDP) are known to cause FEVR, these account for only a fraction of FEVR cases. The proteins encoded by these FEVR genes form part of a signaling complex that activates the Norrin-beta-catenin signaling pathway. Recently, through a large-scale reverse genetic screen in mice, Junge and colleagues identified an additional member of this sig ...[more]