Article
Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin.
Investigative ophthalmology & visual science - 1 May 2015
Mellgren Anne Elisabeth Christensen, Bruland Ove, Vedeler Anni, Saraste Jaakko, Schönheit Jürgen, Bredrup Cecilie, Knappskog Per Morten, Rødahl Eyvind
Abstract excerpt
PURPOSE: Congenital stromal corneal dystrophy (CSCD) is an autosomal dominant condition with clouding of the cornea due to stromal opacities. It is caused by mutations in the decorin gene (DCN) leading to the expression of a truncated form of decorin. In an attempt to replicate this condition in mice, a knock-in mouse strain, 952delT Dcn, was created. METHODS: Mice were constructed by targeted mutation....
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