Publications by authors named "Quincy Prescott"
Purpose: Cataracts are the most common cause of blindness worldwide. Inherited cataract is a clinically and genetically heterogeneous disease. Here we report a novel mutation in the paired-like homeodomain 3 (PITX3) gene segregating in a four generation English family with an isolated autosomal dominant posterior polar cataract.
View Article and Find Full Text PDFCataracts are characterized by an opacification of the eye lens, often caused by protein misfolding and aggregation. The intermediate filament protein vimentin, which is highly expressed in lens fiber cells and in mesenchymal tissues, is a main structural determinant in these cells forming a membrane-connected cytoskeleton. Additional functions of vimentin remain to be identified.
View Article and Find Full Text PDFArticle Synopsis
- The study explores mutations in unrelated Czech and British families with posterior polymorphous corneal dystrophy (PPCD), a rare eye disorder.
- Four novel pathogenic mutations were found in the ZEB1 gene across four families, including deletions, a nonsense mutation, and a duplication.
- No disease-causing mutations were identified in six other families, suggesting that additional unidentified genes may contribute to PPCD.