Mimicking TGFBI Hot-Spot Mutation Did Not Result in Any Deposit Formation in the Zebrafish Cornea.

Purpose: Mutations in transforming growth factor beta-induced (TGFBI) protein are associated with a group of corneal dystrophies (CDs), classified as TGFBI-associated CDs, characterized by deposits in the cornea. Mouse models were not proper in several aspects for modelling human disease. The goal of this study was to generate zebrafish mutants to investigate the corneal phenotype and to decide whether zebrafish could be a potential model for TGFBI-associated CDs.

Physical evidence on desmin-lamin B interaction.

Desmin is a muscle specific intermediate filament protein located in cytoplasm. Lamin B, on the other hand, is a nuclear intermediate filament protein. There are studies suggesting a possible interaction between desmin and lamin B yet there is no physical evidence.

Genetic analysis of and in Turkish patients with corneal dystrophies: Five novel variations in .

Purpose: To identify pathogenic variations in () and () genes in Turkish patients with corneal dystrophy (CD).

Methods: In this study, patients with macular corneal dystrophy (MCD; n = 18), granular corneal dystrophy type 1 (GCD1; n = 12), and lattice corneal dystrophy type 1 (LCD1; n = 4), as well as 50 healthy controls, were subjected to clinical and genetic examinations. The level of antigenic keratan sulfate (AgKS) in the serum samples of patients with MCD was determined with enzyme-linked immunosorbent assay (ELISA) to immunophenotypically subtype the patients as MCD type I and MCD type II.