Both genetic and environmental factors have been considered to play a role in the etiology
keratoconus. Eye rubbing, and more recently eye compression due to sleeping position …

Corneal endothelial dystrophies are a heterogeneous group of diseases with different
modes of inheritance and genetic basis for each dystrophy. The genes associated with these …

Congenital hereditary endothelial dystrophy 1 (CHED1) and posterior polymorphous
corneal dystrophy 1 (PPCD1) are autosomal-dominant corneal endothelial dystrophies that …

In a large family of Czech origin, we mapped a locus for an autosomal-dominant corneal
endothelial dystrophy, posterior polymorphous corneal dystrophy 4 (PPCD4), to 8q22. 3 …

Pathogenic variants in the highly conserved OVOL2 promoter region cause posterior
polymorphous corneal dystrophy (PPCD) 1 by inducing an ectopic expression of the …

The identification of a stem cell regulatory gene which is aberrantly expressed in glioma and
associated with patient survival would increase the understanding of the role of glioma …

Cleft lip and palate are common birth defects resulting from failure of the facial processes to
fuse during development. The mammalian grainyhead-like (Grhl1-3) genes play key roles in …

Mutations associated with posterior polymorphous corneal dystrophy (PPCD) have been
identified in three genes: ZEB1 (zinc-finger E-box binding homeobox 1) associated with sub …

Introduction The pathogenic role of variants in TCF4 and COL8A2 in causing Fuchs'
endothelial corneal dystrophy (FECD) is not controversial and has been confirmed by …

Background: X-linked Alport syndrome results from the effect of COL4A5 mutations on
basement membranes in the kidney, ear and eye. This study investigated individuals with X …