Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice.

ABSTRACT: Ocular anterior segment dysgenesis (ASD) refers to a collection of developmental disorders affecting the anterior structures of the eye. Although a number of genes have been implicated in the etiology of ASD, the underlying pathogenetic mechanisms remain unclear. Mutations in genes encoding collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) cause Gould syndrome, a multi-system disorder that often includes ocular manifestations such as ASD and glaucoma. COL4A1 and COL4A2 are abundant basement membrane proteins that provide structural support to tissues and modulate signaling through interactions with other extracellular matrix proteins, growth factors, and cell surface receptors. In this study, we used a combination of histological, molecular, genetic and pharmacological approaches to d

SUBMITTER: Mao M 

PROVIDER: S-EPMC10410753 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature