MRNA Sequencing of Limbal Epithelial Cells and mRNA/miRNA Profiling of Limbal Stromal Cells in <i>PAX6</i>-Related Congenital Aniridia.

ABSTRACT: The dysfunction of limbal epithelial cells (LECs) and limbal stromal cells (LSCs) in congenital aniridia remains incompletely understood. We aimed to analyze mRNA expression profiles of primary human LECs and LSCs, as well as microRNA (miRNA) expression in LSCs, from patients with congenital aniridia (AN-LECs and AN-LSCs). mRNA sequencing of primary human LECs and mRNA and miRNA sequencing of LSCs were performed from patients with aniridia and healthy controls. Gene ontology and pathway analyses were used to evaluate biological processes, cellular components, and molecular functions. Selected deregulated mRNAs and miRNAs were validated by quantitative real-time PCR (RT-qPCR). A total of 188 differentially expressed genes (DEGs) were identified in AN-LECs, and 3001 DEGs in AN-LSCs. In AN-LE

SUBMITTER: Stachon T 

PROVIDER: S-EPMC12939772 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature