Additional file 2 of A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus
PAX6-positive microglia like cell Overall design: Microglia are the resident immune cells of the central nervous system (CNS). They govern the immunogenicity of the retina, which is considered to be p
Purpose To investigate the heritability of genetic influence on macular choroidal vascularity index (CVI). Methods Total choroidal area (TCA), luminal area (LA), and CVI was measured using horizontal
PurposeIn the present study, we evaluate gene and protein expression levels in an in vitro siRNA-mediated PAX6 knockdown limbal epithelial cell (LEC) model after RA treatment. This study aims to inves
We identified a novel microdeletion, 517 kb in size located about 133 kb downstream of the PAX6 gene, responsible for congenital aniridia in this Chinese family, which expands the spectrum of aniridia
