[HTML][HTML] Insufficient dose of ERCC8 protein caused by a frameshift mutation is associated with keratoconus with congenital cataracts
XD Hao, YZ Yao, KG Xu, B Dong… - … & Visual Science, 2022 - tvst.arvojournals.org
Purpose: The purpose of this study was to identify a new candidate gene for keratoconus
and congenital cataracts and further investigate its underlying pathogenic mechanisms …
and congenital cataracts and further investigate its underlying pathogenic mechanisms …
[HTML][HTML] Application of transgenic mice to the molecular pathogenesis of cataract
Y Zhang, XY Chen, YZ Hu, X Zhang… - International Journal …, 2024 - pmc.ncbi.nlm.nih.gov
One of the most prevalent disorders that cause blindness worldwide is cataract, and its
essence is the visual disorder caused by the opacity of the lens. The significant degree of …
essence is the visual disorder caused by the opacity of the lens. The significant degree of …
[HTML][HTML] JAM-C Is Important for Lens Epithelial Cell Proliferation and Lens Fiber Maturation in Murine Lens Development
Q Sun, J Li, J Ma, Y Zheng, R Ju, X Li… - … & Visual Science, 2023 - tvst.arvojournals.org
Purpose: The underlying mechanism of congenital cataracts caused by deficiency or
mutation of junctional adhesion molecule C (JAM-C) gene remains unclear. Our study aims …
mutation of junctional adhesion molecule C (JAM-C) gene remains unclear. Our study aims …
Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease
T Abdallah Moady, M Odeh, A Fedida, Z Segal… - Frontiers in …, 2023 - frontiersin.org
Introduction Pathogenic variants of the junctional adhesion molecule 3 (JAM3/JAM-C;
OMIM# 606871) is the cause of the rare recessive disorder called hemorrhagic destruction …
OMIM# 606871) is the cause of the rare recessive disorder called hemorrhagic destruction …