Journal
MOLECULAR GENETICS AND METABOLISM REPORTS
Volume 26, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.ymgmr.2021.100712
Keywords
Corneal opacity; Transcriptome analysis; Fibrosis; Basement membrane disruption; Glycosaminoglycans
Categories
Funding
- Jack Buncher Foundation
- National Institutes of Health CORE Grant [P30 EY008098]
- Eye and Ear Foundation of Pittsburgh, Pennsylvania, USA
- Research to Prevent Blindness, New York, New York, USA
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This study investigated the causal mechanisms of congenital corneal opacities (CCO) by phenotyping, histopathology analysis, and assessment of transcriptomic changes. A novel mechanism and two key players contributing to CCO were identified based on the findings.
Congenital corneal opacities (CCO) are a group of blinding corneal disorders, where the underlying molecular mechanisms are poorly understood. Phenotyping through specialized imaging and histopathology analysis, together with assessment of key transcriptomic changes (including glycosaminoglycan metabolic enzymes) in cornea(s) with CCO from a case of Fanconi anemia is the approach taken in this study to identify causal mechanisms. Based on our findings, we propose a novel mechanism and two key players contributing to CCO.
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