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Article
| Open Access
A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects
The genetic basis of cataract is not well understood. Here, the authors perform a genome-wide association multiethnic meta-analysis of cataract, finding 37 new loci and replicating known and new loci. They additionally perform sex-specific analyses, identifying new associations specific to women.
- Hélène Choquet
- , Ronald B. Melles
- & Eric Jorgenson
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Article
| Open Access
Qki activates Srebp2-mediated cholesterol biosynthesis for maintenance of eye lens transparency
Eye lens cells are highly enriched in cholesterol that sustains lens transparency, and disruption of cholesterol biosynthesis leads to cataracts. The authors show that cholesterol biosynthesis regulated by Qki is essential for maintenance of membrane integrity of lens cells and proper protein folding.
- Seula Shin
- , Hao Zhou
- & Jian Hu
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Article
| Open Access
Aberrant TGF-β1 signaling activation by MAF underlies pathological lens growth in high myopia
High myopia is associated with lens changes, but the underlying mechanisms are unclear. Here, the authors show increased equatorial diameter of the lens in subjects affected by high myopia, and find that these changes are associated with an increase in crystallin expression driven by the transcription factor MAF and TGF-β1 signaling.
- Xiangjia Zhu
- , Yu Du
- & Yi Lu
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Article
| Open Access
Cataract-associated P23T γD-crystallin retains a native-like fold in amorphous-looking aggregates formed at physiological pH
Aggregation of eye lens proteins leads to cataracts, a major cause of blindness. Here the authors use solid state NMR to probe the structure of γD-crystallin eye lens proteins aggregates, which are found to retain a native-like conformation.
- Jennifer C. Boatz
- , Matthew J. Whitley
- & Patrick C. A. van der Wel
Cost-effectiveness and cost-utility of a digital technology-driven hierarchical healthcare screening pattern in China