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Author

Bin Guan

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Review Open access Aug 2026

Phenotype variability in six new patients with beta-mannosidosis.

Analysis of six new cases of beta-mannosidosis highlights marked phenotypic variability with no clear genotype-phenotype correlation and early screening may enable prompt diagnosis, improve management, and support future therapeutic development.

Madelyn Olivas, C.N. Romano, Angela Martin et al. · 0 citations
Open access Jul 2026

A peripheral subpopulation of retinal pigment epithelium resists oxidative damage through SERPINE3-mediated caspase-1 inhibition

A peripheral RPE subpopulation is identified through spatial, transcriptomic, and functional analyses, thereby contributing to the understanding of the heterogeneity of degenerative RPE cells and highlighting SERPINE3 as a protective factor with therapeutic potential for macular atrophy.

Hui-Rong Li, Takerra K. Johnson-Stephenson, Vincent P. Kunze et al. · 0 citations

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