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This project identifies and quantitates Hydroxyapatite binding proteins (HAP) in plasma genotyped for complement factor H (CFH) polymorphism in late stage age-related macular degeneration (AMD) patients by sequential window acquisition of all theoretical mass spectra (SWATH). This study provides ins...
ORGANISM(S): Homo sapiens (Human) 
2018-03-28 | PXD007944 | Pride
This dataset represent supplemental data for publication submitted to Human Molecular Genetics in 2022. Briefly, Efemp1 R345W is a protein misfolding-prone mutation in humans causing Doyne honeycomb retinal dystrophy/Mallatia Leventinese (DHRD/ML), a disease sharing similar clinical pathology with ...
ORGANISM(S): Mus musculus (Mouse) 
2023-03-11 | PXD035772 | Pride
Complement Factor H (CFH) common genetic variants have been associated with age-related macular degeneration (AMD). While most previous in vitro RPE studies focused on the common p.His402Tyr CFH variant, we characterized rare CFH variants that are highly penetrant for AMD using induced pluripotent s...
ORGANISM(S): Homo sapiens 
2024-12-02 | GSE275494 | GEO
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