Associated Papers
Loss of CFHR5 function reduces the risk for age-related macular degeneration.
Reeve MP et al.
Nature Communications, 2025
Loss of CFHR5 function reduces the risk for age-related macular degeneration.
Reeve MP et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.
Acar IE et al.
Investigative Ophthalmology & Visual Science, 2023
37975850 (PubMed )
Supplement: iovs-64-14-24_s003.xlsx › Supplementary_Table_15
Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.
Iglesias MJ et al.
Nature Communications, 2023
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.
Belkadi A et al.
Cell Genomics, 2023
36777185 (PubMed )
Supplement: mmc5.xlsx › Table_S4
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
36053979 (PubMed )
Supplement: CGE-102-414-s006.xlsx › Blad_1
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.
Sobel Naveh NS et al.
Hepatology Communications, 2022
35507738 (PubMed )
Supplement: HEP4-6-2132-s005.xlsx › Supplemental_Table_1.
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
Lorés-Motta L et al.
American Journal of Human Genetics, 2021
34260947 (PubMed )
Supplement: mmc2.xlsx › ST14
FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.
Garam N et al.
Frontiers in Immunology, 2021
Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation.
Kernan KF et al.
Genes and Immunity, 2019
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.
Bu F et al.
Journal of the American Society of Nephrology : Jasn, 2014
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
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