Associated Papers
Disease Progression in Age-Related Macular Degeneration Patients Carrying Rare Variants in the Complement Factor H or Complement Factor I Genes.
Cinque F et al.
Investigative Ophthalmology & Visual Science, 2025
Kidney Transplantation in Patients With aHUS: A Comparison of Eculizumab Prophylaxis Versus Rescue Therapy.
Duineveld C et al.
Transplantation, 2025
The role of complement factor I rare genetic variants in age related macular degeneration in Finland.
Andreadi A et al.
Human Molecular Genetics, 2025
High prevalence of the hotspot complement factor I p.Ile357Met pathogenic variant in Tunisian atypical hemolytic uremic syndrome patients: report of three new cases and review of the literature.
Tajouri A et al.
Frontiers in Immunology, 2025
Genetic Insights into Age-Related Macular Degeneration.
Bhumika et al.
Biomedicines, 2024
Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort.
Hallam TM et al.
The Journal of Biological Chemistry, 2024
The spectrum of thrombotic microangiopathy related to monoclonal gammopathy.
van Doorn DPC et al.
Clinical Kidney Journal, 2024
Functional evaluation of rare variants in complement factor I using a minigene assay.
Donelson CJH et al.
Frontiers in Immunology, 2024
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes.
Fan Q et al.
Nature Communications, 2023
Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.
Hallam TM et al.
Immunobiology, 2023
Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
Connaughton DM et al.
Journal of Molecular Medicine (berlin, Germany), 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Ophthalmology Science, 2023
Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome.
Glover EK et al.
Transplantation, 2023
Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.
Rodríguez de Córdoba S
Immunological Reviews, 2023
Systems genomics in age-related macular degeneration.
den Hollander AI et al.
Experimental Eye Research, 2022
Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank.
Tzoumas N et al.
Human Molecular Genetics, 2022
Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.
Farinha C et al.
Investigative Ophthalmology & Visual Science, 2022
Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.
de Jong S et al.
Stem Cell Research, 2022
Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.
de Jong S et al.
Stem Cell Research, 2022
Evaluating a Causal Relationship between Complement Factor I Protein Level and Advanced Age-Related Macular Degeneration Using Mendelian Randomization.
Jones AV et al.
Ophthalmology Science, 2022
Atypical haemolytic uraemic syndrome in a child with cystic fibrosis.
Wong MD et al.
Journal of Paediatrics and Child Health, 2022
An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.
Jones AV et al.
Plos One, 2022
Genetic Risk in Families with Age-Related Macular Degeneration.
de Breuk A et al.
Ophthalmology Science, 2021
Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.
Acar IE et al.
Journal of Personalized Medicine, 2021
Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
Khan AH et al.
Human Mutation, 2021
Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.
de Jong S et al.
Frontiers in Immunology, 2021
Effect of rare coding variants in the CFI gene on Factor I expression levels.
de Jong S et al.
Human Molecular Genetics, 2020
Functional Analysis of Rare Genetic Variants in Complement Factor I (CFI) using a Serum-Based Assay in Advanced Age-related Macular Degeneration.
Java A et al.
Translational Vision Science & Technology, 2020
Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration.
Hallam TM et al.
Investigative Ophthalmology & Visual Science, 2020
NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future.
Wright C et al.
Translational Vision Science & Technology, 2020
Complement Factor I Gene Polymorphism in a Turkish Age-Related Macular Degeneration Population.
Bezci Aygun F et al.
Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2020
Prospective Application of Activity-Based Proteomic Profiling in Vision Research-Potential Unique Insights into Ocular Protease Biology and Pathology.
Peng H et al.
International Journal of Molecular Sciences, 2019
Association of polymorphisms of complement factor I rs141853578 (G119R) with age-related macular degeneration in Iranian population.
Bonyadi M et al.
International Ophthalmology, 2019
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
Geerlings MJ et al.
Clinical Genetics, 2018
Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.
Lorés-Motta L et al.
Ophthalmology, 2018