Associated Papers
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
Functional evaluation of rare variants in complement factor I using a minigene assay.
Donelson CJH et al.
Frontiers in Immunology, 2024
Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.
Hallam TM et al.
Immunobiology, 2023
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Ophthalmology Science, 2023
Complement-Amplifying Conditions in Atypical Hemolytic Uremic Syndrome: A Canadian Case Series.
Patriquin CJ et al.
Canadian Journal of Kidney Health and Disease, 2022
Complement Factor I Variants in Complement-Mediated Renal Diseases.
Zhang Y et al.
Frontiers in Immunology, 2022
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 Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.
Valoti E et al.
Frontiers in Immunology, 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
The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.
Geerlings MJ et al.
Molecular Immunology, 2017
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
Mutations of complement factor I and potential mechanisms of neuroinflammation in acute hemorrhagic leukoencephalitis.
Broderick L et al.
Journal of Clinical Immunology, 2013
Complement factor I in health and disease.
Nilsson SC et al.
Molecular Immunology, 2011
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.
Noris M et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2010
Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I.
Nilsson SC et al.
European Journal of Immunology, 2010
A novel mutation in complement 2 accompanied by susceptibility variants in C3 glomerulonephritis: A case study.
Han SS et al.
Nefrologia, 0