Associated Papers
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
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
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Ophthalmology Science, 2023
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
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
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
C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab.
Garg N et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2018
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
C3 glomerulonephritis and thrombotic microangiopathy of renal allograft after pulmonary infection in a male with concomitant two complement factor I gene variations: a case report.
Wen J et al.
Bmc Nephrology, 2018
Diseases of complement dysregulation-an overview.
Wong EKS et al.
Seminars in Immunopathology, 2018
Hemolytic Uremic Syndrome in Pregnancy and Postpartum.
Bruel A et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2017
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 genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.
Kavanagh D et al.
Human Molecular Genetics, 2015
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