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
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
Complement Factor I Gene Variant as a Treatable Cause of Recurrent Aseptic Neutrophilic Meningitis: A Case Report.
Rolfes M et al.
Neurology(r) Neuroimmunology & Neuroinflammation, 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
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
Complement Factor I Variants in Complement-Mediated Renal Diseases.
Zhang Y et al.
Frontiers in Immunology, 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
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
Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland.
Brocklebank V et al.
Kidney International, 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
Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.
Tan PL et al.
Investigative Ophthalmology & Visual Science, 2017
Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.
Gleeson PJ et al.
Immunobiology, 2016
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
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
Mutations of complement factor I and potential mechanisms of neuroinflammation in acute hemorrhagic leukoencephalitis.
Broderick L et al.
Journal of Clinical Immunology, 2013
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Maga TK et al.
Human Mutation, 2010