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
38852887 (PubMed )
Supplement: mmc1.docx
Complement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?
Günay N et al.
Pediatric Nephrology (berlin, Germany), 2024
Functional evaluation of rare variants in complement factor I using a minigene assay.
Donelson CJH et al.
Frontiers in Immunology, 2024
39238643 (PubMed )
Supplement: Datasheet1.pdf
Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.
Hallam TM et al.
Immunobiology, 2023
Early relapse of atypical hemolytic uremic syndrome following ABO-incompatible living-related pediatric kidney re-transplant successfully treated with eculizumab.
Stojanovic J et al.
Pediatric Nephrology (berlin, Germany), 2021
Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
Khan AH et al.
Human Mutation, 2021
Effect of rare coding variants in the CFI gene on Factor I expression levels.
de Jong S et al.
Human Molecular Genetics, 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
29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › CFI
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
27939104 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.
Gleeson PJ et al.
Immunobiology, 2016
Complement factor I in health and disease.
Nilsson SC et al.
Molecular Immunology, 2011
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
Moore I et al.
Blood, 2010
Select a paper to view details