Associated Papers
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
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
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
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Ophthalmology Science, 2023
Complement Factor I Gene Variant in an Atypical Hemolytic Uremic Syndrome Triggered by Hypereosinophilia Syndrome.
Banjongjit A et al.
Nephron, 2023
Functional evaluation of complement factor I variants by immunoassays and SDS-PAGE.
Gerogianni A et al.
Frontiers in Immunology, 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
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.
D'Alterio G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
Khan AH et al.
Human Mutation, 2021
Eculizumab discontinuation in children and adults with atypical hemolytic-uremic syndrome: a prospective multicenter study.
Fakhouri F et al.
Blood, 2021
Neonatal thrombotic microangiopathy secondary to factor I variant with Hirschsprung disease.
Nitzan-Luques A et al.
Journal of Nephrology, 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
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 Glomerulopathy: Ten Years' Experience at Mayo Clinic.
Ravindran A et al.
Mayo Clinic Proceedings, 2018
Diseases of complement dysregulation-an overview.
Wong EKS et al.
Seminars in Immunopathology, 2018
Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.
Malone AF et al.
Pediatric Nephrology (berlin, Germany), 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
Thrombotic microangiopathy without renal involvement: two novel mutations in complement-regulator genes.
Peyvandi F et al.
Journal of Thrombosis and Haemostasis : Jth, 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
Dynamics of complement activation in aHUS and how to monitor eculizumab therapy.
Noris M et al.
Blood, 2014
C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis.
Xiao X et al.
Seminars in Thrombosis and Hemostasis, 2014
Eculizumab in an anephric patient with atypical haemolytic uraemic syndrome and advanced vascular lesions.
Békássy ZD et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013
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
Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.
Fremeaux-Bacchi V et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Mutations of complement factor I and potential mechanisms of neuroinflammation in acute hemorrhagic leukoencephalitis.
Broderick L et al.
Journal of Clinical Immunology, 2013
The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome.
Crovetto F et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2012
C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up.
Sethi S et al.
Kidney International, 2012
Anti-glomerular basement membrane glomerulonephritis and thrombotic microangiopathy in first degree relatives: a case report.
Idorn T et al.
Bmc Nephrology, 2012
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 alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Maga TK et al.
Human Mutation, 2010
Pathogenesis of thrombotic microangiopathies.
Zheng XL et al.
Annual Review of Pathology, 2008