Associated Papers
Disease Progression in Age-Related Macular Degeneration Patients Carrying Rare Variants in the Complement Factor H or Complement Factor I Genes.
Cinque F et al.
Investigative Ophthalmology & Visual Science, 2025
C3d-targeted complement inhibitors to correct complement dysregulation in aHUS patients.
Guaschino V 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
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.
Hallam TM et al.
Immunobiology, 2023
Variants in complement genes are uncommon in patients with anti-factor H autoantibody-associated atypical hemolytic uremic syndrome.
Khandelwal P et al.
Pediatric Nephrology (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
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
C5a and C5aR1 are key drivers of microvascular platelet aggregation in clinical entities spanning from aHUS to COVID-19.
Aiello S et al.
Blood Advances, 2022
Complement Factor I Variants in Complement-Mediated Renal Diseases.
Zhang Y et al.
Frontiers in Immunology, 2022
Genetic Risk in Families with Age-Related Macular Degeneration.
de Breuk A et al.
Ophthalmology Science, 2021
Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.
de Breuk A et al.
Jama Ophthalmology, 2021
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
Functional and Genetic Landscape of Complement Dysregulation Along the Spectrum of Thrombotic Microangiopathy and its Potential Implications on Clinical Outcomes.
Timmermans SAMEG et al.
Kidney International Reports, 2021
Complement Genetic Variants and FH Desialylation in S. pneumoniae-Haemolytic Uraemic Syndrome.
Gómez Delgado I et al.
Frontiers in Immunology, 2021
Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.
de Jong S et al.
Frontiers in Immunology, 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
Diagnostic and Risk Factors for Complement Defects in Hypertensive Emergency and Thrombotic Microangiopathy.
Timmermans SAMEG et al.
Hypertension (dallas, Tex. : 1979), 2020
C5b9 Formation on Endothelial Cells Reflects Complement Defects among Patients with Renal Thrombotic Microangiopathy and Severe Hypertension.
Timmermans SAMEG et al.
Journal of the American Society of Nephrology : Jasn, 2018
De Novo Atypical Haemolytic Uremic Syndrome after Kidney Transplantation.
Devresse A et al.
Case Reports in Nephrology, 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
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
Dynamics of complement activation in aHUS and how to monitor eculizumab therapy.
Noris M et al.
Blood, 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
The role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome.
Szilágyi A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013
A newly identified mutation in the complement factor I gene not associated with early post-transplant recurrence of atypical hemolytic-uremic syndrome: a case report.
Ranghino A et al.
Transplantation Proceedings, 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
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
Bresin E et al.
Journal of the American Society of Nephrology : Jasn, 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