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
[Clinical characteristics and genetic profile of complement system in renal thrombotic microangiopathy in patients with severe forms of arterial hypertension].
Akaeva MI et al.
Terapevticheskii Arkhiv, 2024
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
Evaluation of the significance of complement-related genes mutations in atypical postinfectious glomerulonephritis: a pilot study.
Xu F et al.
International Urology and Nephrology, 2024
Functional evaluation of rare variants in complement factor I using a minigene assay.
Donelson CJH et al.
Frontiers in Immunology, 2024
Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.
Hallam TM et al.
Immunobiology, 2023
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
A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration.
Hallam TM et al.
Frontiers in Immunology, 2022
Genetic Risk in Families with Age-Related Macular Degeneration.
de Breuk A et al.
Ophthalmology Science, 2021
Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.
Acar IE et al.
Journal of Personalized Medicine, 2021
FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.
Garam N 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
Thinking Beyond HLH: Clinical Features of Patients with Concurrent Presentation of Hemophagocytic Lymphohistiocytosis and Thrombotic Microangiopathy.
Gloude NJ et al.
Journal of Clinical Immunology, 2020
Acute dilated cardiomyopathy in the setting of catastrophic antiphospholipid syndrome and thrombotic microangiopathy: A case series and review.
Hermel M et al.
Ejhaem, 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
Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy.
Aigner C et al.
Journal of Clinical Medicine, 2020
Molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uraemic syndrome patients.
Jlajla H et al.
Nephrology (carlton, Vic.), 2019
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
Overactivity of Alternative Pathway Convertases in Patients With Complement-Mediated Renal Diseases.
Michels MAHM et al.
Frontiers in Immunology, 2018
Acquired Complement Regulatory Gene Mutations and Hematopoietic Stem Cell Transplant-Related Thrombotic Microangiopathy.
Ardissino G et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 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
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
A hypervariable STR polymorphism in the CFI gene: southern origin of East Asian-specific group H alleles.
Yuasa I et al.
Legal Medicine (tokyo, Japan), 2013
Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome.
Fan X et al.
Molecular Immunology, 2013
A hypervariable STR polymorphism in the complement factor I (CFI) gene: Asian-specific alleles.
Yuasa I et al.
International Journal of Legal Medicine, 2011
[Clinicomorphological characteristics of renal disorders in patients with genetic thrombophilia].
Kozlovskaia NL et al.
Terapevticheskii Arkhiv, 2009
Molecular basis of complement factor I (CFI) polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific.
Yuasa I et al.
Journal of Human Genetics, 2008