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
Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.
Hallam TM et al.
Immunobiology, 2023
The Rationale of Complement Blockade of the MCPggaac Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review.
Turudic D et al.
International Journal of Molecular Sciences, 2023
Mutations in atypical hemolytic uremic syndrome provide evidence for the role of calcium in complement factor I.
Java A et al.
Blood, 2023
Characteristics, management and outcomes of atypical haemolytic uraemic syndrome in kidney transplant patients: a retrospective national study.
Portoles J et al.
Clinical Kidney Journal, 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
Effect of rare coding variants in the CFI gene on Factor I expression levels.
de Jong S et al.
Human Molecular Genetics, 2020
Diagnostic and Risk Factors for Complement Defects in Hypertensive Emergency and Thrombotic Microangiopathy.
Timmermans SAMEG et al.
Hypertension (dallas, Tex. : 1979), 2020
Genetic analysis of the complement pathway in C3 glomerulopathy.
Zhao W et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2018
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
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
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
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Fidalgo T et al.
Research and Practice in Thrombosis and Haemostasis, 2017
Patients with hypertension-associated thrombotic microangiopathy may present with complement abnormalities.
Timmermans SAMEG 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
Eculizumab for the treatment of an atypical hemolytic uremic syndrome with mutations in complement factor I and C3.
Ferreira E et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 2016
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
Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome.
Bienaime F et al.
Kidney International, 2010
Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I.
Nilsson SC et al.
European Journal of Immunology, 2010
Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome.
Fang CJ et al.
Blood, 2008