Associated Papers
C3d-targeted complement inhibitors to correct complement dysregulation in aHUS patients.
Guaschino V et al.
Frontiers in Immunology, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.
Gastoldi S et al.
Frontiers in Immunology, 2023
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Martín Merinero H et al.
Blood, 2021
Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD.
Wong EKS et al.
Frontiers in Immunology, 2020
C5 Convertase Blockade in Membranoproliferative Glomerulonephritis: A Single-Arm Clinical Trial.
Ruggenenti P et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 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
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Osborne AJ et al.
Journal of Immunology (baltimore, Md. : 1950), 2018
Diseases of complement dysregulation-an overview.
Wong EKS et al.
Seminars in Immunopathology, 2018
A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.
Ding Y et al.
Scientific Reports, 2017
Functional Characterization of the Disease-Associated N-Terminal Complement Factor H Mutation W198R.
Cserhalmi M et al.
Frontiers in Immunology, 2017
New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.
Rodriguez E et al.
Bioscience Reports, 2014
Dynamics of complement activation in aHUS and how to monitor eculizumab therapy.
Noris M et al.
Blood, 2014
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
Disease-associated N-terminal complement factor H mutations perturb cofactor and decay-accelerating activities.
Pechtl IC et al.
The Journal of Biological Chemistry, 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
Atypical hemolytic uremic syndrome: update on the complement system and what is new.
Hirt-Minkowski P et al.
Nephron. Clinical Practice, 2010
Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.
de Córdoba SR et al.
Clinical and Experimental Immunology, 2008
Pathogenesis of thrombotic microangiopathies.
Zheng XL et al.
Annual Review of Pathology, 2008
The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.
Saunders RE et al.
Human Mutation, 2007
Complement dysfunction in hemolytic uremic syndrome.
Zipfel PF et al.
Current Opinion in Rheumatology, 2006
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.
Caprioli J et al.
Blood, 2006
An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations.
Saunders RE et al.
Human Mutation, 2006
Atypical haemolytic uraemic syndrome.
Kavanagh D et al.
British Medical Bulletin, 2006
A novel mutation in complement 2 accompanied by susceptibility variants in C3 glomerulonephritis: A case study.
Han SS et al.
Nefrologia, 0