Associated Papers
Structural characterization of Factor H via computational methods: Implications for disease and therapy.
Jena AB et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025
Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome.
Ni J et al.
Pediatric Nephrology (berlin, Germany), 2025
The human factor H protein family - an update.
Sándor N et al.
Frontiers in Immunology, 2024
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
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.
Liu Y et al.
Frontiers in Genetics, 2021
Clinicopathologic Implications of Complement Genetic Variants in Kidney Transplantation.
Ren Z et al.
Frontiers in Medicine, 2021
Potentiation of complement regulator factor H protects human endothelial cells from complement attack in aHUS sera.
Pouw RB et al.
Blood Advances, 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
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.
Cantsilieris S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
FHR-1 Binds to C-Reactive Protein and Enhances Rather than Inhibits Complement Activation.
Csincsi ÁI et al.
Journal of Immunology (baltimore, Md. : 1950), 2017
Disturbed sialic acid recognition on endothelial cells and platelets in complement attack causes atypical hemolytic uremic syndrome.
Hyvärinen S et al.
Blood, 2016
Mutations in Complement Factor H Impair Alternative Pathway Regulation on Mouse Glomerular Endothelial Cells in Vitro.
Loeven MA et al.
The Journal of Biological Chemistry, 2016
Mapping the Complement Factor H-Related Protein 1 (CFHR1):C3b/C3d Interactions.
Hannan JP et al.
Plos One, 2016
The major autoantibody epitope on factor H in atypical hemolytic uremic syndrome is structurally different from its homologous site in factor H-related protein 1, supporting a novel model for induction of autoimmunity in this disease.
Bhattacharjee A et al.
The Journal of Biological Chemistry, 2015
A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.
Valoti E et al.
Journal of the American Society of Nephrology : Jasn, 2015
Structural basis for sialic acid-mediated self-recognition by complement factor H.
Blaum BS et al.
Nature Chemical Biology, 2015
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
Recognition of malondialdehyde-modified proteins by the C terminus of complement factor H is mediated via the polyanion binding site and impaired by mutations found in atypical hemolytic uremic syndrome.
Hyvärinen S et al.
The Journal of Biological Chemistry, 2014
An engineered construct combining complement regulatory and surface-recognition domains represents a minimal-size functional factor H.
Hebecker M et al.
Journal of Immunology (baltimore, Md. : 1950), 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
Atypical hemolytic uremic syndrome-associated variants and autoantibodies impair binding of factor h and factor h-related protein 1 to pentraxin 3.
Kopp A et al.
Journal of Immunology (baltimore, Md. : 1950), 2012
Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome.
Kavanagh D et al.
Kidney International, 2012
Atypical hemolytic uremic syndrome.
Loirat C et al.
Orphanet Journal of Rare Diseases, 2011
Factor H-related protein 1 neutralizes anti-factor H autoantibodies in autoimmune hemolytic uremic syndrome.
Strobel S et al.
Kidney International, 2011
Structural basis for engagement by complement factor H of C3b on a self surface.
Morgan HP et al.
Nature Structural & Molecular Biology, 2011
Genetics and complement in atypical HUS.
Kavanagh D et al.
Pediatric Nephrology (berlin, Germany), 2010
Maintenance of kidney function following treatment with eculizumab and discontinuation of plasma exchange after a third kidney transplant for atypical hemolytic uremic syndrome associated with a CFH mutation.
Davin JC et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2010
Atypical hemolytic uremic syndrome: update on the complement system and what is new.
Hirt-Minkowski P et al.
Nephron. Clinical Practice, 2010
Mutations of factor H impair regulation of surface-bound C3b by three mechanisms in atypical hemolytic uremic syndrome.
Lehtinen MJ et al.
The Journal of Biological Chemistry, 2009
The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.
Ferreira VP et al.
Journal of Immunology (baltimore, Md. : 1950), 2009
Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation.
Davin JC et al.
Pediatric Nephrology (berlin, Germany), 2008
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
Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome.
Sellier-Leclerc AL et al.
Journal of the American Society of Nephrology : Jasn, 2007
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
Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic uremic syndrome.
Jokiranta TS et al.
The Embo Journal, 2006
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.
Heinen S et al.
Human Mutation, 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
Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions.
Józsi M et al.
Journal of the American Society of Nephrology : Jasn, 2006
Atypical haemolytic uraemic syndrome.
Kavanagh D et al.
British Medical Bulletin, 2006
The human complement factor H: functional roles, genetic variations and disease associations.
Rodríguez de Córdoba S et al.
Molecular Immunology, 2004
Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.
Caprioli J et al.
Human Molecular Genetics, 2003
Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome.
Sánchez-Corral P et al.
American Journal of Human Genetics, 2002
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.
Pérez-Caballero D et al.
American Journal of Human Genetics, 2001