Associated Papers
Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome.
Ni J et al.
Pediatric Nephrology (berlin, Germany), 2025
A mutant complement factor H (W1183R) enhances proteolytic cleavage of von Willebrand factor by ADAMTS-13 under shear.
Cao W et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
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
Clinical and Genetic Characteristics of Atypical Hemolytic Uremic Syndrome in Children: A Chinese Cohort Study.
Wu D et al.
Nephron, 2021
Murine Factor H Co-Produced in Yeast With Protein Disulfide Isomerase Ameliorated C3 Dysregulation in Factor H-Deficient Mice.
Kerr H et al.
Frontiers in Immunology, 2021
Differential contribution of C5aR and C5b-9 pathways to renal thrombic microangiopathy and macrovascular thrombosis in mice carrying an atypical hemolytic syndrome-related factor H mutation.
Ueda Y et al.
Kidney International, 2019
Complement Factor H Mutation W1206R Causes Retinal Thrombosis and Ischemic Retinopathy in Mice.
Song D et al.
The American Journal of Pathology, 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
Kidney Transplantation in Patients with Atypical Hemolytic Uremic Syndrome due to Complement Factor H Deficiency: Impact of Liver Transplantation.
Kim S et al.
Journal of Korean Medical Science, 2018
Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation.
Ueda Y et al.
Blood, 2017
A Familial C3GN Secondary to Defective C3 Regulation by Complement Receptor 1 and Complement Factor H.
Chauvet S et al.
Journal of the American Society of Nephrology : Jasn, 2016
Mapping the Complement Factor H-Related Protein 1 (CFHR1):C3b/C3d Interactions.
Hannan JP et al.
Plos One, 2016
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
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.
Loirat C et al.
Orphanet Journal of Rare Diseases, 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
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
Severe atypical HUS caused by CFH S1191L--case presentation and review of treatment options.
De S et al.
Pediatric Nephrology (berlin, Germany), 2010
Atypical hemolytic uremic syndrome: update on the complement system and what is new.
Hirt-Minkowski P et al.
Nephron. Clinical Practice, 2010
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
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
Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic uremic syndrome.
Jokiranta TS et al.
The Embo Journal, 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
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