Associated Papers
The human factor H protein family - an update.
Sándor N et al.
Frontiers in Immunology, 2024
An Evaluation of the Complement-Regulating Activities of Human Complement Factor H (FH) Variants Associated With Age-Related Macular Degeneration.
Biggs RM et al.
Investigative Ophthalmology & Visual Science, 2022
Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy.
Haydock L et al.
Journal of Molecular Medicine (berlin, Germany), 2022
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Martín Merinero H et al.
Blood, 2021
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
Lorés-Motta L et al.
American Journal of Human Genetics, 2021
Unraveling the Effect of a Potentiating Anti-Factor H Antibody on Atypical Hemolytic Uremic Syndrome-Associated Factor H Variants.
Dekkers G et al.
Journal of Immunology (baltimore, Md. : 1950), 2020
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
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
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
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
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
Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.
Bu F et al.
Clinical & Developmental Immunology, 2012
Structural basis for engagement by complement factor H of C3b on a self surface.
Morgan HP et al.
Nature Structural & Molecular Biology, 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
Impact of compound heterozygous complement factor H mutations on development of atypical hemolytic uremic syndrome-A pedigree revisited.
Johnson SA et al.
Molecular Immunology, 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
Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome.
Richards A et al.
Molecular Immunology, 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