Associated Papers
CFH nonsense mutation-mediated pregnancy-associated atypical hemolytic uremic syndrome: Case report.
Hu C et al.
Molecular Immunology, 2025
Kidney Transplantation in Patients With aHUS: A Comparison of Eculizumab Prophylaxis Versus Rescue Therapy.
Duineveld C et al.
Transplantation, 2025
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
Connaughton DM et al.
Journal of Molecular Medicine (berlin, Germany), 2023
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.
Acosta-Medina AA et al.
Blood Advances, 2023
Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.
Fujisawa M et al.
Clinical and Experimental Nephrology, 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
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 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
Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation and IgA Nephropathy: A Case Report Successfully Treated with Eculizumab.
Nakamura H et al.
Nephron, 2018
A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.
Ding Y et al.
Scientific Reports, 2017
Subclinical atypical haemolytic uremic syndrome relapse following discontinuation of eculizumab.
Choo SZ et al.
Nephrology (carlton, Vic.), 2017
Defining the genetics of thrombotic microangiopathies.
Vieira-Martins P et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2016
Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic Syndrome.
Zhang T et al.
American Journal of Nephrology, 2016
Structural basis for sialic acid-mediated self-recognition by complement factor H.
Blaum BS et al.
Nature Chemical Biology, 2015
A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan.
Yoshida Y et al.
Plos One, 2015
Factors determining penetrance in familial atypical haemolytic uraemic syndrome.
Sansbury FH et al.
Journal of Medical Genetics, 2014
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
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.
Bu F et al.
Journal of the American Society of Nephrology : Jasn, 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
Prevalence in the General Population of a CFH Sequence Variant Associated with Atypical Haemolytic Uraemic Syndrome in an Extensive Family from Southwest England.
Hamilton AJ et al.
Nephron Extra, 2013
Structural basis for engagement by complement factor H of C3b on a self surface.
Morgan HP et al.
Nature Structural & Molecular Biology, 2011
Binding of the human complement regulators CFHR1 and factor H by streptococcal collagen-like protein 1 (Scl1) via their conserved C termini allows control of the complement cascade at multiple levels.
Reuter M et al.
The Journal of Biological Chemistry, 2010
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
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
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
Association of a factor H mutation with hemolytic uremic syndrome following a diarrheal illness.
Edey MM et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 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
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
The C-terminus of complement regulator Factor H mediates target recognition: evidence for a compact conformation of the native protein.
Oppermann M et al.
Clinical and Experimental Immunology, 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
Binding of complement factor H to endothelial cells is mediated by the carboxy-terminal glycosaminoglycan binding site.
Jokiranta TS et al.
The American Journal of Pathology, 2005
[Development and application of a new ADAMTS13 assay for TTP diagnosis].
Kokame K et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005
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
Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome.
Manuelian T et al.
The Journal of Clinical Investigation, 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
The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.
Caprioli J et al.
Journal of the American Society of Nephrology : Jasn, 2001
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