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
Shiga toxin-producing Escherichia coli infection as a precipitating factor for atypical hemolytic-uremic syndrome.
Mortari G et al.
Pediatric Nephrology (berlin, Germany), 2025
Late Onset Thrombotic Microangiopathy in Kidney Transplants; Poor Outcome Despite Eculizumab Treatment.
Glover EK et al.
Transplant International : Official Journal of the European Society for Organ Transplantation, 2025
Analysis of Complement Factor H gene polymorphisms and their association with clinical manifestations ofleptospirosis.
Santiesteban-Lores LE et al.
Immunogenetics, 2024
Ex vivo C5b-9 Deposition Test to Monitor Complement Activity in Clinical and Subclinical Atypical Hemolytic Uremic Syndrome and in Transplantation-Associated Thrombotic Microangiopathy.
Martin M et al.
Kidney International Reports, 2024
The human factor H protein family - an update.
Sándor N et al.
Frontiers in Immunology, 2024
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
Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome.
Glover EK et al.
Transplantation, 2023
HUS with mutations in CFH and STEC infection treated with eculizumab in a 4-year-old girl.
Galvez C et al.
Pediatric Nephrology (berlin, Germany), 2023
Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.
Rodríguez de Córdoba S
Immunological Reviews, 2023
An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.
Gastoldi S et al.
Frontiers in Immunology, 2023
Recurrent microangiopathic hemolysis after recovery from complement-mediated hemolytic uremia syndrome during chemotherapy for a CFH-mutated patient with T-lymphoblastic lymphoma.
Lee FW et al.
International Journal of Hematology, 2022
Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome: A Swedish retrospective observational study.
Åkesson A et al.
Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2021
Familial Atypical Hemolytic Uremic Syndrome with Positive p.S1191L (c.3572C>T) Mutation on the CFH Gene: A Single-center Experience.
Ersoy Dursun F et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy.
Aigner C et al.
Journal of Clinical Medicine, 2020
Case Report: Variable Pharmacokinetic Profile of Eculizumab in an aHUS Patient.
Bouwmeester RN et al.
Frontiers in Immunology, 2020
Potentiation of complement regulator factor H protects human endothelial cells from complement attack in aHUS sera.
Pouw RB et al.
Blood Advances, 2019
Pathogenesis of Atypical Hemolytic Uremic Syndrome.
Yoshida Y et al.
Journal of Atherosclerosis and Thrombosis, 2019
Biophysical analysis of sialic acid recognition by the complement regulator Factor H.
Schmidt CQ et al.
Glycobiology, 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
An Engineered Complement Factor H Construct for Treatment of C3 Glomerulopathy.
Yang Y et al.
Journal of the American Society of Nephrology : Jasn, 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
Diseases of complement dysregulation-an overview.
Wong EKS et al.
Seminars in Immunopathology, 2018
Midterm Outcomes of 12 Renal Transplant Recipients Treated With Eculizumab to Prevent Atypical Hemolytic Syndrome Recurrence.
Levi C et al.
Transplantation, 2017
Disease-linked mutations in factor H reveal pivotal role of cofactor activity in self-surface-selective regulation of complement activation.
Kerr H et al.
The Journal of Biological Chemistry, 2017
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
Influence of CFH gene on symptom severity of schizophrenia.
Zhang C et al.
Neuropsychiatric Disease and Treatment, 2017
Disturbed sialic acid recognition on endothelial cells and platelets in complement attack causes atypical hemolytic uremic syndrome.
Hyvärinen S et al.
Blood, 2016
Complement genetics and susceptibility to inflammatory disease. Lessons from genotype-phenotype correlations.
de Córdoba SR
Immunobiology, 2016
A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome.
Challis RC et al.
Journal of the American Society of Nephrology : Jasn, 2016
Complement factor H and susceptibility to major depressive disorder in Han Chinese.
Zhang C et al.
The British Journal of Psychiatry : the Journal of Mental Science, 2016
Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.
Szarvas N et al.
Molecular Immunology, 2016
Eculizumab is a safe and effective treatment in pediatric patients with atypical hemolytic uremic syndrome.
Greenbaum LA et al.
Kidney International, 2016
Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients.
Mohlin FC et al.
Molecular Immunology, 2015
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
Structural basis for sialic acid-mediated self-recognition by complement factor H.
Blaum BS et al.
Nature Chemical Biology, 2015
An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document.
Campistol JM et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 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
Mapping genetic variants in the CFH gene for association with leprosy in Han Chinese.
Zhang DF et al.
Genes and Immunity, 2014
Atypical HUS associated with severe, unexpected antibody-mediated rejection post kidney transplant.
Stevenson S et al.
Nephrology (carlton, Vic.), 2014
Eculizumab long-term therapy for pediatric renal transplant in aHUS with CFH/CFHR1 hybrid gene.
Román-Ortiz E et al.
Pediatric Nephrology (berlin, Germany), 2014
Complement therapy in atypical haemolytic uraemic syndrome (aHUS).
Wong EK et al.
Molecular Immunology, 2013
Complement factor H related proteins (CFHRs).
Skerka C et al.
Molecular Immunology, 2013