Associated Papers
The Inhibitory Effects of a Factor B-Binding DNA Aptamer Family Supersede the Gain of Function of Factor B Variants Associated with Atypical Hemolytic Uremic Syndrome.
Duan H et al.
Journal of Immunology (baltimore, Md. : 1950), 2024
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.
Acosta-Medina AA et al.
Blood Advances, 2023
Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.
Rodríguez de Córdoba S
Immunological Reviews, 2023
Novel Complement Factor B Gene Mutation Identified in a Kidney Transplant Recipient with a Shiga Toxin-Triggered Episode of Thrombotic Microangiopathy.
Korzycka J et al.
The American Journal of Case Reports, 2022
Functional variant rs12614 in CFB confers a low risk of IgA nephropathy by attenuating complement alternative pathway activation in Han Chinese.
Shi DC et al.
Frontiers in Immunology, 2022
Functional Hemolytic Test for Complement Alternative Pathway Convertase Activity.
Michels MAHM et al.
Methods in Molecular Biology (clifton, N.j.), 2021
Case Report: Combined Liver-Kidney Transplantation to Correct a Mutation in Complement Factor B in an Atypical Hemolytic Uremic Syndrome Patient.
López-Trascasa M et al.
Frontiers in Immunology, 2021
Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndrome.
Zhang Y et al.
Kidney International, 2020
Atypical hemolytic uremic syndrome associated with a factor B genetic variant and fluid-phase complement activation: an exception to the rule?
Noris M et al.
Kidney International, 2020
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson PC et al.
Kidney360, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Gain of function mutant of complement factor B K323E mimics pathogenic C3NeF autoantibodies in convertase assays.
Urban A et al.
Autoimmunity, 2018
Overactivity of Alternative Pathway Convertases in Patients With Complement-Mediated Renal Diseases.
Michels MAHM et al.
Frontiers in Immunology, 2018
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
Diabetic ketoacidosis presenting with atypical hemolytic uremic syndrome associated with a variant of complement factor B in an adult: a case report.
Zhu Z et al.
Journal of Medical Case Reports, 2016
The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.
Phillips EH et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
Complement activation patterns in atypical haemolytic uraemic syndrome during acute phase and in remission.
Volokhina EB et al.
Clinical and Experimental Immunology, 2015
Familial C3 glomerulonephritis associated with mutations in the gene for complement factor B.
Imamura H et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2015
Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B.
Gilbert RD et al.
Pediatric Nephrology (berlin, Germany), 2013
Lessons from functional and structural analyses of disease-associated genetic variants in the complement alternative pathway.
Rodríguez de Córdoba S et al.
Biochimica Et Biophysica Acta, 2011
Genetics and complement in atypical HUS.
Kavanagh D et al.
Pediatric Nephrology (berlin, Germany), 2010
A novel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome.
Tawadrous H et al.
Pediatric Nephrology (berlin, Germany), 2010
Advances in understanding of pathogenesis of aHUS and HELLP.
Fang CJ et al.
British Journal of Haematology, 2008
Pathogenesis of thrombotic microangiopathies.
Zheng XL et al.
Annual Review of Pathology, 2008
Update on evaluating complement in hemolytic uremic syndrome.
Kavanagh D et al.
Current Opinion in Nephrology and Hypertension, 2007
Complement hyperactivation may cause atypical haemolytic uraemic syndrome--gain-of-function mutations in factor B.
Caprioli J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2007
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.
Goicoechea de Jorge E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review.
Chhakchhuak M et al.
Indian Journal of Nephrology, 0
A Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and Systematic Review.
Peng W et al.
Case Reports in Nephrology and Dialysis, 0