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
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
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
Modeling C3 glomerulopathies: C3 convertase regulation on an extracellular matrix surface.
Pisarenka S et al.
Frontiers in Immunology, 2022
Is the atypical hemolytic uremic syndrome risk polymorphism in Membrane Cofactor Protein MCPggaac relevant in kidney transplantation? A case report.
Sánchez-Moreno A et al.
Pediatric Transplantation, 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
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
A complement factor B mutation in a large kindred with atypical hemolytic uremic syndrome.
Funato M et al.
Journal of Clinical Immunology, 2014
Eculizumab in an anephric patient with atypical haemolytic uraemic syndrome and advanced vascular lesions.
Békássy ZD et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013
Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome.
Feng S et al.
Blood, 2013
Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.
Bu F et al.
Clinical & Developmental Immunology, 2012
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