Complement factor B mutations in atypical hemolytic uremic syndrome—disease-relevant or benign?
MC Marinozzi, L Vergoz, T Rybkine, S Ngo… - Journal of the …, 2014 - journals.lww.com
Atypical hemolytic uremic syndrome (aHUS) is a genetic ultrarare renal disease associated
with overactivation of the alternative pathway of complement. Four gain-of-function …
with overactivation of the alternative pathway of complement. Four gain-of-function …
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome
EG de Jorge, CL Harris… - Proceedings of the …, 2007 - National Acad Sciences
Hemolytic uremic syndrome (HUS) is an important cause of acute renal failure in children.
Mutations in one or more genes encoding complement-regulatory proteins have been …
Mutations in one or more genes encoding complement-regulatory proteins have been …
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype
E Bresin, E Rurali, J Caprioli… - Journal of the …, 2013 - journals.lww.com
Several abnormalities in complement genes reportedly contribute to atypical hemolytic
uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are …
uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are …
Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome
LT Roumenina, M Jablonski, C Hue… - Blood, The Journal …, 2009 - ashpublications.org
Complement is a major innate immune defense against pathogens, tightly regulated to
prevent host tissue damage. Atypical hemolytic uremic syndrome (aHUS) is characterized by …
prevent host tissue damage. Atypical hemolytic uremic syndrome (aHUS) is characterized by …
Comprehensive analysis of complement genes in patients with atypical hemolytic uremic syndrome
T Zhang, J Lu, S Liang, D Chen, H Zhang… - American Journal of …, 2016 - karger.com
Background: Genetic defects in complement proteins reportedly contribute to the atypical
hemolytic uremic syndrome (aHUS). Numerous genetic studies have been published in …
hemolytic uremic syndrome (aHUS). Numerous genetic studies have been published in …
[HTML][HTML] The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome
R Martínez-Barricarte, M Heurich, A López-Perrote… - Molecular …, 2015 - Elsevier
Atypical hemolytic uremic syndrome (aHUS) associates with complement dysregulation
caused by mutations and polymorphisms in complement activators and regulators. However …
caused by mutations and polymorphisms in complement activators and regulators. However …
Genetic analysis of 400 patients refines understanding and implicates a new gene in atypical hemolytic uremic syndrome
Background Genetic variation in complement genes is a predisposing factor for atypical
hemolytic uremic syndrome (aHUS), a life-threatening thrombotic microangiopathy, however …
hemolytic uremic syndrome (aHUS), a life-threatening thrombotic microangiopathy, however …
[HTML][HTML] Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype and outcome
F Schaefer, G Ardissino, G Ariceta, F Fakhouri… - Kidney international, 2018 - Elsevier
Atypical hemolytic uremic syndrome (aHUS) is a rare, genetic, life-threatening disease. The
Global aHUS Registry collects real-world data on the natural history of the disease. Here we …
Global aHUS Registry collects real-world data on the natural history of the disease. Here we …
Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene
D Westra, KA Vernon, EB Volokhina… - Journal of human …, 2012 - nature.com
Atypical hemolytic uremic syndrome (aHUS) is a severe renal disorder that is associated
with mutations in genes encoding proteins of the alternative complement pathway …
with mutations in genes encoding proteins of the alternative complement pathway …
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome
TK Maga, CJ Nishimura, AE Weaver, KL Frees… - Human …, 2010 - Wiley Online Library
Atypical hemolytic uremic syndrome (aHUS) is characterized by acute renal failure,
thrombocytopenia and microangiopathic hemolytic anemia, and occurs with an estimated …
thrombocytopenia and microangiopathic hemolytic anemia, and occurs with an estimated …