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 …
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 …
Alternative complement pathway assessment in patients with atypical HUS
LT Roumenina, C Loirat, MA Dragon-Durey… - Journal of …, 2011 - Elsevier
The atypical Hemolytic Uremic Syndrome (aHUS) is a rare thrombotic microangiopathy
leading to end stage renal disease in approximately 60% of patients. Over the last decade, a …
leading to end stage renal disease in approximately 60% of patients. Over the last decade, a …
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 …
Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome
Atypical hemolytic uremic syndrome (aHUS) is associated with defective complement
regulation. Disease-associated mutations have been described in the genes encoding the …
regulation. Disease-associated mutations have been described in the genes encoding the …
Atypical hemolytic uremic syndrome, genetic basis, and clinical manifestations
D Kavanagh, THJ Goodship - Hematology 2010, the American …, 2011 - ashpublications.org
Atypical hemolytic uremic syndrome (aHUS) is now well recognized to be a disease
characterized by excessive complement activation in the microvasculature. In both the …
characterized by excessive complement activation in the microvasculature. In both the …
Genetics and complement in atypical HUS
D Kavanagh, T Goodship - Pediatric nephrology, 2010 - Springer
Central to the pathogenesis of atypical hemolytic uremic syndrome (aHUS) is over-activation
of the alternative pathway of complement. Following the initial discovery of mutations in the …
of the alternative pathway of complement. Following the initial discovery of mutations in the …
aHUS caused by complement dysregulation: new therapies on the horizon
AM Waters, C Licht - Pediatric Nephrology, 2011 - Springer
Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disease that is caused by
defective complement regulation in over 50% of cases. Mutations have been identified in …
defective complement regulation in over 50% of cases. Mutations have been identified in …
[HTML][HTML] Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome
F Bienaime, MA Dragon-Durey, CH Regnier… - Kidney international, 2010 - Elsevier
Genetic studies have shown that mutations of complement inhibitors such as membrane
cofactor protein, Factors H, I, or B and C3 predispose patients to atypical hemolytic uremic …
cofactor protein, Factors H, I, or B and C3 predispose patients to atypical hemolytic uremic …
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome
V Frémeaux-Bacchi, EC Miller… - Blood, The Journal …, 2008 - ashpublications.org
Atypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation. In
approximately 50% of patients, mutations have been described in the genes encoding the …
approximately 50% of patients, mutations have been described in the genes encoding the …