A novel atypical hemolytic uremic syndrome–associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H–dependent complement …
E Valoti, M Alberti, A Tortajada… - Journal of the …, 2015 - journals.lww.com
Genomic aberrations affecting the genes encoding factor H (FH) and the five FH-related
proteins (FHRs) have been described in patients with atypical hemolytic uremic syndrome …
proteins (FHRs) have been described in patients with atypical hemolytic uremic syndrome …
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency
Atypical hemolytic uremic syndrome (aHUS) is a severe renal disease that is associated with
defective complement regulation caused by multiple factors. We previously described the …
defective complement regulation caused by multiple factors. We previously described the …
[HTML][HTML] Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics
LM Geerdink, D Westra, JAE van Wijk… - Pediatric …, 2012 - Springer
Background Mutations in complement factor H (CFH), factor I (CFI), factor B (CFB),
thrombomodulin (THBD), C3 and membrane cofactor protein (MCP), and autoantibodies …
thrombomodulin (THBD), C3 and membrane cofactor protein (MCP), and autoantibodies …
Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome
A Richards, MK Liszewski, D Kavanagh, CJ Fang… - Molecular …, 2007 - Elsevier
The hemolytic uremic syndrome is characterized by the triad of microangiopathic hemolytic
anemia, thrombocytopenia and acute renal failure. There are two general types. One occurs …
anemia, thrombocytopenia and acute renal failure. There are two general types. One occurs …
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster …
The efficiency of the complement system as an innate immune defense mechanism depends
on a fine control that restricts its action to pathogens and prevents non-specific damage to …
on a fine control that restricts its action to pathogens and prevents non-specific damage to …
[HTML][HTML] Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome
F Vaziri-Sani, L Holmberg, AG Sjöholm… - Kidney international, 2006 - Elsevier
We investigated the phenotypic expression of factor H mutations in two patients with atypical
hemolytic uremic syndrome (HUS). Factor H in serum was assayed by rocket …
hemolytic uremic syndrome (HUS). Factor H in serum was assayed by rocket …
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 …
Hemolytic uremic syndrome recurrence after renal transplantation
C Loirat, V Fremeaux‐Bacchi - Pediatric transplantation, 2008 - Wiley Online Library
About 60% of non‐Stx‐associated aHUS are due to the defect of protection of endothelial
cells from complement activation, secondary to mutations in the genes of CFH, MCP, IF, BF …
cells from complement activation, secondary to mutations in the genes of CFH, MCP, IF, BF …
[HTML][HTML] Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome
T Manuelian, J Hellwage, S Meri… - The Journal of …, 2003 - Am Soc Clin Investig
Hemolytic uremic syndrome (HUS) is a disease characterized by microangiopathic
hemolytic anemia, thrombocytopenia, and acute renal failure. Recent studies have identified …
hemolytic anemia, thrombocytopenia, and acute renal failure. Recent studies have identified …
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 …