[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 …

A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation

SC Nilsson, D Karpman, F Vaziri-Sani… - Molecular …, 2007 - Elsevier
Factor I (FI) is the major complement inhibitor that degrades C3b and C4b in the presence of
cofactors such as factor H (FH) and membrane cofactor protein (MCP). Recently, mutations …

Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome

D Kavanagh, EJ Kemp, E Mayland… - Journal of the …, 2005 - journals.lww.com
Mutations in the plasma complement regulator factor H (CFH) and the transmembrane
complement regulator membrane co-factor protein (MCP) have been shown to predispose to …

Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome

AL Sellier-Leclerc, V Fremeaux-Bacchi… - Journal of the …, 2007 - journals.lww.com
Mutations in factor H (CFH), factor I (IF), and membrane cofactor protein (MCP) genes have
been described as risk factors for atypical hemolytic uremic syndrome (aHUS). This study …

Screening for complement system abnormalities in patients with atypical hemolytic uremic syndrome

D Kavanagh, A Richards… - Clinical Journal of the …, 2007 - journals.lww.com
The past decade has seen the identification of mutations in the genes for complement factor
H (CFH)(1–6), membrane co-factor protein (MCP)(7–12), and factor I (CFI)(9, 13–15) as …

Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I

SC Nilsson, N Kalchishkova, LA Trouw… - European journal of …, 2010 - Wiley Online Library
The complement system is regulated by inhibitors such as factor I (FI), a serine protease that
degrades activated complement factors C4b and C3b in the presence of specific cofactors …

A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal …

K Lhotta, AR Janecke, J Scheiring… - Clinical Journal of the …, 2009 - journals.lww.com
Background and objectives: Atypical hemolytic uremic syndrome (aHUS) is associated with
mutations in genes encoding complement-regulatory proteins factor H, I and B and …

Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome

D Kavanagh, A Richards, M Noris, R Hauhart… - Molecular …, 2008 - Elsevier
Recent studies have identified mutations in the complement regulatory gene factor I (CFI)
that predispose to atypical hemolytic uremic syndrome (aHUS). CFI is a two-chain serine …

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 …

The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome

R Martinez-Barricarte, G Pianetti… - Journal of the …, 2008 - journals.lww.com
Mutations in the gene encoding complement factor H (CFH) that alter the C3b/polyanions-
binding site in the C-terminal region impair the capacity of factor H to protect host cells …