|
C3 glomerulopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The data also reinforce the genotype-phenotype correlations that associate specific FH functional alterations with either aHUS or C3G and illustrate important drawbacks of the prediction algorithms dealing with variants located in FH functional regions.
|
28941939 |
2018 |
|
C3 glomerulopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
It is the first reported case in Iran with multiple mutations in complement factor H, with one of these mutations we have expected in hemolytic uremic syndrome rather than C3 glomerulopathy Genetic analysis showed that the molecular abnormalities of factor H led to complement factor H malfunction that were polymorphous and not restricted to the C-terminal domains of the protein.
|
30595568 |
2018 |
|
C3 glomerulopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Anti-P mAb-treated FH<sup>R/R</sup> mice showed largely normal renal histology, and residual liver thrombi were detected in only three of 15 treated mice.<b>Conclusions</b> These results contrast with the detrimental effect of P inhibition observed in a murine model of C3 glomerulopathy and suggest that P contributes critically to aHUS pathogenesis.
|
29858280 |
2018 |
|
C3 glomerulopathy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Disease severity in these factor H/properdin double-mutant mice was found to be correlated with plasma C5 levels, and prophylactic anti-C5 mAb therapy was effective in preventing lethal C3 glomerulopathy.
|
28139294 |
2017 |
|
C3 glomerulopathy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, injection of moss-derived factor H reduced C3 deposition and increased serum C3 levels in a murine model of C3 glomerulopathy.
|
27932477 |
2017 |
|
C3 glomerulopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we screened 11 complement genes from 91 patients with atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy (C3G) and membranoproliferative glomerulonephritis type I (MPGN I), and identified the concomitant presence of three missense variations located within the human complement Factor H (CFH) gene cluster.
|
28729648 |
2017 |
|
C3 glomerulopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
IgG from patients with anti-C3b Abs stabilized C3bBb and perturbed C3b binding to complement receptor 1 but did not perturb binding to factor H. In conclusion, the prevalence of anti-C3b/anti-FB Abs and alternative pathway activation is similar in Ig-MPGN and C3G, suggesting similar pathogenic mechanisms.
|
28096309 |
2017 |
|
C3 glomerulopathy
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reclassification of membranoproliferative glomerulonephritis: Identification of a new GN: C3GN.
|
27458560 |
2016 |
|
C3 glomerulopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The complement factor H (FH) mutation R1210C, which was described in association with atypical hemolytic uremic syndrome (aHUS), also confers high risk of age-related macular degeneration (AMD) and associates with C3 glomerulopathy (C3G).
|
26376859 |
2016 |
|
C3 glomerulopathy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The presence of mutations alone does not significantly increase the risk of Ig-MPGN or C3G, but it does so when combined with common susceptibility variants (CD46 c.-366A in Ig-MPGN; CFH V62 and THBD A473 in C3G).
|
26895476 |
2016 |
|
C3 glomerulopathy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
These data highlight the role of factor H related proteins in the control of complement activity and illustrate how perturbation of that control leads to C3G.
|
27490940 |
2016 |
|
C3 glomerulopathy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Human C3 glomerulopathy provides unique insights into complement factor H-related protein function.
|
23728171 |
2013 |
|
C3 glomerulopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent linkage studies in familial C3 glomerulopathy have shown genomic rearrangements in the Cfh-related genes, for which the novel pathophysiologic concept of Cfh deregulation has been proposed.
|
24161036 |
2013 |
|
C3 glomerulopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Thus, in fH mutation-related C3 glomerulopathy, additional factors that impact the activation of the alternative pathway of complement critically determine the nature and severity of kidney pathology.
|
23204401 |
2013 |
|
C3 glomerulopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A mutation in CFHR5, a member of the complement factor H family of genes that regulate complement activation, was recently shown to cause isolated C3 glomerulopathy, presenting with MH in childhood and demonstrating a significant risk for CKD/ESKD after 40 years old.
|
21688191 |
2012 |