Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome
A Servais, V Frémeaux-Bacchi, M Lequintrec… - Journal of medical …, 2007 - jmg.bmj.com
Introduction: Abnormal control of the complement alternative pathway (CAP)(factor H, factor I
and membrane cofactor protein (MCP) deficiencies) is a well established risk factor for the …
and membrane cofactor protein (MCP) deficiencies) is a well established risk factor for the …
Statistical validation of rare complement variants provides insights into the molecular basis of atypical hemolytic uremic syndrome and C3 glomerulopathy
Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are associated
with dysregulation and overactivation of the complement alternative pathway. Typically …
with dysregulation and overactivation of the complement alternative pathway. Typically …
C3 deposition glomerulopathy due to a functional factor H defect
S Habbig, MJ Mihatsch, S Heinen, B Beck… - Kidney …, 2009 - kidney-international.org
CASE PRESENTATION Two female siblings (patient 1: 12 6/12; Patient 2: 7 3/12 years old)
of consanguineous parents, presented with hematuria and proteinuria at five years (Patient …
of consanguineous parents, presented with hematuria and proteinuria at five years (Patient …
[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 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 …
complement regulator membrane co-factor protein (MCP) have been shown to predispose to …
Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome
V Fremeaux-Bacchi, MA Dragon-Durey… - Journal of medical …, 2004 - jmg.bmj.com
METHODS Patients The subjects in this study were patients attending departments of
paediatric and adult nephrology and departments of internal medicine in several university …
paediatric and adult nephrology and departments of internal medicine in several university …
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome
EA Moulton, D Kavanagh, J Blouin… - Journal of the …, 2006 - journals.lww.com
Hemolytic uremic syndrome (HUS) is characterized by the triad of thrombocytopenia,
microangiopathic hemolytic anemia, and acute renal failure. The non–Shiga toxin …
microangiopathic hemolytic anemia, and acute renal failure. The non–Shiga toxin …
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 …
[HTML][HTML] Complete functional characterization of disease-associated genetic variants in the complement factor H gene
HM Merinero, SP García, J García-Fernández… - Kidney international, 2018 - Elsevier
Genetic analyses in atypical hemolytic uremic syndrome (aHUS) and C3-glomerulopathy
(C3G) patients have provided an excellent understanding of the genetic component of the …
(C3G) patients have provided an excellent understanding of the genetic component of the …
Molecular genetics of familial hematuric diseases
C Deltas, A Pierides, K Voskarides - Nephrology Dialysis …, 2013 - academic.oup.com
The familial hematuric diseases are a genetically heterogeneous group of monogenic
conditions, caused by mutations in one of several genes. The major genes involved are the …
conditions, caused by mutations in one of several genes. The major genes involved are the …