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 …
Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene
D Westra, KA Vernon, EB Volokhina… - Journal of human …, 2012 - nature.com
Atypical hemolytic uremic syndrome (aHUS) is a severe renal disorder that is associated
with mutations in genes encoding proteins of the alternative complement pathway …
with mutations in genes encoding proteins of the alternative complement pathway …
[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 …
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 …
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 …
hemolytic uremic syndrome (aHUS). Numerous genetic studies have been published in …
A novel non-synonymous polymorphism (p. Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired …
AM Blom, F Bergstrom, M Edey… - The Journal of …, 2008 - journals.aai.org
Atypical hemolytic uremic syndrome (aHUS) is a disorder characterized by hemolytic
anemia, thrombocytopenia, and acute renal failure. Mutations, polymorphisms, and copy …
anemia, thrombocytopenia, and acute renal failure. Mutations, polymorphisms, and copy …
Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree
J Esparza-Gordillo, EG de Jorge, CA Garrido… - Molecular …, 2006 - Elsevier
Mutations in the complement regulators factor H, membrane cofactor protein (MCP), and
factor I are associated with atypical hemolytic uremic syndrome (aHUS, MIM 235400) …
factor I are associated with atypical hemolytic uremic syndrome (aHUS, MIM 235400) …
[HTML][HTML] The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome
R Martínez-Barricarte, M Heurich, A López-Perrote… - Molecular …, 2015 - Elsevier
Atypical hemolytic uremic syndrome (aHUS) associates with complement dysregulation
caused by mutations and polymorphisms in complement activators and regulators. However …
caused by mutations and polymorphisms in complement activators and regulators. However …
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 …
Genetic analysis of 400 patients refines understanding and implicates a new gene in atypical hemolytic uremic syndrome
Background Genetic variation in complement genes is a predisposing factor for atypical
hemolytic uremic syndrome (aHUS), a life-threatening thrombotic microangiopathy, however …
hemolytic uremic syndrome (aHUS), a life-threatening thrombotic microangiopathy, however …