Genetic Risk in Families with Age-Related Macular Degeneration
Purpose: To determine the contribution of common and rare genetic risk variants in families with age-related macular degeneration (AMD). Design: Case-control study.
Anita de Breuk, MD +6 more
doaj +1 more source
Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland [PDF]
Factor H autoantibodies can impair complement regulation, resulting in atypical hemolytic uremic syndrome, predominantly in childhood. There are no trials investigating treatment, and clinical practice is only informed by retrospective cohort ...
Almond, M +23 more
core +1 more source
Complement-Independent Modulation of Influenza A Virus Infection by Factor H
The complement system is an ancient innate immune defense mechanism that can recognize molecular patterns on the invading pathogens. Factor H, as an inhibitor of the alternative pathway, down-regulates complement activation on the host cell surface ...
Valarmathy Murugaiah +11 more
doaj +1 more source
Aged complement factor H knockout mice kept in a clean barriered environment have reduced retinal pathology [PDF]
Age-related macular degeneration (AMD) is the largest cause of visual loss in those over 60 years in the West and is a condition increasing in prevalence.
Hoh Kam, Jaimie +2 more
core +1 more source
Factor H-related proteins (FHRs) are found in mice, but their equivalence to human FHRs remains uncertain. This study identifies three FHRs in mouse plasma (FHR-B, FHR-C, and FHR-E) and focuses on characterizing FHR-B.
Adrián Martín-Ambrosio Doménech +6 more
doaj +1 more source
Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy [PDF]
Complement activation is common in patients with IgA nephropathy (IgAN) and associated with disease severity. Our recent genome-wide association study of IgAN identified susceptibility loci on 1q32 containing the complement regulatory protein-encoding genes CFH and CFHR1-5, with rs6677604 in CFH as the top single-nucleotide polymorphism and CFHR3-1 ...
Li, Zhu +12 more
openaire +2 more sources
Atypical hemolytic uremic syndrome : update on the complement system and what is new [PDF]
Atypical hemolytic uremic syndrome (aHUS) is a rare disease of microangiopathic hemolytic anemia, thrombocytopenia, and predominant renal impairment. It is characterized by the absence of Shiga toxin-producing bacteria as a triggering factor.
Dickenmann, Michael +2 more
core +1 more source
Functional evaluation of complement factor I variants by immunoassays and SDS-PAGE
Factor I (FI) is an essential regulator of the complement system. Together with co-factors, FI degrades C3b, which inhibits further complement activation.
Alexandra Gerogianni +13 more
doaj +1 more source
Human factor H-related protein 2 (CFHR2) regulates complement activation. [PDF]
Mutations and deletions within the human CFHR gene cluster on chromosome 1 are associated with diseases, such as dense deposit disease, CFHR nephropathy or age-related macular degeneration. Resulting mutant CFHR proteins can affect complement regulation.
Hannes U Eberhardt +10 more
doaj +1 more source
Autoantibodies to complement components in C3 glomerulopathy and atypical hemolytic uremic syndrome. [PDF]
The alternative pathway of complement is implicated in the pathogenesis of several renal diseases, such as atypical hemolytic uremic syndrome, dense deposit disease and other forms of C3 glomerulopathy.
Józsi, Mihály +6 more
core +1 more source

