[HTML][HTML] Implications of genetic variation in the complement system in age-related macular degeneration

S de Jong, G Gagliardi, A Garanto, A de Breuk… - Progress in Retinal and …, 2021 - Elsevier
Age-related macular degeneration (AMD) is the main cause of vision loss among the elderly
in the Western world. While AMD is a multifactorial disease, the complement system was …

Alternative complement pathway assessment in patients with atypical HUS

LT Roumenina, C Loirat, MA Dragon-Durey… - Journal of …, 2011 - Elsevier
The atypical Hemolytic Uremic Syndrome (aHUS) is a rare thrombotic microangiopathy
leading to end stage renal disease in approximately 60% of patients. Over the last decade, a …

Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome

P Iatropoulos, M Noris, C Mele, R Piras, E Valoti… - Molecular …, 2016 - Elsevier
Background Membranoproliferative glomerulonephritis (MPGN) is an uncommon cause of
chronic nephropathy recently reclassified into immunoglobulin-associated MPGN (Ig-MPGN) …

Regulator-dependent mechanisms of C3b processing by factor I allow differentiation of immune responses

X Xue, J Wu, D Ricklin, F Forneris… - Nature structural & …, 2017 - nature.com
The complement system labels microbes and host debris for clearance. Degradation of
surface-bound C3b is pivotal to direct immune responses and protect host cells. How the …

Structural basis for complement factor I control and its disease-associated sequence polymorphisms

P Roversi, S Johnson, JJE Caesar… - Proceedings of the …, 2011 - National Acad Sciences
The complement system is a key component of innate and adaptive immune responses.
Complement regulation is critical for prevention and control of disease. We have determined …

Heme interferes with complement factor I-dependent regulation by enhancing alternative pathway activation

A Gerogianni, JD Dimitrov, A Zarantonello… - Frontiers in …, 2022 - frontiersin.org
Hemolysis, as a result of disease or exposure to biomaterials, is characterized by excess
amounts of cell-free heme intravascularly and consumption of the protective heme …

Effect of rare coding variants in the CFI gene on Factor I expression levels

S de Jong, EB Volokhina, A de Breuk… - Human Molecular …, 2020 - academic.oup.com
Factor I (FI) is one of the main inhibitors of complement activity, and numerous rare coding
variants have been reported in patients with age-related macular degeneration, atypical …

Functional analysis of variants in complement factor I identified in age-related macular degeneration and atypical hemolytic uremic syndrome

S de Jong, A de Breuk, B Bakker, S Katti… - Frontiers in …, 2022 - frontiersin.org
Complement factor I (FI) is a central inhibitor of the complement system, and impaired FI
function increases complement activation, contributing to diseases such as age-related …

[HTML][HTML] Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic

TM Hallam, SJ Sharp, A Andreadi, D Kavanagh - Immunobiology, 2023 - Elsevier
Complement factor I (FI) is the nexus for classical, lectin and alternative pathway
complement regulation. FI is an 88kDa plasma protein that circulates in an inactive …

Classical and non-classical presentations of complement factor I deficiency: two contrasting cases diagnosed via genetic and genomic methods

AM Shields, AT Pagnamenta, AJ Pollard… - Frontiers in …, 2019 - frontiersin.org
Deficiency of complement factor I is a rare immunodeficiency that typically presents with
increased susceptibility to encapsulated bacterial infections. However, non-infectious …