[HTML][HTML] The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment

MJ Geerlings, EK de Jong, AI den Hollander - Molecular immunology, 2017 - Elsevier
Age-related macular degeneration (AMD) is a progressive retinal disease and the major
cause of irreversible vision loss in the elderly. Numerous studies have found both common …

Complement regulator CD46: genetic variants and disease associations

MK Liszewski, JP Atkinson - Human genomics, 2015 - Springer
Membrane cofactor protein (MCP; CD46) is an ubiquitously expressed complement
regulatory protein that protects host cells from injury by complement. This type-I membrane …

[HTML][HTML] Patients with hypertension-associated thrombotic microangiopathy may present with complement abnormalities

SA Timmermans, MA Abdul-Hamid, J Vanderlocht… - Kidney international, 2017 - Elsevier
Thrombotic microangiopathy (TMA) is a pattern of endothelial damage that can be found in
association with diverse clinical conditions such as malignant hypertension. Although the …

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification

H Martín Merinero, Y Zhang, E Arjona… - Blood, The Journal …, 2021 - ashpublications.org
Atypical hemolytic uremic syndrome (aHUS) is a life-threatening thrombotic microangiopathy
that can progress, when untreated, to end-stage renal disease. Most frequently, aHUS is …

C5b9 formation on endothelial cells reflects complement defects among patients with renal thrombotic microangiopathy and severe hypertension

SA Timmermans, MA Abdul-Hamid… - Journal of the …, 2018 - journals.lww.com
Background Severe hypertension can induce thrombotic microangiopathy (TMA) in the renal
vasculature, the occurrence of which has been linked to mechanical stress to the …

Pretransplant genetic susceptibility: clinical relevance in transplant-associated thrombotic microangiopathy

E Gavriilaki, T Touloumenidou… - Thrombosis and …, 2020 - thieme-connect.com
Transplant-associated thrombotic microangiopathy (TA-TMA) is a life-threatening
complication of allogeneic hematopoietic cell transplantation (HCT). We hypothesized that …

Living donor kidney transplantation in atypical hemolytic uremic syndrome: a case series

C Duineveld, JC Verhave, SP Berger… - American Journal of …, 2017 - Elsevier
Background The development of complement inhibitors has greatly improved the outcome of
patients with atypical hemolytic uremic syndrome (aHUS), making kidney transplantation a …

The functional effect of rare variants in complement genes on C3b degradation in patients with age-related macular degeneration

MJ Geerlings, M Kremlitzka, B Bakker… - JAMA …, 2017 - jamanetwork.com
Importance In age-related macular degeneration (AMD), rare variants in the complement
system have been described, but their functional consequences remain largely unexplored …

Rare functional variants in complement genes and anti-FH autoantibodies-associated aHUS

E Valoti, M Alberti, P Iatropoulos, R Piras… - Frontiers in …, 2019 - frontiersin.org
Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by
microangiopathic hemolytic anemia, thrombocytopenia and renal failure. It is caused by …

Safety and effectiveness of restrictive eculizumab treatment in atypical haemolytic uremic syndrome

KL Wijnsma, C Duineveld, EB Volokhina… - Nephrology Dialysis …, 2018 - academic.oup.com
Background Atypical haemolytic uremic syndrome (aHUS) is a rare but severe form of
thrombotic microangiopathy as a consequence of complement dysregulation. aHUS has a …