[HTML][HTML] Genetic investigation of Nordic patients with complement-mediated kidney diseases

V Rydberg, SS Aradottir, AC Kristoffersson… - Frontiers in …, 2023 - frontiersin.org
Background Complement activation in atypical hemolytic uremic syndrome (aHUS), C3
glomerulonephropathy (C3G) and immune complex-mediated membranoproliferative …

[HTML][HTML] Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy

L Haydock, AP Garneau, L Tremblay, HY Yen… - Journal of Molecular …, 2022 - Springer
Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) have been
linked to mutations in many of the proteins that are involved in alternative complement …

Making sense of the spectrum of glomerular disease associated with complement dysregulation

SA Johnson, EKS Wong, CM Taylor - Pediatric Nephrology, 2014 - Springer
Over recent years, complement has emerged as a major player in the development of a
number of glomerular diseases, including atypical haemolytic uraemic syndrome …

[HTML][HTML] Complement factor I variants in Complement-mediated renal diseases

Y Zhang, RX Goodfellow, N Ghiringhelli Borsa… - Frontiers in …, 2022 - frontiersin.org
C3 glomerulopathy (C3G) and atypical hemolytic uremic syndrome (aHUS) are two rare
diseases caused by dysregulated activity of the alternative pathway of complement …

Statistical validation of rare complement variants provides insights into the molecular basis of atypical hemolytic uremic syndrome and C3 glomerulopathy

AJ Osborne, M Breno, NG Borsa, F Bu… - The Journal of …, 2018 - journals.aai.org
Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are associated
with dysregulation and overactivation of the complement alternative pathway. Typically …

Genetic and protein structural evaluation of atypical hemolytic uremic syndrome and C3 glomerulopathy

SJ Perkins - Advances in Chronic Kidney Disease, 2020 - Elsevier
Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are associated
with loss of regulation of the alternative pathway of complement and its resulting …

Genetics of immune-mediated glomerular diseases: focus on complement

M Noris, G Remuzzi - Seminars in nephrology, 2017 - Elsevier
The spectrum of immune-mediated glomerular diseases is wide, ranging from rare diseases
with well-recognized genetic origins to more common and multifactorial diseases. Immune …

[HTML][HTML] A haplotype in CFH family genes confers high risk of rare glomerular nephropathies

Y Ding, W Zhao, T Zhang, H Qiang, J Lu, X Su… - Scientific Reports, 2017 - nature.com
Despite distinct renal lesions, a series of rare glomerular nephropathies are reportedly
mediated by complement overactivation. Genetic variations in complement genes contribute …

[HTML][HTML] Different types of glomerulonephritis associated with the dysregulation of the complement alternative pathway in 2 brothers: a case report

P Chen, L Zhu, F Yu, SS Han, SJ Meng, W Guo… - Medicine, 2017 - journals.lww.com
Interventions: Screenings for genetic mutations contributed to complement system
dysregulation were performed on patient II-1. Outcomes: The genome sequencing identified …

Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome: A Swedish retrospective observational study

A Åkesson, M Martin, AM Blom… - Therapeutic …, 2021 - Wiley Online Library
Complement‐mediated atypical hemolytic uremic syndrome (aHUS) is an ultra‐rare renal
disease primarily caused by genetic alterations in complement proteins. The genetic work …