[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 …
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 …
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 …
number of glomerular diseases, including atypical haemolytic uraemic syndrome …
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 …
[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 …
diseases caused by dysregulated activity of the alternative pathway of complement …
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 …
with loss of regulation of the alternative pathway of complement and its resulting …
Genetics of immune-mediated glomerular diseases: focus on complement
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 …
with well-recognized genetic origins to more common and multifactorial diseases. Immune …
Corrigendum: Genetic investigation of Nordic patients with complement-mediated kidney diseases
V Rydberg, SS Aradottir, AC Kristoffersson… - Frontiers in …, 2024 - frontiersin.org
In the published article, there was an error in Table 3 as published. Under the heading C3,
rowc. 4030-4C> G was under the ACMG classification stated as “P” when it should be “LB” …
rowc. 4030-4C> G was under the ACMG classification stated as “P” when it should be “LB” …
[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 …
mediated by complement overactivation. Genetic variations in complement genes contribute …
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 …
disease primarily caused by genetic alterations in complement proteins. The genetic work …