[HTML][HTML] CFH and CFHR Copy Number Variations in C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis
R Piras, M Breno, E Valoti, M Alberti… - Frontiers in …, 2021 - frontiersin.org
C3 Glomerulopathy (C3G) and Immune Complex-Mediated Membranoproliferative
glomerulonephritis (IC-MPGN) are rare diseases characterized by glomerular deposition of …
glomerulonephritis (IC-MPGN) are rare diseases characterized by glomerular deposition of …
[HTML][HTML] Gain-of-function mutations R249C and S250C in complement C2 protein increase C3 deposition in the presence of C-reactive protein
A Urban, D Kowalska, G Stasiłojć… - Frontiers in …, 2021 - frontiersin.org
The impairment of the alternative complement pathway contributes to rare kidney diseases
such as atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G). We …
such as atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G). We …
[HTML][HTML] Novel C3 mutation p. Lys65Gln in aHUS affects complement factor H binding
Background Atypical hemolytic uremic syndrome (aHUS) is associated with mutations
affecting complement proteins and regulators and with autoantibodies against complement …
affecting complement proteins and regulators and with autoantibodies against complement …
[HTML][HTML] Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene
D Westra, KA Vernon, EB Volokhina… - Journal of human …, 2012 - nature.com
Atypical hemolytic uremic syndrome (aHUS) is a severe renal disorder that is associated
with mutations in genes encoding proteins of the alternative complement pathway …
with mutations in genes encoding proteins of the alternative complement pathway …
Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals
MC Pickering, HT Cook - Clinical & Experimental Immunology, 2008 - academic.oup.com
Summary OTHER ARTICLES PUBLISHED IN THIS TRANSLATIONAL MINI-REVIEW
SERIES ON COMPLEMENT FACTOR H Genetics and disease associations of human …
SERIES ON COMPLEMENT FACTOR H Genetics and disease associations of human …
Rare variants in complement gene in C3 glomerulopathy and immunoglobulin-mediated membranoproliferative GN
MS Meuleman, P Vieira-Martins… - Clinical Journal of the …, 2023 - journals.lww.com
Background C3 glomerulopathy and idiopathic immunoglobulin-mediated
membranoproliferative GN (Ig-MPGN) are rare complement-mediated kidney diseases …
membranoproliferative GN (Ig-MPGN) are rare complement-mediated kidney diseases …
[HTML][HTML] Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis
DP Gale, EG De Jorge, HT Cook, R Martinez-Barricarte… - The Lancet, 2010 - thelancet.com
Background Complement is a key component of the innate immune system, and variation in
genes that regulate its activation is associated with renal and other disease. We aimed to …
genes that regulate its activation is associated with renal and other disease. We aimed to …
Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes
T Yamamura, K Nozu, H Ueda, R Fujimaru… - Journal of human …, 2018 - nature.com
Pathogenic variants in specific complement-related genes lead to atypical hemolytic uremic
syndrome (aHUS). Some reports have indicated that patients with digenic variants in these …
syndrome (aHUS). Some reports have indicated that patients with digenic variants in these …
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype
E Bresin, E Rurali, J Caprioli… - Journal of the …, 2013 - journals.lww.com
Several abnormalities in complement genes reportedly contribute to atypical hemolytic
uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are …
uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are …
Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis
N Garam, Z Prohaszka, A Szilagyi, C Aigner… - Clinical kidney …, 2020 - academic.oup.com
Background A novel data-driven cluster analysis identified distinct pathogenic patterns in C3-
glomerulopathies and immune complex-mediated membranoproliferative …
glomerulopathies and immune complex-mediated membranoproliferative …