Cargando…
A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration
Age-related macular degeneration (AMD) is linked to 2 main disparate genetic pathways: a chromosome 10 risk locus and the alternative pathway (AP) of complement. Rare genetic variants in complement factor H (CFH; FH) and factor I (CFI; FI) are associated with AMD. FH acts as a soluble cofactor to fa...
Autores principales: | Hallam, Thomas M., Cox, Thomas E., Smith-Jackson, Kate, Brocklebank, Vicky, Baral, April J., Tzoumas, Nikolaos, Steel, David H., Wong, Edwin K. S., Shuttleworth, Victoria G., Lotery, Andrew J., Harris, Claire L., Marchbank, Kevin J., Kavanagh, David |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9832388/ https://www.ncbi.nlm.nih.gov/pubmed/36643920 http://dx.doi.org/10.3389/fimmu.2022.1028760 |
Ejemplares similares
-
Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration
por: Hallam, Thomas M., et al.
Publicado: (2020) -
Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD
por: Wong, Edwin K. S., et al.
Publicado: (2021) -
Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank
por: Tzoumas, Nikolaos, et al.
Publicado: (2022) -
The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade
por: McMahon, O, et al.
Publicado: (2021) -
Complement C5-inhibiting therapy for the thrombotic microangiopathies: accumulating evidence, but not a panacea
por: Brocklebank, Vicky, et al.
Publicado: (2017)