Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.R1210S
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CFH

NM_000186.4:p.R1210S

Associated Papers

Binding of the human complement regulators CFHR1 and factor H by streptococcal collagen-like protein 1 (Scl1) via their conserved C termini allows control of the complement cascade at multiple levels.

Reuter M et al.

The Journal of Biological Chemistry, 2010

The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.

Ferreira VP et al.

Journal of Immunology (baltimore, Md. : 1950), 2009

Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic uremic syndrome.

Jokiranta TS et al.

The Embo Journal, 2006

An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations.

Saunders RE et al.

Human Mutation, 2006

Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions.

Józsi M et al.

Journal of the American Society of Nephrology : Jasn, 2006

Binding of complement factor H to endothelial cells is mediated by the carboxy-terminal glycosaminoglycan binding site.

Jokiranta TS et al.

The American Journal of Pathology, 2005

Factor H binds to washed human platelets.

Vaziri-Sani F et al.

Journal of Thrombosis and Haemostasis : Jth, 2005

Genetic screening in haemolytic uraemic syndrome.

Zipfel PF et al.

Current Opinion in Nephrology and Hypertension, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."