Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome.

Molecular immunology - 1 Jan 2008

Kavanagh David, Richards Anna, Noris Marina, Hauhart Richard, Liszewski M Kathryn, Karpman Diana, Goodship Judith A, Fremeaux-Bacchi Veronique, Remuzzi Giuseppe, Goodship Timothy H J, Atkinson John P

Abstract excerpt

Recent studies have identified mutations in the complement regulatory gene factor I (CFI) that predispose to atypical hemolytic uremic syndrome (aHUS). CFI is a two-chain serine protease in which the light chain carries the catalytic domain while the heavy chain's function is unclear. It downregulates the alternative and classical complement pathways by cleaving the alpha' chains of C3b and C4b in the presence of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Hemolytic-Uremic Syndrome
Share to Complement C3b

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Complement C4b

Share to Complement Factor I

Share to Gene Deletion

Share to Mutant Proteins

Share to Protein Processing, Post-Translational

Share to Recombinant Proteins

Source

Identifiers

PMID: 17597211
DOI: 10.1016/j.molimm.2007.05.004

Genes

CFI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome.PMID 17597211Read ↗

Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome.Semantic proximity Read ↗

Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I.Semantic proximity Read ↗

A novel missense mutation in complement factor I predisposes patients to atypical hemolytic uremic syndrome: a case report.Semantic proximity Read ↗

Complement Factor I Variants in Complement-Mediated Renal Diseases.Semantic proximity Read ↗

Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.Semantic proximity Read ↗

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.Semantic proximity Read ↗

Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndrome.Semantic proximity Read ↗

The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.Semantic proximity Read ↗

Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome.Semantic proximity Read ↗

Atypical hemolytic uremic syndrome associated with a factor B genetic variant and fluid-phase complement activation: an exception to the rule?Semantic proximity Read ↗

Mutations in atypical hemolytic uremic syndrome provide evidence for the role of calcium in complement factor I.Semantic proximity Read ↗

A Novel Non-Synonymous Polymorphism (p.Arg240His) in C4b-Binding Protein Is Associated with Atypical Hemolytic Uremic Syndrome and Leads to Impaired Alternative Pathway Cofactor ActivitySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.