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

Substitutions at position 263 within the von Willebrand factor type A domain determine the functionality of complement C2 protein.

Frontiers in immunology - 1 Jan 2022

Kuźniewska Alicja, Thiel Marcel, Kowalska Daria, Felberg-Miętka Anna, Szynkowski Patryk, Ołdziej Stanisław, Arjona Emilia, Jongerius Ilse, Rodriguez de Córdoba Santiago, Okrój Marcin, Urban Aleksandra

Abstract excerpt

The complement system is one of the first defense lines protecting from invading pathogens. However, it may turn offensive to the body's own cells and tissues when deregulated by the presence of rare genetic variants that impair physiological regulation and/or provoke abnormal activity of key enzymatic components. Factor B and complement C2 are examples of paralogs engaged in the alternative and classical/lectin...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Complement C2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Complement Factor B

Share to Mutation

Share to von Willebrand Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 36591303
DOI: 10.3389/fimmu.2022.1061696
PMCID: PMC9797810

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

Substitutions at position 263 within the von Willebrand factor type A domain determine the functionality of complement C2 protein.PMID 36591303Read ↗

The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency.Semantic proximity Read ↗

von Willebrand factor variants in C3 glomerulopathy: A Chinese cohort study.Semantic proximity Read ↗

Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structureSemantic proximity Read ↗

Functional mapping of factor VIII C2 domain.Semantic proximity Read ↗

Rare loss-of-function mutation in complement component C3 provides insight into molecular and pathophysiological determinants of complement activity.Semantic proximity Read ↗

Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structureSemantic proximity Read ↗

Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A(IIC) von Willebrand disease phenotype in an Iranian patient.Semantic proximity Read ↗

Positively charged amino acids at the interface between alpha-chain CCP1 and CCP2 of C4BP are required for regulation of the classical C3-convertase.Semantic proximity Read ↗

C3 glomerulonephritis associated with complement factor B mutation.Semantic proximity Read ↗

Functional mapping of the A2 domain from human factor VIII.Semantic proximity Read ↗

Genetic, molecular and functional analyses of complement factor I deficiencySemantic proximity Read ↗

Existence of Different but Overlapping IgG- and IgM-Binding Sites on the Globular Domain of Human C1qSemantic proximity Read ↗

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