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Report strong association of systemic lupus erythematosus in individuals with low copy numbers of C4 and in particular in patients with complete deficiency of C4A (zeige C4B Proteine).
An elevated number of C4 genes was observed in Alzheimer's disease (AD) patients as compared with healthy controls. The presence of high C4A (zeige C4B Proteine) and C4B (zeige C4B Proteine) copy numbers in AD patients could explain the increased C4 protein expression observed in AD patients, thus highlighting a possible role for C4A (zeige C4B Proteine) and C4B (zeige C4B Proteine) copy number variations in the risk of developing AD.
This study shows that the C4c/C4 ratio seems to be a better diagnostic measure than total antigenic C4 alone. Our findings underline that screening with total antigenic C4 implies a risk of overlooking C1-INH-HAE patients.
In comparison with C4-intact patients, C4-deficient patients had a different clinical/serologic lupus-like phenotype and lacked the lupus interferon (zeige IFNA Proteine) signature.
C4 copy number variations and deficiency of C4A (zeige C4B Proteine) both play an important role in the risk and manifestations of systemic lupus erythematosus in East Asian and European populations
Complement C4A deficiency (gene copy number <=1) was identified as a risk factor in a case-control study of juvenile dermatomyositis, particularly when subjects concurrently carried the HLA-DRB1 (zeige HLA-DRB1 Proteine)*0301 allele.
Solution Structures of Complement C2 and Its C4 Complexes Propose Pathway-specific Mechanisms for Control and Activation of the Complement Proconvertases.
Coronary atherosclerosis is distinguished by serum C4 complement up-regulation and ceruloplasmin (zeige CP Proteine) down-regulation.
find strong statistical significance for association of increased copy number of C4A (zeige C4B Proteine) (OR 0.81 (0.73; 0.89);P = 4.4 x 10(-5)), with the effect most pronounced in individuals over 78 years (OR 0.67 (0.55; 0.81)) and females
genetic polymorphism is associated with acute graft versus host disease in unrelated hematopoietic stem cell transplantation
This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene.
C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2
, C4A anaphylatoxin
, Rodgers form of C4
, acidic C4
, acidic complement C4
, complement C4-A
, sex-limited protein
, complement C4
, complement component 4 (within H-2S)
, complement component 4, gene 1
, complement component 4B (Chido blood group)
, complement component 4B (Childo blood group)