Copy Number Analysis of Complement C4A, C4B and C4A Silencing Mutation by Real-Time Quantitative Polymerase Chain Reaction [PDF]
PLoS ONE, 2012 Low protein levels and copy number variation (CNV) of the fourth component of human complement (C4A and C4B) have been associated with various diseases. High-throughput methods for analysing C4 CNV are available, but they commonly do not detect the most common C4A mutation, a silencing CT insertion (CTins) leading to low protein levels.
Asko Järvinen +6 more
doaj +8 more sources
PLoS ONE, 2012 There was an error in the Competing Interests statement. The correct Competing interests are: MLL is working as a consultant at a company owned by the University of Helsinki providing complement C4 analysis for diagnostic samples. This does not alter the authors' adherence to all the PLoS ONE policies on sharing data and materials. The other authors
Riitta Paakkanen +5 more
doaj +7 more sources
Complement factor C4a does not activate protease‐activated receptor 1 (PAR1) or PAR4 on human platelets [PDF]
Research and Practice in Thrombosis and Haemostasis, 2020 AbstractBackgroundProtease activated receptor 1 (PAR1) and PAR4 are key thrombin signal mediators for human platelet activation and aggregation in response to vascular injury. They are primarily activated by thrombin cleavage of the N-terminus to expose a tethered ligand. In addition to the canonical activation by thrombin, a growing panel of proteases
Xu Han +2 more
doaj +6 more sources
Overexpression of schizophrenia susceptibility factor human complement C4A promotes excessive synaptic loss and behavioral changes in mice. [PDF]
Nat Neurosci, 2021 The complement component 4 (C4) gene is linked to schizophrenia and synaptic refinement. In humans, greater expression of C4A in the brain is associated with an increased risk of schizophrenia.
Yilmaz M +8 more
europepmc +3 more sources
Mannan-binding lectin and complement C4A in Icelandic multicase families with systemic lupus erythematosus [PDF]
Annals of the Rheumatic Diseases, 2006 To determine whether low mannan-binding lectin (MBL) and C4A null alleles (C4AQ0) are associated with systemic lupus erythematosus (SLE) in multicase families with SLE.Low MBL level was determined by measuring serum levels and by genotyping for mutant structural (B/C/D, designated as 0) and promoter (LX) alleles (by real-time polymerase chain reaction).
Gerdur Grondal +5 more
semanticscholar +5 more sources
The Molecular Basis of Complete Complement C4A and C4B Deficiencies in a Systemic Lupus Erythematosus Patient with HomozygousC4AandC4BMutant Genes [PDF]
The Journal of Immunology, 2002 AbstractThe disease course of a complete C4-deficient patient in the U.S. was followed for 18 years. The patient experienced multiple episodes of infection, and he was diagnosed with systemic lupus erythematosus at age 9 years. The disease progressed to WHO class III mild lupus nephritis and to fatal CNS vasculitis at age 23 years.
Barry L. Myones +10 more
semanticscholar +6 more sources
C4a: the third anaphylatoxin of the human complement system. [PDF]
Proceedings of the National Academy of Sciences, 1979 The activation peptide C4a was isolated from C1s-cleaved C4, the fourth component of complement. The peptide appeared to be homogeneous by electrophoresis on cellulose acetate and by polyacrylamide gel electrophoresis. C4a has a molecular weight of 8650 and an electrophoretic mobility at pH 8.6 of +2.1 x 10(-5) cm2V-1 sec-1. Carboxypeptidase B released
Hans J. Müller-Eberhard +2 more
openaire +5 more sources
Complement C4a Measurement [PDF]
Definitions, 2020 of the of complement ...
semanticscholar +3 more sources
Early Components of the Complement Classical Activation Pathway in Human Systemic Autoimmune Diseases [PDF]
Frontiers in Immunology, 2016 The complement system consists of effector proteins, regulators, and receptors that participate in host defense against pathogens. Activation of the complement system, via the classical pathway (CP), has long been recognized in immune complex-mediated ...
C. Yung Yu +7 more
core +7 more sources
Polymorphisms in Intron 1 of HLA-DRA Differentially Associate with Type 1 Diabetes and Celiac Disease and Implicate Involvement of Complement System Genes C4A and C4B [PDF]
medRxiv, 2023 Polymorphisms in genes in the human leukocyte antigen (HLA) class II region comprise the most important inherited risk factors for many autoimmune diseases including type 1 diabetes (T1D) and celiac disease (CD): both diseases are positively associated ...
O. Aydemir +14 more
semanticscholar +2 more sources