Results 1 to 10 of about 389,834 (185)
Clinical features of patients with homozygous complement C4A or C4B deficiency [PDF]
PLoS ONE, 2018 IntroductionHomozygous deficiencies of complement C4A or C4B are detected in 1-10% of populations. In genome-wide association studies C4 deficiencies are missed because the genetic variation of C4 is complex.
Inka Liesmaa +2 more
exaly +9 more sources
Complement C4A Regulates Autoreactive B Cells in Murine Lupus [PDF]
Cell Reports, 2020 Summary: Systemic lupus erythematosus (SLE) is a severe autoimmune disease mediated by pathogenic autoantibodies. While complement protein C4 is associated with SLE, its isoforms (C4A and C4B) are not equal in their impact.
Michael C Carroll +2 more
exaly +7 more sources
Complement C4, C4A and C4a – What they do and how they differ
Brain, Behavior, & Immunity - HealthSchizophrenia has been linked to the immune system, in particular the major histocompatibility complex class III (MHC), variations in complement component 4 (C4), and a risk association with increased expression of the C4A isotype (Sekar et al., 2016).
Melanie Föcking +2 more
exaly +10 more sources
Real-time PCR quantification of human complement C4A and C4B genes [PDF]
BMC Genetics, 2006 Background The fourth component of human complement (C4), an essential factor of the innate immunity, is represented as two isoforms (C4A and C4B) in the genome.
Fust George +5 more
doaj +5 more sources
Divergence of C4A and C4B in first-episode psychosis: Insights from CSF and plasma immune profiling [PDF]
Translational PsychiatryThe complement genes C4A and C4B share high sequence similarity yet differ in biological function and disease relevance. C4A, in contrast to C4B, is implicated in synaptic pruning and increased risk for schizophrenia, however beyond this their distinct ...
Shokouh Arjmand +9 more
doaj +2 more sources
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 ...
Riitta Paakkanen +5 more
doaj +5 more sources
Research and Practice in Thrombosis and Haemostasis, 2021 Background Protease‐activated receptor (PAR) 1 and PAR4 are key thrombin signal mediators for human platelet activation and aggregation in response to vascular injury.
Maria de la Fuente +2 more
exaly +2 more sources
Genetic mapping of complement system proteins for islet autoimmunity in children with high risk of T1D [PDF]
Communications BiologyRecent studies have reported the involvement of complement system proteins in the initiation and progression of islet autoimmunity (IA) in the study of Type 1 diabetes (T1D).
Xiaowei Hu +10 more
doaj +2 more sources
Neuroimmune Dysregulation and Synaptic Pruning in Autism Spectrum Disorder [PDF]
BiologyAutism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication deficits and repetitive behaviors, now affecting approximately 1 in 31 children.
Abdel Bernal-Reyes +6 more
doaj +2 more sources
Frontiers in GeneticsIntroduction: Age-related macular degeneration (AMD) is the leading cause of central vision loss in the elderly. One-third of the genetic contribution to this disease remains unexplained.Methods: We analyzed targeted sequencing data from two independent ...
Claudio Punzo, John Atkinson
exaly +3 more sources