Associated Papers
Genetic Insights into Circulating Complement Proteins in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Potential Inflammatory Subgroup.
Maya J et al.
International Journal of Molecular Sciences, 2026
Genotypes of SNPs of key genes regulate susceptibility and drug sensitivity to neovascular AMD in the human population.
Cui J et al.
Bmj Open Ophthalmology, 2025
Stratified analyses refine association between TLR7 rare variants and severe COVID-19.
Boos J et al.
Hgg Advances, 2024
Cardiac Manifestation in a Child With Atypical Hemolytic Uremic Syndrome.
Kavgacı A et al.
Clinical Pediatrics, 2024
Complement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?
Günay N et al.
Pediatric Nephrology (berlin, Germany), 2024
CRISPR Manipulation of Age-Related Macular Degeneration Haplotypes in the Complement System: Potential Future Therapeutic Applications/Avenues.
Salman A et al.
International Journal of Molecular Sciences, 2024
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
Plasma proteomic associations with genetics and health in the UK Biobank.
Sun BB et al.
Nature, 2023
Spatial Distribution of Missense Variants within Complement Proteins Associates with Age Related Macular Degeneration.
Grunin M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The Rationale of Complement Blockade of the MCPggaac Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review.
Turudic D et al.
International Journal of Molecular Sciences, 2023
Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.
Rodríguez de Córdoba S
Immunological Reviews, 2023
Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.
Reis BCSD et al.
Frontiers in Cellular and Infection Microbiology, 2023
Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients.
Wąsowska A et al.
Journal of Clinical Medicine, 2022
Systems genomics in age-related macular degeneration.
den Hollander AI et al.
Experimental Eye Research, 2022
Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.
Acar IE et al.
Journal of Personalized Medicine, 2021
Quantitative Alterations in Complement Alternative Pathway and Related Genetic Analysis in Severe Phenotype Preeclampsia.
Alrahmani L et al.
Kidney360, 2021
CoffeeProt: an online tool for correlation and functional enrichment of systems genetics data.
Molendijk J et al.
Nucleic Acids Research, 2021
Role of complement factor B rs4151667 (L9H) polymorphisms and its interactional role with CFH Y402H and C3 rs2230199 (R102G) risk variants in age-related macular degeneration: a case control study.
Roshanipour N et al.
Bmc Ophthalmology, 2020
Functional Evaluation of AMD-Associated Risk Variants of Complement Factor B.
Pilotti C et al.
Investigative Ophthalmology & Visual Science, 2020
Complement family member CFI polymorphisms and AMD susceptibility from a comprehensive analysis.
Yu Q et al.
Bioscience Reports, 2020
Investigation of genetic base in the treatment of age-related macular degeneration.
Gourgouli K et al.
International Ophthalmology, 2020
Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.
Willems E et al.
Clinical & Translational Immunology, 2020
The effect of complement factor B gene variation on age-related macular degeneration in Iranian patients.
Roshanipour N et al.
Journal of Current Ophthalmology, 2019
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.
Akdeniz D et al.
Molecular Genetics & Genomic Medicine, 2019
Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population.
Huang L et al.
Journal of Human Genetics, 2018
Association of Single-Nucleotide Polymorphisms in Age-Related Macular Degeneration With Pseudodrusen: Secondary Analysis of Data From the Comparison of AMD Treatments Trials.
Lin LY et al.
Jama Ophthalmology, 2018
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.
Douillard A et al.
Scientific Reports, 2018
Identification of candidate protective variants for common diseases and evaluation of their protective potential.
Butler JM et al.
Bmc Genomics, 2017
Complement Polymorphisms in Kidney Transplantation: Critical in Graft Rejection?
Michielsen LA et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2017
A systematic review of the association between fatigue and genetic polymorphisms.
Wang T et al.
Brain, Behavior, and Immunity, 2017
A Novel Complotype Combination Associates with Age-Related Macular Degeneration and High Complement Activation Levels in vivo.
Paun CC et al.
Scientific Reports, 2016
Molecular Basis of Factor H R1210C Association with Ocular and Renal Diseases.
Recalde S et al.
Journal of the American Society of Nephrology : Jasn, 2016
Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.
Szarvas N et al.
Molecular Immunology, 2016
A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility.
Gupta A et al.
European Journal of Human Genetics : Ejhg, 2016
Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations.
Miyata T et al.
Thrombosis and Haemostasis, 2015
Pathway-focused genetic evaluation of immune and inflammation related genes with chronic fatigue syndrome.
Rajeevan MS et al.
Human Immunology, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
First-line therapy in atypical hemolytic uremic syndrome: consideration on infants with a poor prognosis.
Szarvas N et al.
Italian Journal of Pediatrics, 2014
CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans.
Contreras AV et al.
Molecular Vision, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
Re: "The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis".
Hughes AE et al.
American Journal of Epidemiology, 2013
A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population.
Lu F et al.
Investigative Ophthalmology & Visual Science, 2013
Associations of the C2-CFB-RDBP-SKIV2L locus with age-related macular degeneration and polypoidal choroidal vasculopathy.
Liu K et al.
Ophthalmology, 2013
Association of C2 and CFB polymorphisms with anterior uveitis.
Yang MM et al.
Investigative Ophthalmology & Visual Science, 2012