Associated Papers
Genetic Variation in the Alternative Complement Pathway Contributes to Individual Susceptibility to Bacteremia and Sepsis.
Inman K et al.
Critical Care Explorations, 2025
Gene-Environment Interaction: Lessons From Complement-Mediated Kidney Disease.
Klomjit N et al.
Seminars in Nephrology, 2025
The role of the complement system in Shiga toxin-associated hemolytic uremic syndrome.
Bocanegra V et al.
Pediatric Nephrology (berlin, Germany), 2025
Factor B as a therapeutic target for the treatment of complement-mediated diseases.
Kavanagh D et al.
Frontiers in Immunology, 2025
Aberrant Lipid Metabolism and Complement Activation in Age-Related Macular Degeneration.
Tang S et al.
Investigative Ophthalmology & Visual Science, 2024
Cardiac Manifestation in a Child With Atypical Hemolytic Uremic Syndrome.
Kavgacı A et al.
Clinical Pediatrics, 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
Family History of Age-Related Macular Degeneration and Genetics Predict Progression to Advanced Age-Related Macular Degeneration Adjusting for Macular Status, Demographic, and Lifestyle Factors.
Seddon JM et al.
American Journal of Ophthalmology, 2023
Global analysis of suppressor mutations that rescue human genetic defects.
Ünlü B et al.
Genome Medicine, 2023
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Ophthalmology Science, 2023
Targeted genotyping of COVID-19 patients reveals a signature of complement C3 and factor B coding SNPs associated with severe infection.
Tsiftsoglou SA et al.
Immunobiology, 2023
Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.
Rodríguez de Córdoba S
Immunological Reviews, 2023
Systems genomics in age-related macular degeneration.
den Hollander AI et al.
Experimental Eye Research, 2022
Genetic Aspects of Age-Related Macular Degeneration and Their Therapeutic Potential.
Stradiotto E et al.
International Journal of Molecular Sciences, 2022
Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.
Gavriilaki E et al.
Current Issues in Molecular Biology, 2022
Functional variant rs12614 in CFB confers a low risk of IgA nephropathy by attenuating complement alternative pathway activation in Han Chinese.
Shi DC et al.
Frontiers in Immunology, 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
Association of genetic variants rs641153 (CFB), rs2230199 (C3), and rs1410996 (CFH) with age-related macular degeneration in a Brazilian population.
Neto JM et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
CoffeeProt: an online tool for correlation and functional enrichment of systems genetics data.
Molendijk J et al.
Nucleic Acids Research, 2021
Complement System and Potential Therapeutics in Age-Related Macular Degeneration.
Park YG et al.
International Journal of Molecular Sciences, 2021
Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Investigative Ophthalmology & Visual Science, 2020
Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis.
Díaz-Villamarín X et al.
Genes, 2020
Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.
Merle BMJ et al.
Investigative Ophthalmology & Visual Science, 2020
Functional Evaluation of AMD-Associated Risk Variants of Complement Factor B.
Pilotti C et al.
Investigative Ophthalmology & Visual Science, 2020
Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis.
Garam N et al.
Clinical Kidney Journal, 2020
Prospective Application of Activity-Based Proteomic Profiling in Vision Research-Potential Unique Insights into Ocular Protease Biology and Pathology.
Peng H et al.
International Journal of Molecular Sciences, 2019
Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals.
Seddon JM et al.
American Journal of Ophthalmology, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.
Valoti E et al.
Frontiers in Immunology, 2019
Prevalence of age-related macular degeneration associated genetic risk factors and 4-year progression data in the Irish population.
Connolly E et al.
The British Journal of Ophthalmology, 2018
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
Treating C3 glomerulopathy with eculizumab.
Welte T et al.
Bmc Nephrology, 2018
Diseases of complement dysregulation-an overview.
Wong EKS et al.
Seminars in Immunopathology, 2018
Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine.
Maugeri A et al.
Biomed Research International, 2018
Association of ARMS2 genotype with response to anti-vascular endothelial growth factor treatment in polypoidal choroidal vasculopathy.
Park UC et al.
Bmc Ophthalmology, 2017
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
Clinical study of the correlation between complement factor H polymorphism and age-related macular degeneration.
Dong HT et al.
Genetics and Molecular Research : Gmr, 2016
AMD and the alternative complement pathway: genetics and functional implications.
Tan PL et al.
Human Genomics, 2016
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
Dietary folate, B vitamins, genetic susceptibility and progression to advanced nonexudative age-related macular degeneration with geographic atrophy: a prospective cohort study.
Merle BM et al.
The American Journal of Clinical Nutrition, 2016
AMD Genetics in India: The Missing Links.
Anand A et al.
Frontiers in Aging Neuroscience, 2016
Adherence to a Mediterranean diet, genetic susceptibility, and progression to advanced macular degeneration: a prospective cohort study.
Merle BM et al.
The American Journal of Clinical Nutrition, 2015
Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations.
Miyata T et al.
Thrombosis and Haemostasis, 2015
Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.
Jiang DK et al.
Hepatology (baltimore, Md.), 2015
Risk Prediction for Progression of Macular Degeneration: 10 Common and Rare Genetic Variants, Demographic, Environmental, and Macular Covariates.
Seddon JM et al.
Investigative Ophthalmology & Visual Science, 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