Associated Papers
Unraveling complement activation profiles on endothelial cells in healthy donors using an ex vivo model.
Duval A et al.
Clinical and Experimental Immunology, 2026
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Analysis of Complement Factor H gene polymorphisms and their association with clinical manifestations ofleptospirosis.
Santiesteban-Lores LE et al.
Immunogenetics, 2024
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Ophthalmology Science, 2023
Common and rare genetic risk variants in age-related macular degeneration and genetic risk score in the Coimbra eye study.
Farinha C et al.
Acta Ophthalmologica, 2023
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.
Acosta-Medina AA et al.
Blood Advances, 2023
Germline Variant Interpretation in Children with Severe Sepsis.
Prince BT et al.
Journal of Clinical Immunology, 2023
A case of Alport syndrome with pregnancy-related atypical hemolytic uremic syndrome and crescentic glomerulonephritis.
Mentese IB et al.
Clinical Nephrology. Case Studies, 2023
Genetic investigation of Nordic patients with complement-mediated kidney diseases.
Rydberg V et al.
Frontiers in Immunology, 2023
Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients.
Wąsowska A et al.
Journal of Clinical Medicine, 2022
Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.
Farinha C et al.
Investigative Ophthalmology & Visual Science, 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
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
de Jong S et al.
Human Molecular Genetics, 2022
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Genetic analysis of CFH and MCP in Egyptian patients with immune-complex proliferative glomerulonephritis.
Gouda HR et al.
Frontiers in Immunology, 2022
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Martín Merinero H et al.
Blood, 2021
Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome: A Swedish retrospective observational study.
Åkesson A et al.
Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2021
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
Lorés-Motta L et al.
American Journal of Human Genetics, 2021
Clinicopathologic Implications of Complement Genetic Variants in Kidney Transplantation.
Ren Z et al.
Frontiers in Medicine, 2021
Could plasma based therapies still be considered in selected cases with atypical hemolytic uremic syndrome?
Özlü SG et al.
The Turkish Journal of Pediatrics, 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 Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.
Merle BMJ et al.
Investigative Ophthalmology & Visual Science, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.
Shoshany N et al.
Genes, 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
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.
Bu F et al.
Journal of the American Society of Nephrology : Jasn, 2018
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
Geerlings MJ et al.
Clinical Genetics, 2018
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.
McCormack M et al.
Neurology, 2018
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
An extremely rare splice site mutation in the gene encoding complement factor I in a patient with atypical hemolytic uremic syndrome.
Ipe TS et al.
Journal of Clinical Apheresis, 2017
The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.
Geerlings MJ et al.
Molecular Immunology, 2017
Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients.
Besbas N et al.
Bmc Nephrology, 2017
Complement Activation Induces Neutrophil Adhesion and Neutrophil-Platelet Aggregate Formation on Vascular Endothelial Cells.
Riedl M et al.
Kidney International Reports, 2017
Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.
Yu Y et al.
Human Molecular Genetics, 2016
AMD and the alternative complement pathway: genetics and functional implications.
Tan PL et al.
Human Genomics, 2016
New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.
Rodriguez E et al.
Bioscience Reports, 2014
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
Complement factor H mutations are present in ADAMTS13-deficient, ticlopidine-associated thrombotic microangiopathies.
Chapin J et al.
Blood, 2013
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
Raychaudhuri S et al.
Nature Genetics, 2011