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
Understanding rare genetic variants within the terminal pathway of complement system in preeclampsia.
Lokki AI et al.
Genes and Immunity, 2025
Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.
Acar IE et al.
Investigative Ophthalmology & Visual Science, 2023
Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.
Iglesias MJ et al.
Nature Communications, 2023
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.
Belkadi A et al.
Cell Genomics, 2023
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
Quantitative Alterations in Complement Alternative Pathway and Related Genetic Analysis in Severe Phenotype Preeclampsia.
Alrahmani L et al.
Kidney360, 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
Hemolytic uremic syndrome and kidney transplantation in uncontrolled donation after circulatory death (DCD): A two-case report.
Caroti L et al.
Clinical Nephrology. Case Studies, 2021
An adult case of atypical hemolytic uremic syndrome presented with posterior reversible encephalopathy syndrome: Successful response to late-onset eculizumab treatment.
Medeni SS et al.
Hematology Reports, 2018
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Osborne AJ et al.
Journal of Immunology (baltimore, Md. : 1950), 2018
Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.
Papazachariou L et al.
Clinical Genetics, 2017
Acquired Complement Regulatory Gene Mutations and Hematopoietic Stem Cell Transplant-Related Thrombotic Microangiopathy.
Ardissino G et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2017
Long-term outcomes of the Atypical Hemolytic Uremic Syndrome after kidney transplantation treated with eculizumab as first choice.
de Andrade LGM et al.
Plos One, 2017
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration.
Narendra U et al.
Molecular Vision, 2009
Factor H family proteins and human diseases.
Józsi M et al.
Trends in Immunology, 2008