Associated Papers
TEP-1, a glial thioester protein is required for cilia organization and intraflagellar transport in ensheathed sensory neurons in Caenorhabditis elegans.
Oshima Y et al.
Molecular Biology of the Cell, 2026
Unraveling complement activation profiles on endothelial cells in healthy donors using an ex vivo model.
Duval A et al.
Clinical and Experimental Immunology, 2026
Structural characterization of Factor H via computational methods: Implications for disease and therapy.
Jena AB et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025
TEP-1, a glial thioester protein is required for cilia organization and intraflagellar transport in ensheathed sensory neurons.
Oshima Y et al.
Biorxiv : the Preprint Server for Biology, 2025
Complement Factor H and its C. elegans homolog regulate IFT52/OSM-6 and CNG channel localization in sensory neurons.
Oshima Y et al.
Biorxiv : the Preprint Server for Biology, 2025
Loss of CFHR5 function reduces the risk for age-related macular degeneration.
Reeve MP et al.
Nature Communications, 2025
Gene-Environment Interaction: Lessons From Complement-Mediated Kidney Disease.
Klomjit N et al.
Seminars in Nephrology, 2025
Kidney Transplantation in Patients With aHUS: A Comparison of Eculizumab Prophylaxis Versus Rescue Therapy.
Duineveld C et al.
Transplantation, 2025
Atypical Hemolytic Uremic Syndrome Associated with BNT162b2 mRNA COVID-19 Vaccine in a Kidney Transplant Recipient: A Case Report and Literature Review.
Pattonieri EF et al.
Infectious Disease Reports, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
C3d-targeted complement inhibitors to correct complement dysregulation in aHUS patients.
Guaschino V et al.
Frontiers in Immunology, 2025
High prevalence of the hotspot complement factor I p.Ile357Met pathogenic variant in Tunisian atypical hemolytic uremic syndrome patients: report of three new cases and review of the literature.
Tajouri A et al.
Frontiers in Immunology, 2025
Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.
Seddon JM et al.
Investigative Ophthalmology & Visual Science, 2024
Loss of CFHR5 function reduces the risk for age-related macular degeneration.
Reeve MP et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
Maggi J et al.
International Journal of Molecular Sciences, 2024
Ex Vivo Test of Complement Dysregulation in Atypical Hemolytic Uremic Syndrome Kidney Transplant patients: A Pilot Study.
Duineveld C et al.
Kidney International Reports, 2024
The human factor H protein family - an update.
Sándor N et al.
Frontiers in Immunology, 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
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes.
Fan Q et al.
Nature Communications, 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
Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.
Wąsowska A et al.
Genes, 2023
AAV Gene Augmentation of Truncated Complement Factor H Differentially Rescues Ocular Complement Dysregulation in a Mouse Model.
Grigsby D et al.
Investigative Ophthalmology & Visual Science, 2023
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Ophthalmology Science, 2023
Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome.
Glover EK et al.
Transplantation, 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
Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration.
Huan T et al.
Ophthalmology Science, 2023
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.
Acosta-Medina AA et al.
Blood Advances, 2023
An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.
Gastoldi S et al.
Frontiers in Immunology, 2023
Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration.
Seddon JM et al.
Frontiers in Genetics, 2023
Geographic atrophy: pathophysiology and current therapeutic strategies.
Rajanala K et al.
Frontiers in Ophthalmology, 2023
Systems genomics in age-related macular degeneration.
den Hollander AI et al.
Experimental Eye Research, 2022
An Evaluation of the Complement-Regulating Activities of Human Complement Factor H (FH) Variants Associated With Age-Related Macular Degeneration.
Biggs RM et al.
Investigative Ophthalmology & Visual Science, 2022
Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration.
Java A et al.
Human Molecular Genetics, 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
Consequences of a Rare Complement Factor H Variant for Age-Related Macular Degeneration in the Amish.
Waksmunski AR et al.
Investigative Ophthalmology & Visual Science, 2022
Molecular Genetic Mechanisms in Age-Related Macular Degeneration.
Shughoury A et al.
Genes, 2022
Retinal findings in glomerulonephritis.
Mack HG et al.
Clinical & Experimental Optometry, 2022
Association of the CYP39A1 G204E Genetic Variant with Increased Risk of Glaucoma and Blindness in Patients with Exfoliation Syndrome.
Bell K et al.
Ophthalmology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational 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
C5a and C5aR1 are key drivers of microvascular platelet aggregation in clinical entities spanning from aHUS to COVID-19.
Aiello S et al.
Blood Advances, 2022
Complement Factor I Variants in Complement-Mediated Renal Diseases.
Zhang Y et al.
Frontiers in Immunology, 2022
CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.
Piras R et al.
Frontiers in Immunology, 2022
Analysis of hemopexin plasma levels in patients with age-related macular degeneration.
Lauwen S et al.
Molecular Vision, 2022