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
Hierarchical clustering uncovered disease patterns and further untangled complexities in immune complex-mediated idiopathic MPGN and C3 glomerulopathy.
Benigni A et al.
Kidney International, 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
Structural characterization of Factor H via computational methods: Implications for disease and therapy.
Jena AB et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 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
Acquired and genetic drivers of C3 and C5 convertase dysregulation in C3 glomerulopathy and immunoglobulin-associated MPGN.
Roquigny J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
The role of the complement system in Shiga toxin-associated hemolytic uremic syndrome.
Bocanegra V et al.
Pediatric Nephrology (berlin, Germany), 2025
Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.
Jantus-Lewintre E et al.
Molecular Diagnosis & Therapy, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Common Haplotypes within the Chromosome 1q31.3 Region Determine Systemic Concentrations of the Entire Complement Factor H Protein Family.
Veuskens BRJ et al.
Journal of Innate Immunity, 2025
Individualised therapeutic approach to the patient with atypical haemolytic-uraemic syndrome.
Mikačić I et al.
Clinical Medicine (london, England), 2024
Extensive macular atrophy with pseudodrusen-like appearance: comprehensive review of the literature.
Carlà MM et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
Relationship between CCL2 gene 2518A/G (rs1024611) polymorphism and age-related macular degeneration susceptibility: meta-analysis and trial sequential analysis.
Tian H et al.
International Ophthalmology, 2024
Genetic factors associated with age-related macular degeneration modulating plasma inflammatory biomarker levels in patients with AIDS.
Sezgin E et al.
Ophthalmic Genetics, 2024
Genetic Insights into Age-Related Macular Degeneration.
Bhumika et al.
Biomedicines, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Pioglitazone, a PPAR-y agonist, as one of the new therapeutic candidates for C3 glomerulopathy.
Balestra E et al.
Pediatric Nephrology (berlin, Germany), 2024
Mass spectrometry-based targeted proteomics for analysis of protein mutations.
Lin TT et al.
Mass Spectrometry Reviews, 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
The Factor H protein family: The switchers of the complement alternative pathway.
Lucientes-Continente L et al.
Immunological Reviews, 2023
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 2023
An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.
Gastoldi S et al.
Frontiers in Immunology, 2023
Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa.
Boukhalfa W et al.
Frontiers in Aging Neuroscience, 2023
Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients.
Wąsowska A et al.
Journal of Clinical Medicine, 2022
Common complement factor H polymorphisms are linked with periodontitis in elderly patients.
Salminen A et al.
Journal of Periodontology, 2022
Association between Polymorphisms in CFH, ARMS2, CFI, and C3 Genes and Response to Anti-VEGF Treatment in Neovascular Age-Related Macular Degeneration.
Kozhevnikova OS et al.
Biomedicines, 2022
Retinal findings in glomerulonephritis.
Mack HG et al.
Clinical & Experimental Optometry, 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
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Genetic analysis of CFH and MCP in Egyptian patients with immune-complex proliferative glomerulonephritis.
Gouda HR et al.
Frontiers in Immunology, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 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
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Martín Merinero H et al.
Blood, 2021
Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
Khan AH et al.
Human Mutation, 2021
Kidney Thrombotic Microangiopathy After COVID-19 Associated With C3 Gene Mutation.
Mat O et al.
Kidney International Reports, 2021
Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics.
Shijo T et al.
International Journal of Molecular Sciences, 2021
Efficacy of Eculizumab in Coexisting Complement C3 Glomerulopathy and Atypical Hemolytic Uremic Syndrome.
Busutti M et al.
Kidney International Reports, 2021
Poor allograft outcome in Indian patients with post-transplant C3 glomerulopathy.
Kumar A et al.
Clinical Kidney Journal, 2021
Complement Genetic Variants and FH Desialylation in S. pneumoniae-Haemolytic Uraemic Syndrome.
Gómez Delgado I et al.
Frontiers in Immunology, 2021
Factor D Inhibition Blocks Complement Activation Induced by Mutant Factor B Associated With Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis.
Aradottir SS et al.
Frontiers in Immunology, 2021
Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE.
Smolag KI et al.
Frontiers in Immunology, 2021
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
Identification of a New Complement Factor H Mutation in a Patient With Pregnancy-Related Acute Kidney Injury.
Santoro D et al.
Kidney International Reports, 2020
Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis.
Garam N et al.
Clinical Kidney Journal, 2020
Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant.
Piras R et al.
Frontiers in Medicine, 2020