Associated Papers
Structural characterization of Factor H via computational methods: Implications for disease and therapy.
Jena AB et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025
Kidney Transplantation in Patients With aHUS: A Comparison of Eculizumab Prophylaxis Versus Rescue Therapy.
Duineveld C et al.
Transplantation, 2025
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
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
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
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
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson PC et al.
Kidney360, 2020
Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD.
Wong EKS et al.
Frontiers in Immunology, 2020
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
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.
Cantsilieris S et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Complete functional characterization of disease-associated genetic variants in the complement factor H gene.
Merinero HM et al.
Kidney International, 2018
Disease-linked mutations in factor H reveal pivotal role of cofactor activity in self-surface-selective regulation of complement activation.
Kerr H et al.
The Journal of Biological Chemistry, 2017
A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.
Ding Y et al.
Scientific Reports, 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
The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.
Lim CH et al.
Oncotarget, 2016
Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.
Szarvas N et al.
Molecular Immunology, 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
Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.
Yu Y et al.
Human Molecular Genetics, 2014
Utility of next generation sequencing in clinical primary immunodeficiencies.
Raje N et al.
Current Allergy and Asthma Reports, 2014
Complement factor H mutation associated with membranoproliferative glomerulonephritis with transformation to atypical haemolytic uraemic syndrome.
Janssen van Doorn K et al.
Clinical Kidney Journal, 2013
Disease-associated N-terminal complement factor H mutations perturb cofactor and decay-accelerating activities.
Pechtl IC et al.
The Journal of Biological Chemistry, 2011
The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity.
Tortajada A et al.
Human Molecular Genetics, 2009
Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations.
Hocking HG et al.
The Journal of Biological Chemistry, 2008
The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.
Saunders RE et al.
Human Mutation, 2007