Associated Papers
Navigating Pediatric Atypical Hemolytic Uremic Syndrome: A Two-Year Case Series From Eastern India.
Swarnim S et al.
Cureus, 2025
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
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
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
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 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
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
A Novel Full-Length Recombinant Human Complement Factor H (CFH; GEM103) for the Treatment of Age-Related Macular Degeneration Shows Similar In Vitro Functional Activity to Native CFH.
Biggs RM et al.
Current Eye Research, 2022
Ravulizumab in Preemptive Living Donor Kidney Transplantation in Hereditary Atypical Hemolytic Uremic Syndrome.
Schmidt T et al.
Transplantation Direct, 2022
Modeling C3 glomerulopathies: C3 convertase regulation on an extracellular matrix surface.
Pisarenka S 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
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
Exome sequencing for diagnosis of congenital hemolytic anemia.
Mansour-Hendili L et al.
Orphanet Journal of Rare Diseases, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 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
Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.
Shoshany N et al.
Genes, 2019
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Taylor RL et al.
Ophthalmology, 2019
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
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
Complement factor H in AMD: Bridging genetic associations and pathobiology.
Toomey CB et al.
Progress in Retinal and Eye Research, 2018
Diseases of complement dysregulation-an overview.
Wong EKS et al.
Seminars in Immunopathology, 2018
Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine.
Maugeri A et al.
Biomed Research International, 2018
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
Functional Characterization of the Disease-Associated N-Terminal Complement Factor H Mutation W198R.
Cserhalmi M et al.
Frontiers in Immunology, 2017
Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.
Wagner EK et al.
Scientific Reports, 2016
AMD and the alternative complement pathway: genetics and functional implications.
Tan PL et al.
Human Genomics, 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
Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration.
Triebwasser MP et al.
Investigative Ophthalmology & Visual Science, 2015
Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.
Pras E et al.
Journal of Medical Genetics, 2015
Role of Factor H and Related Proteins in Regulating Complement Activation in the Macula, and Relevance to Age-Related Macular Degeneration.
Clark SJ et al.
Journal of Clinical Medicine, 2015
Age-related macular degeneration: a complementopathy?
Kijlstra A et al.
Ophthalmic Research, 2015
An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document.
Campistol JM et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 2015
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
Making sense of the spectrum of glomerular disease associated with complement dysregulation.
Johnson SA et al.
Pediatric Nephrology (berlin, Germany), 2014
Genetic variants in the complement system predisposing to age-related macular degeneration: a review.
Schramm EC et al.
Molecular Immunology, 2014
Eculizumab for atypical hemolytic uremic syndrome in pregnancy.
Ardissino G et al.
Obstetrics and Gynecology, 2013
Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.
Fremeaux-Bacchi V et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
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