A5025137286- Retinal Diseases and Treatments
- Complement system in diseases
- Renal Diseases and Glomerulopathies
- Retinal Imaging and Analysis
- Retinal Development and Disorders
- Retinoids in leukemia and cellular processes
- Folate and B Vitamins Research
- Ocular Diseases and Behçet’s Syndrome
- Urban and Freight Transport Logistics
- Lysosomal Storage Disorders Research
- Protein purification and stability
- Microfluidic and Capillary Electrophoresis Applications
- Environmental Education and Sustainability
- CRISPR and Genetic Engineering
- Adenosine and Purinergic Signaling
- Innovative Microfluidic and Catalytic Techniques Innovation
- Energy, Environment, Agriculture Analysis
- Mosquito-borne diseases and control
- Platelet Disorders and Treatments
- Genomics and Rare Diseases
Radboud University Nijmegen
2018-2023
Radboud University Medical Center
2018-2023
University of Tübingen
2022
STZ eyetrial
2022
University Medical Center
2020-2021
Lund University
2017
Utrecht University
2015
PurposeTo develop a genotype assay to assess associations with common and rare age-related macular degeneration (AMD) risk variants, calculate an overall genetic score (GRS), identify potential misdiagnoses inherited dystrophies that mimic AMD.DesignCase-control study.ParticipantsIndividuals (n = 4740) from 5 European cohorts.MethodsWe designed single-molecule molecular inversion probes for target selection used next generation sequencing sequence 87 single nucleotide polymorphisms (SNPs),...
Abstract Factor I (FI) is one of the main inhibitors complement activity, and numerous rare coding variants have been reported in patients with age-related macular degeneration, atypical hemolytic uremic syndrome C3 glomerulopathy. Since many these are unknown clinical significance, this study aimed to determine effect factor (CFI) gene on FI expression. We measured levels plasma samples carriers vitro supernatants epithelial cells expressing recombinant FI. were 177 155 individuals,...
Complement factor I (FI) is a central inhibitor of the complement system, and impaired FI function increases activation, contributing to diseases such as age-related macular degeneration (AMD) atypical hemolytic uremic syndrome (aHUS). Genetic variation in ( CFI ) has been identified both AMD aHUS, with more than half these variants leading reduced secretion levels. For many normal secretion, however, functional implications are not yet known. Here we studied 11 rare missense variants,...
Age-related macular degeneration (AMD) is a progressive disease of the central retina and leading cause irreversible vision loss in western world. The involvement abnormal complement activation AMD has been suggested by association variants genes encoding proteins with development. A low-frequency variant (p.P167S) component C9 (C9) gene was recently shown to be highly associated AMD; however, its functional outcome remains largely unexplored. In this study, we reveal five novel rare genetic...
Age-related macular degeneration (AMD) is a major cause of vision loss among the elderly in Western world. Genetic variants complement factor H (CFH) gene are associated with AMD, but functional consequences many these currently unknown. In this study, we aimed to determine effect 64 rare and low-frequency CFH on systemic levels (FH) activation marker C3bBbP using plasma samples 252 carriers 159 non-carriers. Individuals carrying heterozygous nonsense, frameshift or missense variant...
Abstract Purpose Genetic variants in complement genes are associated with age-related macular degeneration (AMD). However, many rare have been identified these genes, but an unknown significance, and their impact on protein function structure is still unknown. We set out to address this issue by evaluating the spatial placement structureof developing analytical pipeline applying it International AMD Genomics Consortium (IAMDGC) dataset (16,144 cases, 17,832 controls). Methods The IAMDGC was...
Age-related macular degeneration (AMD) is a common eye disease among the elderly in Western world. AMD multifactorial disease, with strong association genetic variation complement system. One of AMD-associated variants c.355G>A (p.Gly119Arg) variant factor I (CFI), central regulator activation. Here, we report generation an iPSC line and its isogenic wildtype control derived from peripheral blood mononuclear cells female AMD-affected individual carrying heterozygous (p.Gly119Arg). This can...
Age-related macular degeneration (AMD) is a common eye disease among the elderly in Western world. AMD multifactorial disease, with strong association genetic variation complement system. One of AMD-associated variants c.355G>A (p.Gly119Arg) variant factor I (CFI), central regulator activation. Here, we report generation an iPSC line and its isogenic wildtype control derived from peripheral blood mononuclear cells male AMD-affected individual carrying heterozygous (p.Gly119Arg). The can be...