ArticleJournal of human genetics2012
Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.
Article in Journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
26 citing papers in PubMed, 42 citations in OpenAlex.
- CFHR5 Nephropathy Case Report: A Novel Variant Characterized by Tubulointerstitial Kidney Disease.Kidney & blood pressure research · 2025Article
- Complement dysregulation associated with a genetic variant in factor H-related protein 5 in atypical hemolytic uremic syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- Mutations in the alternative complement pathway in multiple myeloma patients with carfilzomib-induced thrombotic microangiopathy.Blood cancer journal · 2023Article
- Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.Immunological reviews · 2023Review
- Genetic investigation of Nordic patients with complement-mediated kidney diseases.Frontiers in immunology · 2023Article
- AnFrontiers in immunology · 2023Article
- Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria.Pediatric nephrology (Berlin, Germany) · 2022Article
- Complement Factor I Variants in Complement-Mediated Renal Diseases.Frontiers in immunology · 2022Article
- FHR-5 Serum Levels andFrontiers in immunology · 2021Article
- Personalized medicine in chronic kidney disease by detection of monogenic mutations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2020Review
- Review
- Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2019Article
- Thrombotic microangiopathy in a patient with eosinophilic granulomatosis with polyangiitis: case-based review.Rheumatology international · 2019Review
- Regorafenib Prior to Selective Internal Radiation Therapy UsingFrontiers in oncology · 2019Article
- CFHR5 Nephropathy in a Greek-Cypriot Australian Family: Ancestry-Informed Precision Medicine.Kidney international reports · 2018Article
- Reference Intervals of Factor H and Factor H-Related Proteins in Healthy Children.Frontiers in immunology · 2018Article
- Interpretation of Serological Complement Biomarkers in Disease.Frontiers in immunology · 2018Review
- Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma.Frontiers in immunology · 2017Article
- Atypical hemolytic uremic syndrome: a clinical conundrum.Pediatric nephrology (Berlin, Germany) · 2016Article
- Rare Variants in the Complement Factor H-Related Protein 5 Gene Contribute to Genetic Susceptibility to IgA Nephropathy.Journal of the American Society of Nephrology : JASN · 2016Article
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Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
Abstract
Atypical hemolytic uremic syndrome (aHUS) is a severe renal disorder that is associated with mutations in genes encoding proteins of the alternative complement pathway. Previously, we identified pathogenic variations in genes encoding complement regulators (CFH, CFI and MCP) in our aHUS cohort. In this study, we screened for mutations in the alternative pathway regulator CFHR5 in 65 aHUS patients by means of PCR on genomic DNA and sequence analysis. Potential pathogenicity of genetic alterations was determined by published data on CFHR5 variants, evolutionary conservation and in silico mutation prediction programs. Detection of serum CFHR5 was performed by western blot analysis and enzyme-linked immunosorbent assay. A potentially pathogenic sequence variation was found in CFHR5 in three patients (4.6%). All variations were located in short consensus repeats that might be involved in binding to C3b, heparin or C-reactive protein. The identified CFHR5 mutations require functional studies to determine their relevance to aHUS, but they might be candidates for an altered genetic profile predisposing to the disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.