ArticleJournal of the American Society of Nephrology : JASN2016
A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome.
Article in Journal of the American Society of Nephrology : JASN, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- C3 Glomerulonephritis Associated With Anti-complement Factor B Antibodies Following Anti-cancer Treatment With Pembrolizumab.Kidney medicine · 2026Article
- Late Onset Thrombotic Microangiopathy in Kidney Transplants; Poor Outcome Despite Eculizumab Treatment.Transplant international : official journal of the European Society for Organ Transplantation · 2025Article
- Outcomes from the International Society of Nephrology Hemolytic Uremic Syndromes International Forum.Kidney international · 2024Article
- Observational
- CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome.Journal of human genetics · 2023Article
- Diagnosis and treatment of thrombotic microangiopathy.International journal of laboratory hematology · 2022Review
- Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy.Kidney international · 2020Article
- Review
- Pathogenesis of Atypical Hemolytic Uremic Syndrome.Journal of atherosclerosis and thrombosis · 2019Review
- Haemolytic uremic syndrome: diagnosis and management.F1000Research · 2019Review
- Thrombotic microangiopathy after renal transplantation: Current insights inWorld journal of transplantation · 2018Review
- Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- The genetics of atypical hemolytic uremic syndrome.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2018Review
- Self-Damage Caused by Dysregulation of the Complement Alternative Pathway: Relevance of the Factor H Protein Family.Frontiers in immunology · 2018Review
- High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk AlleleFrontiers in immunology · 2018Article
- Diseases of complement dysregulation-an overview.Seminars in immunopathology · 2018Review
- Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland.Kidney international · 2017Article
- Complement C5-inhibiting therapy for the thrombotic microangiopathies: accumulating evidence, but not a panacea.Clinical kidney journal · 2017Article
- Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential.Clinical kidney journal · 2017Article
- Complementopathies.Blood reviews · 2017Review
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
Abstract
The regulators of complement activation cluster at chromosome 1q32 contains the complement factor H (CFH) and five complement factor H-related (CFHR) genes. This area of the genome arose from several large genomic duplications, and these low-copy repeats can cause genome instability in this region. Genomic disorders affecting these genes have been described in atypical hemolytic uremic syndrome, arising commonly through nonallelic homologous recombination. We describe a novel CFH/CFHR3 hybrid gene secondary to a de novo 6.3-kb deletion that arose through microhomology-mediated end joining rather than nonallelic homologous recombination. We confirmed a transcript from this hybrid gene and showed a secreted protein product that lacks the recognition domain of factor H and exhibits impaired cell surface complement regulation. The fact that the formation of this hybrid gene arose as a de novo event suggests that this cluster is a dynamic area of the genome in which additional genomic disorders may arise.
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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.