ArticleAmerican journal of human genetics1999
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 123 citations in OpenAlex.
- Individual Genomic Loci, Transcript Levels, and Serum Profiles of Immune and Antioxidant Markers Associated with Bacteria-Induced Abortion in Sheep (Veterinary sciences · 2025Article
- A mutant complement factor H (W1183R) enhances proteolytic cleavage of von Willebrand factor by ADAMTS-13 under shear.Journal of thrombosis and haemostasis : JTH · 2025Article
- Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.Blood vessels, thrombosis & hemostasis · 2024Article
- Biomarkers for Inner Ear Disorders: Scoping Review on the Role of Biomarkers in Hearing and Balance Disorders.Diagnostics (Basel, Switzerland) · 2020Article
- Opposite Profiles of Complement in Antiphospholipid Syndrome (APS) and Systemic Lupus Erythematosus (SLE) Among Patients With Antiphospholipid Antibodies (aPL).Frontiers in immunology · 2019Article
- 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
- Complement factor H in AMD: Bridging genetic associations and pathobiology.Progress in retinal and eye research · 2018Review
- Atypical hemolytic-uremic syndrome due to complement factor I mutation.World journal of nephrology · 2017Article
- Complement factor H in host defense and immune evasion.Cellular and molecular life sciences : CMLS · 2017Review
- The Genetics of Ultra-Rare Renal Disease.Journal of pediatric genetics · 2016Review
- Eculizumab in neonatal hemolytic uremic syndrome with homozygous factor H deficiency.Pediatric nephrology (Berlin, Germany) · 2014Article
- New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.Bioscience reports · 2014Article
- Complement factor H gene associations with end-stage kidney disease in African Americans.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2014Article
- Idiopathic Atypical Hemolytic Uremic Syndrome (aHUS) with Trilineage Myelodysplasia.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2012Article
- Genetic association and gene-gene interaction analyses in African American dialysis patients with nondiabetic nephropathy.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2012Article
- Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.Clinical & developmental immunology · 2012Review
- Mesenchymal stem cells inhibit complement activation by secreting factor H.Stem cells and development · 2010Article
- Complement control protein factor H: the good, the bad, and the inadequate.Molecular immunology · 2010Review
- Serum cystatin C level, kidney disease markers, and incidence of age-related macular degeneration: the Beaver Dam Eye Study.Archives of ophthalmology (Chicago, Ill. : 1960) · 2009Article
- Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals.Clinical and experimental immunology · 2008Review
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9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Atypical hemolytic uremic syndrome (HUS) presents with the clinical features of hypertension, microangiopathic hemolytic anemia, and acute renal failure. Both dominant and recessive modes of inheritance have been reported. This study describes the genetic and functional analysis of a large Bedouin kindred with autosomal recessive HUS. The kindred consists of several related nuclear families in which all parent unions of affected children are consanguineous. A previous report demonstrated that a dominant form of HUS maps to chromosome 1q and that complement factor H (CFH), a regulatory component of the complement system, lies within the region and is involved in the dominant disorder. Early-onset and persistent hypocomplementemia in this Bedouin kindred prompted us to evaluate the CFH gene. Linkage analysis was performed, demonstrating linkage between the disorder and the markers near the CFH gene. Mutation analysis of the CFH coding region revealed a single missense mutation. Functional analyses demonstrate that the mutant CFH is properly expressed and synthesized but that it is not transported normally from the cell. This is the first study reporting that a recessive, atypical, early-onset, and relapsing HUS is associated with the CFH protein and that a CFH mutation affects intracellular trafficking and secretion.
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