Genomes and Genes
factor H related protein 5
Gene Symbol: factor H related protein 5
Description: complement factor H-related 5
Alias: CFHL5, CFHR5D, FHR-5, FHR5, complement factor H-related protein 5, factor H-related protein 5
- The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degenerationHong Zhang
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
BMC Med Genet 9:51. 2008..Conditional logistic regression was used to determine significant gene-gene interactions. LRT was used to determine the best fit for each genotypic model tested (additive, dominant or recessive)...
- Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degenerationUmadevi Narendra
Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
Mol Vis 15:731-6. 2009..To investigate the complement factor H related 5 (CFHR5) gene, encoding a member of the complement factor H family, for the presence of genetic polymorphisms or mutations associated with age-related macular degeneration (AMD)...
- Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndromeG Monteferrante
Transplant Research Center Chiara Cucchi de Alessandri e Gilberto Crespi, Mario Negri Institute for Pharmacological Research, Villa Camozzi, Via Privata Camozzi 3, 24020 Ranica, Bergamo, Italy
Mol Immunol 44:1704-8. 2007..Based on these data, we conclude that, though not causative, CFHR5 genetic alterations may play a secondary role in the pathogenesis of HUS...
- Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)M A Abrera-Abeleda
Department of Otolaryngology, Division of Nephrology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA
J Med Genet 43:582-9. 2006....
- Human factor H-related protein 5 has cofactor activity, inhibits C3 convertase activity, binds heparin and C-reactive protein, and associates with lipoproteinJennifer L McRae
Department of Nephrology, Immunology Research Centre, St Vincent s Hospital Melbourne, Fitzroy, Victoria, Australia
J Immunol 174:6250-6. 2005....
- Human factor H-related protein 5 (FHR-5). A new complement-associated proteinJ L McRae
Department of Nephrology, St Vincent s Hospital, Fitzroy 3065, Australia
J Biol Chem 276:6747-54. 2001..The strong association of FHR-5 with tissue complement deposits in vivo suggests that this additional member of the Factor H family of proteins has a function in complement regulation...
- Factor H-related protein-5: a novel component of human glomerular immune depositsBrendan Murphy
Department of Nephrology, St Vincent s Hospital, Melbourne, Victoria, Australia
Am J Kidney Dis 39:24-7. 2002..This study shows FHR-5 to be strongly associated with glomerular complement deposition and suggests a role in complement activation or regulation. It may be an important mediator of glomerular disease...
- Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigreesYiannis Athanasiou
Department of Nephrology, Nicosia General Hospital, Nicosia, Cyprus
Clin J Am Soc Nephrol 6:1436-46. 2011..A subgroup of patients, particularly men, develop additional proteinuria, hypertension, and chronic renal disease or ESRD...
- Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritisDaniel P Gale
Division of Medicine, University College, London, UK
Lancet 376:794-801. 2010..We aimed to establish the genetic basis for a familial disorder of complement regulation associated with persistent microscopic haematuria, recurrent macroscopic haematuria, glomerulonephritis, and progressive renal failure...
- Complement factor H-related proteins CFHR2 and CFHR5 represent novel ligands for the infection-associated CRASP proteins of Borrelia burgdorferiCorinna Siegel
Institute of Medical Microbiology and Infection Control, University Hospital of Frankfurt, Frankfurt Main, Germany
PLoS ONE 5:e13519. 2010..In the present study we elucidate the role of the infection-associated CRASP-3 and CRASP-5 protein to serve as ligands for additional complement regulatory proteins as well as for complement resistance of B. burgdorferi...
- Recurrence of complement factor H-related protein 5 nephropathy in a renal transplantK A Vernon
Centre for Complement and Inflammation Research, Division of Immunology and Inflammation, Faculty of Medicine, Imperial College, London, UK
Am J Transplant 11:152-5. 2011..Strikingly, histological changes of CFHR5 nephropathy were evident in the donor kidney 46 days post-transplantation. This unique case demonstrates that renal-derived CFHR5 protein cannot prevent the development of CFHR5 nephropathy...
- Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degenerationGregory S Hageman
Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah, Salt Lake City, USA
Hum Genomics 5:420-40. 2011..Our test had an area under the curve of 0.80, reflecting a modest improvement compared with tests reported with fewer SNPs...
- Genome-wide association study identifies susceptibility loci for IgA nephropathyAli G Gharavi
Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, USA
Nat Genet 43:321-7. 2011....
- Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibilityJian Zhao
Division of Rheumatology, Department of Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America
PLoS Genet 7:e1002079. 2011....
- Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndromeTara K Maga
Interdepartmental PhD Program in Genetics, Division of Nephrology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
Hum Mutat 31:E1445-60. 2010..Twelve percent (12%) of patients carrying disease-associated genetic variants segregated mutations in more than one gene mandating comprehensive genetic testing in the diagnosis and management of these patients...
- Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndromeMaren Sullivan
Department of Nephrology, University Medical Center, Albert Ludwigs University, Freiburg, Germany
Ann Hum Genet 74:17-26. 2010..analyses were performed in the genes CFH, CD46 and CFI and in the six potential susceptibility genes, FHR1 to FHR5 and C4BP. Germline mutations were identified in 17% of the index cases; 12% in CFH, 3% in CD46 and 2% in CFI...
- Age-specific familial risks in common cancers of the offspringK Hemminki
Department of Biosciences at Novum, Karolinska Institute, Huddinge, Sweden
Int J Cancer 78:172-5. 1998..7 in all offspring, CI 95% 6.9-16.6), and testicular cancer (FHR 5.4, CI 95% 2.6-11...
- A prospective randomized trial of acute tocolysis in term labour with atosiban or ritodrineRoel De Heus
Department of Perinatology and Gynecology, University Medical Centre Utrecht, The Netherlands
Eur J Obstet Gynecol Reprod Biol 139:139-45. 2008..To study the effects of the tocolytics atosiban and ritodrine in term labour...
- Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implicationsGregory S Hageman
Department of Ophthalmology and Visual Sciences, Cell Biology and Functional Genomics Laboratory, The University of Iowa, 11190E PFP, 200 Hawkins Drive, Iowa City, Iowa 52240, USA
Ann Med 38:592-604. 2006..Aims and Methods. In this study, the structural and evolutionary relationships between these genes and AMD was refined using a combined genetic, molecular and immunohistochemical approach...
- De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndromeStefan Heinen
Department for Infection Biology, Hans Knoell Institute for Natural Products Research, Jena, Germany
Hum Mutat 27:292-3. 2006..is between the genes for factor H (CFH) and five factor H-related proteins--CFHL1, CFHL2, CFHL3, CFHL4, and CFHL5. CFH mutations are associated with atypical hemolytic uremic syndrome (aHUS)...
- Isolation and characterization of a novel rat factor H-related protein that is up-regulated in glomeruli under complement attackGuohui Ren
Section of Nephrology, Department of Medicine, The University of Chicago, Illinois 60637, USA
J Biol Chem 277:48351-8. 2002..Thus, we have identified a novel factor H family member in rats. This FHR protein is analogous to human FHR-5, both in structure and in potential involvement in glomerular immune complex diseases...
- Location and structure of the human FHR-5 geneJennifer L McRae
Department of Nephrology, St Vincent s Hospital, Fitzroy, Australia
Genetica 114:157-61. 2002..Furthermore, the short consensus repeats (SCRs) of FHR-5 are encoded by individual exons and splicing is of type 1. These data allow the generation of a more complete map of the factor H gene family...
- Complement-regulator factor H and related proteins in otitis media with effusionM Närkiö-Mäkelä
Department of Bacteriology and Immunology, University of Helsinki, Helsinki, Finland
Clin Immunol 100:118-26. 2001..Thus they may compete with FH in binding to C3b and interfere with the regulatory activity of FH. Consequently, a disturbance in AP control in the MEE may lead to an ongoing excessive C activation and inflammation in OME...
- Regulating complement in the kidney: insights from CFHR5 nephropathyDaniel P Gale
UCL Centre for Nephrology, Royal Free Hospital, London, NW3 2PF, UK
Dis Model Mech 4:721-6. 2011b>Complement factor H related protein 5 (CFHR5) nephropathy is a monogenic disorder of complement regulation that is endemic in Cyprus. The disease is characterised by haematuria, C3 glomerulonephritis and kidney failure...
- Development of Complement Modulating Therapeutics for AMDGregory Hageman; Fiscal Year: 2007....