factor H related protein 5

Summary

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
Species: human

Top Publications

  1. pmc Regulating complement in the kidney: insights from CFHR5 nephropathy
    Daniel P Gale
    UCL Centre for Nephrology, Royal Free Hospital, London, NW3 2PF, UK
    Dis Model Mech 4:721-6. 2011
  2. pmc Genome-wide association study identifies susceptibility loci for IgA nephropathy
    Ali G Gharavi
    Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, USA
    Nat Genet 43:321-7. 2011
  3. pmc Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis
    Daniel P Gale
    Division of Medicine, University College, London, UK
    Lancet 376:794-801. 2010
  4. doi Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome
    Tara 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
  5. pmc Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees
    Yiannis Athanasiou
    Department of Nephrology, Nicosia General Hospital, Nicosia, Cyprus
    Clin J Am Soc Nephrol 6:1436-46. 2011
  6. pmc Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration
    Umadevi Narendra
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Mol Vis 15:731-6. 2009
  7. pmc The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration
    Hong Zhang
    Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
    BMC Med Genet 9:51. 2008
  8. ncbi Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome
    G 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
  9. pmc 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
  10. ncbi Human factor H-related protein 5 has cofactor activity, inhibits C3 convertase activity, binds heparin and C-reactive protein, and associates with lipoprotein
    Jennifer L McRae
    Department of Nephrology, Immunology Research Centre, St Vincent s Hospital Melbourne, Fitzroy, Victoria, Australia
    J Immunol 174:6250-6. 2005

Scientific Experts

  • Daniel P Gale
  • Constantinos Deltas
  • J L McRae
  • Andreas Kousios
  • S Sethi
  • A Servais
  • Christine Skerka
  • Frances M K Williams
  • VERNON MICHAEL HOLERS
  • Dineke Westra
  • Hong Zhang
  • Roel De Heus
  • P Kraiczy
  • G S Hageman
  • K A Vernon
  • K Hemminki
  • Konstantinos Voskarides
  • Yiannis Athanasiou
  • Peter F Zipfel
  • Agustín Tortajada
  • Matthew C Pickering
  • Alkis Pierides
  • Teresia Hallström
  • Mihaly Jozsi
  • Richard J H Smith
  • Barbara Uzonyi
  • H Terence Cook
  • Santiago Rodriguez de Cordoba
  • Corinna Siegel
  • Pingbo Zhang
  • Qian Chen
  • Ya Ling Zhai
  • Fengxiao Bu
  • Anne E Hughes
  • Amalia Conti
  • Nicolo Ghiringhelli Borsa
  • Xue Xiao
  • Adám I Csincsi
  • Elena Goicoechea de Jorge
  • Ganesh Kumar Viswanathan
  • Nicholas Medjeral-Thomas
  • Nesrin Besbas
  • Sharon A Chung
  • Talat H Malik
  • Li Zhu
  • Adam C Naj
  • Thomas D Barbour
  • Betty P Tsao
  • Carl D Langefeld
  • Jeffrey C Edberg
  • Avraam Elia
  • John B Harley
  • Patrick M Gaffney
  • Robert P Kimberly
  • Jennifer A Kelly
  • Barry I Freedman
  • Lindsey A Criswell
  • Marta E Alarcon-Riquelme
  • Chaim O Jacob
  • Adrienne H Williams
  • Maria Arsali
  • Elizabeth E Brown
  • Patrick H Maxwell
  • Bridget Charbonneau
  • Panayiota Demosthenous
  • Claudia Hammerschmidt
  • Michalis Zavros
  • Gregory Papagregoriou
  • Jian Zhao
  • Reinhard Wallich
  • Ali G Gharavi
  • Brian Stevenson
  • Tara K Maga
  • Maren Sullivan
  • Pilar Sanchez-Corral
  • Umadevi Narendra
  • Timothy H J Goodship
  • G Monteferrante
  • M A Abrera-Abeleda
  • Stefan Heinen
  • Si Jun Meng
  • Ming Hui Zhao
  • Piero Picci
  • Maria Serena Benassi
  • Debra Schaumberg
  • Christie P Thomas
  • Yuzhou Zhang
  • Christine A Curcio
  • Diana L Kolbe
  • Michael Jones

Detail Information

Publications64

  1. pmc Regulating complement in the kidney: insights from CFHR5 nephropathy
    Daniel P Gale
    UCL Centre for Nephrology, Royal Free Hospital, London, NW3 2PF, UK
    Dis Model Mech 4:721-6. 2011
    b>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...
  2. pmc Genome-wide association study identifies susceptibility loci for IgA nephropathy
    Ali G Gharavi
    Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, USA
    Nat Genet 43:321-7. 2011
    ....
  3. pmc Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis
    Daniel 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...
  4. doi Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome
    Tara 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...
  5. pmc Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees
    Yiannis 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...
  6. pmc Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration
    Umadevi 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)...
  7. pmc The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration
    Hong 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)...
  8. ncbi Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome
    G 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...
  9. pmc 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
    ....
  10. ncbi Human factor H-related protein 5 has cofactor activity, inhibits C3 convertase activity, binds heparin and C-reactive protein, and associates with lipoprotein
    Jennifer L McRae
    Department of Nephrology, Immunology Research Centre, St Vincent s Hospital Melbourne, Fitzroy, Victoria, Australia
    J Immunol 174:6250-6. 2005
    ....
  11. ncbi Location and structure of the human FHR-5 gene
    Jennifer 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...
  12. ncbi Factor H-related protein-5: a novel component of human glomerular immune deposits
    Brendan 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...
  13. ncbi Human factor H-related protein 5 (FHR-5). A new complement-associated protein
    J 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...
  14. pmc A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry
    Nicholas Medjeral-Thomas
    Centre for Complement and Inflammation Research, Imperial College, London, UK
    Kidney Int 85:933-7. 2014
    ..Since CFHR5(1212-9) can result from at least two genomic rearrangements, screening is most readily achieved through analysis of CFHR5 protein. ..
  15. pmc Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis
    Adam C Naj
    Department of Biostatistics and Epidemiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
    Ann Hum Genet 77:215-31. 2013
    ..57, P = 2.73 × 10(-5) ), with an inverse association among smokers (OR = 1.42, P = 0.00228), suggesting that smoking modifies the effect of some genetic polymorphisms on AMD risk...
  16. pmc CspA from Borrelia burgdorferi inhibits the terminal complement pathway
    Teresia Hallström
    Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Hans Knöll Institute, Jena, Germany
    MBio 4:. 2013
    ..This CspA-mediated serum resistance and terminal complement pathway inhibition allow B. burgdorferi to survive in the hostile environment of human plasma...
  17. doi A novel CFHR5 mutation associated with C3 glomerulonephritis in a Turkish girl
    Nesrin Besbas
    Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey
    J Nephrol 27:457-60. 2014
    ..Eculizumab seems to be ineffective in this subtype. ..
  18. pmc Lupus nephritis susceptibility loci in women with systemic lupus erythematosus
    Sharon A Chung
    Division of Rheumatology, Rosalind Russell Ephraim P Engleman Medical Research Center for Arthritis, University of California, San Francisco, California
    J Am Soc Nephrol 25:2859-70. 2014
    ..Results from this large-scale genome-wide investigation of lupus nephritis provide evidence of multiple biologically relevant lupus nephritis susceptibility loci...
  19. doi Does complement Factor H-Related protein 5 Nephropathy (Troodos Nephropathy) protect from rickettsial infections?
    Andreas Kousios
    Department of Nephrology, Nicosia General Hospital, Nicosia Limassol Old Road, No 215, 2049 Nicosia, Cyprus Electronic address
    Med Hypotheses 98:76-80. 2017
    ..Confirming this hypothesis, could have significant implications for the study of Complement Factor- H Related Proteins (CFHRs) in renal diseases and rickettsial molecular microbiology...
  20. pmc Factor H-related protein 5 interacts with pentraxin 3 and the extracellular matrix and modulates complement activation
    Adám I Csincsi
    Hungarian Academy of Sciences Eötvös Loránd University Lendület Complement Research Group, Department of Immunology, Eotvos Lorand University, 1117 Budapest, Hungary
    J Immunol 194:4963-73. 2015
    ..Thus, CFHR5 may locally enhance complement activation via interference with the complement-inhibiting function of FH, by enhancement of C1q binding, and by activating complement, thereby contributing to glomerular disease. ..
  21. pmc Clinico-pathologic spectrum of C3 glomerulopathy-an Indian experience
    Ganesh Kumar Viswanathan
    Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India
    Diagn Pathol 10:6. 2015
    ..in the glomeruli and categorized into dense deposit disease (DDD), C3 glomerulonephritis (C3GN), complement factor H related protein 5(CFHR5) nephropathy etc...
  22. doi Factor H-related proteins determine complement-activating surfaces
    Mihaly Jozsi
    MTA ELTE Lendület Complement Research Group, Department of Immunology, Eotvos Lorand University, Budapest, Hungary
    Trends Immunol 36:374-84. 2015
    ....
  23. pmc High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies
    Fengxiao Bu
    Interdisciplinary PhD Program in Genetics, Molecular Otolaryngology and Renal Research Laboratories
    J Am Soc Nephrol 27:1245-53. 2016
    ..In summary, we were able to provide a positive genetic diagnosis in 43% and 41% of patients carrying the clinical diagnosis of C3G and TMA, respectively...
  24. pmc Complement Factor H-Related 5-Hybrid Proteins Anchor Properdin and Activate Complement at Self-Surfaces
    Qian Chen
    Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany
    J Am Soc Nephrol 27:1413-25. 2016
    ....
  25. doi Identification of novel candidate circulating biomarkers for malignant soft tissue sarcomas: Correlation with metastatic progression
    Amalia Conti
    Laboratory of Experimental Oncology, Istituto Ortopedico Rizzoli, Bologna, Italy
    Proteomics 16:689-97. 2016
    ..In particular, CFHR5 was associated with the risk of metastasis. The role of circulating proteins involved in metastatic progression will be crucial for a better understanding of STS biology and patient management. ..
  26. pmc Rare Variants in the Complement Factor H-Related Protein 5 Gene Contribute to Genetic Susceptibility to IgA Nephropathy
    Ya Ling Zhai
    Renal Division, Department of Medicine, Peking University First Hospital, Beijing, China Institute of Nephrology, Peking University, Beijing, China Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China and Key Laboratory of Chronic Kidney Disease Prevention and Treatment Peking University, Ministry of Education, Beijing, China
    J Am Soc Nephrol 27:2894-905. 2016
    ..Leu259Termination) showed less C3b binding (56.89%±0.57%; P<0.001). Our study found that rare variants in CFHR5 may contribute to the genetic susceptibility to IgAN, which suggests that CFHR5 is an IgAN susceptibility gene. ..
  27. pmc Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk
    Anne E Hughes
    Formerly of Centre for Public Health Queen s University Belfast, Belfast, United Kingdom
    Invest Ophthalmol Vis Sci 57:2763-9. 2016
    ..To investigate how potentially functional genetic variants are coinherited on each of four common complement factor H (CFH) and CFH-related gene haplotypes and to measure expression of these genes in eye and liver tissues...
  28. doi Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene
    Xue Xiao
    Molecular Otolaryngology and Renal Research Laboratories, Caver College of Medicine, University of Iowa, Iowa City, IA, USA Interdepartmental PhD Program in Genetics, Caver College of Medicine, University of Iowa, Iowa City, IA, USA
    Mol Immunol 77:89-96. 2016
    ..These data highlight the role of factor H related proteins in the control of complement activity and illustrate how perturbation of that control leads to C3G. ..
  29. doi A novel, multiplexed targeted mass spectrometry assay for quantification of complement factor H (CFH) variants and CFH-related proteins 1-5 in human plasma
    Pingbo Zhang
    Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD
    Proteomics . 2016
    ..64 (1.20), 0.020 (0.001), 2.42 (0.18), and 5.49 (1.55) μg/mL, respectively. This SRM assay should facilitate the study of the role of systemic complement and risk of AMD. This article is protected by copyright. All rights reserved...
  30. pmc Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene
    Dineke Westra
    Department of Pediatric Nephrology, Radboud University Medical Centre, Nijmegen, The Netherlands
    J Hum Genet 57:459-64. 2012
    ..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...
  31. pmc The role of molecular genetics in diagnosing familial hematuria(s)
    Constantinos Deltas
    Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Kallipoleos 75, 1678 Nicosia, Cyprus
    Pediatr Nephrol 27:1221-31. 2012
    ....
  32. doi Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria
    Konstantinos Voskarides
    Department of Biological Sciences, Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Kallipoleos 75, 1678 Nicosia, Cyprus
    Pediatr Nephrol 27:675-9. 2012
    ..A similar progression is observed in CFHR5 nephropathy. Recent evidence suggests that NPHS2-R229Q, a podocin polymorphism, may contribute to proteinuria in TBMN and to micro-albuminuria in the general population...
  33. doi Molecular genetics of familial hematuric diseases
    Constantinos Deltas
    Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus
    Nephrol Dial Transplant 28:2946-60. 2013
    ..The study of such genes and their protein products will likely shed more light on the structure and function of the glomerular filtration barrier and other important glomerular components. ..
  34. pmc A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy
    Gregory Papagregoriou
    Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus
    PLoS ONE 7:e31021. 2012
    ..No similar association was detected in a cohort of patients with thin basement membrane nephropathy. This is the first report associating a miRSNP as genetic modifier to a monogenic renal disorder...
  35. doi Complement factor H related proteins (CFHRs)
    Christine Skerka
    Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany
    Mol Immunol 56:170-80. 2013
    ..Here we summarize the recent data about CFHR genes and proteins in order to better understand the role of CFHR proteins in complement activation and in complement associated diseases. ..
  36. pmc C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation
    Agustín Tortajada
    Centro de Investigaciones Biologicas, Consejo Superior de Investigaciones Cientificas, Madrid, Spain
    J Clin Invest 123:2434-46. 2013
    ..resulted in the duplication of the N-terminal short consensus repeats (SCRs) that are conserved in FHR2 and FHR5. We determined that native FHR1, FHR2, and FHR5 circulate in plasma as homo- and hetero-oligomeric complexes, the ..
  37. pmc Human C3 glomerulopathy provides unique insights into complement factor H-related protein function
    V Michael Holers
    Department of Medicine, Division of Rheumatology, University of Colorado School of Medicine, Aurora, Colorado 80045, USA
    J Clin Invest 123:2357-60. 2013
    ..an unexpected mechanism of action of FHR1, wherein homodimeration and hetero- oligomerization with FHR2 and FHR5 generates more avid molecules that very effectively compete with FH binding to surfaces and impair its ability to ..
  38. doi C3 glomerulopathy
    Aude Servais
    Department of a Nephrology, Service de néphrologie adultes, Hopital Necker, 149, rue de Sevres, FR 75015 Paris, France
    Contrib Nephrol 181:185-93. 2013
    ..Administration of recombinant FH if it becomes available or replacement of FH via plasma exchange may be efficacious in the cases of FH deficiency. However, therapeutic inhibition of complement C3 and C5 is the main perspective...
  39. pmc Contribution of the infection-associated complement regulator-acquiring surface protein 4 (ErpC) to complement resistance of Borrelia burgdorferi
    Claudia Hammerschmidt
    Institute of Medical Microbiology and Infection Control, Frankfurt University Hospital, Frankfurt, Germany
    Clin Dev Immunol 2012:349657. 2012
    ..burgdorferi...
  40. pmc Recent insights into C3 glomerulopathy
    Thomas D Barbour
    Centre for Complement and Inflammation Research CCIR, Division of Immunology and Inflammation, Department of Medicine, Imperial College London, London W12 0NN, UK
    Nephrol Dial Transplant 28:1685-93. 2013
    ..However, limits to current knowledge regarding the natural history and the appropriate timing and duration of proposed therapies need to be addressed. ..
  41. ncbi C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families
    Constantinos Deltas
    Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Kallipoleos 75, 1678 Nicosia, Cyprus
    Adv Exp Med Biol 735:189-96. 2013
    ..About 50% of patients over 50 years have progressed to CKD, and 14% of all patients progressed to ESKD. It is not quite well understood why males run a much higher risk to progress to CKD, compared to women...
  42. pmc Ischemic stroke is associated with the ABO locus: the EuroCLOT study
    Frances M K Williams
    Department of Twin Research and Genetic Epidemiology, King s College London, United Kingdom
    Ann Neurol 73:16-31. 2013
    ..We explored whether genetic variants associated with end-stage coagulation in healthy volunteers account for the genetic predisposition to ischemic stroke and examined their influence on stroke subtype...
  43. doi How benign is hematuria? Using genetics to predict prognosis
    Daniel P Gale
    University College London Centre for Nephrology, Royal Free Hospital Pond Street, London, NW3 2QG, UK
    Pediatr Nephrol 28:1183-93. 2013
    ..Genetic testing for these conditions used in clinical practice can provide important diagnostic and prognostic information that is relevant to the patient and their family, particularly when kidney transplantation is considered. ..
  44. pmc Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement
    Sanjeev Sethi
    Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Kidney Int 83:293-9. 2013
    ..Hence, the sequela is continual glomerular deposition of complement factors with resultant inflammation and development of an 'atypical' postinfectious glomerulonephritis...
  45. pmc Complement regulator-acquiring surface proteins of Borrelia burgdorferi: Structure, function and regulation of gene expression
    Peter Kraiczy
    Institute of Medical Microbiology and Infection Control, Frankfurt University Hospital, Paul Ehrlich Strasse 40, 6 Frankfurt, Germany
    Ticks Tick Borne Dis 4:26-34. 2013
    ..In this review, we focus on the current knowledge on structure, function, and gene regulation of these B. burgdorferi infection-associated proteins...
  46. doi C3 glomerulonephritis and CFHR5 nephropathy
    Daniel P Gale
    Centre for Nephrology, Division of Medicine, University College London, London, UK
    Nephrol Dial Transplant 28:282-8. 2013
    ..An exciting challenge is to determine whether this can be applied to kidney diseases that are caused by complement dysregulation, and also whether they might be used to intervene in other kidney diseases...
  47. pmc Epistatic role of the MYH9/APOL1 region on familial hematuria genes
    Konstantinos Voskarides
    Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus
    PLoS ONE 8:e57925. 2013
    ..Our results derive additional evidence supporting previous reports according to which MYH9 is an important gene per se, predisposing to CKD, suggesting its usefulness as a prognostic marker for young hematuric patients...
  48. ncbi C3 Glomerulonephritis/CFHR5 Nephropathy Is an Endemic Disease in Cyprus: Clinical and Molecular Findings in 21 Families
    Constantinos Deltas
    Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Kallipoleos 75, 1678, Nicosia, Cyprus
    Adv Exp Med Biol 734:189-96. 2013
    ..About 50% of patients over 50 years have progressed to CKD, and 14% of all patients progressed to ESKD. It is not quite well understood why males run a much higher risk to progress to CKD, compared to women...
  49. pmc Germline variation in complement genes and event-free survival in follicular and diffuse large B-cell lymphoma
    Bridget Charbonneau
    Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Am J Hematol 87:880-5. 2012
    ..1, along with C9, were associated with FL EFS after adjusting for clinical variables, and if replicated, these findings add further support for the role of host innate immunity in FL prognosis...
  50. pmc Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor H-related protein 5 deficiency
    Katherine A Vernon
    Centre for Complement and Inflammation Research, Imperial College, London, United Kingdom
    Am J Kidney Dis 60:121-5. 2012
    ..We speculate that this heterozygous CFHR5 sequence variant is a risk factor for the development of chronic kidney disease after streptococcal infection...
  51. ncbi Age-specific familial risks in common cancers of the offspring
    K 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...
  52. ncbi Complement-regulator factor H and related proteins in otitis media with effusion
    M 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...
  53. ncbi Isolation and characterization of a novel rat factor H-related protein that is up-regulated in glomeruli under complement attack
    Guohui 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...
  54. ncbi De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome
    Stefan 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)...
  55. pmc 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 implications
    Gregory 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...
  56. doi A prospective randomized trial of acute tocolysis in term labour with atosiban or ritodrine
    Roel 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...
  57. doi Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome
    Maren 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...
  58. pmc Complement factor H-related proteins CFHR2 and CFHR5 represent novel ligands for the infection-associated CRASP proteins of Borrelia burgdorferi
    Corinna 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...
  59. pmc Recurrence of complement factor H-related protein 5 nephropathy in a renal transplant
    K 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...
  60. pmc Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility
    Jian 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
    ....
  61. pmc Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration
    Gregory 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...