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    CFHR5 complement factor H related 5 [ Homo sapiens (human) ]

    Gene ID: 81494, updated on 6-Aug-2017

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Our study found that rare variants in CFHR5 may contribute to the genetic susceptibility to IgA Nephropathy, which suggests that CFHR5 is an IgA Nephropathy susceptibility gene

    Rare Variants in the Complement Factor H-Related Protein 5 Gene Contribute to Genetic Susceptibility to IgA Nephropathy.
    Zhai YL, Meng SJ, Zhu L, Shi SF, Wang SX, Liu LJ, Lv JC, Yu F, Zhao MH, Zhang H.,

    05/27/2017
    Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins. [CFHR5]

    Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
    Hughes AE, Bridgett S, Meng W, Li M, Curcio CA, Stambolian D, Bradley DT., Free PMC Article

    06/16/2016
    Studies indicate that complement factor H-related proteins (FHR1-5) may enhance complement activation, with important implications for the role of these proteins in disease.

    Factor H-related proteins determine complement-activating surfaces.
    Józsi M, Tortajada A, Uzonyi B, Goicoechea de Jorge E, Rodríguez de Córdoba S.

    04/2/2016
    In this study, we identify pentraxin 3 (PTX3) as a novel ligand of CFHR5

    Factor H-related protein 5 interacts with pentraxin 3 and the extracellular matrix and modulates complement activation.
    Csincsi ÁI, Kopp A, Zöldi M, Bánlaki Z, Uzonyi B, Hebecker M, Caesar JJ, Pickering MC, Daigo K, Hamakubo T, Lea SM, Goicoechea de Jorge E, Józsi M., Free PMC Article

    07/25/2015
    At least two distinct intronic breakpoints within the CFHR5 gene can cause the same mutant CFHR5 protein and C3 glomerulopathy.

    A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry.
    Medjeral-Thomas N, Malik TH, Patel MP, Toth T, Cook HT, Tomson C, Pickering MC., Free PMC Article

    12/20/2014
    A hybrid CFHR2-CFHR5 plasma protein, arising from a chromosomal deletion mutation stabilizes the C3 convertase and reduces factor H-mediated convertase decay.

    Complement factor H-related hybrid protein deregulates complement in dense deposit disease.
    Chen Q, Wiesener M, Eberhardt HU, Hartmann A, Uzonyi B, Kirschfink M, Amann K, Buettner M, Goodship T, Hugo C, Skerka C, Zipfel PF., Free PMC Article

    03/8/2014
    Recent investigations in London and Cyprus culminated in the identification of another autosomal dominant condition that presents with microscopic haematuria because of heterozygous mutations in the CFHR5 gene--{review}

    C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.
    Deltas C, Gale D, Cook T, Voskarides K, Athanasiou Y, Pierides A.

    03/9/2013
    A potentially pathogenic sequence variation was found in CFHR5 in the patients with atypical hemolytic uremic syndrome.

    Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.
    Westra D, Vernon KA, Volokhina EB, Pickering MC, van de Kar NC, van den Heuvel LP., Free PMC Article

    12/8/2012
    CFHR5 nephropathy is discussed.

    Regulating complement in the kidney: insights from CFHR5 nephropathy.
    Gale DP, Pickering MC., Free PMC Article

    03/10/2012
    Describe the clinical course, significant variable expressivity, and marked gender difference regarding the development of chronic renal failure in familial C3 glomerulopathy associated with CFHR5 mutations.

    Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees.
    Athanasiou Y, Voskarides K, Gale DP, Damianou L, Patsias C, Zavros M, Maxwell PH, Cook HT, Demosthenous P, Hadjisavvas A, Kyriacou K, Zouvani I, Pierides A, Deltas C., Free PMC Article

    10/1/2011
    evidence for an inherited renal disease, endemic in Cyprus, characterised by microscopic and synpharyngitic macroscopic haematuria, renal failure and C3 glomerulonephritis; affected individuals have an internal duplication within the gene for CFHR5

    Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.
    Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Frémeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC., Free PMC Article

    11/27/2010
    Study identified novel mutations in CFH, CFHR5, CFI, CFB and C3 in American patients with atypical hemolytic uremic syndrome.

    Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
    Maga TK, Nishimura CJ, Weaver AE, Frees KL, Smith RJ, Maga TK, Nishimura CJ, Weaver AE, Frees KL, Smith RJ.

    10/4/2010
    No definitive pathogenic CFHR5 mutations have been found in any of 639 unrelated patients with age-related macular degeneration (AMD), indicating that sequence variations in CFHR5 do not play a major role in determining AMD susceptibility.

    Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration.
    Narendra U, Pauer GJ, Hagstrom SA, Narendra U, Pauer GJ, Hagstrom SA., Free PMC Articles: PMC2667568, PMC2667568

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (9) articles

    Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
    Maga TK, Nishimura CJ, Weaver AE, Frees KL, Smith RJ, Maga TK, Nishimura CJ, Weaver AE, Frees KL, Smith RJ.

    New genetic associations detected in a host response study to hepatitis B vaccine.
    Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M.

    Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.
    Sullivan M, Erlic Z, Hoffmann MM, Arbeiter K, Patzer L, Budde K, Hoppe B, Zeier M, Lhotta K, Rybicki LA, Bock A, Berisha G, Neumann HP.

    Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration.
    Narendra U, Pauer GJ, Hagstrom SA, Narendra U, Pauer GJ, Hagstrom SA.

    Risk of non-Hodgkin lymphoma in association with germline variation in complement genes.
    Cerhan JR, Novak AJ, Fredericksen ZS, Wang AH, Liebow M, Call TG, Dogan A, Witzig TE, Ansell SM, Habermann TM, Kay NE, Slager SL.

    The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration.
    Zhang H, Morrison MA, Dewan A, Adams S, Andreoli M, Huynh N, Regan M, Brown A, Miller JW, Kim IK, Hoh J, Deangelis MM.

    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.
    Hageman GS, Hancox LS, Taiber AJ, Gehrs KM, Anderson DH, Johnson LV, Radeke MJ, Kavanagh D, Richards A, Atkinson J, Meri S, Bergeron J, Zernant J, Merriam J, Gold B, Allikmets R, Dean M, AMD Clinical Study Group..

    Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome.
    Monteferrante G, Brioschi S, Caprioli J, Pianetti G, Bettinaglio P, Bresin E, Remuzzi G, Noris M, Monteferrante G, Brioschi S, Caprioli J, Pianetti G, Bettinaglio P, Bresin E, Remuzzi G, Noris M.

    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).
    Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJ, Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJ.

    03/13/2008
    CFHR5 genetic alterations may play a secondary role in the pathogenesis of haemolytic uraemic syndrome.

    Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome.
    Monteferrante G, Brioschi S, Caprioli J, Pianetti G, Bettinaglio P, Bresin E, Remuzzi G, Noris M, Monteferrante G, Brioschi S, Caprioli J, Pianetti G, Bettinaglio P, Bresin E, Remuzzi G, Noris M.

    01/21/2010
    Identification of specific variants of variants of CFHR5 in membranoproliferative glomerulonephritis type II.

    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).
    Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJ, Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJ., Free PMC Articles: PMC2564553, PMC2564553

    01/21/2010
    FHR-5 shares properties of binding heparin and C-reactive protein and lipoprotein association with one or more of the other FHRs, but is unique among this family of proteins in possessing independent complement-regulatory activity.

    Human factor H-related protein 5 has cofactor activity, inhibits C3 convertase activity, binds heparin and C-reactive protein, and associates with lipoprotein.
    McRae JL, Duthy TG, Griggs KM, Ormsby RJ, Cowan PJ, Cromer BA, McKinstry WJ, Parker MW, Murphy BF, Gordon DL.

    01/21/2010
    Maps to between FHR-2 and the non-complement protein factor XIIIb at 1q32.

    Location and structure of the human FHR-5 gene.
    McRae JL, Murphy BE, Eyre HJ, Sutherland GR, Crawford J, Cowan PJ.

    01/21/2010
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