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

    Gene ID: 81494, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Causal association between complement system FHR-5, CTRP9, and breast carcinoma in situ: a Mendelian randomization study.

    Causal association between complement system FHR-5, CTRP9, and breast carcinoma in situ: a Mendelian randomization study.
    Peng YL, Li H, Sun P, Zhang HD, Li D, Wang HB, Zhang L.

    04/8/2024
    The complement factor H-related protein-5 (CFHR5) exacerbates pathological bone formation in ankylosing spondylitis.

    The complement factor H-related protein-5 (CFHR5) exacerbates pathological bone formation in ankylosing spondylitis.
    Lee JH, Lee SH, Jeon C, Han J, Kim SH, Youn J, Park YS, Kim TJ, Kim JS, Jo S, Kim TH, Son CN.

    03/28/2024
    Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.

    Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.
    Iglesias MJ, Sanchez-Rivera L, Ibrahim-Kosta M, Naudin C, Munsch G, Goumidi L, Farm M, Smith PM, Thibord F, Kral-Pointner JB, Hong MG, Suchon P, Germain M, Schrottmaier W, Dusart P, Boland A, Kotol D, Edfors F, Koprulu M, Pietzner M, Langenberg C, Damrauer SM, Johnson AD, Klarin DM, Smith NL, Smadja DM, Holmström M, Magnusson M, Silveira A, Uhlén M, Renné T, Martinez-Perez A, Emmerich J, Deleuze JF, Antovic J, Soria Fernandez JM, Assinger A, Schwenk JM, Souto Andres JC, Morange PE, Butler LM, Trégouët DA, Odeberg J., Free PMC Article

    06/15/2023
    Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation.

    Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation.
    Papp A, Papp K, Uzonyi B, Cserhalmi M, Csincsi ÁI, Szabó Z, Bánlaki Z, Ermert D, Prohászka Z, Erdei A, Ferreira VP, Blom AM, Józsi M., Free PMC Article

    04/23/2022
    Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci.

    Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci.
    Pappas CM, Zouache MA, Matthews S, Faust CD, Hageman JL, Williams BL, Richards BT, Hageman GS., Free PMC Article

    02/5/2022
    FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.

    FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.
    Garam N, Cserhalmi M, Prohászka Z, Szilágyi Á, Veszeli N, Szabó E, Uzonyi B, Iliás A, Aigner C, Schmidt A, Gaggl M, Sunder-Plassmann G, Bajcsi D, Brunner J, Dumfarth A, Cejka D, Flaschberger S, Flögelova H, Haris Á, Hartmann Á, Heilos A, Mueller T, Rusai K, Arbeiter K, Hofer J, Jakab D, Sinkó M, Szigeti E, Bereczki C, Janko V, Kelen K, Reusz GS, Szabó AJ, Klenk N, Kóbor K, Kojc N, Knechtelsdorfer M, Laganovic M, Lungu AC, Meglic A, Rus R, Kersnik Levart T, Macioniene E, Miglinas M, Pawłowska A, Stompór T, Podracka L, Rudnicki M, Mayer G, Rysava R, Reiterova J, Saraga M, Seeman T, Zieg J, Sládková E, Stajic N, Szabó T, Capitanescu A, Stancu S, Tisljar M, Galesic K, Tislér A, Vainumäe I, Windpessl M, Zaoral T, Zlatanova G, Józsi M, Csuka D., Free PMC Article

    12/25/2021
    Gain-of-function factor H-related 5 protein impairs glomerular complement regulation resulting in kidney damage.

    Gain-of-function factor H-related 5 protein impairs glomerular complement regulation resulting in kidney damage.
    Malik TH, Gitterman DP, Lavin DP, Lomax-Browne HJ, Hiemeyer EC, Moran LB, Boroviak K, Cook HT, Gilmore AC, Mandwie M, Ahmad A, Alexander IE, Logan GJ, Marchbank KJ, Bradley A, Pickering MC., Free PMC Article

    10/30/2021
    Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.

    Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
    Lorés-Motta L, van Beek AE, Willems E, Zandstra J, van Mierlo G, Einhaus A, Mary JL, Stucki C, Bakker B, Hoyng CB, Fauser S, Clark SJ, de Jonge MI, Nogoceke E, Koertvely E, Jongerius I, Kuijpers TW, den Hollander AI., Free PMC Article

    09/4/2021
    The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy.

    The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy.
    Kadkhodayi-Kholghi N, Bhatt JS, Gor J, McDermott LC, Gale DP, Perkins SJ., Free PMC Article

    03/13/2021
    Higher circulating FHR-5 levels in IgA nephropathy patients were associated with a lower estimated glomerular filtration rate, hypertension, and severe Oxford-T and Oxford-C scores. High FHR-5 levels were independently and significantly associated with a risk of developing either a 30% decline in the estimated glomerular filtration rate or end-stage renal disease.

    Circulating complement factor H-related protein 5 levels contribute to development and progression of IgA nephropathy.
    Zhu L, Guo WY, Shi SF, Liu LJ, Lv JC, Medjeral-Thomas NR, Lomax-Browne HJ, Pickering MC, Zhang H.

    08/17/2019
    Novel genetic rearrangement generated from a heterozygous deletion spanning 146 Kbp involving multiple CFHR genes leading to a CFHR1-R5 hybrid protein. This deletion was found in four family members presenting with a familial dominant glomerulopathy.

    A novel CFHR1-CFHR5 hybrid leads to a familial dominant C3 glomerulopathy.
    Togarsimalemath SK, Sethi SK, Duggal R, Le Quintrec M, Jha P, Daniel R, Gonnet F, Bansal S, Roumenina LT, Fremeaux-Bacchi V, Kher V, Dragon-Durey MA.

    05/26/2018
    Higher serum FHR-5 levels were associated with a lack of response to immunosuppression, the presence of endocapillary hypercellularity, and histology scores of IgA nephropathy severity.

    Circulating complement factor H-related proteins 1 and 5 correlate with disease activity in IgA nephropathy.
    Medjeral-Thomas NR, Lomax-Browne HJ, Beckwith H, Willicombe M, McLean AG, Brookes P, Pusey CD, Falchi M, Cook HT, Pickering MC., Free PMC Article

    05/26/2018
    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., Free PMC Article

    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.

    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., Free PMC Article

    01/21/2010
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