Gene Symbol: CFHR1
Description: complement factor H related 1
Alias: CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, H36-1, H36-2, HFL1, HFL2, complement factor H-related protein 1, FHR-1, H factor (complement)-like 1, H factor (complement)-like 2, H-factor-like 1, H36, complement factor H-related 1 pseudogene, h factor-like protein 1
Species: human
Products:     CFHR1

Top Publications

  1. Dragon Durey M, Blanc C, Marliot F, Loirat C, Blouin J, Sautes Fridman C, et al. The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. J Med Genet. 2009;46:447-50 pubmed publisher
    Deletion of the complement factor H related 1 (CFHR1) gene is a consequence of non-allelic homologous recombination and has been reported to be more frequent in atypical haemolytic uraemic syndrome (aHUS) patients than in the normal ..
  2. Diaz Guillen M, Rodriguez De Cordoba S, Heine Suñer D. A radiation hybrid map of complement factor H and factor H-related genes. Immunogenetics. 1999;49:549-52 pubmed
  3. Zipfel P, Edey M, Heinen S, Jozsi M, Richter H, Misselwitz J, et al. Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet. 2007;3:e41 pubmed
    ..independent cohorts of aHUS patients that deletion of two closely related genes, complement factor H-related 1 (CFHR1) and complement factor H-related 3 (CFHR3), increases the risk of aHUS...
  4. Siegel C, Schreiber J, Haupt K, Skerka C, Brade V, Simon M, et al. Deciphering the ligand-binding sites in the Borrelia burgdorferi complement regulator-acquiring surface protein 2 required for interactions with the human immune regulators factor H and factor H-like protein 1. J Biol Chem. 2008;283:34855-63 pubmed publisher
    ..mediated by interactions of the host-derived immune regulators factor H (CFH) and factor H-like protein 1 (CFHL1) with borrelial complement regulator-acquiring surface proteins (BbCRASPs)...
  5. Abarrategui Garrido C, Martinez Barricarte R, Lopez Trascasa M, de Cordoba S, Sanchez Corral P. Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome. Blood. 2009;114:4261-71 pubmed publisher
    ..Notably, deficiency of CFHR1/CFHR3 associates with protection against age-related macular degeneration and with the presence of anti-fH ..
  6. Skerka C, Horstmann R, Zipfel P. Molecular cloning of a human serum protein structurally related to complement factor H. J Biol Chem. 1991;266:12015-20 pubmed
    Two cDNA clones termed H36-1 and H36-2 were isolated from a human liver cDNA library...
  7. Zipfel P, Skerka C. Complement factor H and related proteins: an expanding family of complement-regulatory proteins?. Immunol Today. 1994;15:121-6 pubmed
    ..Here, Peter Zipfel and Christine Skerka review these similarities and suggest a new nomenclature to identify members of the factor-H-related family. ..
  8. Hughes A, Orr N, Esfandiary H, Diaz Torres M, Goodship T, Chakravarthy U. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat Genet. 2006;38:1173-7 pubmed
    ..We found that this haplotype carried a deletion of CFHR1 and CFHR3, and the proteins encoded by these genes were absent in serum of homozygotes...
  9. Hageman G, Hancox L, Taiber A, Gehrs K, Anderson D, Johnson L, et al. 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. Ann Med. 2006;38:592-604 pubmed
    ..CFH and five CFH-related genes (CFHR1-5) lie within the regulators of complement activation (RCA) locus on chromosome 1q32. Aims and Methods...

More Information

Publications129 found, 100 shown here

  1. Spencer K, Hauser M, Olson L, Schmidt S, Scott W, Gallins P, et al. Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet. 2008;17:971-7 pubmed
    ..Recently, deletion of the 'CFH-related' genes CFHR1 and CFHR3 was found to be segregating with a particular CFH haplotype, which reduced the risk of AMD...
  2. Raychaudhuri S, Ripke S, Li M, Neale B, Fagerness J, Reynolds R, et al. Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. Nat Genet. 2010;42:553-5; author reply 555-6 pubmed publisher
  3. Fritsche L, Lauer N, Hartmann A, Stippa S, Keilhauer C, Oppermann M, et al. An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). Hum Mol Genet. 2010;19:4694-704 pubmed publisher
    A frequent deletion of complement factor H (CFH)-related genes CFHR3 and CFHR1 (?CFHR3/CFHR1) is considered to have a protective effect against age-related macular degeneration (AMD), although the underlying mechanism remains elusive...
  4. Kubista K, Tosakulwong N, Wu Y, Ryu E, Roeder J, Hecker L, et al. Copy number variation in the complement factor H-related genes and age-related macular degeneration. Mol Vis. 2011;17:2080-92 pubmed
    ..ligation-dependent probe amplification assay was developed to quantify the number of copies of CFH, CFHR3, CFHR1, CFHR4, CFHR2, and CFHR5 in humans...
  5. Zipfel P, Jokiranta T, Hellwage J, Koistinen V, Meri S. The factor H protein family. Immunopharmacology. 1999;42:53-60 pubmed
    ..Three proteins (FHR-1, FHR-2 and FHR-4) are constituents of lipoproteins, while FHR-3 interacts with heparin. Binding to C3b and C3d has been demonstrated for FHR-3 and FHR-4 and the two proteins display a cofactor related activity. ..
  6. Male D, Ormsby R, Ranganathan S, Giannakis E, Gordon D. Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes. Mol Immunol. 2000;37:41-52 pubmed
  7. Jozsi M, Licht C, Strobel S, Zipfel S, Richter H, Heinen S, et al. Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. Blood. 2008;111:1512-4 pubmed
    ..We previously described the deficiency of factor H-related proteins CFHR1 and CFHR3 as predisposing factor for aHUS...
  8. Schmid Kubista K, Tosakulwong N, Wu Y, Ryu E, Hecker L, Baratz K, et al. Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration. Invest Ophthalmol Vis Sci. 2009;50:5070-9 pubmed publisher assay for determining the number of copies of the genes encoding complement factor H related 3 (CFHR3) and 1 (CFHR1) and determine the contribution of copy number variation (CNV) at CFHR3 and CFHR1 to the development of age-..
  9. Moore I, Strain L, Pappworth I, Kavanagh D, Barlow P, Herbert A, et al. Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Blood. 2010;115:379-87 pubmed publisher
    ..In 10 of the 13 patients there were 0 copies of CFHR1, and in 3 patients there were 2...
  10. Zhao J, Wu H, Khosravi M, Cui H, Qian X, Kelly J, et al. Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. PLoS Genet. 2011;7:e1002079 pubmed publisher
    ..Variants of genes encoding complement regulator factor H (CFH) and five CFH-related proteins (CFHR1-CFHR5) within the chromosome 1q32 locus linked to SLE, have been associated with multiple human diseases and may ..
  11. Martinez Barricarte R, Recalde S, Fernández Robredo P, Millan I, Olavarrieta L, Viñuela A, et al. Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2012;53:1087-94 pubmed publisher
    ..which confers increased risk for AMD, and two protective SNP haplotypes, one of them carrying a deletion of the CFHR1 and CFHR3 genes (?CFHR3-CFHR1)...
  12. Vondrak K, Seeman T. Successful 7-Year Eculizumab Treatment of Plasmapheresis-Resistant Recurrent Atypical Hemolytic-Uremic Syndrome due to Complement Factor H Hybrid Gene: A Case Report. Transplant Proc. 2018;50:967-970 pubmed publisher
    ..Only 3 case reports regard treatment in patients with complement factor H (CFH/CFHR1/CFHR3) hybrid gene...
  13. Hu X, Liu H, Du J, Chen Y, Yang M, Xie Y, et al. The clinical significance of plasma CFHR 1-5 in lupus nephropathy. Immunobiology. 2019;: pubmed publisher
    ..Complement factor H-related proteins (CFHRs), comprising CFHR1 to CFHR5 (CFHR1-5), are members of the wider factor H/CFHR family. Their role in lupus nephritis remains unclear...
  14. Sun Q, Liu L, Roth M, Tian J, He Q, Zhong B, et al. PRMT1 Upregulated by Epithelial Proinflammatory Cytokines Participates in COX2 Expression in Fibroblasts and Chronic Antigen-Induced Pulmonary Inflammation. J Immunol. 2015;195:298-306 pubmed publisher
    ..epithelial cell (A549) medium (ISEM) with or without anti-TGF-β Ab was applied to human fibroblasts from lung (HFL1). The proliferation of HFL1 was determined by MTT...
  15. Alobaidi S, AlDabbagh A, Alamoudi A, Almowarey M, Akl A. Three months interval therapy of Eculizumab in a patient with atypical hemolytic uremic syndrome with hybrid CFHR1/CFH gene. CEN Case Rep. 2019;8:139-143 pubmed publisher
    ..In this case report, we present a 26-year-old female with P-aHUS with hybrid CFHR1/CFH gene. Eculizumab was initiated after 5 weeks of being on hemodialysis and plasmapheresis sessions...
  16. Li X, Xiao T, Yang J, Qin Y, Gao J, Liu H, et al. Parthenolide attenuated bleomycin-induced pulmonary fibrosis via the NF-κB/Snail signaling pathway. Respir Res. 2018;19:111 pubmed publisher
    ..The present study evaluated the therapeutic effect of PTL on PF. Serum-starved primary lung fibroblasts and HFL1 cells were treated with different doses of PTL, and cell viability and the migration rate were measured...
  17. Zhang Q, Tu W, Tian K, Han L, Wang Q, Chen P, et al. Sirtuin 6 inhibits myofibroblast differentiation via inactivating transforming growth factor-β1/Smad2 and nuclear factor-κB signaling pathways in human fetal lung fibroblasts. J Cell Biochem. 2019;120:93-104 pubmed publisher
    ..model of fibroblast-to-myofibroblast differentiation induced by TGF-β1 using human fetal lung fibroblasts (HFL1). We demonstrated that the SIRT6 protein level is upregulated by TGF-β1 in HFL1 cells...
  18. Jiang Q, Ru Y, Yu Y, Li K, Jing Y, Wang J, et al. iTRAQ-based quantitative proteomic analysis reveals potential early diagnostic markers in serum of acute cellular rejection after liver transplantation. Transpl Immunol. 2019;53:7-12 pubmed publisher
    ..After analysis and ELISA validation, the results showed that CFHR1, CFHR5 and CFH could be candidate protein biomarkers for the early diagnosis of ACR after LT.
  19. Brangulis K, Petrovskis I, Kazaks A, Akopjana I, Tars K. Crystal structures of the Erp protein family members ErpP and ErpC from Borrelia burgdorferi reveal the reason for different affinities for complement regulator factor H. Biochim Biophys Acta. 2015;1854:349-55 pubmed publisher
    ..outer membrane proteins that are capable of binding complement regulator factor H (CFH), factor H-like protein 1 (CFHL-1) and factor H-related proteins (CFHR) to avoid complement-mediated killing. B...
  20. Cantsilieris S, White S, Richardson A, Guymer R, Baird P. Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration. PLoS ONE. 2012;7:e35255 pubmed publisher
    ..36 CI-0.95 (0.25-0.52) compared to controls. In addition, a significant association with deletion of CFHR1-4 was identified only in patients who presented with bilateral GA (p = 0.02) (OR = 7.6 CI-0.95 1.38-41.8)...
  21. Wang J, Zheng J, Wang Z, Li H, Deng M. Inferring Gene-Disease Association by an Integrative Analysis of eQTL Genome-Wide Association Study and Protein-Protein Interaction Data. Hum Hered. 2018;83:117-129 pubmed publisher
    ..61 × 10-119. Among the top 20 genes predicted by GeP-HMRF, CFHR1, CGHR3, HTRA1, and CFH are AMD-related in the MalaCards database, and another 9 genes are supported by the ..
  22. Basak R, Wang X, Keane C, Woroniecki R. Atypical presentation of atypical haemolytic uraemic syndrome. BMJ Case Rep. 2018;2018: pubmed publisher
    ..Her genetic testing was abnormal for large CFHR1-CFHR3 homozygous deletion and heterozygous missense variant in exon 2 of DGKE making the diagnosis of atypical HUS...
  23. Hofer J, Janecke A, Zimmerhackl L, Riedl M, Rosales A, Giner T, et al. Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol. 2013;8:407-15 pubmed publisher
    ..pediatric patients with atypical hemolytic uremic syndrome (aHUS) by evaluating both the frequency of deletions in CFHR1 and the presence of complement factor H (CFH) antibodies...
  24. Ã…kesson A, Blom A, Klintman J, Zetterberg E. Indications of underdiagnosis of atypical haemolytic uraemic syndrome in a cohort referred to the Coagulation Unit in Malmo, Sweden, for analysis of ADAMTS13 2007-2012. Nephrology (Carlton). 2017;22:555-561 pubmed publisher
    ..C3 and C4, presence of complement factor H (CFH)-specific antibodies and associated deficiency in complement factor H related protein 1 (CFHR1) were analyzed on frozen samples...
  25. Guo X, Hao Y, Kamilijiang M, Hasimu A, Yuan J, Wu G, et al. Potential predictive plasma biomarkers for cervical cancer by 2D-DIGE proteomics and Ingenuity Pathway Analysis. Tumour Biol. 2015;36:1711-20 pubmed publisher
    ..were screened, mainly including lipid metabolism-related proteins (APOA4, APOA1, APOE), complement (EPPK1, CFHR1), metabolic enzymes (CP, F2, MASP2), glycoprotein (CLU), and immune function-related proteins (IGK@)...
  26. Durey M, Sinha A, Togarsimalemath S, Bagga A. Anti-complement-factor H-associated glomerulopathies. Nat Rev Nephrol. 2016;12:563-78 pubmed publisher
    ..are usually associated with the occurrence of a homozygous deletion in the genes encoding the FH-related proteins FHR1 and FHR3...
  27. Wang J, Yu W, Xu J, Feng L, Liu X. [Study on the CFHR1 level and its genetic polymorphisms in type 2 diabetes mellitus patients]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:438-442 pubmed publisher
    To explore the characteristics in CFHR1 concentration and the frequency of CFHR1 gene polymorphisms of patients with type 2 diabetes mellitus (T2DM) based on the high level of complement factor H (CFH) expression among such patients and ..
  28. Nalluru S, Sridharan M, Go R, Said S, Marshall A. Shiga Toxin as a Potential Trigger of CFHR1 Deletion-Associated Thrombotic Microangiopathy. Am J Med Sci. 2018;356:492-498 pubmed publisher
    ..Here we describe the presentation and management of an individual with CFHR1 deletion-associated TMA also found to have a positive stool Shiga toxin...
  29. Shi K, Wang Z, Liu Y, Gong Y, Fu Y, Li S, et al. CFHR1-Modified Neural Stem Cells Ameliorated Brain Injury in a Mouse Model of Neuromyelitis Optica Spectrum Disorders. J Immunol. 2016;197:3471-3480 pubmed
    ..Therefore, manipulation of the lesion microenvironment contributes to a more effective cell replacement therapeutic strategy for autoimmune diseases of the CNS. ..
  30. Osborne A, Breno M, Borsa N, Bu F, Fremeaux Bacchi V, Gale D, et al. Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. J Immunol. 2018;200:2464-2478 pubmed publisher
    ..genetic variants in 13 mostly complement genes (CFH, CFI, CD46, C3, CFB, CFHR1, CFHR3, CFHR4, CFHR5, CFP, PLG, DGKE, and THBD) from >3500 ..
  31. Sansbury F, Cordell H, Bingham C, Bromilow G, Nicholls A, Powell R, et al. Factors determining penetrance in familial atypical haemolytic uraemic syndrome. J Med Genet. 2014;51:756-64 pubmed publisher
    ..We genotyped susceptibility factors in CFH, CD46 and CFHR1 in affected and unaffected carriers...
  32. Riihilä P, Nissinen L, Ala aho R, Kallajoki M, Grenman R, Meri S, et al. Complement factor H: a biomarker for progression of cutaneous squamous cell carcinoma. J Invest Dermatol. 2014;134:498-506 pubmed publisher
    ..These results provide evidence for a role of CFH and FHL-1 in cSCC progression and identify them as progression markers and potential therapeutic targets in SCCs of skin. ..
  33. Lee J, Park Y, Lee J, Park S, Shin J, Park Y, et al. Atypical hemolytic uremic syndrome: Korean pediatric series. Pediatr Int. 2015;57:431-8 pubmed publisher
    ..Group B had the worst renal outcome. Gene frequencies of homozygous CFHR1 deletion were 73.3%, 2.7% and 1% in group A, group B + C and the control, respectively...
  34. Blanc C, Togarsimalemath S, Chauvet S, Le Quintrec M, Moulin B, Buchler M, et al. Anti-factor H autoantibodies in C3 glomerulopathies and in atypical hemolytic uremic syndrome: one target, two diseases. J Immunol. 2015;194:5129-38 pubmed publisher
    ..No homozygous deletions of the CFHR1 and CFHR3 genes, which are frequently associated with the anti-FH Ab in aHUS patients, were found in the GP ..
  35. Kanaji N, Yokohira M, Nakano Narusawa Y, Watanabe N, Imaida K, Kadowaki N, et al. Hepatocyte growth factor produced in lung fibroblasts enhances non-small cell lung cancer cell survival and tumor progression. Respir Res. 2017;18:118 pubmed publisher
    The influence of lung fibroblasts on lung cancer progression is not fully understood. Lung fibroblasts (HFL1, MRC5, and IMR90 cells) and non-small cell lung cancer (NSCLC)-derived cell lines (A549, EBC1, and HI1017) were cultured under ..
  36. Grenda R, Jarmużek W, Rubik J, Prokurat S, Miklaszewska M, Drozdz D, et al. Favorable four-yr outcome after renal transplantation in a patient with complement factor H antibody and CFHR1/CFHR3 gene mutation-associated HUS. Pediatr Transplant. 2015;19:E130-4 pubmed publisher
    ..A 14-yr-old girl lost her kidneys at the age of 7, due to CFH antibodies and CFH-related protein (CFHR1/CFHR3) homozygous deletion-associated aHUS. CFH, CFI, and MCP gene mutations were excluded...
  37. Zheng L, Yi Y, Liu J, Lin X, Yang K, Lv M, et al. Isolation and characterization of marine Brevibacillus sp. S-1 collected from South China Sea and a novel antitumor peptide produced by the strain. PLoS ONE. 2014;9:e111270 pubmed publisher
    ..Additionally, SBP exhibited low cytotoxicity against HFL1 human normal fibroblast lung cells...
  38. Prevo R, Tiwana G, Maughan T, Buffa F, McKenna W, Higgins G. Depletion of signal recognition particle 72kDa increases radiosensitivity. Cancer Biol Ther. 2017;18:425-432 pubmed publisher
    ..SRP72 depletion also resulted in the radiosensitization of normal lung fibroblast cell lines (HFL1 and MRC-5), demonstrating that the effect is not restricted to tumor cells...
  39. Yao Y, Jiang Y, Han M, Xia Y, He Y, Wang Y, et al. Screening and identification of potential predictive biomarkers for Down's syndrome from second trimester maternal serum. Expert Rev Proteomics. 2015;12:97-107 pubmed publisher
    ..differential levels of dGTPase, β2-glycoprotein I (β2-GPI), complement factor H-related protein 1 precursor (CFHR1) and kininogen 1 isoform 2 were further verified by western blotting tests in another independent group...
  40. Csincsi A, Szabó Z, Bánlaki Z, Uzonyi B, Cserhalmi M, Kárpáti E, et al. FHR-1 Binds to C-Reactive Protein and Enhances Rather than Inhibits Complement Activation. J Immunol. 2017;199:292-303 pubmed publisher
    ..Altogether, these results identify CRP as a ligand for FHR-1 and suggest that FHR-1 enhances, rather than inhibits, complement activation, which may explain the protective effect of FHR-1 deficiency in age-related macular degeneration. ..
  41. Tortajada A, Gutierrez E, Goicoechea de Jorge E, Anter J, Segarra A, Espinosa M, et al. Elevated factor H-related protein 1 and factor H pathogenic variants decrease complement regulation in IgA nephropathy. Kidney Int. 2017;92:953-963 pubmed publisher
    ..complement components and the strong protection from IgAN development conferred by the deletion of the CFHR3 and CFHR1 genes (?CFHR3-CFHR1)...
  42. Arya S, Emri E, Synowsky S, Shirran S, Barzegar Befroei N, Peto T, et al. Quantitative analysis of hydroxyapatite-binding plasma proteins in genotyped individuals with late-stage age-related macular degeneration. Exp Eye Res. 2018;172:21-29 pubmed publisher
    ..05) between the two homozygous groups. The concentrations of six proteins (FHR1, FHR3, APOC4, C4A, C4B and PZP) in the HAP eluted fractions and whole plasma were further analysed using ELISA and ..
  43. Haupt K, Kraiczy P, Wallich R, Brade V, Skerka C, Zipfel P. Binding of human factor H-related protein 1 to serum-resistant Borrelia burgdorferi is mediated by borrelial complement regulator-acquiring surface proteins. J Infect Dis. 2007;196:124-33 pubmed
    ..For the pathogen, this type of surface decoration and specific acquisition of different host plasma proteins allows fine-tuning of the host immune attack. ..
  44. Shen J, He J, Tang X, Han R, Li R, Xu C, et al. [Role of autophagy on cobrotoxin induced cell death of A549]. Zhongguo Fei Ai Za Zhi. 2013;16:339-44 pubmed publisher
    ..the inhibition effect of cobrotoxin on the growth of adenocarcinoma cell A549 and human lung fibroblast cell HFL1, as well as on that of A549 pretreated with 3-MA and SB203580, which are the inhibitor of autophagy and P38-MARK ..
  45. Eyler S, Meyer N, Zhang Y, Xiao X, Nester C, Smith R. A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome. Pediatr Nephrol. 2013;28:2221-5 pubmed publisher
    ..Sequence analysis of CFH and its downstream complement factor H-related genes (CFHR1-5) reveals several macrohomologous blocks caused by large genomic duplications...
  46. Smit McBride Z, Oltjen S, Radu R, Estep J, Nguyen A, Gong Q, et al. Localization of complement factor H gene expression and protein distribution in the mouse outer retina. Mol Vis. 2015;21:110-23 pubmed
    ..Cfh and Cfhr2 transcripts were detected in the mouse RPE/choroid using qPCR, while Cfhr1, Cfhr3, and Cfhrc (Gm4788) were not detected...
  47. Shen Z, Tang W, Guo J, Sun S. miR-483-5p plays a protective role in chronic obstructive pulmonary disease. Int J Mol Med. 2017;40:193-200 pubmed publisher
    ..and fibronectin expression in pulmonary epithelial and lung fibroblast cell lines, BEAS‑2B and HFL1. These findings suggest that miR‑483‑5p may play an important and protective role in patients with ..
  48. Togarsimalemath S, Sethi S, Duggal R, Le Quintrec M, Jha P, Daniel R, et al. A novel CFHR1-CFHR5 hybrid leads to a familial dominant C3 glomerulopathy. Kidney Int. 2017;92:876-887 pubmed publisher
    ..rearrangement generated from a heterozygous deletion spanning 146 Kbp involving multiple CFHR genes leading to a CFHR1-R5 hybrid protein...
  49. Wang B, Jia H, Zhang B, Wang J, Ji C, Zhu X, et al. Pre-incubation with hucMSC-exosomes prevents cisplatin-induced nephrotoxicity by activating autophagy. Stem Cell Res Ther. 2017;8:75 pubmed publisher
    ..In vitro, rat renal tubular epithelial (NRK-52E) cells were pre-incubated with exosomes from hucMSC or HFL1 (human lung fibroblast cells; as control) for 30 min, and 3-methyladenine (an autophagic inhibitor) and rapamycin (..
  50. Jullien P, Laurent B, Claisse G, Masson I, Dinic M, Thibaudin D, et al. Deletion Variants of CFHR1 and CFHR3 Associate with Mesangial Immune Deposits but Not with Progression of IgA Nephropathy. J Am Soc Nephrol. 2018;29:661-669 pubmed publisher
    ..1 years; median follow-up, 132 months). We determined the number of CFHR3 and CFHR1 gene copies by quantitative PCR and collected clinical and biologic data by reviewing the patients' medical ..
  51. Cantsilieris S, Nelson B, HUDDLESTON J, Baker C, Harshman L, Penewit K, et al. Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family. Proc Natl Acad Sci U S A. 2018;115:E4433-E4442 pubmed publisher
    ..of four CFH-related (CFHR) gene paralogs (CFHR2 and CFHR4 ∼25-35 Mya and CFHR1 and CFHR3 ∼7-13 Mya). Remarkably, all evolutionary breakpoints share a common ∼4...
  52. Perez Caballero D, García Laorden I, Cortés G, Wessels M, de Cordoba S, Alberti S. Interaction between complement regulators and Streptococcus pyogenes: binding of C4b-binding protein and factor H/factor H-like protein 1 to M18 strains involves two different cell surface molecules. J Immunol. 2004;173:6899-904 pubmed
    ..pyogenes strain in the human host. These new findings illustrate that S. pyogenes has evolved diverse mechanisms for recruitment of complement regulatory proteins to the bacterial surface to evade immune clearance in the human host. ..
  53. Zhu L, Zhai Y, Wang F, Hou P, LV J, Xu D, et al. Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy. J Am Soc Nephrol. 2015;26:1195-204 pubmed publisher
    ..of IgAN identified susceptibility loci on 1q32 containing the complement regulatory protein-encoding genes CFH and CFHR1-5, with rs6677604 in CFH as the top single-nucleotide polymorphism and CFHR3-1 deletion (CFHR3-1∆) as the ..
  54. Song D, Liu X, Chen Z, Xiao H, Ding J, Sun S, et al. The clinical and laboratory features of Chinese Han anti-factor H autoantibody-associated hemolytic uremic syndrome. Pediatr Nephrol. 2017;32:811-822 pubmed publisher
    ..Of the 22 patients, four (18%) were homozygous for CFHR3-1? and ten were heterozygous for CFHR1 or CFHR3 deletions...
  55. Yang X, Li K, Zhang X, Liu C, Guo B, Wen W, et al. Nanofiber membrane supported lung-on-a-chip microdevice for anti-cancer drug testing. Lab Chip. 2018;18:486-495 pubmed publisher
    ..out cell culture and co-culture of human non-small cell lung cancer cells (A549) and human fetal lung fibroblasts (HFL1), and evaluated gefitinib, an epidermal growth factor receptor (EGFR)-targeted anti-tumor drug...
  56. Watson R, Wearmouth E, McLoughlin A, Jackson A, Ward S, Bertram P, et al. Autoantibodies to CD59, CD55, CD46 or CD35 are not associated with atypical haemolytic uraemic syndrome (aHUS). Mol Immunol. 2015;63:287-96 pubmed publisher
    ..predominately target the C-terminal cell binding recognition domain of FH and are associated with absence of FHR1. Additional autoantibodies have also been identified in association with aHUS, for example autoantibodies to Factor ..
  57. Yang Q, Zhang C, Chan M, Zhao D, Chen J, Wang Q, et al. Biofortification of rice with the essential amino acid lysine: molecular characterization, nutritional evaluation, and field performance. J Exp Bot. 2016;67:4285-96 pubmed publisher
    ..Two pyramid transgenic lines (High Free Lysine; HFL1 and HFL2) with free lysine levels in seeds up to 25-fold that of wild type were obtained via a combination of the above two ..
  58. Hannan J, Laskowski J, Thurman J, Hageman G, Holers V. Mapping the Complement Factor H-Related Protein 1 (CFHR1):C3b/C3d Interactions. PLoS ONE. 2016;11:e0166200 pubmed publisher
    Complement factor H-related protein 1 (CFHR1) is a complement regulator which has been reported to regulate complement by blocking C5 convertase activity and interfering with C5b surface association...
  59. Buhlmann D, Eberhardt H, Medyukhina A, Prodinger W, Figge M, Zipfel P, et al. FHR3 Blocks C3d-Mediated Coactivation of Human B Cells. J Immunol. 2016;197:620-9 pubmed publisher
    ..for the central complement regulator, factor H, combined with a homozygous deficiency, mostly in CFHR3 and CFHR1 Because FHR3 and FHR1 bind to C3d and inactivated C3b, which are ligands for complement receptor type 2 (CR2/CD21),..
  60. Sardell R, Persad P, Pan S, Whitehead P, Adams L, Laux R, et al. Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus. Invest Ophthalmol Vis Sci. 2016;57:6107-6115 pubmed publisher
    ..signal was likely driven by an association at the correlated protective variant, CFH:rs6677604, which tags the CFHR1-3 deletion; individuals with at least one protective allele progressed more slowly...
  61. Jiang H, Fan M, Yang M, Lu C, Zhang M, Liu X, et al. Association among Complement Factor H Autoantibodies, Deletions of CFHR, and the Risk of Atypical Hemolytic Uremic Syndrome. Int J Environ Res Public Health. 2016;13: pubmed
    ..Eight case-control studies with 927 cases and 1182 controls were included in this study. CFHR1 deficiency was significantly associated with an increased risk of aHUS (odds ratio (OR) = 3...
  62. Yang X, Liu T, Chen B, Wang F, Yang Q, Chen X. Grape seed proanthocyanidins prevent irradiation-induced differentiation of human lung fibroblasts by ameliorating mitochondrial dysfunction. Sci Rep. 2017;7:62 pubmed publisher
    ..of grape seed proanthocyanidins (GSPs) on irradiation-induced differentiation of human fetal lung fibroblasts (HFL1)...
  63. Li J, Ge X, Wang X, Liu X, Ma J. Complement System in the Pathogenesis of Benign Lymphoepithelial Lesions of the Lacrimal Gland. PLoS ONE. 2016;11:e0148290 pubmed publisher
    ..C1QC, C3AR1 and CFHR4, were significantly upregulated while 7 other complement system-related genes, C5, CFI, CFHR1|CFH, CFH, CD55, CR1L and CFD were significantly downregulated in the lacrimal glands of BLEL patients...
  64. Rao S, Zhang X, Shi M, Xiao Y, Zhang Y, Wang Y, et al. Suberoylanilide hydroxamic acid attenuates paraquat-induced pulmonary fibrosis by preventing Smad7 from deacetylation in rats. J Thorac Dis. 2016;8:2485-2494 pubmed
    ..Human pulmonary fibroblasts (HFL1) pre-treated with TGF-?1 (5 ng/mL) were treated with SAHA (5 µM)...
  65. Kanaji N, Kita N, Kadowaki N, Bandoh S. Fibronectin and Hepatocyte Growth Factor Produced by Lung Fibroblasts Augment Migration and Invasion of Malignant Pleural Mesothelioma Cells. Anticancer Res. 2017;37:2393-2400 pubmed
    ..Lung fibroblasts (HFL1, MRC5 and IMR90) and MPM cells (H28, H226 and H2052) were cultured under serum-free conditions and the resulting ..
  66. Grosskinsky S, Schott M, Brenner C, Cutler S, Kraiczy P, Zipfel P, et al. Borrelia recurrentis employs a novel multifunctional surface protein with anti-complement, anti-opsonic and invasive potential to escape innate immunity. PLoS ONE. 2009;4:e4858 pubmed publisher
    ..recurrentis to escape innate immunity and to persist in human tissues, including the brain, may help to understand the pathological processes underlying louse-borne relapsing fever. ..
  67. Dragon Durey M, Blanc C, Garnier A, Hofer J, Sethi S, Zimmerhackl L. Anti-factor H autoantibody-associated hemolytic uremic syndrome: review of literature of the autoimmune form of HUS. Semin Thromb Hemost. 2010;36:633-40 pubmed publisher
  68. Mészáros T, Csincsi Ã, Uzonyi B, Hebecker M, Fülöp T, Erdei A, et al. Factor H inhibits complement activation induced by liposomal and micellar drugs and the therapeutic antibody rituximab in vitro. Nanomedicine. 2016;12:1023-1031 pubmed publisher
    ..The FH-related protein CFHR1 had no inhibitory effect...
  69. Estaller C, Koistinen V, Schwaeble W, Dierich M, Weiss E. Cloning of the 1.4-kb mRNA species of human complement factor H reveals a novel member of the short consensus repeat family related to the carboxy terminal of the classical 150-kDa molecule. J Immunol. 1991;146:3190-6 pubmed
    ..Southern blot results support the notion that the 4.3-kb factor H and the 1.4-kb factor H-related mRNA are transcribed from two separate but highly homologous genes. ..
  70. Lee B, Kwak S, Shin J, Lee S, Choi H, Kang H, et al. Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency. Pediatr Res. 2009;66:336-40 pubmed publisher
    ..Recently, a correlation between the development of CFH-Ab and the deficiency of the CFH-related proteins, CFHR1 and CFHR3, was identified...
  71. Yang Q, He X, Wu H, Zhang C, Zou S, Lang T, et al. Subchronic feeding study of high-free-lysine transgenic rice in Sprague-Dawley rats. Food Chem Toxicol. 2017;105:214-222 pubmed publisher
    Lysine is considered to be the first essential amino acid in rice. An elite High-Free-Lysine transgenic line HFL1 was previously produced by metabolic engineering to regulate lysine metabolism...
  72. Yang Q, Suen P, Zhang C, Mak W, Gu M, Liu Q, et al. Improved growth performance, food efficiency, and lysine availability in growing rats fed with lysine-biofortified rice. Sci Rep. 2017;7:1389 pubmed publisher
    ..enhancement of lysine synthesis and suppression of its catabolism, we had produced two transgenic rice lines HFL1 and HFL2 (High Free Lysine) containing high concentration of free lysine...
  73. van Beek A, Pouw R, Brouwer M, van Mierlo G, Geissler J, Ooijevaar de Heer P, et al. Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma. Front Immunol. 2017;8:1328 pubmed publisher
    ..Heterodimers containing FHR-5 were not found. In individuals with homozygous CFHR1 deletions or compound heterozygous CFHR2 missense/nonsense mutations identified in this study, the ..
  74. Tang W, Shen Z, Guo J, Sun S. Screening of long non-coding RNA and TUG1 inhibits proliferation with TGF-? induction in patients with COPD. Int J Chron Obstruct Pulmon Dis. 2016;11:2951-2964 pubmed
    ..Cell Counting Kit-8 assay was used to detect BEAS-2B and HFL1 cell proliferation after TUG-siRNA transfection with TGF-? treatment...
  75. Dezidério Sacconi D, Cabral de Vasconcellos J, Endo Hirata F, MacCord Medina F, Rim P, Barbosa de Melo M. Evaluation of CFH Y402H polymorphism and CFHR3/CFHR1 deletion in age-related macular degeneration patients from Brazil. Ophthalmic Genet. 2016;37:459-461 pubmed
  76. Dedhia P, Govil A, Mogilishetty G, Alloway R, Woodle E, Abu Jawdeh B. Eculizumab and Belatacept for De Novo Atypical Hemolytic Uremic Syndrome Associated With CFHR3-CFHR1 Deletion in a Kidney Transplant Recipient: A Case Report. Transplant Proc. 2017;49:188-192 pubmed publisher novo aHUS in a setting of heterozygous deletion in the complement factor H-related protein (CFHR)3-CFHR1 gene. The aHUS episode was possibly triggered by antibody-mediated rejection or tacrolimus...
  77. Krishnappa V, Gupta M, Elrifai M, Moftakhar B, Ensley M, Vachharajani T, et al. Atypical Hemolytic Uremic Syndrome: A Meta-Analysis of Case Reports Confirms the Prevalence of Genetic Mutations and the Shift of Treatment Regimens. Ther Apher Dial. 2017;: pubmed publisher
    ..Most common mutation was CFH (50%, 69/139) followed by CFHR1 (35%, 30/85), MCP (22.8%, 23/101) and CFI (16.6%, 17/102)...
  78. Strobel S, Abarrategui Garrido C, Fariza Requejo E, Seeberger H, Sanchez Corral P, Jozsi M. Factor H-related protein 1 neutralizes anti-factor H autoantibodies in autoimmune hemolytic uremic syndrome. Kidney Int. 2011;80:397-404 pubmed publisher
    ..the complement regulator factor H, and is often associated with deficiency of the factor H-related proteins CFHR1 and CFHR3...
  79. Gomez S, Handler A. A Drosophila melanogaster hobo-white(+) vector mediates low frequency gene transfer in D. virilis with full interspecific white(+) complementation. Insect Mol Biol. 1997;6:165-71 pubmed
    ..Two transformant lines were recovered with the unmodified helper (HFL1), one containing only the white(+) marked vector, and a sibling line containing the vector as well as an HFL1 ..
  80. Tortajada A, Yébenes H, Abarrategui Garrido C, Anter J, García Fernández J, Martínez Barricarte R, et al. C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation. J Clin Invest. 2013;123:2434-46 pubmed
    ..the identification of a familial C3G-associated genomic mutation in the gene complement factor H–related 1 (CFHR1), which encodes FHR1...
  81. Xie J, Kiryluk K, Li Y, Mladkova N, Zhu L, Hou P, et al. Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese. J Am Soc Nephrol. 2016;27:3187-3194 pubmed
    ..whether the causal sequence variant resides in the CFH gene or the neighboring complement factor H-related 1 (CFHR1) gene and CFHR3, which harbor an 84-kb combined deletion (CFHR3,1Δ) in linkage disequilibrium with rs6677604...
  82. Hughes A, Bridgett S, Meng W, Li M, Curcio C, Stambolian D, et al. Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk. Invest Ophthalmol Vis Sci. 2016;57:2763-9 pubmed publisher
    ..coinheritance of potentially functional variants (including missense variants, novel splice sites, and the CFHR3-CFHR1 deletion) was described for the four common haplotypes...
  83. Hasegawa D, Saito A, Nino N, Uemura S, Takafuji S, Yokoi T, et al. Successful Treatment of Transplantation-associated Atypical Hemolytic Uremic Syndrome With Eculizumab. J Pediatr Hematol Oncol. 2018;40:e41-e44 pubmed publisher
    ..We identified deletions in CFH-related gene 1 (del-CFHR1) by the multiplex ligation-dependent probe amplification testing procedure and CFH autoantibodies...
  84. Losse J, Zipfel P, Jozsi M. Factor H and factor H-related protein 1 bind to human neutrophils via complement receptor 3, mediate attachment to Candida albicans, and enhance neutrophil antimicrobial activity. J Immunol. 2010;184:912-21 pubmed publisher
    ..alpha(M)beta2 integrin) was identified as the major cellular receptor on neutrophils for CFH, CFHL1, and CFHR1, but not for CFHR4 long isoform. CFH and CFHR1 supported cell migration...
  85. Caire J, Recalde S, Velazquez Villoria A, García García L, REITER N, Anter J, et al. Growth of geographic atrophy on fundus autofluorescence and polymorphisms of CFH, CFB, C3, FHR1-3, and ARMS2 in age-related macular degeneration. JAMA Ophthalmol. 2014;132:528-34 pubmed
    ..Samples of DNA were collected to analyze SNPs within AMD-related genes (CFH, CFB, C3, FHR1-3, and ARMS2)...
  86. Bernabéu Herrero M, Jiménez Alcázar M, Anter J, Pinto S, Sánchez Chinchilla D, Garrido S, et al. Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome. Mol Immunol. 2015;67:276-86 pubmed publisher
    ..penetrance and severity is modulated by inheritance of "risk" polymorphisms in the complement genes MCP, CFH and CFHR1. We describe the prevalence of mutations, the frequency of risk polymorphisms and the occurrence of anti-FH ..
  87. Thergaonkar R, Narang A, Gurjar B, Tiwari P, Puraswani M, Saini H, et al. Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations. Clin Exp Nephrol. 2018;22:653-660 pubmed publisher
    ..e., CFH, CFHR1-5, CFI, CFB, C3, CD46, MASP2, DGKE, ADAMTS13, THBD and PLG using next-generation DNA sequencing and for copy ..
  88. Park C, Wright S. Plasma lipopolysaccharide-binding protein is found associated with a particle containing apolipoprotein A-I, phospholipid, and factor H-related proteins. J Biol Chem. 1996;271:18054-60 pubmed
    ..We suggest that FHRPs may be the defining constituent of this novel "lipoprotein" particle. ..
  89. Malik T, Lavin P, Goicoechea de Jorge E, Vernon K, Rose K, Patel M, et al. A hybrid CFHR3-1 gene causes familial C3 glomerulopathy. J Am Soc Nephrol. 2012;23:1155-60 pubmed publisher
    ..Complement factor H (CFH), which inhibits complement activation, and five CFH-related proteins (CFHR1-5) compose a family of structurally related molecules...
  90. Timmann C, Leippe M, Horstmann R. Two major serum components antigenically related to complement factor H are different glycosylation forms of a single protein with no factor H-like complement regulatory functions. J Immunol. 1991;146:1265-70 pubmed
  91. Sullivan M, Erlic Z, Hoffmann M, Arbeiter K, Patzer L, Budde K, et al. Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. Ann Hum Genet. 2010;74:17-26 pubmed publisher
    ..Mutation analyses were performed in the genes CFH, CD46 and CFI and in the six potential susceptibility genes, FHR1 to FHR5 and C4BP...