| Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication. | Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication.
Tasaki Y, Tsujimoto H, Yokoyama T, Sugimoto N, Kitajima S, Fujii H, Hidaka Y, Kato N, Maruyama S, Inoue N, Wada T., Free PMC Article | 03/27/2024 |
| The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases. | The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases.
Hamza A, El-Sissy C, Yousfi N, Martins PV, Rafat C, Masliah-Planchon J, Frémeaux-Bacchi V, Mesnard L., Free PMC Article | 07/23/2023 |
| CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome. | CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.
Piras R, Valoti E, Alberti M, Bresin E, Mele C, Breno M, Liguori L, Donadelli R, Rigoldi M, Benigni A, Remuzzi G, Noris M., Free PMC Article | 02/17/2023 |
| Anti-factor H antibody and its role in atypical hemolytic uremic syndrome. | Anti-factor H antibody and its role in atypical hemolytic uremic syndrome.
Raina R, Mangat G, Hong G, Shah R, Nair N, Abboud B, Bagga S, Sethi SK., Free PMC Article | 10/1/2022 |
| Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations. | Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.
Kumar V, Pouw RB, Autio MI, Sagmeister MG, Phua ZY, Borghini L, Wright VJ, Hoggart C, Pan B, Tan AKY, Binder A, Brouwer MC, Pinnock E, De Groot R, Hazelzet J, Emonts M, Van Der Flier M, Reiter K, Nöthen MM, Hoffmann P, EUCLIDS consortium, Schlapbach LJ, Bellos E, Anderson S, Secka F, Martinón-Torres F, Salas A, Fink C, Carrol ED, Pollard AJ, Coin LJ, Zenz W, Wouters D, Ang LT, Hibberd ML, Levin M, Kuijpers TW, Davila S., Free PMC Article | 09/17/2022 |
| The miR-590-3p/CFHR3/STAT3 signaling pathway promotes cell proliferation and metastasis in hepatocellular carcinoma. | The miR-590-3p/CFHR3/STAT3 signaling pathway promotes cell proliferation and metastasis in hepatocellular carcinoma.
Wan Z, Li X, Luo X, Wang B, Zhou X, Chen A., Free PMC Article | 08/13/2022 |
| High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome. | High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.
Kandari S, Chakurkar V, Gaikwad S, Agarwal M, Phadke N, Lobo V. | 03/12/2022 |
| Complement Factor H-Related 3 Enhanced Inflammation and Complement Activation in Human RPE Cells. | Complement Factor H-Related 3 Enhanced Inflammation and Complement Activation in Human RPE Cells.
Schäfer N, Rasras A, Ormenisan DM, Amslinger S, Enzmann V, Jägle H, Pauly D., Free PMC Article | 02/19/2022 |
| CFHR3 is a potential novel biomarker for hepatocellular carcinoma. | CFHR3 is a potential novel biomarker for hepatocellular carcinoma.
Liu J, Li W, Zhao H. | 07/10/2021 |
| Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection. | Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection.
Ribeiro GE, Leon LE, Perez R, Cuiza A, Vial PA, Ferres M, Mertz GJ, Vial C., Free PMC Article | 09/26/2020 |
| These findings provide a mechanistic explanation as to why the deletion of CFHR3 and CFHR1 is protective in AMD and highlight the importance of genetic variants within the CFH/CFHR3/CFHR1 locus in the recognition of altered-self in tissue homeostasis. | A genome-wide association study identifies key modulators of complement factor H binding to malondialdehyde-epitopes.
Alic L, Papac-Milicevic N, Czamara D, Rudnick RB, Ozsvar-Kozma M, Hartmann A, Gurbisz M, Hoermann G, Haslinger-Hutter S, Zipfel PF, Skerka C, Binder EB, Binder CJ., Free PMC Article | 08/1/2020 |
| Overexpression of CFHR3 suppressed proliferation and promoted apoptosis of HCC cells by inhibiting the PI3K/Akt/mTOR signaling pathway. | Complement factor H‑related 3 overexpression affects hepatocellular carcinoma proliferation and apoptosis.
Liu H, Zhang L, Wang P., Free PMC Article | 02/8/2020 |
| In conclusion, the CFHR3,1D genotype did not associate with progression toward CKD stages 3 and 5 in our white population of patients with IgAN, although it did associate with a reduced level of glomerular immune deposits. | Deletion Variants of CFHR1 and CFHR3 Associate with Mesangial Immune Deposits but Not with Progression of IgA Nephropathy.
Jullien P, Laurent B, Claisse G, Masson I, Dinic M, Thibaudin D, Berthoux F, Alamartine E, Mariat C, Maillard N., Free PMC Article | 07/13/2019 |
| These data suggest that increased plasma levels of FHR-3, altering the balance between factor H (FH) and FHR-3, likely impact the FH regulatory functions and contribute to the development of atypical hemolytic-uremic syndrome . | High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3*B.
Pouw RB, Gómez Delgado I, López Lera A, Rodríguez de Córdoba S, Wouters D, Kuijpers TW, Sánchez-Corral P., Free PMC Article | 06/15/2019 |
| We conclude that the relationship between complement-regulatory proteins CFHR1 and CFHR3 and response to anti-CD20 mAb therapy varies based on the specific anti-CD20 mAb used. | Complement-Regulatory Proteins CFHR1 and CFHR3 and Patient Response to Anti-CD20 Monoclonal Antibody Therapy.
Rogers LM, Mott SL, Smith BJ, Link BK, Sahin D, Weiner GJ., Free PMC Article | 02/17/2018 |
| To our knowledge, this is the first evaluation of the involvement of the CFHR3/CFHR1 deletion and age-related macular degeneration in CFH Y402H polymorphism Brazilian patients. | Evaluation of CFH Y402H polymorphism and CFHR3/CFHR1 deletion in age-related macular degeneration patients from Brazil.
Dezidério Sacconi DP, Cabral de Vasconcellos JP, Endo Hirata F, MacCord Medina F, Rim PH, Barbosa de Melo M. | 11/18/2017 |
| These data provide evidence that FHR3, which is absent in patients with the autoimmune form of hemolytic uremic syndrome, is involved in B cell regulation | FHR3 Blocks C3d-Mediated Coactivation of Human B Cells.
Buhlmann D, Eberhardt HU, Medyukhina A, Prodinger WM, Figge MT, Zipfel PF, Skerka C. | 08/12/2017 |
| Exploratory analyses of clinical and histopathologic parameters using the Oxford classification criteria revealed a suggestive association of CFHR3,1Delta with reduced tubulointerstitial injury. These data indicate that dysregulated activity of the alternative complement pathway contributes to IgAN pathogenesis in both Asians and Europeans and implicate CFHR3,1Delta as the functional allele at this locus | Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese.
Xie J, Kiryluk K, Li Y, Mladkova N, Zhu L, Hou P, Ren H, Wang W, Zhang H, Chen N, Gharavi AG., Free PMC Article | 05/27/2017 |
| We describe a novel CFH/CFHR3 hybrid gene secondary to a de novo 6.3-kb deletion that arose through microhomology-mediated end joining rather than nonallelic homologous recombination. We confirmed a transcript from this hybrid gene and showed a secreted protein product that lacks the recognition domain of factor H and exhibits impaired cell surface complement regulation | A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome.
Challis RC, Araujo GS, Wong EK, Anderson HE, Awan A, Dorman AM, Waldron M, Wilson V, Brocklebank V, Strain L, Morgan BP, Harris CL, Marchbank KJ, Goodship TH, Kavanagh D., 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.[CFHR3] | 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 |
| These results suggest that the combination of quantitative and qualitative variations in the complement proteins encoded by CFH, CFHR3 and CFHR1 genes is key for the association of these haplotypes with disease. | Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome.
Bernabéu-Herrero ME, Jiménez-Alcázar M, Anter J, Pinto S, Sánchez Chinchilla D, Garrido S, López-Trascasa M, Rodríguez de Córdoba S, Sánchez-Corral P. | 12/19/2015 |
| Genetic variants in CFH, CFHR3, and CFHR1 affect complement activation and thereby predispose patients to develop IgA nephropathy. | Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy.
Zhu L, Zhai YL, Wang FM, Hou P, Lv JC, Xu DM, Shi SF, Liu LJ, Yu F, Zhao MH, Novak J, Gharavi AG, Zhang H., Free PMC Article | 07/25/2015 |
| Prompt use of immunosuppressive agents and plasma exchanges are useful for improving outcomes in pediatric patients with anti-complement factor H-associated HUS. | Prompt plasma exchanges and immunosuppressive treatment improves the outcomes of anti-factor H autoantibody-associated hemolytic uremic syndrome in children.
Sinha A, Gulati A, Saini S, Blanc C, Gupta A, Gurjar BS, Saini H, Kotresh ST, Ali U, Bhatia D, Ohri A, Kumar M, Agarwal I, Gulati S, Anand K, Vijayakumar M, Sinha R, Sethi S, Salmona M, George A, Bal V, Singh G, Dinda AK, Hari P, Rath S, Dragon-Durey MA, Bagga A, Indian HUS Registry. | 02/14/2015 |
| Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479. | Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
Chaudhary P, Hepgur M, Sarkissian S, Smith RJ, Weitz IC., Free PMC Article | 10/18/2014 |