A novel CFHR1-CFHR5 hybrid leads to a familial dominant C3 glomerulopathy
Tài liệu tham khảo
Skerka, 2013, Complement factor H related proteins (CFHRs), Mol Immunol, 56, 170, 10.1016/j.molimm.2013.06.001
Noris, 2009, Atypical hemolytic-uremic syndrome, N Engl J Med, 361, 1676, 10.1056/NEJMra0902814
George, 2014, Syndromes of thrombotic microangiopathy, N Engl J Med, 371, 656, 10.1056/NEJMra1312353
De Vriese, 2015, Kidney disease caused by dysregulation of the complement alternative pathway: an etiologic approach, J Am Soc Nephrol, 26, 2917, 10.1681/ASN.2015020184
Pickering, 2013, C3 glomerulopathy: consensus report, Kidney Int, 84, 1079, 10.1038/ki.2013.377
Barbour, 2016, Update on C3 glomerulopathy, Nephrol Dial Transplant, 31, 717, 10.1093/ndt/gfu317
Bu, 2015, Soluble c5b-9 as a biomarker for complement activation in atypical hemolytic uremic syndrome, Am J Kidney Dis, 65, 968, 10.1053/j.ajkd.2015.02.326
Venables, 2006, Atypical hemolytic uremic syndrome associated with a hybrid complement gene, PLoS Med, 3, e431, 10.1371/journal.pmed.0030431
Krid, 2012, Renal transplantation under prophylactic eculizumab in atypical hemolytic uremic syndrome with CFH/CFHR1 hybrid protein, Am J Transplant, 12, 1938, 10.1111/j.1600-6143.2012.04051.x
Eyler, 2013, A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome, Pediatr Nephrol, 28, 2221, 10.1007/s00467-013-2560-2
Valoti, 2014, A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation, J Am Soc Nephrol, 26, 209, 10.1681/ASN.2013121339
Malik, 2012, A hybrid CFHR3-1 gene causes familial C3 glomerulopathy, J Am Soc Nephrol, 23, 1155, 10.1681/ASN.2012020166
Chen, 2014, Complement factor H-related hybrid protein deregulates complement in dense deposit disease, J Clin Invest, 124, 145, 10.1172/JCI71866
Francis, 2012, A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome, Blood, 119, 591, 10.1182/blood-2011-03-339903
Xiao, 2016, Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene, Mol Immunol, 77, 89, 10.1016/j.molimm.2016.07.007
Tortajada, 2013, C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation, J Clin Invest, 123, 2434, 10.1172/JCI68280
Sinha, 2014, Prompt plasma exchanges and immunosuppressive treatment improves the outcomes of anti-factor H autoantibody-associated hemolytic uremic syndrome in children, Kidney Int, 85, 1151, 10.1038/ki.2013.373
Chen, 2016, Complement factor H-related 5-hybrid proteins anchor properdin and activate complement at self-surfaces, J Am Soc Nephrol, 1413, 10.1681/ASN.2015020212
Jozsi, 2008, Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency, Blood, 111, 1512, 10.1182/blood-2007-09-109876
Dragon-Durey, 2009, The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical hemolytic uremic syndrome, J Med Genet, 46, 447, 10.1136/jmg.2008.064766
Abarrategui-Garrido, 2009, Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome, Blood, 114, 4261, 10.1182/blood-2009-05-223834
Gale, 2013, C3 glomerulonephritis and CFHR5 nephropathy, Nephrol Dial Transplant, 28, 282, 10.1093/ndt/gfs441
Medjeral-Thomas, 2014, A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry, Kidney Int, 85, 933, 10.1038/ki.2013.348
Sanchez-Corral, 2004, Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H, Mol Immunol, 41, 81, 10.1016/j.molimm.2004.01.003
de Jorge, 2013, Dimerization of complement factor H-related proteins modulates complement activation in vivo, Proc Natl Acad Sci U S A, 110, 4685, 10.1073/pnas.1219260110
Jozsi, 2014, Autoantibodies to complement components in C3 glomerulopathy and atypical hemolytic uremic syndrome, Immunol Lett, 160, 163, 10.1016/j.imlet.2014.01.014
Zuber, 2012, Use of eculizumab for atypical hemolytic uremic syndrome and C3 glomerulopathies, Nat Rev Nephrol, 8, 643, 10.1038/nrneph.2012.214
Le Quintrec, 2015, Eculizumab for treatment of rapidly progressive C3 glomerulopathy, Am J Kidney Dis, 65, 484, 10.1053/j.ajkd.2014.09.025
Servais, 2012, Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies, Kidney Int, 82, 454, 10.1038/ki.2012.63
Kazatchkine, 1979, Human alternative complement pathway: membrane-associated sialic acid regulates the competition between B and beta1 H for cell-bound C3b, J Immunol, 122, 75