Display options
Cite
Piras R, Iatropoulos P, Bresin E, et al. Molecular Studies and an . Front Med (Lausanne). 2020;7:579418doi: 10.3389/fmed.2020.579418.
Piras, R., Iatropoulos, P., Bresin, E., Todeschini, M., Gastoldi, S., Valoti, E., Alberti, M., Mele, C., Galbusera, M., Cuccarolo, P., Benigni, A., Remuzzi, G., & Noris, M. (2020). Molecular Studies and an . Frontiers in medicine, 7579418. https://doi.org/10.3389/fmed.2020.579418
Piras, Rossella, et al. "Molecular Studies and an ." Frontiers in medicine vol. 7 (2020): 579418. doi: https://doi.org/10.3389/fmed.2020.579418
Piras R, Iatropoulos P, Bresin E, Todeschini M, Gastoldi S, Valoti E, Alberti M, Mele C, Galbusera M, Cuccarolo P, Benigni A, Remuzzi G, Noris M. Molecular Studies and an . Front Med (Lausanne). 2020 Nov 03;7:579418. doi: 10.3389/fmed.2020.579418. eCollection 2020. PMID: 33224962; PMCID: PMC7670076.
Copy Download .nbib Format: NLM
Share it on

Front Med (Lausanne). 2020 Nov 03;7:579418. doi: 10.3389/fmed.2020.579418. eCollection 2020.

Molecular Studies and an .

Frontiers in medicine

Rossella Piras, Paraskevas Iatropoulos, Elena Bresin, Marta Todeschini, Sara Gastoldi, Elisabetta Valoti, Marta Alberti, Caterina Mele, Miriam Galbusera, Paola Cuccarolo, Ariela Benigni, Giuseppe Remuzzi, Marina Noris

Affiliations

  1. Clinical Research Center for Rare Diseases 'Aldo e Cele Daccò,' Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Bergamo, Italy.

PMID: 33224962 PMCID: PMC7670076 DOI: 10.3389/fmed.2020.579418

Abstract

Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease characterized by microangiopathic hemolysis, thrombocytopenia, and renal impairment and is associated with dysregulation of the alternative complement pathway on the microvascular endothelium. Outcomes have improved greatly with pharmacologic complement C5 blockade. Abnormalities in complement genes (

Copyright © 2020 Piras, Iatropoulos, Bresin, Todeschini, Gastoldi, Valoti, Alberti, Mele, Galbusera, Cuccarolo, Benigni, Remuzzi and Noris.

Keywords: CD46 expression; atypical hemolytic uremic syndrome; complement; ex-vivo assay; incomplete penetrance; membrane cofactor protein; rare variants; splicing

References

  1. J Med Genet. 2005 Nov;42(11):852-6 - PubMed
  2. Kidney Int. 2018 Aug;94(2):408-418 - PubMed
  3. Orphanet J Rare Dis. 2014 Nov 15;9:161 - PubMed
  4. Mol Immunol. 2012 Jan;49(4):640-8 - PubMed
  5. Genet Med. 2015 May;17(5):405-24 - PubMed
  6. Kidney Int. 1998 Apr;53(4):836-44 - PubMed
  7. Clin Exp Immunol. 2008 Jan;151(1):1-13 - PubMed
  8. Hum Mol Genet. 2003 Dec 15;12(24):3385-95 - PubMed
  9. J Am Soc Nephrol. 2013 Feb;24(3):475-86 - PubMed
  10. J Biol Chem. 2000 Dec 1;275(48):37692-701 - PubMed
  11. Semin Thromb Hemost. 2014 Jun;40(4):422-30 - PubMed
  12. J Immunol. 2018 Apr 1;200(7):2464-2478 - PubMed
  13. Blood. 2020 Sep 24;136(13):1558-1561 - PubMed
  14. Hum Mol Genet. 2005 Mar 1;14(5):703-12 - PubMed
  15. Hum Genomics. 2015 Jun 10;9:7 - PubMed
  16. Blood. 2008 Jan 15;111(2):624-32 - PubMed
  17. Mol Immunol. 2007 Sep;44(16):3889-900 - PubMed
  18. Blood. 2014 Sep 11;124(11):1715-26 - PubMed
  19. Blood. 2001 Sep 15;98(6):1828-35 - PubMed
  20. Clin Dev Immunol. 2012;2012:370426 - PubMed
  21. Nat Genet. 2013 May;45(5):531-6 - PubMed
  22. Clin J Am Soc Nephrol. 2015 Jun 5;10(6):1011-9 - PubMed
  23. Kidney Int. 2017 Mar;91(3):539-551 - PubMed
  24. J Am Soc Nephrol. 2006 Jul;17(7):2017-25 - PubMed
  25. Lancet. 2017 Aug 12;390(10095):681-696 - PubMed
  26. Am J Kidney Dis. 2008 Aug;52(2):e5-9 - PubMed
  27. J Am Soc Nephrol. 2014 Jan;25(1):55-64 - PubMed
  28. Front Immunol. 2019 May 01;10:853 - PubMed
  29. J Am Soc Nephrol. 2005 Apr;16(4):1035-50 - PubMed
  30. Am J Kidney Dis. 2019 Jul;74(1):56-72 - PubMed
  31. J Exp Med. 2007 Jun 11;204(6):1249-56 - PubMed
  32. Nat Rev Nephrol. 2012 Nov;8(11):622-33 - PubMed
  33. J Am Soc Nephrol. 1998 Jun;9(6):1126-33 - PubMed
  34. J Virol. 1997 Aug;71(8):6144-54 - PubMed
  35. Mol Immunol. 2007 Jan;44(1-3):111-22 - PubMed
  36. Clin J Am Soc Nephrol. 2010 Oct;5(10):1844-59 - PubMed
  37. Blood. 2009 Nov 5;114(19):4261-71 - PubMed
  38. Lancet. 2003 Nov 8;362(9395):1542-7 - PubMed
  39. N Engl J Med. 2014 Aug 14;371(7):654-66 - PubMed
  40. Blood. 2006 Aug 15;108(4):1267-79 - PubMed
  41. Pediatr Nephrol. 2015 Dec;30(12):2215-20 - PubMed
  42. Kidney Int Rep. 2016 Aug 31;2(1):66-75 - PubMed
  43. Kidney Int. 1998 Nov;54(5):1419-28 - PubMed
  44. Clin Epidemiol. 2020 Mar 12;12:295-305 - PubMed
  45. Hum Mutat. 2010 Jun;31(6):E1445-60 - PubMed
  46. N Engl J Med. 2009 Oct 22;361(17):1676-87 - PubMed
  47. Kidney Int. 2016 Jul;90(1):123-34 - PubMed

Publication Types