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The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms.
Sacco M, Lancellotti S, Branchini A, Tardugno M, Testa MF, Lunghi B, Bernardi F, Pinotti M, Giusti B, Castaman G, De Cristofaro R. Sacco M, et al. Among authors: de cristofaro r. J Thromb Haemost. 2022 Aug;20(8):1818-1829. doi: 10.1111/jth.15765. Epub 2022 Jun 9. J Thromb Haemost. 2022. PMID: 35596664 Free PMC article.
Mechanistic studies on ADAMTS13 catalysis.
Di Stasio E, Lancellotti S, Peyvandi F, Palla R, Mannucci PM, De Cristofaro R. Di Stasio E, et al. Among authors: de cristofaro r. Biophys J. 2008 Sep;95(5):2450-61. doi: 10.1529/biophysj.108.131532. Epub 2008 May 23. Biophys J. 2008. PMID: 18502798 Free PMC article.
Congenital prothrombin deficiency.
Lancellotti S, De Cristofaro R. Lancellotti S, et al. Among authors: de cristofaro r. Semin Thromb Hemost. 2009 Jun;35(4):367-81. doi: 10.1055/s-0029-1225759. Epub 2009 Jul 13. Semin Thromb Hemost. 2009. PMID: 19598065 Review.
Formation of methionine sulfoxide by peroxynitrite at position 1606 of von Willebrand factor inhibits its cleavage by ADAMTS-13: A new prothrombotic mechanism in diseases associated with oxidative stress.
Lancellotti S, De Filippis V, Pozzi N, Peyvandi F, Palla R, Rocca B, Rutella S, Pitocco D, Mannucci PM, De Cristofaro R. Lancellotti S, et al. Among authors: de filippis v, de cristofaro r. Free Radic Biol Med. 2010 Feb 1;48(3):446-56. doi: 10.1016/j.freeradbiomed.2009.11.020. Epub 2009 Dec 4. Free Radic Biol Med. 2010. PMID: 19969076
247 results