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A mutation in the kringle domain of human factor XII that causes autoinflammation, disturbs zymogen quiescence, and accelerates activation.
Hofman ZLM, Clark CC, Sanrattana W, Nosairi A, Parr NMJ, Živkovic M, Krause K, Mahnke NA, Scheffel J, Hack CE, Maurer M, de Maat S, Maas C. Hofman ZLM, et al. Among authors: sanrattana w. J Biol Chem. 2020 Jan 10;295(2):363-374. doi: 10.1074/jbc.RA119.009788. Epub 2019 Nov 26. J Biol Chem. 2020. PMID: 31771982 Free PMC article.
Factor XII truncation accelerates activation in solution.
de Maat S, Clark CC, Boertien M, Parr N, Sanrattana W, Hofman ZLM, Maas C. de Maat S, et al. Among authors: sanrattana w. J Thromb Haemost. 2019 Jan;17(1):183-194. doi: 10.1111/jth.14325. Epub 2018 Dec 10. J Thromb Haemost. 2019. PMID: 30394658 Free PMC article.
SERPINs-From Trap to Treatment.
Sanrattana W, Maas C, de Maat S. Sanrattana W, et al. Front Med (Lausanne). 2019 Feb 12;6:25. doi: 10.3389/fmed.2019.00025. eCollection 2019. Front Med (Lausanne). 2019. PMID: 30809526 Free PMC article. Review.