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A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein S.
Okada H, Kunishima S, Hamaguchi M, Takagi A, Yamamoto K, Takamatsu J, Matsushita T, Saito H, Kojima T, Yamazaki T. Okada H, et al. Among authors: saito h. Thromb Res. 2010 May;125(5):e246-50. doi: 10.1016/j.thromres.2009.11.029. Epub 2009 Dec 21. Thromb Res. 2010. PMID: 20022358
Down-regulation of PROS1 gene expression by 17beta-estradiol via estrogen receptor alpha (ERalpha)-Sp1 interaction recruiting receptor-interacting protein 140 and the corepressor-HDAC3 complex.
Suzuki A, Sanda N, Miyawaki Y, Fujimori Y, Yamada T, Takagi A, Murate T, Saito H, Kojima T. Suzuki A, et al. Among authors: saito h. J Biol Chem. 2010 Apr 30;285(18):13444-53. doi: 10.1074/jbc.M109.062430. Epub 2010 Mar 3. J Biol Chem. 2010. PMID: 20200160 Free PMC article.
Thrombosis from a prothrombin mutation conveying antithrombin resistance.
Miyawaki Y, Suzuki A, Fujita J, Maki A, Okuyama E, Murata M, Takagi A, Murate T, Kunishima S, Sakai M, Okamoto K, Matsushita T, Naoe T, Saito H, Kojima T. Miyawaki Y, et al. Among authors: saito h. N Engl J Med. 2012 Jun 21;366(25):2390-6. doi: 10.1056/NEJMoa1201994. N Engl J Med. 2012. PMID: 22716977 Free article.
8,623 results