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Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.
Megy K, Downes K, Simeoni I, Bury L, Morales J, Mapeta R, Bellissimo DB, Bray PF, Goodeve AC, Gresele P, Lambert M, Reitsma P, Ouwehand WH, Freson K; Subcommittee on Genomics in Thrombosis and Hemostasis. Megy K, et al. Among authors: bray pf. J Thromb Haemost. 2019 Aug;17(8):1253-1260. doi: 10.1111/jth.14479. Epub 2019 Jun 9. J Thromb Haemost. 2019. PMID: 31179617 Free PMC article. No abstract available.
The minor allele of GP6 T13254C is associated with decreased platelet activation and a reduced risk of recurrent cardiovascular events and mortality: results from the SMILE-Platelets project.
Snoep JD, Gaussem P, Eikenboom JC, Emmerich J, Zwaginga JJ, Holmes CE, Vos HL, de Groot PG, Herrington DM, Bray PF, Rosendaal FR, van der Bom JG. Snoep JD, et al. Among authors: bray pf. J Thromb Haemost. 2010 Nov;8(11):2377-84. doi: 10.1111/j.1538-7836.2010.04018.x. J Thromb Haemost. 2010. PMID: 20723028 Free article.
MicroRNAs in platelet production and activation.
Edelstein LC, McKenzie SE, Shaw C, Holinstat MA, Kunapuli SP, Bray PF. Edelstein LC, et al. Among authors: bray pf. J Thromb Haemost. 2013 Jun;11 Suppl 1:340-50. doi: 10.1111/jth.12214. J Thromb Haemost. 2013. PMID: 23809137 Free article. Review.
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E. Simeoni I, et al. Among authors: bray pf. Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15. Blood. 2016. PMID: 27084890 Free PMC article.
SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume.
Zou S, Teixeira AM, Kostadima M, Astle WJ, Radhakrishnan A, Simon LM, Truman L, Fang JS, Hwa J, Zhang PX, van der Harst P, Bray PF, Ouwehand WH, Frontini M, Krause DS. Zou S, et al. Among authors: bray pf. PLoS One. 2017 May 23;12(5):e0178095. doi: 10.1371/journal.pone.0178095. eCollection 2017. PLoS One. 2017. PMID: 28542600 Free PMC article.
The protease-activated receptor 4 Ala120Thr variant alters platelet responsiveness to low-dose thrombin and protease-activated receptor 4 desensitization, and is blocked by non-competitive P2Y12 inhibition.
Whitley MJ, Henke DM, Ghazi A, Nieman M, Stoller M, Simon LM, Chen E, Vesci J, Holinstat M, McKenzie SE, Shaw CA, Edelstein LC, Bray PF. Whitley MJ, et al. Among authors: bray pf. J Thromb Haemost. 2018 Dec;16(12):2501-2514. doi: 10.1111/jth.14318. Epub 2018 Nov 22. J Thromb Haemost. 2018. PMID: 30347494 Free PMC article.
245 results