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A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.
Ghevaert C, Salsmann A, Watkins NA, Schaffner-Reckinger E, Rankin A, Garner SF, Stephens J, Smith GA, Debili N, Vainchenker W, de Groot PG, Huntington JA, Laffan M, Kieffer N, Ouwehand WH. Ghevaert C, et al. Blood. 2008 Apr 1;111(7):3407-14. doi: 10.1182/blood-2007-09-112615. Epub 2007 Dec 7. Blood. 2008. PMID: 18065693 Free article.
JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V617F-positive essential thrombocythemia.
Li J, Spensberger D, Ahn JS, Anand S, Beer PA, Ghevaert C, Chen E, Forrai A, Scott LM, Ferreira R, Campbell PJ, Watson SP, Liu P, Erber WN, Huntly BJ, Ottersbach K, Green AR. Li J, et al. Among authors: ghevaert c. Blood. 2010 Sep 2;116(9):1528-38. doi: 10.1182/blood-2009-12-259747. Epub 2010 May 20. Blood. 2010. PMID: 20489053 Free PMC article.
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: ghevaert c. 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.
CRLF3 plays a key role in the final stage of platelet genesis and is a potential therapeutic target for thrombocythemia.
Bennett C, Lawrence M, Guerrero JA, Stritt S, Waller AK, Yan Y, Mifsud RW, Ballester-Beltrán J, Baig A, Mueller A, Mayer L, Warland J, Penkett CJ, Akbari P, Moreau T, Evans AL, Mookerjee S, Hoffman GJ, Saeb-Parsy K, Adams DJ, Couzens AL, Bender M, Erber WN, Nieswandt B, Read RJ, Ghevaert C. Bennett C, et al. Among authors: ghevaert c. Blood. 2022 Apr 7;139(14):2227-2239. doi: 10.1182/blood.2021013113. Blood. 2022. PMID: 35051265 Free PMC article.
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