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SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.
Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidzé M, Guiú IS, Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV; UK Genotyping and Phenotyping of Platelets study group. Fletcher SJ, et al. J Clin Invest. 2015 Sep;125(9):3600-5. doi: 10.1172/JCI80347. Epub 2015 Aug 17. J Clin Invest. 2015. PMID: 26280575 Free PMC article. Clinical Trial.
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Johnson B, Lowe GC, Futterer J, Lordkipanidzé M, MacDonald D, Simpson MA, Sanchez-Guiú I, Drake S, Bem D, Leo V, Fletcher SJ, Dawood B, Rivera J, Allsup D, Biss T, Bolton-Maggs PH, Collins P, Curry N, Grimley C, James B, Makris M, Motwani J, Pavord S, Talks K, Thachil J, Wilde J, Williams M, Harrison P, Gissen P, Mundell S, Mumford A, Daly ME, Watson SP, Morgan NV; UK GAPP Study Group. Johnson B, et al. Among authors: fletcher sj. Haematologica. 2016 Oct;101(10):1170-1179. doi: 10.3324/haematol.2016.146316. Epub 2016 Jun 16. Haematologica. 2016. PMID: 27479822 Free PMC article.
Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.
Lozano ML, Cook A, Bastida JM, Paul DS, Iruin G, Cid AR, Adan-Pedroso R, Ramón González-Porras J, Hernández-Rivas JM, Fletcher SJ, Johnson B, Morgan N, Ferrer-Marin F, Vicente V, Sondek J, Watson SP, Bergmeier W, Rivera J. Lozano ML, et al. Among authors: fletcher sj. Blood. 2016 Sep 1;128(9):1282-9. doi: 10.1182/blood-2015-11-683102. Epub 2016 May 27. Blood. 2016. PMID: 27235135 Free PMC article. Clinical Trial.
88 results