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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.
Overexpression of the partially activated alpha(IIb)beta3D723H integrin salt bridge mutant downregulates RhoA activity and induces microtubule-dependent proplatelet-like extensions in Chinese hamster ovary cells.
Schaffner-Reckinger E, Salsmann A, Debili N, Bellis J, De Mey J, Vainchenker W, Ouwehand WH, Kieffer N. Schaffner-Reckinger E, et al. J Thromb Haemost. 2009 Jul;7(7):1207-17. doi: 10.1111/j.1538-7836.2009.03494.x. Epub 2009 May 22. J Thromb Haemost. 2009. PMID: 19486276 Free article.
RGD, the Rho'd to cell spreading.
Salsmann A, Schaffner-Reckinger E, Kieffer N. Salsmann A, et al. Eur J Cell Biol. 2006 Apr;85(3-4):249-54. doi: 10.1016/j.ejcb.2005.08.003. Epub 2005 Sep 13. Eur J Cell Biol. 2006. PMID: 16546569 Review.
24 results