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Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.
Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J. Kahr WH, et al. Nat Genet. 2011 Jul 17;43(8):738-40. doi: 10.1038/ng.884. Nat Genet. 2011. PMID: 21765413 Free PMC article.
The cell motility modulator Slit2 is a potent inhibitor of platelet function.
Patel S, Huang YW, Reheman A, Pluthero FG, Chaturvedi S, Mukovozov IM, Tole S, Liu GY, Li L, Durocher Y, Ni H, Kahr WH, Robinson LA. Patel S, et al. Circulation. 2012 Sep 11;126(11):1385-95. doi: 10.1161/CIRCULATIONAHA.112.105452. Epub 2012 Aug 3. Circulation. 2012. PMID: 22865890
Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice.
Kahr WH, Lo RW, Li L, Pluthero FG, Christensen H, Ni R, Vaezzadeh N, Hawkins CE, Weyrich AS, Di Paola J, Landolt-Marticorena C, Gross PL. Kahr WH, et al. Blood. 2013 Nov 7;122(19):3349-58. doi: 10.1182/blood-2013-04-499491. Epub 2013 Jul 16. Blood. 2013. PMID: 23861251 Free PMC article.
107 results