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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. Among authors: li l. 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. Among authors: li l. 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. Among authors: li l. 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.
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.
Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J. Noetzli L, et al. Among authors: li l. Nat Genet. 2015 May;47(5):535-538. doi: 10.1038/ng.3253. Epub 2015 Mar 25. Nat Genet. 2015. PMID: 25807284 Free PMC article.
Intracellular Trafficking, Localization, and Mobilization of Platelet-Borne Thiol Isomerases.
Crescente M, Pluthero FG, Li L, Lo RW, Walsh TG, Schenk MP, Holbrook LM, Louriero S, Ali MS, Vaiyapuri S, Falet H, Jones IM, Poole AW, Kahr WH, Gibbins JM. Crescente M, et al. Among authors: li l. Arterioscler Thromb Vasc Biol. 2016 Jun;36(6):1164-73. doi: 10.1161/ATVBAHA.116.307461. Epub 2016 Apr 14. Arterioscler Thromb Vasc Biol. 2016. PMID: 27079884 Free PMC article.
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