PubMed (cited) for id: 619271

Year	Number of Results
2007	1
2008	1
2009	1
2010	1
2011	2
2012	1
2013	1
2024	0

1

Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis.

Kobayashi Y, Matsui H, Kanai A, Tsumura M, Okada S, Miki M, Nakamura K, Kunishima S, Inaba T, Kobayashi M. Kobayashi Y, et al. Br J Haematol. 2013 Feb;160(4):521-9. doi: 10.1111/bjh.12160. Epub 2012 Dec 17. Br J Haematol. 2013. PMID: 23253071 Free article.

2

Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin.

Nurden AT, Pillois X, Fiore M, Heilig R, Nurden P. Nurden AT, et al. Semin Thromb Hemost. 2011 Sep;37(6):698-706. doi: 10.1055/s-0031-1291380. Epub 2011 Nov 18. Semin Thromb Hemost. 2011. PMID: 22102273 Review.

3

Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.

Kunishima S, Kashiwagi H, Otsu M, Takayama N, Eto K, Onodera M, Miyajima Y, Takamatsu Y, Suzumiya J, Matsubara K, Tomiyama Y, Saito H. Kunishima S, et al. Blood. 2011 May 19;117(20):5479-84. doi: 10.1182/blood-2010-12-323691. Epub 2011 Mar 31. Blood. 2011. PMID: 21454453 Free article.

4

L718P mutation in the membrane-proximal cytoplasmic tail of beta 3 promotes abnormal alpha IIb beta 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype.

Jayo A, Conde I, Lastres P, Martínez C, Rivera J, Vicente V, González-Manchón C. Jayo A, et al. Haematologica. 2010 Jul;95(7):1158-66. doi: 10.3324/haematol.2009.018572. Epub 2010 Jan 15. Haematologica. 2010. PMID: 20081061 Free PMC article.

5

Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families.

Gresele P, Falcinelli E, Giannini S, D'Adamo P, D'Eustacchio A, Corazzi T, Mezzasoma AM, Di Bari F, Guglielmini G, Cecchetti L, Noris P, Balduini CL, Savoia A. Gresele P, et al. Haematologica. 2009 May;94(5):663-9. doi: 10.3324/haematol.2008.002246. Epub 2009 Mar 31. Haematologica. 2009. PMID: 19336737 Free PMC article.

6

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.

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