Kunishima S - Search Results

1

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.

Kitamura K, Okuno Y, Yoshida K, Sanada M, Shiraishi Y, Muramatsu H, Kobayashi R, Furukawa K, Miyano S, Kojima S, Ogawa S, Kunishima S. Kitamura K, et al. Among authors: kunishima s. J Thromb Haemost. 2016 Jul;14(7):1462-9. doi: 10.1111/jth.13350. Epub 2016 Jun 13. J Thromb Haemost. 2016. PMID: 27122003 Free article.

2

A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form.

Kurokawa Y, Ishida F, Kamijo T, Kunishima S, Kenny D, Kitano K, Koike K. Kurokawa Y, et al. Among authors: kunishima s. Thromb Haemost. 2001 Nov;86(5):1249-56. Thromb Haemost. 2001. PMID: 11816714

3

In vitro characterization of missense mutations associated with quantitative protein S deficiency.

Okada H, Yamazaki T, Takagi A, Murate T, Yamamoto K, Takamatsu J, Matsushita T, Naoe T, Kunishima S, Hamaguchi M, Saito H, Kojima T. Okada H, et al. Among authors: kunishima s. J Thromb Haemost. 2006 Sep;4(9):2003-9. doi: 10.1111/j.1538-7836.2006.02061.x. J Thromb Haemost. 2006. PMID: 16961607 Free article.

4

Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.

Kunishima S, Kobayashi R, Itoh TJ, Hamaguchi M, Saito H. Kunishima S, et al. Blood. 2009 Jan 8;113(2):458-61. doi: 10.1182/blood-2008-06-162610. Epub 2008 Oct 10. Blood. 2009. PMID: 18849486 Free article.

5

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.

6

ACTN1 mutations cause congenital macrothrombocytopenia.

Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S. Kunishima S, et al. Am J Hum Genet. 2013 Mar 7;92(3):431-8. doi: 10.1016/j.ajhg.2013.01.015. Epub 2013 Feb 21. Am J Hum Genet. 2013. PMID: 23434115 Free PMC article.

7

Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion.

Kunishima S, Imai T, Kobayashi R, Kato M, Ogawa S, Saito H. Kunishima S, et al. Pediatr Int. 2013 Aug;55(4):434-7. doi: 10.1111/ped.12105. Pediatr Int. 2013. PMID: 23566026

8

Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders.

Kitamura K, Yoshida K, Shiraishi Y, Chiba K, Tanaka H, Furukawa K, Miyano S, Ogawa S, Kunishima S. Kitamura K, et al. Among authors: kunishima s. J Thromb Haemost. 2013 Nov;11(11):2071-3. doi: 10.1111/jth.12406. J Thromb Haemost. 2013. PMID: 24106837 Free article. No abstract available.

9

TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia.

Kunishima S, Nishimura S, Suzuki H, Imaizumi M, Saito H. Kunishima S, et al. Eur J Haematol. 2014 Apr;92(4):276-82. doi: 10.1111/ejh.12252. Epub 2014 Jan 11. Eur J Haematol. 2014. PMID: 24344610

10

Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents.

Kunishima S, Kitamura K, Matsumoto T, Sekine T, Saito H. Kunishima S, et al. Br J Haematol. 2014 Jun;165(6):885-7. doi: 10.1111/bjh.12797. Epub 2014 Feb 24. Br J Haematol. 2014. PMID: 24611568 Free article. No abstract available.

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