Literature DB >> 16757441

Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is frequently misdiagnosed as idiopathic thrombocytopenic purpura.

Shinji Kunishima, Toshiki Yamada, Motohiro Hamaguchi, Hidehiko Saito.   

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Year:  2006        PMID： 16757441     DOI： 10.1532/IJH97.06017

Source DB:  PubMed          Journal:  Int J Hematol        ISSN： 0925-5710            Impact factor:   2.490


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  7 in total

Review 1.  Genetic abnormalities of Bernard-Soulier syndrome.

Authors:  Shinji Kunishima; Tadashi Kamiya; Hidehiko Saito
Journal:  Int J Hematol       Date:  2002-11       Impact factor: 2.490

2.  Recurrent mutation Trp126 --> stop of glycoprotein IX in Japanese Bernard-Soulier syndrome.

Authors:  Tamiko Toyohama; Akitoshi Nagasaki; Kazuo Gushi; Kazumitsu Tamaki; Masato Masuda; Nobuyuki Takasu
Journal:  Platelets       Date:  2003-05       Impact factor: 3.862

3.  Vulnerable mutation Trp126-->stop of glycoprotein IX in Japanese Bernard-Soulier syndrome.

Authors:  M Iwanaga; S Kunishima; S Ikeda; M Tomonaga; T Naoe
Journal:  Eur J Haematol       Date:  1998-04       Impact factor: 2.997

4.  Corrected DNA sequence of the platelet glycoprotein IX gene.

Authors:  T Hayashi; K Suzuki; A Yahagi; J Akiba; K Tajima; S Satoh; H Sasaki
Journal:  Thromb Haemost       Date:  1997-05       Impact factor: 5.249

5.  Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities.

Authors:  M Noda; K Fujimura; T Takafuta; T Shimomura; T Fujimoto; N Yamamoto; K Tanoue; M Arai; A Suehiro; E Kakishita
Journal:  Thromb Haemost       Date:  1995-12       Impact factor: 5.249

Review 6.  Congenital macrothrombocytopenias.

Authors:  Shinji Kunishima; Hidehiko Saito
Journal:  Blood Rev       Date:  2005-09-19       Impact factor: 8.250

7.  Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura.

Authors:  Shinji Kunishima; Toshi Imai; Motohiro Hamaguchi; Hidehiko Saito
Journal:  Eur J Haematol       Date:  2006-04       Impact factor: 2.997
  7 in total
  4 in total

1.  Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.

Authors:  Yuka Takata; Taisuke Kanaji; Masaaki Moroi; Ritsuko Seki; Masayuki Sano; Sachie Nakazato; Eisaburo Sueoka; Yutaka Imamura; Takashi Okamura
Journal:  Int J Hematol       Date:  2012-11-11       Impact factor: 2.490

2.  A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome.

Authors:  Fabio Gentilini; Maria Elena Turba; Fiorella Giancola; Roberto Chiocchetti; Chiara Bernardini; Markéta Dajbychova; Vidhya Jagannathan; Michaela Drögemüller; Cord Drögemüller
Journal:  PLoS One       Date:  2019-09-04       Impact factor: 3.240

3.  Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study.

Authors:  Patrizia Noris; Catherine Klersy; Paolo Gresele; Fiorina Giona; Paola Giordano; Pietro Minuz; Giuseppe Loffredo; Alessandro Pecci; Federica Melazzini; Elisa Civaschi; Annamaria Mezzasoma; Monica Piedimonte; Fabrizio Semeraro; Dino Veneri; Francesco Menna; Laura Ciardelli; Carlo L Balduini
Journal:  Br J Haematol       Date:  2013-04-25       Impact factor: 6.998

4.  A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report.

Authors:  Imtinan K Alsahafi; Ibrahim Al-Harbi; Shahad M Aldor; Bilqis A Albarakati; Ghaida B Alahmadi
Journal:  Clin Case Rep       Date:  2018-02-27
  4 in total

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