Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations (Q33372673)

26 July 2017

title

Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations (English)

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26 July 2017

main subject

Bernard-Soulier syndrome

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Shinji Kunishima

1

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26 July 2017

Masahiro Sako

2

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Tomio Yamazaki

3

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26 July 2017

Motohiro Hamaguchi

4

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26 July 2017

Hidehiko Saito

5

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26 July 2017

publication date

15 September 2006

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European Journal of Haematology

26 July 2017

published in

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volume

77

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issue

6

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page(s)

501-512

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26 July 2017

cites work

Glycoprotein Ib-IX-V.

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https://api.crossref.org/works/10.1111%2FJ.0902-4441.2006.T01-1-EJH2817.X

Interaction between von Willebrand factor and glycoprotein Ib activates Src kinase in human platelets: role of phosphoinositide 3-kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0902-4441.2006.T01-1-EJH2817.X

Signaling through GP Ib-IX-V activates alpha IIb beta 3 independently of other receptors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0902-4441.2006.T01-1-EJH2817.X

Reversible Ca2+-dependent translocation of protein kinase C and glucose-induced insulin release.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0902-4441.2006.T01-1-EJH2817.X

Regulation of von Willebrand factor binding to the platelet glycoprotein Ib-IX by a membrane skeleton-dependent inside-out signal

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0902-4441.2006.T01-1-EJH2817.X

Filamin A binding to the cytoplasmic tail of glycoprotein Ibalpha regulates von Willebrand factor-induced platelet activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0902-4441.2006.T01-1-EJH2817.X

Further characterization of anti-platelet monoclonal antibody HPL5 as anti-glycoprotein V antibody

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0902-4441.2006.T01-1-EJH2817.X

Rapid detection of plasma glycocalicin by a latex agglutination test. A useful adjunct in the differential diagnosis of thrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0902-4441.2006.T01-1-EJH2817.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0902-4441.2006.T01-1-EJH2817.X

Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0902-4441.2006.T01-1-EJH2817.X

Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0902-4441.2006.T01-1-EJH2817.X

Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0902-4441.2006.T01-1-EJH2817.X

Synthesis, assembly, and intracellular transport of the platelet glycoprotein Ib-IX-V complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0902-4441.2006.T01-1-EJH2817.X

10.1111/J.0902-4441.2006.T01-1-EJH2817.X

21 January 2018

Identifiers

DOI

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26 July 2017

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