Phenotypic Consequence of the Gene Abnormality in the Platelet Glycoprotein IX Gene Observed in a Patient with Bernard-Soulier Syndrome through Mammalian Cell Expression System

Suzuki, Keijiroh; Hayashi, Tomohiro; Akiba, Jiro; Satoh, Shuichi; Kato, Takeshi

doi:10.1016/s0049-3848(99)00047-x

Cited by 7 publications

(2 citation statements)

References 18 publications

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“… 38 As a result, they have emerged as the primary platform for analyzing GPIb-V-IX receptor assembly and the effects of diverse mutations identified in BSS patients. 39 , 40 , 41 , 42 , 43 , 44 , 45 …”

Section: Discussionmentioning

confidence: 99%

Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C

Martinez-Navajas,

Ceron-Hernandez,

Simon

et al. 2023

Molecular Therapy - Nucleic Acids

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Section: Discussionmentioning

confidence: 99%

Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C

Martinez-Navajas,

Ceron-Hernandez,

Simon

et al. 2023

Molecular Therapy - Nucleic Acids

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“…A stable transfectant for GPIb β IX‐expressing CHO cells was established, as described previously (Suzuki et al , 1999). A cDNA encoding the GPIb α sequence was cloned into a pBluescript KS (−) as described previously (Suzuki et al , 1999) and was subcloned into a mammalian expression vector pcDNA 3·1 Hygro (+) (Invitrogen) using the restriction sites for Kpn I (Takara Shuzo) and Not I. We prepared four types of plasmids for expression, T1R, M1R, T4R, and M4R.…”

Section: Establishment Of Cho Cells Expressing the Gpibαβix Complexmentioning

confidence: 99%

Platelet glycoprotein Ib alpha polymorphisms affect the interaction with von Willebrand factor under flow conditions

Matsubara

Murata

Hayashi³

et al. 2005

Br J Haematol

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Summary Interaction of platelet glycoprotein (GP) Ibα with von Willebrand factor (VWF) is essential for thrombus formation, particularly under high shear conditions. Previous case–control studies indicated that two GPIbα polymorphisms, 145Thr/Met and/or variable number (1–4) tandem repeats of 13 amino‐acid sequences, are associated with arterial thrombosis. The 145Met‐allele and the 3R‐ or 4R‐allele is associated with increased risk. However, there is little clear experimental data to support this association. To elucidate the functional effects of these polymorphisms, we prepared recombinant GPIbα fragments and tested them in vitro. The dissociation constants of ristocetin‐induced 125I‐labelled VWF binding to two forms of soluble recombinant GPIbα [1His–302Ala, either 145Thr (145T) or 145Met (145M)] were not different. Four types of Chinese hamster ovary cells expressing full‐length GPIbαβ/IX, 145T with one repeat (T1R), 145M with one repeat (M1R), 145T with four repeats (T4R), and 145M with four repeats (M4R), were prepared, and cell interactions with immobilized‐VWF were examined under various shear conditions. The cell rolling velocity of M4R under a shear condition of 114/s was significantly slower than that of T1R. Intermediate values were obtained with M1R and T4R. The results suggest that M4R interacts more strongly with VWF under flow conditions.

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Spectrum of the Mutations in Bernard-Soulier Syndrome

et al. 2014

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Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb-IX-V complex, a platelet receptor for von Willebrand factor (VWF). Most of the mutations identified in the genes encoding for the GP1BA (GPIbα), GP1BB (GPIbβ), and GP9 (GPIX) subunits prevent expression of the complex at the platelet membrane or more rarely its interaction with VWF. As a consequence, platelets are unable to adhere to the vascular subendothelium and agglutinate in response to ristocetin. In order to collect information on BSS patients, we established an International Consortium for the study of BSS, allowing us to enrol and genotype 132 families (56 previously unreported). With 79 additional families for which molecular data were gleaned from the literature, the 211 families characterized so far have mutations in the GP1BA (28%), GP1BB (28%), or GP9 (44%) genes. There is a wide spectrum of mutations with 112 different variants, including 22 novel alterations. Consistent with the rarity of the disease, 85% of the probands carry homozygous mutations with evidence of founder effects in some geographical areas. This overview provides the first global picture of the molecular basis of BSS and will lead to improve patient diagnosis and management.

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Phenotypic Consequence of the Gene Abnormality in the Platelet Glycoprotein IX Gene Observed in a Patient with Bernard-Soulier Syndrome through Mammalian Cell Expression System

Cited by 7 publications

References 18 publications

Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C

Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C

Platelet glycoprotein Ib alpha polymorphisms affect the interaction with von Willebrand factor under flow conditions

Spectrum of the Mutations in Bernard-Soulier Syndrome

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