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• W4247100342 startingPage "2968" @default.
• W4247100342 abstract "Bernard-Soulier syndrome is an uncommon bleeding disorder caused by a quantitative or qualitative defect in the platelet glycoprotein (GP)Ib/IX complex. The complex is composed of four subunits, GPIb, GPIbβ, GPIX, and GPV. Here we describe the molecular basis of a novel Bernard-Soulier syndrome variant in a patient in whom GPIb and GPIX were undetectable on the platelet surface. DNA sequence analysis showed normal sequence for GPIb, GPIX, and GPV. The GPIbβ gene has been mapped to the 22q11.2 region of chromosome 22 which was deleted from one chromosome of this patient. There was a single nucleotide deletion within the codon for Ala 80 in GPIbβ within the other allele. This mutation causes a translational frame shift that encodes for 86 altered amino acids and predicts a premature stop 15 amino acids short of the length of the wild-type protein. Transient coexpression of the mutant GPIbβ in 293T cells with wild-type GPIb and GPIX resulted in the surface expression of GPIb, but the absence of GPIX. Moreover, when a plasmid encoding the wild-type GPIbβ was transiently transfected into Chinese hamster ovary cells stably expressing GP, which retain the capacity to reexpress GPIX, there was a significant increase in the surface expression of GPIX. In contrast, when the mutant GPIbβ was transiently transfected into these cells, GPIX was not reexpressed on the plasma surface. Thus, a deletion of one copy of GPIbβ and a single nucleotide deletion in the codon for Ala 80 within the remaining GPIbβ allele causes the Bernard-Soulier phenotype through an interaction of GPIbβ with GPIX resulting in the absence of GPIb on the plasma membrane. The interaction of GPIbβ with GPIX is essential for the functional expression of GPIb." @default.
• W4247100342 created "2022-05-12" @default.
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• W4247100342 date "1999-05-01" @default.
• W4247100342 modified "2023-10-15" @default.
• W4247100342 title "The Critical Interaction of Glycoprotein (GP) Ibβ With GPIX—A Genetic Cause of Bernard-Soulier Syndrome" @default.
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• W4247100342 doi "https://doi.org/10.1182/blood.v93.9.2968.409a15_2968_2975" @default.
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