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Article

Effect of type IIB von Willebrand disease mutation Arg(545)Cys on platelet glycoprotein Ib binding--studies with recombinant von Willebrand factor.

Thrombosis and haemostasis - 20 Dec 1993

Inbal A, Kornbrot N, Harrison P, Randi A M, Sadler J E

Abstract excerpt

Type IIB von Willebrand disease (vWD) is characterized by a selective loss of high molecular weight von Willebrand factor (vWF) multimers in plasma due to their abnormally enhanced reactivity with platelets. Several missense mutations in the platelet glycoprotein Ib (GPIb) binding domain of vWF were recently characterized that cause type IIB vWD. The effect of type IIB mutation Arg(545)Cys on vWF binding to...

Topics

Arginine
Base Sequence
Blood Platelets
Cysteine
Humans
Molecular Sequence Data
Mutation
Platelet Membrane Glycoproteins
Recombinant Proteins
Ristocetin
von Willebrand Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

von Willebrand Factor

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PMID: 8165601

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8165601-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Effect of type IIB von Willebrand disease mutation Arg(545)Cys on platelet glycoprotein Ib binding--studies with recombinant von Willebrand factor.PMID 8165601Read ↗

Recombinant von Willebrand factor Arg578-->Gln. A type IIB von Willebrand disease mutation affects binding to glycoprotein Ib but not to collagen or heparin.Semantic proximity Read ↗

Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu.Semantic proximity Read ↗

Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib.Semantic proximity Read ↗

Functional analysis of a type IIB von Willebrand disease missense mutation: increased binding of large von Willebrand factor multimers to platelets.Semantic proximity Read ↗

Discrepancy between IIA phenotype and IIB genotype in a patient with a variant of von Willebrand disease.Semantic proximity Read ↗

Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.Semantic proximity Read ↗

Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor.Semantic proximity Read ↗

Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease.Semantic proximity Read ↗

Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin- but not botrocetin-mediated binding of von Willebrand factor to platelets.Semantic proximity Read ↗

Phenotype changes resulting in high-affinity binding of von Willebrand factor to recombinant glycoprotein Ib-IX: analysis of the platelet-type von Willebrand disease mutations.Semantic proximity Read ↗

Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets.Semantic proximity Read ↗

Gain of von Willebrand factor-binding function by mutagenesis of a species-conserved residue within the leucine-rich repeat region of platelet glycoprotein Ibalpha.Semantic proximity Read ↗

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