The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain
about
Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein CThe venomous cocktail of the vampire snail Colubraria reticulata (Mollusca, Gastropoda)Critical von Willebrand factor A1 domain residues influence type VI collagen binding.von Willebrand disease type 2B must be always considered in the differential diagnosis of genetic thrombocytopenias with giant platelets.Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand diseaseInherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdueLow shear stress can initiate von Willebrand factor-dependent platelet aggregation in patients with type IIB and platelet-type von Willebrand disease.Giant platelet disorder in a patient with type 2B von Willebrand's disease.Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment.von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation.The molecular biology of von Willebrand disease.Von Willebrand factor and von Willebrand disease.Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence.Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand diseaseO-linked carbohydrate of recombinant von Willebrand factor influences ristocetin-induced binding to platelet glycoprotein 1b.Functional analysis of a type IIB von Willebrand disease missense mutation: increased binding of large von Willebrand factor multimers to plateletsA monomeric von Willebrand factor fragment, Leu-504--Lys-728, inhibits von Willebrand factor interaction with glycoprotein Ib-IX [corrected]von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib.von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein.An update on type 2B von Willebrand disease.GPIbalpha-selective activation of platelets induces platelet signaling events comparable to GPVI activation events.Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.Management of type 2b von Willebrand disease in the neonatal period.Platelet ultrastructural abnormalities in three patients with type 2B von Willebrand disease
P2860
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P2860
The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain
description
1991 nî lūn-bûn
@nan
1991 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
The molecular defect in type I ...... e putative GpIb binding domain
@ast
The molecular defect in type I ...... e putative GpIb binding domain
@en
type
label
The molecular defect in type I ...... e putative GpIb binding domain
@ast
The molecular defect in type I ...... e putative GpIb binding domain
@en
prefLabel
The molecular defect in type I ...... e putative GpIb binding domain
@ast
The molecular defect in type I ...... e putative GpIb binding domain
@en
P2093
P2860
P3181
P356
P1476
The molecular defect in type I ...... e putative GpIb binding domain
@en
P2093
A D Shapiro
D Ginsburg
H R Gralnick
K A Cooney
W C Nichols
P2860
P304
P3181
P356
10.1172/JCI115123
P407
P577
1991-04-01T00:00:00Z