(Q34421530)

2 August 2017

1 reference

title

The molecular biology of von Willebrand disease. (English)

1 reference

2 August 2017

0 references

Keeney S

1

1 reference

PubMed ID

11683782

2 August 2017

Cumming AM

series ordinal

2

1 reference

2 August 2017

1 August 2001

1 reference

International Journal of Laboratory Hematology

2 August 2017

1 reference

2 August 2017

23

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2 August 2017

4

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2 August 2017

209-230

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A monoclonal antibody to von Willebrand factor (vWF) inhibits factor VIII binding. Localization of its antigenic determinant to a nonadecapeptide at the amino terminus of the mature vWF polypeptide

2 August 2017

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

A relatively high frequency of severe (type III) von Willebrand's disease in Israel

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

von Willebrand factor: clinical features of inherited and acquired disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Apparent ‘dominant’ and ‘recessive’ inheritance of von Willebrand's disease within the same kindreds. Possible biochemical mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Structure of pre-pro-von Willebrand factor and its expression in heterologous cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Nucleotide sequence of pre-pro-von Willebrand factor cDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

An infrequent DNA polymorphism associated with severe von Willebrand's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: new mutations, R1315C and R1341W, associated with type 2M and 2B variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Autosomal dominant type 1 von willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

A novel candidate mutation (Arg611-->His) in type I 'platelet discordant' von Willebrand's disease with desmopressin-induced thrombocytopenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Functional analysis of a type IIB von Willebrand disease missense mutation: increased binding of large von Willebrand factor multimers to platelets

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Polymerase chain reaction amplification of two polymorphic simple repeat sequences within the von Willebrand factor gene: application to family studies in von Willebrand disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

The inheritance and molecular genetics of von Willebrand's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Propolypeptide of von Willebrand factor circulates in blood and is identical to von Willebrand antigen II

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Carbohydrate moiety of von Willebrand factor is not necessary for maintaining multimeric structure and ristocetin cofactor activity but protects from proteolytic degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Substructure of human von Willebrand factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Identification of two point mutations in the von Willebrand factor gene of three families with the ‘Normandy’variant of von Willebrand disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Type IIB von Willebrand's disease presenting as thrombocytopenia during pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Characterization of the human factor VIII gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Von Willebrand's disease with spontaneous platelet aggregation induced by an abnormal plasma von Willebrand factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Role of carbohydrate in multimeric structure of factor VIII/von Willebrand factor protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Functional inactivation of genes by dominant negative mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Synthesis of von Willebrand factor by cultured human endothelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Mutations in the FVIII gene in seven families with mild haemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Inactivation of human factor VIII by activated protein C. Cofactor activity of protein S and protective effect of von Willebrand factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Molecular cloning of cDNA for human von Willebrand factor: authentication by a new method

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Atherosclerosis and von Willebrand factor. I. Prevalence of severe von Willebrand's disease in western Europe and Israel

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Identification of amino acid residues essential for von Willebrand factor binding to platelet glycoprotein Ib. Charged-to-alanine scanning mutagenesis of the A1 domain of human von Willebrand factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Evidence for a von Willebrand factor defect in factor VIII binding in three members of a family previously misdiagnosed mild haemophilia A and haemophilia A carriers: consequences for therapy and genetic counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Investigation of a large kindred with type IIB von Willebrand's disease, dominant inheritance and age-dependent thrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

von Willebrand's disease antigen II. A new plasma and platelet antigen deficient in severe von Willebrand's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Synthesis of Factor VIII Antigen by Cultured Guinea Pig Megakaryocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Nucleotide sequence of the psiA (plasmid SOS inhibition) gene located on the leading region of plasmids F and R6-5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant v

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

The effects of epinephrine infusion in patients with von Willebrand's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Aberrant multimeric structure of von Willebrand factor in a new variant of von Willebrand's disease (type IIC)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Variant von Willebrand's disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Cloning and characterization of two cDNAs coding for human von Willebrand factor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Initiation of platelet adhesion by arrest onto fibrinogen or translocation on von Willebrand factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Genetic heterogeneity of severe von Willebrand disease type III in the German population

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Evolution of human von Willebrand factor: cDNA sequence polymorphisms, repeated domains, and relationship to von Willebrand antigen II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Gene deletions correlate with the development of alloantibodies in von Willebrand disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

A novel case of compound heterozygosity with "Normandy"/type I von Willebrand disease (vWD). Direct demonstration of the segregation of one allele with a defective expression at the mRNA level causing type I vWD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Biosynthesis of von Willebrand protein by human megakaryocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Family studies in von Willebrand's disease by analysis of restriction fragment length polymorphisms and an intragenic variable number tandem repeat (VNTR) sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Amino acid sequence of human von Willebrand factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Molecular cloning of a cDNA encoding human antihaemophilic factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Laboratory diagnosis of von Willebrand's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Expression of von Willebrand factor "Normandy": an autosomal mutation that mimics hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Construction of cDNA coding for human von Willebrand factor using antibody probes for colony-screening and mapping of the chromosomal gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Assembly and routing of von Willebrand factor variants: the requirements for disulfide-linked dimerization reside within the carboxy-terminal 151 amino acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Biosynthesis of von Willebrand protein by human endothelial cells: processing steps and their intracellular localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Initial glycosylation and acidic pH in the Golgi apparatus are required for multimerization of von Willebrand factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Induction of specific storage organelles by von Willebrand factor propolypeptide

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Stabilization of factor VIII in plasma by the von Willebrand factor. Studies on posttransfusion and dissociated factor VIII and in patients with von Willebrand's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Prevalence of von Willebrand disease in children: a multiethnic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2257.2001.00400.X

10.1046/J.1365-2257.2001.00400.X

21 January 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference

PubMed ID

11683782