(Q37662314)

21 August 2017

Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease (English)

1 reference

21 August 2017

R Schneppenheim

1

1 reference

21 August 2017

J Brassard

2

1 reference

21 August 2017

S Krey

3

1 reference

21 August 2017

U Budde

4

1 reference

21 August 2017

T J Kunicki

5

1 reference

21 August 2017

L Holmberg

6

1 reference

21 August 2017

J Ware

7

1 reference

21 August 2017

Z M Ruggeri

8

1 reference

21 August 2017

language of work or name

English

0 references

publication date

1 April 1996

1 reference

Proceedings of the National Academy of Sciences of the United States of America

21 August 2017

1 reference

21 August 2017

93

1 reference

21 August 2017

8

1 reference

21 August 2017

3581-3586

1 reference

21 August 2017

von Willebrand factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Biosynthesis of the subunits of factor VIIIR by bovine aortic endothelial cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Investigation of a kindred with a new autosomal dominantly inherited variant type von Willebrand's disease (possible type IID).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Amino acid sequence of human von Willebrand factor

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Subunit composition of plasma von Willebrand factor. Cleavage is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID, and IIE).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Rapid and efficient site-specific mutagenesis without phenotypic selection

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Substructure of human von Willebrand factor

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Epitope mapping of the von Willebrand factor subunit distinguishes fragments present in normal and type IIA von Willebrand disease from those generated by plasmin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Heterogeneity of plasma von Willebrand factor multimers resulting from proteolysis of the constituent subunit

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

A computer program for selection of oligonucleotide primers for polymerase chain reactions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Enzyme-linked immunoabsorbent assay of factor VIII-related antigen. Interest in study of Von Willerbrand's disease (author's transl)

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Domains involved in multimer assembly of von willebrand factor (vWF): multimerization is independent of dimerization.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

A new variant of dominant type II von Willebrand's disease with aberrant multimeric pattern of factor VIII-related antigen (type IID).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Isolation and characterization of human Factor VIII (antihemophilic factor).

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Topology and order of formation of interchain disulfide bonds in von Willebrand factor.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

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

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Independent assembly and secretion of a dimeric adhesive domain of von Willebrand factor containing the glycoprotein Ib-binding site.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=39653

A severe haemorrhagic disorder with prolonged bleeding time due to a plasma defect but with normal factor VIII

1 September 2018

1 reference

12 December 2020

Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease

1 reference

12 December 2020

Letter: A method for assaying von Willebrand factor (ristocetin cofactor)

1 reference

12 December 2020

The complex multimeric composition of factor VIII/von Willebrand factor

1 reference

12 December 2020

Biosynthesis of von Willebrand protein by human endothelial cells. Identification of a large precursor polypeptide chain

1 reference

12 December 2020

Limited proteolysis of human von Willebrand factor by Staphylococcus aureus V-8 protease: isolation and partial characterization of a platelet-binding domain

1 reference

12 December 2020

An ELISA test for the binding of von Willebrand antigen to collagen

1 reference

12 December 2020

Substructure of human von Willebrand factor. Proteolysis by V8 and characterization of two functional domains

1 reference

12 December 2020

A heparin-binding domain of human von Willebrand factor. Characterization and localization to a tryptic fragment extending from amino acid residue Val-449 to Lys-728

1 reference

12 December 2020

von Willebrand factor and von Willebrand disease

1 reference

12 December 2020

Identification of a candidate missense mutation in a family with von Willebrand disease type IIC

1 reference

12 December 2020

A one-stage factor VIII (antihaemophilic globulin) assay and its use on venous and capillary plasma

1 reference

12 December 2020

Identification of disulfide-bridged substructures within human von Willebrand factor

1 reference

12 December 2020

Luminography--an alternative assay for detection of von Willebrand factor multimers

1 reference

12 December 2020

Disulfide bond requirements for assembly of the platelet glycoprotein Ib-binding domain of von Willebrand factor

1 reference

12 December 2020

von Willebrand disease: a database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee

1 reference

12 December 2020

The standardized normal Ivy bleeding time and its prolongation by aspirin

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.93.8.3581

1 reference

21 August 2017

0 references

1 reference

21 August 2017

PubMed publication ID

8622978

1 reference