Linked Life Data

11150026

Source:http://linkedlifedata.com/resource/pubmed/id/11150026

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2001-1-26
pubmed:abstractText
We describe a von Willebrand disease (VWD) variant characterized by low plasma and platelet von Willebrand factor (VWF), impaired ristocetin-induced VWF binding to platelet glycoprotein Ib (GPIb), and abnormal VWF multimer pattern not associated with the absence of large forms. A C-to-T transition at nucleotide 4120 in exon 28 of the VWF gene was found; this mutation introduces a cysteine at the codon for Arg 611 of mature VWF. In addition to the decreased factor VIII (FVIII) and VWF levels, ristocetin-induced platelet aggregation (RIPA) was almost absent, and VWF ristocetin cofactor activity (VWF:RCo) was significantly more decreased than VWF antigen. The patients (mother and son) also showed a defect in VWF collagen-binding activity. Plasma VWF multimers were decreased, with no limit in the size of large forms, and the normal discontinuous multimer organization was replaced by a diffuse smear, especially detectable in the large forms. This picture was emphasized by 1-deamino-8-D -arginine vasopressin (DDAVP) infusion, so that the abnormal VWF multimers appeared to have a molecular weight higher than those present in, or released by, human umbilical vein endothelial cells. DDAVP also increased FVIII and VWF levels but did not normalize the GPIb-dependent VWF functions expressed as RIPA and VWF:RCo. We include this variant in type 2M VWD, focusing on the abnormality in GPIb-dependent VWF function. We advance that this defect depends on the mutation in the GPIb binding domain of VWF rather than the abnormal VWF multimer pattern.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0022-2143
pubmed:author
pubmed:issnType
Print
pubmed:volume
137
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
70-6
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:11150026-Adult, pubmed-meshheading:11150026-Anti-Bacterial Agents, pubmed-meshheading:11150026-Cells, Cultured, pubmed-meshheading:11150026-Collagen, pubmed-meshheading:11150026-Deamino Arginine Vasopressin, pubmed-meshheading:11150026-Endothelium, Vascular, pubmed-meshheading:11150026-Factor VIII, pubmed-meshheading:11150026-Family Health, pubmed-meshheading:11150026-Female, pubmed-meshheading:11150026-Hemostatics, pubmed-meshheading:11150026-Humans, pubmed-meshheading:11150026-Male, pubmed-meshheading:11150026-Middle Aged, pubmed-meshheading:11150026-Molecular Weight, pubmed-meshheading:11150026-Platelet Aggregation, pubmed-meshheading:11150026-Point Mutation, pubmed-meshheading:11150026-Polymers, pubmed-meshheading:11150026-Ristocetin, pubmed-meshheading:11150026-Umbilical Veins, pubmed-meshheading:11150026-von Willebrand Diseases, pubmed-meshheading:11150026-von Willebrand Factor
pubmed:year
2001
pubmed:articleTitle
Type 2M von Willebrand disease variant characterized by abnormal von willebrand factor multimerization.
pubmed:affiliation
Department of Medical and Surgical Sciences and the Second Chair of Internal Medicine, University of Padua Medical School, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't