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

scientific article published in June 1991

Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode1991PNAS...88.4761M
P356DOI10.1073/PNAS.88.11.4761
P932PMC publication ID51746
P698PubMed publication ID2052556
P5875ResearchGate publication ID21102585

P2093author name stringJ L Miller
D Cunningham
C N Finch
V A Lyle
P2860cites workDNA sequencing with chain-terminating inhibitorsQ22066207
Cloning of the alpha chain of human platelet glycoprotein Ib: a transmembrane protein with homology to leucine-rich alpha 2-glycoproteinQ24596653
Sequential tests for the detection of linkageQ24676543
Purification of botrocetin from Bothrops jararaca venom. Analysis of the botrocetin-mediated interaction between von Willebrand factor and the human platelet membrane glycoprotein Ib-IX complexQ28255295
A point mutation is responsible for the acquisition of transforming properties by the T24 human bladder carcinoma oncogeneQ28279136
Glycoprotein Ib and glycoprotein IX are fully complexed in the intact platelet membraneQ28304653
Polymorphic DNA region adjacent to the 5' end of the human insulin geneQ29618325
Protein structure and cancerQ30405142
Abnormality of glycoprotein Ib in two cases of "pseudo"-von Willebrand's diseaseQ33444527
Molecular defects in interactions of platelets with the vessel wallQ33477754
von Willebrand factor binds to platelets and induces aggregation in platelet-type but not type IIB von Willebrand diseaseQ33478102
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 multimersQ33481677
Human neutrophil elastase modulates platelet function by limited proteolysis of membrane glycoproteinsQ34532149
Structure of the human blood platelet membrane glycoprotein Ib alpha geneQ34556080
Structure and function of platelet membrane glycoproteins Ib and V. Effects of leukocyte elastase and other proteases on platelets response to von Willebrand factor and thrombinQ34562281
Mechanism of activation of a human oncogeneQ34708285
Detection of single DNA base differences by competitive oligonucleotide primingQ35222182
Biological properties of human c-Ha-ras1 genes mutated at codon 12.Q42817584
Increased platelet sensitivity to ristocetin is predicted by the binding characteristics of a GPIb/IX determinantQ43544501
Isolation and functional characterization of the von Willebrand factor-binding domain located between residues His1-Arg293 of the alpha-chain of glycoprotein Ib.Q43567942
Identification of a site in the alpha chain of platelet glycoprotein Ib that participates in von Willebrand factor bindingQ43643833
Point mutation analysis in a mammalian gene: rapid preparation of total RNA, PCR amplification of cDNA, and Taq sequencing by a novel methodQ44538844
Programs for pedigree analysis: Mendel, Fisher, and dGeneQ59760870
Evidence that an abnormality in the glycoprotein Ib alpha gene is not the cause of abnormal platelet function in a family with classic Bernard-Soulier diseaseQ68089845
Ristocetin-dependent reconstitution of binding of von Willebrand factor to purified human platelet membrane glycoprotein Ib-IX complexQ69021307
Isolation and characterization of human blood platelet mRNA and construction of a cDNA library in lambda gt11. Confirmation of the platelet derivation by identification of GPIb coding mRNA and cloning of a GPIb coding cDNA insertQ69763932
The von Willebrand factor-binding domain of platelet membrane glycoprotein Ib. Characterization by monoclonal antibodies and partial amino acid sequence analysis of proteolytic fragmentsQ70010199
Further characterization of platelet-type von Willebrand's disease in JapanQ70228109
Unique interactions of asialo von Willebrand factor with platelets in platelet-type von Willebrand diseaseQ70365831
Studies on the pathophysiology and treatment of von Willebrand's disease. IV. Mechanism of increased ristocetin-induced platelet aggregation in von Willebrand's diseaseQ71535514
Platelet-type von Willebrand's disease: characterization of a new bleeding disorderQ72939306
P433issue11
P407language of work or nameEnglishQ1860
P304page(s)4761-5
P577publication date1991-06-01
P1433published inProceedings of the National Academy of Sciences of the United States of AmericaQ1146531
P1476titleMutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease
P478volume88

Reverse relations

cites work (P2860)
Q33381163A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding
Q37408792A network medicine approach to human disease
Q41681294Acquired von Willebrand disease: concise review of occurrence, diagnosis, pathogenesis, and treatment
Q36407260Adhesive properties of the isolated amino-terminal domain of platelet glycoprotein Ibalpha in a flow field
Q36871645Asp330 and Tyr331 in the C-terminal cysteine-rich region of the luteinizing hormone receptor are key residues in hormone-induced receptor activation
Q21203026Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)
Q36986074Binding of platelet glycoprotein Ibalpha to von Willebrand factor domain A1 stimulates the cleavage of the adjacent domain A2 by ADAMTS13.
Q37107472Clinical, laboratory and therapeutic aspects of platelet-type von Willebrand disease
Q41926876Diagnosis and Management of Inherited Platelet Disorders
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Q79931774Effect of von Willebrand factor on the pharmacokinetics of recombinant human platelet glycoprotein Ibalpha-immunoglobulin G1 chimeric proteins
Q33899500Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment
Q30482774Flow-induced structural transition in the beta-switch region of glycoprotein Ib
Q36925330Functional analysis of a type IIB von Willebrand disease missense mutation: increased binding of large von Willebrand factor multimers to platelets
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