Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association

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Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1172/JCI117828
P932PMC publication ID295643
P698PubMed publication ID7706461
P5875ResearchGate publication ID15493634

P2093author name stringP J Newman
S Lyman
J C Gill
D A Wilcox
C M Paddock
P2860cites workSer-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombastheniaQ28118972
Exposure of platelet fibrinogen receptors by ADP and epinephrineQ33473239
Platelet membrane defects in Glanzmann's thrombasthenia. Evidence for decreased amounts of two major glycoproteinsQ33483955
Platelets have more than one binding site for von Willebrand factorQ33821754
Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.Q34119585
A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombastheniaQ34177601
A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutationQ34221553
Divalent cation regulation of the surface orientation of platelet membrane glycoprotein IIb. Correlation with fibrinogen binding function and definition of a novel variant of Glanzmann's thrombastheniaQ34543964
Enzymatic amplification of platelet-specific messenger RNA using the polymerase chain reactionQ34560935
A variant of Glanzmann's thrombasthenia with abnormal glycoprotein IIb-IIIa complexes in the platelet membraneQ34565483
Biogenesis of the platelet receptor for fibrinogen: evidence for separate precursors for glycoproteins IIb and IIIaQ35593515
Glanzmann thrombasthenia: deficient binding of von Willebrand factor to thrombin-stimulated plateletsQ36314768
Glanzmann's thrombasthenia: the spectrum of clinical diseaseQ37909047
Integrins and other cell adhesion moleculesQ37944961
A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complexQ38311244
A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformationQ38339624
Quantitation of membrane glycoprotein IIIa on intact human platelets using the monoclonal antibody, AP-3.Q41393387
Study of the endoproteolytic cleavage of platelet glycoprotein IIb using oligonucleotide-mediated mutagenesisQ41653285
Complete localization of the intrachain disulphide bonds and the N-glycosylation points in the alpha-subunit of human platelet glycoprotein IIb.Q42163885
Proteolytic dissection of the isolated platelet fibrinogen receptor, integrin GPIIb/IIIa. Localization of GPIIb and GPIIIa sequences putatively involved in the subunit interface and in intrasubunit and intrachain contactsQ42792964
Processing and assembly of the integrin, glycoprotein IIb-IIIa, in HEL cells.Q45073222
A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site.Q46071171
The ligand binding site of the platelet integrin receptor GPIIb-IIIa is proximal to the second calcium binding domain of its alpha subunit.Q46739334
The integrin alpha IIb-beta 3, platelet glycoprotein IIb-IIIa, can form a functionally active heterodimer complex without the cysteine-rich repeats of the beta 3 subunit.Q52543198
Calcium cation regulation of glycoprotein IIb-IIIa complex formation in platelet plasma membranesQ54491133
Biochemical and functional consequences of dissociation of the platelet membrane glycoprotein IIb-IIIa complexQ67294160
Ca(2+)-binding properties of the platelet glycoprotein IIb ligand-interacting domainQ67728165
Polymorphism of human platelet membrane glycoprotein IIb associated with the Baka/Bakb alloantigen systemQ68809205
Inhibition of fibrin(ogen) binding to stimulated platelets by a monoclonal antibody specific for a conformational determinant of GPIIIaQ68886418
Effect of calcium on the stability of the platelet membrane glycoprotein IIb-IIIa complexQ68934463
Biosynthesis and assembly of platelet GPIIb-IIIa in human megakaryocytes: evidence that assembly between pro-GPIIb and GPIIIa is a prerequisite for expression of the complex on the cell surfaceQ69102776
A variant of Glanzmann's thrombasthenia characterized by abnormal glycoprotein IIb/IIIa complex formationQ69257545
Platelet membrane glycoprotein IIb heavy chain forms a complex with glycoprotein IIIa that binds Arg-Gly-Asp peptidesQ69597069
Isolation and structural characterization of the polypeptide subunits of membrane glycoprotein IIb-IIIa from human plateletsQ70265119
The formation of Ca++-dependent complexes of platelet membrane glycoproteins IIb and IIIa in solution as determined by crossed immunoelectrophoresisQ70549345
Identification of two structurally and functionally distinct sites on human platelet membrane glycoprotein IIb-IIIa using monoclonal antibodiesQ72779664
Interaction of AP-2, a monoclonal antibody specific for the human platelet glycoprotein IIb-IIIa complex, with intact plateletsQ72797414
Platelet function in a patient with thrombastheniaQ72811872
Thrombocytoasthenia and thrombocytopathia-old names and new diseasesQ74242714
THROMBASTHENIA. STUDIES ON THREE CASESQ76878131
P433issue4
P407language of work or nameEnglishQ1860
P304page(s)1553-1560
P577publication date1995-04-01
P1433published inJournal of Clinical InvestigationQ3186904
P1476titleGlanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association
P478volume95

Reverse relations

cites work (P2860)
Q47287050A novel Phe171Cys mutation in integrin alpha causes Glanzmann thrombasthenia by abrogating alphabeta complex formation
Q30395492An αIIb mutation in patients with Glanzmann thrombasthenia located in the N‐terminus of blade 1 of the β‐propeller (Asn2Asp) disrupts a calcium binding site in blade 6
Q37873940Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations?
Q36950139Defining extracellular integrin alpha-chain sites that affect cell adhesion and adhesion strengthening without altering soluble ligand binding
Q34158852Demystified...adhesion molecule deficiencies
Q37836200Do cell junction protein mutations cause an airway phenotype in mice or humans?
Q57591186Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia
Q37360713Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection
Q33571529Glanzmann thrombasthenia: state of the art and future directions
Q41071081Granulocyte adhesion molecules--structure/function relationships
Q36870012Hematologically Important Mutations: Glanzmann Thrombasthenia
Q34731123Insights into integrin-ligand binding and activation from the first crystal structure.
Q41481792Ligand binding and affinity modulation of integrins
Q28216926Molecular basis of Glanzmann's Thrombasthenia and current strategies in treatment
Q40608458Mutations in and near the second calcium-binding domain of integrin alphaIIb affect the structure and function of integrin alphaIIbbeta3.
Q50159018Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients
Q35035160Platelet gene therapy improves hemostatic function for integrin alphaIIbbeta3-deficient dogs
Q34496409Platelet integrin alphaIIbbeta3-ligand interactions: what can we learn from the structure?
Q41553346The biologic and clinical spectrum of Glanzmann's thrombasthenia: implications of integrin alpha IIb beta 3 for its pathogenesis
Q35998499The regulation of integrin function by divalent cations
Q35039053Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-alphaIIb, but variably impaired progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi
Q37374506Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex

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