A novel 196Leu to Pro substitution in the β3 subunit of the αIIbβ3 integrin in a patient with a variant form of Glanzmann thrombasthenia

Platelets

Volumn 13, Issue 2, 2002, Pages 101-111

  Nurden, Alan T ^a   Ruan, Jian ^a   Pasquet, Jean Max ^a   Gauthier, Bruno ^a   Combrié, Robert ^a   Kunicki, Thomas ^b   Nurden, Paquita ^a  

^a HAUT LÉVÊQUE HOSPITAL   (France)

^b SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN; INTEGRIN; FIBRINOGEN RECEPTOR; LEUCINE; PROLINE; PROTEIN SUBUNIT;

AGED; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; GENE MUTATION; GLANZMANN DISEASE; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; THROMBOCYTE ACTIVATION; THROMBOCYTE AGGREGATION; BLOOD; FAMILY HEALTH; GENETIC VARIABILITY; GENETICS; METABOLISM; NUCLEOTIDE SEQUENCE; PROTEIN BINDING;

AGED; AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FIBRINOGEN; HUMANS; LEUCINE; MALE; PLATELET ACTIVATION; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; PROLINE; PROTEIN BINDING; PROTEIN SUBUNITS; THROMBASTHENIA; VARIATION (GENETICS);

EID: 0036116224     PISSN: 09537104     EISSN: None     Source Type: Journal    
DOI: 10.1080/09537100220122466     Document Type: Article

References (35)

1. Platelets
2. Inherited abnormalities of the platelet membrane: Glanzmann thrombasthenia, Bernard-Soulier syndrome, and other disorders
3. The human platelet αIIb gene is not closely linked to its integrin partner β3
4. Processing and assembly of the integrin, glycoprotein IIb-IIIa, in HEL cells
5. The molecular genetics of Glanzmann's thrombasthenia
6. Inherited abnormalities of platelets
7. Glanzmann's thrombasthenia: The spectrum of clinical disease
8. Platelet glycoprotein IIb/IIIa receptors and Glanzmann thrombasthenia
9. An inherited bleeding disorder linked to a defective interaction between ADP and its receptor on platelets. Its influence on glycoprotein IIb-IIIa complex function
10. Expression of markers of platelet activation and the interpatient variation in response to abciximab
11. 542->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann thrombasthenia
12. A monoclonal antibody against the platelet fibrinogen receptor contains a sequence that mimics a receptor recognition domain in fibrinogen
13. The distribution of ligand-occupied αIIbβ3 in resting and activated human platelets determined by expression of a novel class of ligand-induced binding site (LIBS) recognized by monoclonal antibody AP-6
14. Endogenous platelet fibrinogen: Its modulation after surface expression is related to size-selective access to and conformational changes to the bound fibrinogen
15. A molecular model of RGD ligands. Antibody D Gene segments that direct specificity for the integrin αIIbβ3
16. The exchange of Arg-Gly-Asp (RGD) and Arg-Tyr-Asp (RYD) binding sequences in a recombinant murine Fab fragment specific for the integrin αIIbβ3 does not alter integrin recognition
17. Thrombin induces a rapid redistribution of GPIb-IX complexes within the membrane systems of activated human platelets
18. Ultrastructural analysis of the distribution of the vitronectin receptor (αvβ3) in human platelets and megakaryocytes reveals an intracellular pool and labelling of the α-granule membrane
19. R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin αIIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome
20. A naturally occurring point mutation in the β3 integrin MIDAS-like domain affects differently αvβ3 and αIIbβ3 receptor function
21. Pharmacodynamic profile of short-term abciximab treatment demonstrates prolonged platelet inhibition with gradual recovery from GPIIb-IIIa receptor blockade
22. 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation
23. A spontaneous mutation of integrin αIIbβ3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site
24. 214Trp mutation
25. Activation of the fibrinogen binding site on platelets isolated from a patient with the Strasbourg I variant of Glanzmann's thrombasthenia
26. 3) Arg214 by Trp
27. Multiple discontinuous ligand-mimetic antibody binding sites define a ligand binding pocket in integrin αIIbβ3
28. A structure prediction for the ligand binding region of the integrin β subunit: Evidence for the presence of a von Willebrand factor A domain
29. Ligand binding to integrin αIIbβ3 is dependent on a MIDAS-like domain in the β3 subunit
30. Platelet glycoprotein IIb/IIIa receptors and Glanzmann's thrombasthenia
31. Molecular requirements for assembly and function of a minimized human integrin αIIbβ3
32. β3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival
33. Mice lacking β3-integrins are osteosclerotic because of dysfunctional osteoclasts
34. Platelet collagen receptors
35. Platelet-collagen adhesion: Inhibition by a monoclonal antibody that binds glycoprotein IIb