Description of 10 new mutations in platelet glycoprotein IIb (αIIb) and glycoprotein IIIa (β3) genes

Platelets

Volumn 12, Issue 8, 2001, Pages 486-495

  Vinciguerra, C ^a   Bordet, J C ^a   Beaune, G ^a   Grenier, C ^a   Dechavanne, M ^a   Negrier C ^a  

^a EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN RECEPTOR; GLYCOPROTEIN IIB; GLYCOPROTEIN IIIA;

ARTICLE; CLINICAL ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA FLANKING REGION; GENE INSERTION; GENE MUTATION; GLANZMANN DISEASE; HUMAN; INTRON; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECEPTOR INTRINSIC ACTIVITY; RNA SPLICING; SEQUENCE ANALYSIS;

ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; HUMANS; MUTATION; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; THROMBASTHENIA;

INSERTION SEQUENCES;

EID: 0035662468     PISSN: 09537104     EISSN: None     Source Type: Journal    
DOI: 10.1080/095371001317126383     Document Type: Article

References (42)

1. Localization of an Arg-Gly-Asp recognition site within an integrin adhesion receptor
2. Evidence that arginyl-glycyl-aspartate peptides and fibrinogen γ chain peptides share a common binding site on platelets
3. Congenital bleeding disorders with long bleeding time and normal count
4. Glanzmann's thrombasthenia: The spectrum of clinical disease
5. An abnormal platelet glycoprotein pattern in three cases of Glanzmann's thrombasthenia
6. Platelet glycoprotein IIb, chromosomal localization and tissue expression
7. Cloning of glycoprotein IIIa from human erythroleukemia cells and localization of the gene to chromosome 17
8. Organization of the gene for platelet glycoprotein IIb
9. The genomic organization of platelet glycoprotein IIIa
10. Isolation and characterization of a TATA-less promoter for the human β3 integrin gene
11. Hematologically important mutations: Glanzmann's thrombasthenia
12. A nonsense mutation in the GPIIb heavy chain (Ser 870 to stop) impairs platelet GPIIb-IIIa expression
13. Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis
14. A simple method to attach a universal 50-bp GC-clamp to PCR fragments used for mutation analysis by DGGE
15. Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping
16. DNA sequencing with chain-termination inhibitors
17. Molecular study of Glanzmann's thrombasthenia in 3 patients issued from two different families
18. Illegitimate transcription: Its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann's thrombasthenia
19. A2, are associated with a leucine33/proline33 amino acid polymorphism in membrane glycoprotein IIIa and are distinguishable by DNA typing
20. Polymorphism of human platelet membrane glycoprotein IIb associated with the BaK(a)/BaK(b) alloantigen system
21. Aminoacid 489 is encoded by a mutational 'hot spot' on the β3 integrin chain: The CA/TU human platelet alloantigen system
22. The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: Identification of a new mutation on the αIIb gene
23. Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel asian mutations in the CFTR gene
24. A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms
25. Mutations and polymorphisms in the factor VIII gene discovered by denaturing gradient gel electrophoresis
26. Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis
27. Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa
28. Detection by PCR and Hph I restriction analysis of a splice site mutation at the 5′ end of intron 15 of the platelet GPIIb (αIIb integrin) gene responsible for Glanzmann's thrombasthenia type I in gypsies originating from the Strasbourg area
29. Glanzmann's thrombasthenia secondary to a Gly 273 to Asp mutation adjacent to the first calcium-binding domain on platelet glycoprotein IIb
30. A single amino acid substitution flanking the fourth calcium-binding domain of αIIb prevents maturation of the αIIbβ3 integrin complex
31. Glanzmann's thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domain of GPIIb
32. Inherited mutations within the calcium-binding sites of the integrin alpha IIb subunit (platelet glycoprotein IIb). Effects of the amino acid side chain and the amino acid position on cation binding
33. The molecular genetic basis of Glanzmann's thrombasthenia in the Iraqi-Jewish and Arab populations in Israel
34. Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: Disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes
35. Human platelets and megakaryocytes contain alternately spliced glycoprotein IIb mRNAs
36. Effect of deletion of glycoprotein IIb exon 28 on the expression of the platelet glycoprotein IIb-IIIa complex
37. An exon 28 mutation resulting in alternative splicing of the glycoprotein IIb transcript and Glanzmann's thrombasthenia
38. Modulation of the affinity of integrin αIIbβ3 (GPIIb-IIIa) by the cytoplasmic domain of αIIb
39. A deletion in the alpha subunit locks platelet integrin alpha IIb beta 3 into a high affinity state
40. Effect of cytoplasmic domain mutations on the agonist-stimulated ligand binding activity of the platelet integrin αIIbβ3
41. R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome
42. Minimum α chain cytoplasmic tail sequence needed to support integrin-mediated adhesion