Influence of PROS1 gene mutations affecting protein S amino-acid 275 on plasma free protein S measurement [4]

Thrombosis and Haemostasis

Volumn 97, Issue 4, 2007, Pages 678-680

  Gelas, Martine Alhenc ^a   Juin, Fabrice ^b   de Raucourt, Emmanuelle ^c   Gandrille, Sophie ^a   Borgel, Delphine ^a   Aiach, Martine ^a  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^b HÔTEL DIEU   (France)

^c CENTRE HOSPITALIER   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICOAGULANT AGENT; PROTEIN S;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; FEMALE; GENE MUTATION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; LETTER; LUNG EMBOLISM; MALE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DOMAIN; PROTEIN S DEFICIENCY; THROMBOGENESIS; THROMBOPHILIA;

ADOLESCENT; ADULT; AGED; ANTIBODIES, MONOCLONAL; ANTIBODY AFFINITY; ANTIBODY SPECIFICITY; ARTIFACTS; DNA MUTATIONAL ANALYSIS; EPITOPES; HUMANS; MIDDLE AGED; PEDIGREE; POINT MUTATION; PROTEIN S; PROTEIN S DEFICIENCY; REAGENT KITS, DIAGNOSTIC; REPRODUCIBILITY OF RESULTS;

EID: 34247145105     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH06-12-0711     Document Type: Letter

References (16)

1. Gandrille S, Borgel D, Ireland H, et al for the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Protein S deficiency: a database of mutations. Thromb Haemost 1997; 77: 1201-1214.
2. Bertina RM, Ploos Van Amstel A, Van Wijngaarden A, et al. Herleen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460. Blood 1990; 76: 538-548.
3. Espinosa-Parrilla Y, Navarro G, Morell M, et al. Homozygosity for the protein S Herleen allele is associated with type I PS deficiency in a thrombophilic pedigree with multiple risk factors. Thromb Haemost 2000;83:102-106.
4. Giri TK, Yamazaki T, Sala N, et al. Deficient APC-cofactor activity of protein S Herleen in degradation of factor Va Leiden: a possible mechanism of synergism between thrombophilic risk factors. Blood 2000; 96: 523-531.
5. Gandrille S, Borgel D, Eschwege Gufflet V, et al. Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene. Blood 1995; 85: 130-138.
6. Okada H,Yamazaki T, Takagi A, et al. In vitro characterization of missense mutations associated with quantitative protein S deficiency. J Thromb Haemost 2006;4:2003-2009.
7. Villoutreix BO, Dahlbäck B,Borgel D, et al.Three-dimensional model of the SHBG-like region of anticoagulant protein S: new structure-function insights. Proteins 2001;43:203-216.
8. He X, Dahlbäck B. Molecular cloning, expression and functional characterization of rabbit anticoagulant vitamin-K-dependent protein S. Eur J Biochem 1993; 217:857-865.
9. Giri TK, Linse S, Garcia de Frutos P, et al. Structural requirements of anticoagulant protein S for its binding to the complement regulator C4b-bindig protein. J Biol Chem 2002; 17: 15099-15106.
10. Serra J, Sales M, Chitolie A, et al. Multicentre evaluation of IL test free PS. Thromb Haemost 2000; 88:975-983.
11. Borgel D, Reny JL, Fischelis D, et al. Cleaved protein S, total PS, free PS, and activated protein C cofactor activity as risk factors for venous thrombosis. Clin Chem 2003; 49: 575-580.
12. Giri TK, Hillarp A, Hardig Y, et al. A new direct, fast and quantitative enzyme-linked ligand sorbent assay for measurement of free protein S antigen. Thromb Haemost 1998; 79: 767-772.
13. Comp PC, Doray D, Patton D, et al. An abnormal plasma distribution of protein S occurs in functional protein S deficiency. Blood 1986; 67: 504-508.
14. Kyrle PA, Eichinger S. Deep vein thrombosis. Lancet 2005; 365: 1163-1174.
15. Lane DA, Mannucci PM, Bauer KA, et al. Inherited thrombophilia: part 2. Thromb Haemost 1996; 76: 824-834.
16. Goodwin AJ, Rosendaal FR, Kottke-Marchant K, et al. A review of the technical, diagnostic, and epidemiological considerations for protein S assays. Arch Pathol Lab Med 2002; 126: 1349-1366.