Genetic and phenotypic variability between families with hereditary protein S deficiency

Thrombosis and Haemostasis

Volumn 87, Issue 2, 2002, Pages 258-265

  Rezende, Suely M ^a   Lane, David A ^a   Zöller, Bengt ^a   Mille Baker, Blandine ^a   Laffan, Mike ^a   Dahlbäck, Björn ^a   Simmonds, Rachel E ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

Protein S; Thrombophilia; Venous thrombosis

Indexed keywords

ANTIGEN; DNA; PROTEIN S;

ANIMAL CELL; ANTIGEN EXPRESSION; ARTICLE; CARDIOVASCULAR RISK; CELL LABELING; CELL STRAIN COS1; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; CULTURE MEDIUM; DISEASE CLASSIFICATION; DISEASE SEVERITY; FAMILIAL DISEASE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; KIDNEY CELL CULTURE; MISSENSE MUTATION; MONKEY; MUTANT; NONHUMAN; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DEGRADATION; PROTEIN S DEFICIENCY; PROTEIN SECRETION; PROTEIN VARIANT; SITE DIRECTED MUTAGENESIS; STOP CODON; VEIN THROMBOSIS; WILD TYPE;

EID: 0036166536     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1612982     Document Type: Article

References (42)

1. A comparison of human prothrombin, factor IX (Christmas factor), factor X (Stuart factor), and protein S
2. Inactivation of factor VIII by activated protein C and protein S
3. Two genes homologous with human protein S cDNA are located on chromosome 3
4. Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization
5. Intron-exon organization of the active human protein S gene PS alpha and its pseudogene PS beta: Duplication and silencing during primate evolution
6. Organization of the human protein S genes
7. Inherited thrombophilia: Part 2
8. Inherited thrombophilia: Part 1
9. High molecular weight complex in human plasma between vitamin K-dependent protein S and complement component C4b-binding protein
10. Visualization of human C4b-binding protein and its complexes with vitamin K-dependent protein S and complement protein C4b
11. Novel subunit in C4b-binding protein required for protein S binding
12. Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease
13. Genetic and phenotypic analysis of a large (122-member) protein S-deficient kindred provides an explanation for the familial coexistence of type I and type III plasma phenotypes
14. Protein S deficiency: A database of mutations - Summary of the first update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
15. Detection and characterization of seven novel protein S (PROS) gene lesions: Evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy
16. Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency
17. A hitherto unknown splice site defect in the protein S gene (PROS1): The mutation results in allelic exclusion and causes type I and type III protein S deficiency
18. Determination of plasma protein S - The protein cofactor of activated protein C
19. Functional and immunologic protein S levels are decreased during pregnancy
20. Changes in the plasma levels of vitamin K-dependent proteins C and S and of C4b-binding protein during pregnancy and oral contraception
21. Oral contraceptives and gender affect protein S status
22. Low total protein S antigen but high protein S activity due to decreased C4b-binding protein in neonates
23. Age and gender dependence of total protein S antigen in the normal adult population
24. Differential regulation of alpha and beta chains of C4b-binding protein during acute-phase response resulting in stable plasma levels of free anticoagulant protein S
25. Genetic modulation of plasma protein S levels by two frequent dimorphisms in the PROS1 gene
26. Protein S secretion differences of missense mutants account for phenotypic heterogeneity
27. Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein S Study Group
28. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes
29. Vectors used for expression in mammalian cells
30. Protein S deficiency: A database of mutations - Summary of the first update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
31. Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I
32. Protein S deficiency type I: Identification of point mutations in 9 of 10 families
33. A frequent mutation in the protein S gene results in cryptic splicing
34. Homozygous protein S deficiency due to a one base pair deletion that leads to a stop codon in exon III of the protein S gene
35. Five novel mutations of the protein S active gene (PROS 1) in 8 Norman families
36. Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency
37. Molecular basis for protein S hereditary deficiency: Genetic defects observed in 118 patients with type I and type IIa deficiencies
38. Identification of eight point mutations in protein S deficiency type I-analysis of 15 pedigrees
39. A perfect message: RNA surveillance and nonsense-mediated decay
40. Clarification of the risk for venous thrombosis associated with hereditary protein S deficiency by investigation of a large kindred with a characterized gene defect
41. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: A study of 150 families
42. Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S