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Literature DB >> 18433462

Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations.

M J Heeb, S Gandrille, J A Fernandez, J H Griffin, P F Fedullo.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2008 PMID： 18433462 PMCID： PMC2632602 DOI： 10.1111/j.1538-7836.2008.02994.x

Source DB: PubMed Journal: J Thromb Haemost ISSN： 1538-7836 Impact factor: 5.824

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14 in total

1. Direct anticoagulant activity of protein S-C4b binding protein complex in Heerlen heterozygotes and normals.

Authors: M J Heeb; R R Koenen; J A Fernández; T M Hackeng
Journal: J Thromb Haemost Date: 2004-10 Impact factor: 5.824

2. The constitutive expression of anticoagulant protein S is regulated through multiple binding sites for Sp1 and Sp3 transcription factors in the protein S gene promoter.

Authors: Cornelia J F de Wolf; Rosemiek M J Cupers; Rogier M Bertina; Hans L Vos
Journal: J Biol Chem Date: 2006-05-03 Impact factor: 5.157

3. Neonatal purpura fulminans associated with homozygous protein S deficiency.

Authors: C Mahasandana; V Suvatte; R A Marlar; M J Manco-Johnson; L J Jacobson; W E Hathaway
Journal: Lancet Date: 1990-01-06 Impact factor: 79.321

4. Severe protein S deficiency associated with heterozygous factor V Leiden mutation in a child with purpura fulminans.

Authors: Yasar Dogan; Denizmen Aygun; Yelda Yilmaz; Guler Kanra; Gulten Secmeer; Nesrin Besbas; Aytemiz Gurgey
Journal: Pediatr Hematol Oncol Date: 2003 Jan-Feb Impact factor: 1.969

5. Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa deficiencies. The French Network on Molecular Abnormalities Responsible for Protein C and Protein S Deficiencies.

Authors: D Borgel; J Duchemin; M Alhenc-Gelas; C Matheron; M Aiach; S Gandrille
Journal: J Lab Clin Med Date: 1996-08

6. Recurrent venous thromboembolism in patients with a partial deficiency of protein S.

Authors: P C Comp; C T Esmon
Journal: N Engl J Med Date: 1984-12-13 Impact factor: 91.245

7. 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.

Authors: E Gómez; M R Ledford; C H Pegelow; P H Reitsma; R M Bertina
Journal: Thromb Haemost Date: 1994-06 Impact factor: 5.249

Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations.

1. Direct anticoagulant activity of protein S-C4b binding protein complex in Heerlen heterozygotes and normals.

2. The constitutive expression of anticoagulant protein S is regulated through multiple binding sites for Sp1 and Sp3 transcription factors in the protein S gene promoter.

3. Neonatal purpura fulminans associated with homozygous protein S deficiency.

4. Severe protein S deficiency associated with heterozygous factor V Leiden mutation in a child with purpura fulminans.

5. Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa deficiencies. The French Network on Molecular Abnormalities Responsible for Protein C and Protein S Deficiencies.

6. Recurrent venous thromboembolism in patients with a partial deficiency of protein S.

7. 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.

8. Plasma protein S deficiency in familial thrombotic disease.

9. [Hemostasis parameters in 55 patients with venous and/or arterial thromboembolisms].

10. Activated protein C resistance: molecular mechanisms based on studies using purified Gln506-factor V.

Review 1. The role of TAM family receptors and ligands in the nervous system: From development to pathobiology.

2. Generation and phenotypic analysis of protein S-deficient mice.

3. Role of the PROS1 gene in thrombosis: lessons and controversies.