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Literature DB >> 8594568

Protein C deficiency: summary of the 1995 database update.

Abstract

The coagulation cascade is controlled by several anticoagulant safeguards that avoid excessive clot formation. Disorders of these anticoagulant mechanisms are an important health problem, as they lead to increased risk of thromboembolism. Protein C deficiency is probably the most extensively studied abnormality in natural anticoagulants. Under the auspices of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the International Society of Thrombosis and Haemostasis a working party of researchers maintains a database of mutations that have been characterized in the protein C gene. The 1995 update of this database comprises 331 entries that describe 160 unique mutational events. Here essential features of the database are reviewed.

Entities: Disease

Mesh：

Substances：
Protein C

Year: 1996 PMID： 8594568 PMCID： PMC145584 DOI： 10.1093/nar/24.1.157

Source DB: PubMed Journal: Nucleic Acids Res ISSN： 0305-1048 Impact factor: 16.971

16 in total

1. The CpG dinucleotide and human genetic disease.

Authors: D N Cooper; H Youssoufian
Journal: Hum Genet Date: 1988-02 Impact factor: 4.132

2. The frequency of type I heterozygous protein S and protein C deficiency in 141 unrelated young patients with venous thrombosis.

Authors: C L Gladson; I Scharrer; V Hach; K H Beck; J H Griffin
Journal: Thromb Haemost Date: 1988-02-25 Impact factor: 5.249

Review 3. Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH.

Authors: P H Reitsma; F Bernardi; R G Doig; S Gandrille; J S Greengard; H Ireland; M Krawczak; B Lind; G L Long; S R Poort
Journal: Thromb Haemost Date: 1995-05 Impact factor: 5.249

Review 4. Protein C deficiency: a database of mutations. For the Protein C & S Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

Authors: P H Reitsma; S R Poort; F Bernardi; S Gandrille; G L Long; N Sala; D N Cooper
Journal: Thromb Haemost Date: 1993-01-11 Impact factor: 5.249

5. A molecular model of the serine protease domain of activated protein C: application to the study of missense mutations causing protein C deficiency.

Authors: A I Wacey; S Pemberton; D N Cooper; V V Kakkar; E G Tuddenham
Journal: Br J Haematol Date: 1993-06 Impact factor: 6.998

Review 6. Molecular events that control the protein C anticoagulant pathway.

Authors: C T Esmon
Journal: Thromb Haemost Date: 1993-07-01 Impact factor: 5.249

7. Absence of thrombosis in subjects with heterozygous protein C deficiency.

Authors: J Miletich; L Sherman; G Broze
Journal: N Engl J Med Date: 1987-10-15 Impact factor: 91.245

8. Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect.

Authors: C F Allaart; S R Poort; F R Rosendaal; P H Reitsma; R M Bertina; E Briët
Journal: Lancet Date: 1993-01-16 Impact factor: 79.321

9. The nucleotide sequence of the gene for human protein C.

Authors: D C Foster; S Yoshitake; E W Davie
Journal: Proc Natl Acad Sci U S A Date: 1985-07 Impact factor: 11.205

10. The clinical spectrum of heterozygous protein C deficiency in a large New England kindred.

Authors: E G Bovill; K A Bauer; J D Dickerman; P Callas; B West
Journal: Blood Date: 1989-02-15 Impact factor: 22.113

6 in total

1. Whole-exome sequencing in evaluation of patients with venous thromboembolism.

Authors: Eun-Ju Lee; Daniel J Dykas; Andrew D Leavitt; Rodney M Camire; Eduard Ebberink; Pablo García de Frutos; Kavitha Gnanasambandan; Sean X Gu; James A Huntington; Steven R Lentz; Koen Mertens; Christopher R Parish; Alireza R Rezaie; Peter P Sayeski; Caroline Cromwell; Noffar Bar; Stephanie Halene; Natalia Neparidze; Terri L Parker; Adrienne J Burns; Anne Dumont; Xiaopan Yao; Cassius Iyad Ochoa Chaar; Jean M Connors; Allen E Bale; Alfred Ian Lee
Journal: Blood Adv Date: 2017-06-29