Venous thrombosis : from genes to clinical medicine : the molecular genetics of an archetypal multigene disorder / D. N. Cooper and M. Krawczak.

Format:

Book

Author/Creator:

Cooper, D. N., author.

Krawczak, Michael, author.

Language:

English

Subjects (All):

Thrombophlebitis.

Physical Description:

1 online resource (369 pages)

Edition:

First edition.

Place of Publication:

Boca Raton, FL : CRC Press, 2020.

Language Note:

English

Summary:

Venous Thrombosis: from genes to clinical medicine, presents our current knowledge of potentially prothrombotic protein at modalities, together with the clear and concise views of the roles these proteins play in haemostasis, and the use of molecular techniques in the analysis and diagnosis of inherited defects.

Contents:

Cover

Half Title

Series

Title

Copyright

Contents

Abbreviation

Preface

Acknowledgements

Foreword

1 Introduction

Venous thrombosis: causes and clinical significance

An introduction to haemostasis

2 Pathological mutations: DNA sequence and protein structure

Introduction

Single base-pair substitutions

Deletions

Other mechanisms of mutation

The study of pathological mutations at the protein level: human factor IX

3 Evolution of the vitamin K-dependent coagulation factors

Reconstruction of mammalian ancestral cDNAs

Evolutionary divergence

Reconstruction of a common ancestor of the vitamin K-dependent coagulation factors

4 Antithrombin III and antithrombin III deficiency

Structure and function of ATIII

The antithrombin III (AT3) gene

ATIII deficiency

5 Protein C and protein C deficiency

Structure and function of protein C

The protein C (PROC) gene

Protein C deficiency

The protein C inhibitor (PCI) gene

6 Protein S and protein S deficiency

Structure, function and physiology

The protein S (PROS) gene

Protein S deficiency

C4bBP and its interactions with protein S

7 Factor V and activated protein C resistance

Properties and role in coagulation

Structure and function of factor V

Molecular genetics of factor V

Factor V deficiency

Factor V variants, APC resistance and thrombotic disease

8 Thrombomodulin and its deficiency state

Physiology, structure and function

The thrombomodulin (THBD) gene

Clinical aspects

9 Plasminogen and its deficiency

The plasminogen (PLG) gene

Plasminogen deficiency

10 Heparin cofactor II

Physiology, structure and function.

The heparin cofactor II (HCF2) gene

HCF2 deficiency

11 Factor XII deficiency

Structure and function

The factor XII (F12) gene

Factor XII deficiency

12 Fibrinogen and the dysfibrinogenaemias causing venous thrombosis

Structure and function of fibrinogen

The fibrinogen (FGA, FGB, FGG) genes

Evolution of the fibrinogen proteins

The molecular genetics of fibrinogen disorders predisposing to venous thrombosis

13 Defects of the fibrinolytic pathway associated with thrombotic disease

Tissue-type plasminogen activator (tPA)

Plasminogen activator inhibitor (PAI-1)

14 Other potential causes of familial thrombotic disease

Prothrombin

Histidine-rich glycoprotein

Factor VII

Hyperhomocysteinaemia

Prekallikrein

Tissue factor and TFPI

Factor VIII

15 The epidemiology of venous thrombosis

General risk factors

Genetic risk factors

Integration of risk factors

Conclusions

References

Appendix: Single base-pair substitutions causing venous thrombosis

Index.

Notes:

Bibliographic Level Mode of Issuance: Monograph

Description based on print version record.

ISBN:

9781040281789

1040281788

9781003580102

1003580106

9781040290842

1040290841

9780203887639

0203887638

OCLC:

1474745789