Clinical Consequences and Molecular Bases of Low Fibrinogen Levels
The study of inherited fibrinogen disorders, characterized by extensive allelic heterogeneity, allows the association of defined mutations with specific defects providing significant insight into the location of functionally important sites in fibrinogen and fibrin. Since the identification of the f...
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doaj-3cbb5d9825f4418fa4bba5787b7c9f432020-11-24T21:51:47ZengMDPI AGInternational Journal of Molecular Sciences1422-00672018-01-0119119210.3390/ijms19010192ijms19010192Clinical Consequences and Molecular Bases of Low Fibrinogen LevelsMarguerite Neerman-Arbez0Alessandro Casini1Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, 1211 Geneva, SwitzerlandDivision of Angiology and Hemostasis, Faculty of Medicine, Geneva University Hospitals, 1211 Geneva, SwitzerlandThe study of inherited fibrinogen disorders, characterized by extensive allelic heterogeneity, allows the association of defined mutations with specific defects providing significant insight into the location of functionally important sites in fibrinogen and fibrin. Since the identification of the first causative mutation for congenital afibrinogenemia, studies have elucidated the underlying molecular pathophysiology of numerous causative mutations leading to fibrinogen deficiency, developed cell-based and animal models to study human fibrinogen disorders, and further explored the clinical consequences of absent, low, or dysfunctional fibrinogen. Since qualitative disorders are addressed by another review in this special issue, this review will focus on quantitative disorders and will discuss their diagnosis, clinical features, molecular bases, and introduce new models to study the phenotypic consequences of fibrinogen deficiency.http://www.mdpi.com/1422-0067/19/1/192fibrinogengeneticsbleedingthrombosiswomen’s healthzebrafish |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Marguerite Neerman-Arbez Alessandro Casini |
spellingShingle |
Marguerite Neerman-Arbez Alessandro Casini Clinical Consequences and Molecular Bases of Low Fibrinogen Levels International Journal of Molecular Sciences fibrinogen genetics bleeding thrombosis women’s health zebrafish |
author_facet |
Marguerite Neerman-Arbez Alessandro Casini |
author_sort |
Marguerite Neerman-Arbez |
title |
Clinical Consequences and Molecular Bases of Low Fibrinogen Levels |
title_short |
Clinical Consequences and Molecular Bases of Low Fibrinogen Levels |
title_full |
Clinical Consequences and Molecular Bases of Low Fibrinogen Levels |
title_fullStr |
Clinical Consequences and Molecular Bases of Low Fibrinogen Levels |
title_full_unstemmed |
Clinical Consequences and Molecular Bases of Low Fibrinogen Levels |
title_sort |
clinical consequences and molecular bases of low fibrinogen levels |
publisher |
MDPI AG |
series |
International Journal of Molecular Sciences |
issn |
1422-0067 |
publishDate |
2018-01-01 |
description |
The study of inherited fibrinogen disorders, characterized by extensive allelic heterogeneity, allows the association of defined mutations with specific defects providing significant insight into the location of functionally important sites in fibrinogen and fibrin. Since the identification of the first causative mutation for congenital afibrinogenemia, studies have elucidated the underlying molecular pathophysiology of numerous causative mutations leading to fibrinogen deficiency, developed cell-based and animal models to study human fibrinogen disorders, and further explored the clinical consequences of absent, low, or dysfunctional fibrinogen. Since qualitative disorders are addressed by another review in this special issue, this review will focus on quantitative disorders and will discuss their diagnosis, clinical features, molecular bases, and introduce new models to study the phenotypic consequences of fibrinogen deficiency. |
topic |
fibrinogen genetics bleeding thrombosis women’s health zebrafish |
url |
http://www.mdpi.com/1422-0067/19/1/192 |
work_keys_str_mv |
AT margueriteneermanarbez clinicalconsequencesandmolecularbasesoflowfibrinogenlevels AT alessandrocasini clinicalconsequencesandmolecularbasesoflowfibrinogenlevels |
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1725878575607840768 |