Genetic Variants in the

Afibrinogenemia / genetics Blood Coagulation Tests Factor XIII / genetics Fibrin / genetics Fibrinogen / genetics Fibrinolysis / genetics Hemorrhage Hemostasis Hemostatics Humans Phenotype Thrombosis / genetics
FGB gene FGG gene beta and gamma nodules fibrinogen mutations associated with thrombosis quantitative fibrinogen disorders

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
29 Jun 2020
Historique:
received: 27 04 2020
revised: 18 06 2020
accepted: 25 06 2020
entrez: 3 7 2020
pubmed: 3 7 2020
medline: 20 2 2021
Statut: epublish

Résumé

Fibrinogen is a hexameric plasmatic glycoprotein composed of pairs of three chains (Aα, Bβ, and γ), which play an essential role in hemostasis. Conversion of fibrinogen to insoluble polymer fibrin gives structural stability, strength, and adhesive surfaces for growing blood clots. Equally important, the exposure of its non-substrate thrombin-binding sites after fibrin clot formation promotes antithrombotic properties. Fibrinogen and fibrin have a major role in multiple biological processes in addition to hemostasis and thrombosis, i.e., fibrinolysis (during which the fibrin clot is broken down), matrix physiology (by interacting with factor XIII, plasminogen, vitronectin, and fibronectin), wound healing, inflammation, infection, cell interaction, angiogenesis, tumour growth, and metastasis. Congenital fibrinogen deficiencies are rare bleeding disorders, characterized by extensive genetic heterogeneity in all the three genes:

Identifiants

DOI: 10.3390/ijms21134616 PMID: 32610551 PMC: PMC7369898
pubmed: 32610551
pii: ijms21134616
doi: 10.3390/ijms21134616
pmc: PMC7369898
pii:
doi:

Substances chimiques

FGB protein, human 0
FGG protein, human 0
Hemostatics 0
Fibrin 9001-31-4
Fibrinogen 9001-32-5
Factor XIII 9013-56-3

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

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Auteurs

Tomas Simurda (T)

National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, 03601 Martin, Slovakia.

Monika Brunclikova (M)

National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, 03601 Martin, Slovakia.

Rosanna Asselta (R)

Department of Biomedical Sciences, Humanitas University, 20090 Pieve Emanuele, Italy.
Humanitas Clinical and Research Center (IRCCS), 20089 Rozzano, Italy.

Sonia Caccia (S)

Department of Biomedical and Clinical Sciences"L. Sacco", Università degli Studi di Milano, 20157 Milan, Italy.

Jana Zolkova (J)

National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, 03601 Martin, Slovakia.

Zuzana Kolkova (Z)

Biomedical Center Martin, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, Martin, 03601 Martin, Slovakia.

Dusan Loderer (D)

Biomedical Center Martin, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, Martin, 03601 Martin, Slovakia.

Ingrid Skornova (I)

National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, 03601 Martin, Slovakia.

Jan Hudecek (J)

National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, 03601 Martin, Slovakia.

Zora Lasabova (Z)

Department of Molecular Biology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, 03601 Martin, Slovakia.

Jan Stasko (J)

National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, 03601 Martin, Slovakia.

Peter Kubisz (P)

National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, 03601 Martin, Slovakia.

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Classifications MeSH

Recherchemedicale.com › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Troubles héréditaires de la coagulation sanguine › Afibrinogénémie › Genetic Variants in the
Recherchemedicale.com › Techniques d'investigation › Techniques de laboratoire clinique › Tests hématologiques › Tests de coagulation sanguine › Genetic Variants in the
Recherchemedicale.com › Facteurs biologiques › Facteurs de la coagulation sanguine › Facteur XIII › Genetic Variants in the
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines du sang › Fibrine › Genetic Variants in the
Recherchemedicale.com › Facteurs biologiques › Facteurs de la coagulation sanguine › Fibrinogène › Genetic Variants in the
Recherchemedicale.com › Phénomènes physiologiques respiratoires et circulatoires › Phénomènes physiogiques du sang › Hémostase › Coagulation sanguine › Fibrinolyse › Genetic Variants in the
Recherchemedicale.com › États, signes et symptômes pathologiques › Processus pathologiques › Hémorragie › Genetic Variants in the
Recherchemedicale.com › Phénomènes physiologiques respiratoires et circulatoires › Phénomènes physiogiques du sang › Hémostase › Genetic Variants in the
Recherchemedicale.com › Actions chimiques et utilisations › Actions pharmacologiques › Utilisations thérapeutiques › Agents hématologiques › Coagulants › Hémostatiques › Genetic Variants in the
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic Variants in the
Recherchemedicale.com › Phénomènes génétiques › Phénotype › Genetic Variants in the
Recherchemedicale.com › Maladies cardiovasculaires › Maladies vasculaires › Embolie et thrombose › Thrombose › Genetic Variants in the