Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders

International Journal of Molecular Sciences
Giovanni Luca Tiscia, Maurizio Margaglione

Abstract

Congenital fibrinogen disorders can be quantitative (afibrinogenemia, hypofibrinogenemia) or functional (dysfibrinognemia). To date, several genetic variants have been identified in individuals with fibrinogen disorders. The complexity of the fibrinogen molecules, formed by three non-identical chains and with a trinodal organization, renders the identification of molecular causes and of clinical and biochemical phenotypes very challenging. However, the acknowledgement of the type of molecular defect is crucial for a safer therapy, which is going to improve the clinical management of these patients. In this review, some aspects concerning molecular and clinical findings available on congenital fibrinogen disorders will be discussed.

References

May 1, 1976·Thrombosis Research·B BlombäckD Hogg
Apr 15, 1992·Proceedings of the National Academy of Sciences of the United States of America·J KoopmanS T Lord
Apr 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·J A KantG R Crabtree
Jan 1, 1984·Annual Review of Biochemistry·R F Doolittle
Jul 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·J A KantG R Crabtree
Jun 27, 1983·Annals of the New York Academy of Sciences·A HenschenC Southan
Apr 1, 1996·British Journal of Haematology·H J RidgwayP M George
Nov 22, 1996·The Journal of Biological Chemistry·J Z Zhang, C Redman
Jan 23, 1999·The Journal of Clinical Investigation·M Neerman-ArbezM A Morris
Sep 13, 2001·Clinical Genetics·A Bittles
Dec 21, 2002·British Journal of Haematology·Kumiko WatanabeNaotaka Hamasaki
Jul 14, 2005·Haemophilia : the Official Journal of the World Federation of Hemophilia·A H James
Oct 1, 2005·Human Molecular Genetics·Dung VuMarguerite Neerman-Arbez
Oct 19, 2005·Clinica Chimica Acta; International Journal of Clinical Chemistry·Nobuo OkumuraTatsutoshi Nakahata
May 3, 2006·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Rosa SantacroceMaurizio Margaglione
Jul 19, 2006·British Journal of Haematology·Veronica H FloodDavid H Farrell
Nov 4, 2006·Blood·Glenys A TennentMark B Pepys
Dec 21, 2006·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Eduardo Angles-CanoPhilippe de Mazancourt
Nov 6, 2007·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Dennis K GalanakisJohn W Weisel
Jun 20, 2008·Haemophilia : the Official Journal of the World Federation of Hemophilia·M Hill, G Dolan
Oct 28, 2008·American Journal of Hematology·Madeleine VerhovsekCatherine P M Hayward
Jul 6, 2010·Transfusion·Benoît PolackMichel Hanss
Jun 27, 2012·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Yordanka TirefortMarguerite Neerman-Arbez
Nov 9, 2012·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Javier MunozPhilip Kuriakose
Jan 12, 2013·Blood·John W Weisel, Rustem I Litvinov

❮ Previous
Next ❯

Citations

Nov 7, 2019·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Luiza A VirmondEduardo Perrone
Jan 16, 2020·Biology·Richard A PhillipsSigrun Lange
Mar 28, 2020·Clinical Drug Investigation·Ignacio Colin-BracamontesLidia Hernández-Salgado
Aug 25, 2019·Expert Review of Proteomics·Jessica Chapman, Ahmet Dogan
Apr 29, 2020·Journal of Pediatric Hematology/oncology·Emily HsiehYoungNa Lee-Kim
Mar 3, 2020·Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics·Bergljót MagnadóttirSigrun Lange
May 22, 2021·Pediatric Hematology and Oncology·Surekha TonyMohamed Elshinawy
Jul 15, 2021·Seminars in Thrombosis and Hemostasis·Mustafa Vakur BorSøren Risom Kristensen
Aug 8, 2021·Acta Biomaterialia·Natalia OnishchenkoElena Vodovozova
Jun 9, 2021·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Runguang GaoXiong Wang

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.