A novel fibrinogen Bβ chain frameshift mutation in a patient with severe congenital hypofibrinogenaemia

No abstract is available for this paper.

• Publication year

  2006

• Venue

  Thrombosis and Haemostasis

• Publication date

  2006-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1160/TH06-01-0020PMID 16732370
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Unveiling the new face of fibronectin in thrombosis and hemostasis

  2006cited by this paper
• Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.

  2005cited by this paper
• Vitronectin stabilizes thrombi and vessel occlusion but plays a dual role in platelet aggregation

  2005cited by this paper
• A novel nonsense mutation in the FGA gene in a Chinese family with congenital afibrinogenaemia

  2005cited by this paper
• The molecular mechanisms of congenital hypofibrinogenaemia

  2004cited by this paper
• Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family.

  2003cited by this paper
• Platelets in hemostasis and thrombosis: role of integrins and their ligands.

  2003cited by this paper
• Control of thrombus embolization and fibronectin internalization by integrin alpha IIb beta 3 engagement of the fibrinogen gamma chain.

  2003cited by this paper
• Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion.

  2003cited by this paper
• Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene.

  2003cited by this paper
• Control of thrombus embolization and fibronectin internalization by integrin αIIbβ3 engagement of the fibrinogen γ chain

  2003cited by this paper
• Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites.

  2002cited by this paper
• Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia.

  2002cited by this paper
• Identification of B @ Chain Domains Involved in Human Fibrinogen Assembly *

  2001cited by this paper
• Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes

  2001cited by this paper
• Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.

  2000cited by this paper
• Persistence of platelet thrombus formation in arterioles of mice lacking both von Willebrand factor and fibrinogen.

  2000cited by this paper
• Role of the beta-strand insert in the central domain of the fibrinogen gamma-module.

  2000cited by this paper
• Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival.

  1999cited by this paper
• Crystal structures of fragment D from human fibrinogen and its crosslinked counterpart from fibrin

  1997cited by this paper
• Identification of B beta chain domains involved in human fibrinogen assembly.

  1992cited by this paper
• Glanzmann's thrombasthenia: the spectrum of clinical disease.

  1990cited by this paper
• von Willebrand factor interaction with the glycoprotein IIb/IIa complex. Its role in platelet function as demonstrated in patients with congenital afibrinogenemia.

  1986influential reference

• Conformation-Specific Blockade of αIIbβ3 by a Non-RGD Peptide to Inhibit Platelet Activation without Causing Significant Bleeding and Thrombocytopenia

  2020cites this paper
• Crosstalk Between Platelets and Microbial Pathogens

  2020cites this paper
• Platelet physiology and immunology: pathogenesis and treatment of classical and non-classical fetal and neonatal alloimmune thrombocytopenia

  2019cites this paper
• Altered plasma proteins released from platelets and endothelial cells are associated with human patent ductus arteriosus

  2018cites this paper
• Cancer and platelet crosstalk: opportunities and challenges for aspirin and other antiplatelet agents.

  2018cites this paper
• Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia

  2017cites this paper
• Alpha-Dystroglycan Plays Functional Roles in Platelet Aggregation and Thrombus Growth

  2017cites this paper
• Management of congenital quantitative fibrinogen disorders: a Delphi consensus

  2016cites this paper
• Platelets are versatile cells: New discoveries in hemostasis, thrombosis, immune responses, tumor metastasis and beyond

  2016cites this paper
• Fibronectin maintains the balance between hemostasis and thrombosis

  2016cites this paper
• Extracellular matrix proteins in the regulation of thrombus formation

  2016cites this paper
• Plasma Fibronectin in Hemostasis and Thrombosis: Evidence for fibrin-dependent and independent pathways

  2015cites this paper
• Platelets in hemostasis and thrombosis: Novel mechanisms of fibrinogen-independent platelet aggregation and fibronectin-mediated protein wave of hemostasis

  2015cites this paper
• Platelets and platelet alloantigens: Lessons from human patients and animal models of fetal and neonatal alloimmune thrombocytopenia

  2015cites this paper
• FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations.

  2014cites this paper
• Plasma fibronectin supports hemostasis and regulates thrombosis.

  2014cites this paper
• Anfibatide, a novel GPIb complex antagonist, inhibits platelet adhesion and thrombus formation in vitro and in vivo in murine models of thrombosis

  2013cites this paper
• cell-surface P-selectin expression Fibrinogen is required for maintenance of platelet intracellular and

  2013cites this paper
• A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia.

  2013cites this paper
• All-trans-Retinoic Acid Ameliorated High Fat Diet-Induced Atherosclerosis in Rabbits by Inhibiting Platelet Activation and Inflammation

  2012cites this paper
• Dysregulated coagulation associated with hypofibrinogenaemia and plasma hypercoagulability: Implications for identifying coagulopathic mechanisms in humans

  2012cites this paper
• Fibrinogen is required for maintenance of platelet intracellular and cell-surface P-selectin expression.

  2009cites this paper
• Fibrinogen controls human platelet fibronectin internalization and cell‐surface retention 1

  2007cites this paper