A Database for Human Fibrinogen Variants

Hanss, Michel; Biot, Fabrice

doi:10.1111/j.1749-6632.2001.tb03495.x

Cited by 170 publications

(196 citation statements)

References 4 publications

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“…Moreover, there are a number of cases of hereditary dysfibrinogenemia in which the ␣C regions are partially or fully deleted (see the GEHT (Groupe d'Etude sur l'Hémostase et la Thrombose) Web site) (47). Interestingly, in selected dysfibrinogenemias, truncations of the ␣C regions have been associated with either thrombosis or bleeding, and a few have both bleeding and thrombotic tendencies (47,48). The mechanisms by which deletions of the ␣C regions increase the risk for thrombosis or bleeding are unknown.…”

Section: Discussionmentioning

confidence: 99%

“…A substantial amount of the molecules without the ␣C regions is produced during thrombolytic therapy (46). Moreover, there are a number of cases of hereditary dysfibrinogenemia in which the ␣C regions are partially or fully deleted (see the GEHT (Groupe d'Etude sur l'Hémostase et la Thrombose) Web site) (47). Interestingly, in selected dysfibrinogenemias, truncations of the ␣C regions have been associated with either thrombosis or bleeding, and a few have both bleeding and thrombotic tendencies (47,48).…”

Section: Discussionmentioning

confidence: 99%

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The Assembly of Nonadhesive Fibrinogen Matrices Depends on the αC Regions of the Fibrinogen Molecule

Yermolenko

Gorkun

Fuhrmann

et al. 2012

Journal of Biological Chemistry

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Background: Surface-induced aggregation of fibrinogen results in the assembly of an extensible multilayered matrix, which prevents integrin-mediated cell adhesion. Results: Without the ␣C regions, the fibrinogen molecules assemble a defective, poorly extensible matrix supporting sustained cell adhesion. Conclusion:The assembly of nonadhesive fibrinogen multilayer requires the ␣C regions of the molecule. Significance: The molecular mechanism for the assembly of the fibrinogen multilayer is identified.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

The Assembly of Nonadhesive Fibrinogen Matrices Depends on the αC Regions of the Fibrinogen Molecule

Yermolenko

Gorkun

Fuhrmann

et al. 2012

Journal of Biological Chemistry

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“…A database is available on the Groupe d'Etudes sur l'Hemostase et la Thrombose website (GEHT: Study Group on Hemostasis and Thrombosis; www.geht.org/databaseang/fibrinogen) [Hanss and Biot, 2001], which lists all fibrinogen variants identified to date in patients with dys-, hypo-, and afibrinogenemia. For many variants, e.g., data submitted online and compiled from abstracts, however, no experimental evidence is provided and the causative nature of the mutation is therefore not confirmed.…”

Section: Nomenclaturementioning

confidence: 99%

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations

Neerman-Arbez

Moerloose

2007

Hum. Mutat.

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Communicated by Arupa GangulyFibrinogen is synthesized in hepatocytes in the form of a hexamer composed of two sets of three polypeptides (Aa, Bb, and c). Each polypeptide is encoded by a distinct gene, FGA, FGB, and FGG, all three clustered in a region of 50 kb on 4q31. Congenital afibrinogenemia is characterized by the complete absence of fibrinogen, the precursor of the major protein constituent of the blood clot, fibrin. Although the disease was first described in 1920, the genetic defect responsible for this disorder long remained unknown. We identified the gene and the first causative mutations for this disease in a nonconsanguineous Swiss family in 1999. Since this first report, 61 additional mutations, the majority in FGA, have been identified in patients with afibrinogenemia (in homozygosity or in compound heterozygosity) or in heterozygosity in hypofibrinogenemia, since many of these patients are in fact asymptomatic carriers of afibrinogenemia mutations. Mutations in the fibrinogen genes may lead to deficiency of fibrinogen by several mechanisms: these can act at the DNA level, at the RNA level by affecting mRNA splicing or stability, or at the protein level by affecting protein synthesis, assembly, or secretion. The expression of selected mutations has shown that mechanisms acting at all three levels play a role in the molecular basis of this disease. We report here the identification of 10 novel mutations, of which eight are localized in FGA, thus increasing the total number of causative mutations identified to 72 and confirming the relative importance of FGA in the molecular basis of fibrinogen deficiency. Hum Mutat 28(6), [540][541][542][543][544][545][546][547][548][549][550][551][552][553] 2007. r r 2007 Wiley-Liss, Inc.

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“…12,13 In addition, genetic variants of fibrinogen (dysfibrinogenemias) have been found in patients with thrombosis and prolonged thrombin time. 14,15 Most of these patients have a mutation in the FGA or the FGG gene, though the precise relation between carriership of these mutations and venous thrombosis is poorly documented. 16 We hypothesized that relatively common variations among the fibrinogen genes might exist and might influence the risk for deep venous thrombosis.…”

Section: Introductionmentioning

confidence: 99%

Genetic variation in the fibrinogen gamma gene increases the risk for deep venous thrombosis by reducing plasma fibrinogen γ′ levels

Willige

Visser

Houwing-Duistermaat

et al. 2005

Blood

230

260

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We investigated the association between haplotypes of fibrinogen alpha (FGA), beta (FGB), and gamma (FGG), total fibrinogen levels, fibrinogen ␥ (␥A/␥ plus ␥/␥) levels, and risk for deep venous thrombosis. In a population-based case-control study, the Leiden Thrombophilia Study, we typed 15 haplotype-tagging single nucleotide polymorphisms (htSNPs) in this gene cluster. None of these haplotypes was associated with total fibrinogen levels. In each gene, one haplotype increased the thrombosis risk approximately 2-fold. After adjustment for linkage disequilibrium between the genes, only FGG-H2 homozygosity remained associated with risk (odds ratio [OR], 2.4; 95% confidence interval [95% CI], 1.5-3.9). FGG-H2 was also associated with reduced fibrinogen ␥ levels and reduced ratios of fibrinogen ␥ to total fibrinogen. Multivariate analysis showed that reduced fibrinogen ␥ levels and elevated total fibrinogen levels were both associated with an increased risk for thrombosis, even after adjustment for FGG-H2. A reduced fibrinogen ␥ to total fibrinogen ratio (less than 0.69) also increased the risk (OR, 2.4; 95% CI, 1.7-3.5)

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A Database for Human Fibrinogen Variants

Cited by 170 publications

References 4 publications

The Assembly of Nonadhesive Fibrinogen Matrices Depends on the αC Regions of the Fibrinogen Molecule

The Assembly of Nonadhesive Fibrinogen Matrices Depends on the αC Regions of the Fibrinogen Molecule

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations

Genetic variation in the fibrinogen gamma gene increases the risk for deep venous thrombosis by reducing plasma fibrinogen γ′ levels

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