Recommendations for nomenclature on fibrinogen and fibrin

Medved, Leonid; Weisel, John W.

doi:10.1111/j.1538-7836.2008.03242.x

Cited by 119 publications

(114 citation statements)

References 23 publications

(45 reference statements)

Supporting

Mentioning

110

Contrasting

Unclassified

Order By: Relevance

“…Mutations were compared against previously described mutations as reported by Ensembl (http://www.ensembl.org) and Groupe d'Etude sur l'Hemostase et la Thrombose (GEHT) (http://www.geht.org) databases, as well as against known non disease‐causing single nucleotide polymorphisms (SNPs) described in the dbSNP database (http://www.ncbi.nlm.nih.gov). Variants were reported according to guidelines determined by the International Society of Thrombosis and Hemostasis (ISTH) 20. For the novel splice site variant, Human Splicing Finder (http://www.umd.be/HSF/) was used to evaluate the potential effect of the variant.…”

Section: Methodsmentioning

confidence: 99%

Identification and characterization of novel mutations implicated in congenital fibrinogen disorders

Smith

Bornikova

Noetzli

et al. 2018

Research and Practice in Thrombosis and Haemostasis

View full text Add to dashboard Cite

Essentials Fibrinogen Disorders are characterized by variable expressivity.Patients with fibrinogen disorders can present with bleeding, thrombosis, or both.As previously reported, genotype‐phenotype correlations are difficult to establish.Molecular modeling may help to further understand the effects of mutations on the mature fibrinogen protein. IntroductionFibrinogen is a complex molecule comprised of two sets of Aα, Bβ, and γ chains. Fibrinogen deficiencies can lead to the development of bleeding or thromboembolic events. The objective of this study was to perform DNA sequence analysis of patients with clinical fibrinogen abnormalities, and to perform genotype‐phenotype correlations.Materials and Methods DNA from 31 patients was sequenced to evaluate disease‐causing mutations in the three fibrinogen genes: FGA,FGB, and FGG. Clinical data were extracted from medical records or from consultation with referring hematologists. Fibrinogen antigen and functional (Clauss method) assays, as well as reptilase time (RT) and thrombin time (TT) were obtained for each patient. Molecular modeling was used to simulate the functional impact of specific missense variants on the overall protein structure.ResultsSeventeen mutations, including six novel mutations, were identified in the three fibrinogen genes. There was little correlation between genotype and phenotype. Molecular modeling predicted a substantial conformational change for a novel variant, FGG p.Ala289Asp, leading to a more rigid molecule in a region critical for polymerization and alignment of the fibrin monomers. This mutation is associated with both bleeding and clotting in the two affected individuals.ConclusionsRobust genotype‐phenotype correlations are difficult to establish for fibrinogen disorders. Molecular modeling might represent a valuable tool for understanding the function of certain missense fibrinogen mutations but those should be followed by functional studies. It is likely that genetic and environmental modifiers account for the incomplete penetrance and variable expressivity that characterize fibrinogen disorders.

show abstract

Section: Methodsmentioning

confidence: 99%

Identification and characterization of novel mutations implicated in congenital fibrinogen disorders

Smith

Bornikova

Noetzli

et al. 2018

Research and Practice in Thrombosis and Haemostasis

View full text Add to dashboard Cite

show abstract

“…The C-termini of the A chains (C domains) extend briefly through the D regions and fold back into coiled-coil connectors. Coiled-coil connectors composed of all three chains link the E and D nodules [3].…”

Section: Introductionmentioning

confidence: 99%

Recombinant γT305A fibrinogen indicates severely impaired fibrin polymerization due to the aberrant function of hole ‘a’ and calcium binding sites

Ikeda

Tamaki

Arai

et al. 2014

Thrombosis Research

View full text Add to dashboard Cite

show abstract

“…As letras "A" e "B" são utilizadas para designar os fibrinopeptídeos A (resíduos 1 a 16) e B (resíduos 1 a 14), que estão presentes nas regiões amino-terminais das cadeias Aα e Bβ, respectivamente (GENTRY, 2004;TENNENT et al, 2007;MEDVED & WEISEL, 2009 (DAHLBACK, 2000).…”

Section: Fibrinogêniounclassified

Purificação e caracterização bioquímica e funcional do fibrinogênio do plasma da serpente Bothrops jararaca (Wied, 1824) (Ophidia: Viperidae, Crotalinae)

Vieira¹

View full text Add to dashboard Cite

Recommendations for nomenclature on fibrinogen and fibrin

Cited by 119 publications

References 23 publications

Identification and characterization of novel mutations implicated in congenital fibrinogen disorders

Identification and characterization of novel mutations implicated in congenital fibrinogen disorders

Recombinant γT305A fibrinogen indicates severely impaired fibrin polymerization due to the aberrant function of hole ‘a’ and calcium binding sites

Purificação e caracterização bioquímica e funcional do fibrinogênio do plasma da serpente Bothrops jararaca (Wied, 1824) (Ophidia: Viperidae, Crotalinae)

Contact Info

Product

Resources

About