Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein.

Thrombosis and haemostasis - 1 Jan 2014

Pahl Saskia, Pavlova Anna, Driesen Julia, Oldenburg Johannes

Abstract excerpt

The B domain of the coagulation factor (F)VIII comprises some unique characteristics. Though the B domain is important for processing, intracellular transport and secretion of FVIII protein, its role in the coagulation still remains unclear. This study aims to investigate the influence of 19 reported B domain variants on quantity and quality of expressed FVIII protein. F8 variants were transiently expressed in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Blood Coagulation
Share to Factor VIII

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to HEK293 Cells

Share to Hemophilia A

Share to Hot Temperature

Share to Protein Stability

Share to Temperature

Source

Identifiers

PMID: 24108539
DOI: 10.1160/TH13-01-0028

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein.PMID 24108539Read ↗

Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.Semantic proximity Read ↗

Functional roles of the factor VIII B domainSemantic proximity Read ↗

The p. Arg1800His Mutation of Factor VIII Results in Moderate Hemophilia A Due to Defective Processing and Stability of Functional Protein.Semantic proximity Read ↗

Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency.Semantic proximity Read ↗

Functional identification of factor VIII B domain regions in hepatocyte cells.Semantic proximity Read ↗

Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII.Semantic proximity Read ↗

In vitro secretion deficits are common among human coagulation factor XIII subunit B missense mutants: correlations with patient phenotypes and molecular models.Semantic proximity Read ↗

Functional mapping of the A2 domain from human factor VIII.Semantic proximity Read ↗

Minimal Essential Human Factor VIII Alterations Enhance Secretion and Gene Therapy EfficiencySemantic proximity Read ↗

Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.Semantic proximity Read ↗

Identification of a novel mutation in the factor VIII gene causing severe haemophilia ASemantic proximity Read ↗

The activation peptide of coagulation factor XIII is vital for its expression and stability.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.