Article

Immunogenic implications of translational readthrough modulate the association of F8 nonsense mutations with inhibitors in Hemophilia A

2026-04-23

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Among <italic>F8</italic> mutation types, main determinants of inhibitor development after replacement therapy in Hemophilia A, nonsense mutations display wide variation in the associated risk. Molecular mechanism of translational readthrough (Rdthr) at premature termination codons (PTCs), which produces traces of full-length factor VIII (FVIII) including m...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6462119e-2693-5593-9843-332d80eefc73
DOI: 10.21203/rs.3.rs-9414495/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Immunogenic implications of translational readthrough modulate the association of F8 nonsense mutations with inhibitors in Hemophilia ADOI 10.21203/rs.3.rs-9414495/v1Read

Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement.Semantic proximity Read

Heterozygous transcriptional signatures unmask variable premature termination codon (PTC) burden alongside pathway-specific adaptations in blood outgrowth endothelial cells from patients with nonsense DNA variants causing hereditary hemorrhagic telangiectasiaSemantic proximity Read

FVIII Immunogenicity-Bioinformatic Approaches to Evaluate Inhibitor Risk in Non-severe Hemophilia A.Semantic proximity Read

Variable readthrough responsiveness of nonsense mutations in hemophilia ASemantic proximity Read

A Scan of Pleiotropic Immune Mediated Disease Genes Identifies Novel Determinants of Baseline FVIII Inhibitor Status in Hemophilia-ASemantic proximity Read

A large-scale computational study of inhibitor risk in non-severe haemophilia A.Semantic proximity Read

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.Semantic proximity Read

Factor VIII genotype characterization of haemophilia A affected patients with transient and permanent inhibitors: a comprehensive Argentine study of inhibitor risks.Semantic proximity Read

Significance of F8 missense mutations with respect to inhibitor formation.Semantic proximity Read

Therapeutic Suppression of Nonsense Mutation: An Emerging Target in Multiple Diseases and Thrombotic Disorders.Semantic proximity Read

<i>In silico</i> calculated affinity of FVIII‐derived peptides for <scp>HLA</scp> class II alleles predicts inhibitor development in haemophilia A patients with missense mutations in the F8 geneSemantic proximity Read

Characterization of four novel molecular changes in the promoter region of the factor VIII gene.Semantic proximity Read