Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction

Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association

Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing

1,3,8-Triazaspiro[4.5]decane Derivatives Inhibit Permeability Transition Pores through a FO-ATP Synthase c Subunit Glu119-Independent Mechanism That Prevents Oligomycin A-Related Side Effects

A factor X variant with engineered activation peptide as innovative by-passing agent for haemophilia

Rescue of a FVIII splicing variant with engineered U1snRNAs

Base and Prime editing of DNA as a new therapeutic option for Hemophilia A

Engineered suppressor tRNAs as a novel correction approach for recurrent hemophilia A-causing nonsense mutations

Rescue of a hemophilia A-causing FVIII splicing variant via engineered U1SNRNAS

New Genome Editing Approaches: Base And Prime Editing To Revert Hemophilia A-Causing Point Mutations

A new type 1 von Willebrand Disease (VWD) characterized by increased clearance of von Willebrand Factor (VWF) due to the heterozygous p.P1127S mutation: clinical phenotype and pathogenic mechanisms

An engineered factor X variant as a novel by-passing agent for hemophilia

The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms

Translation termination codons in protein synthesis and disease

Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution

F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes

Comparative Analysis Of Residual Factor VIII Expression from Recurrent F8 Nonsense Mutations Indicates that Localization in the B- domain Favours Readthrough- mediated Protein Output

An advanced method for the small-scale production of high-quality minicircle DNA

Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function

A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients