Disease-causing variants of the conserved +2T of 5′ splice sites can be rescued by engineered U1snRNAs

Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition

The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies

Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts

Rescue of missense and splicing mutations in Haemophilia A by a unique Exon Specific U1snRNA

Role of clinical and laboratory parameters for treatment choice in patients with inherited FVII deficiency undergoing surgical procedures: evidence from the STER registry

Activation of Endoplasmic Reticulum Stress and Unfolded Protein Response in Congenital Factor VII Deficiency

Akt-mediated phosphorylation of MICU1 regulates mitochondrial Ca2+ levels and tumor growth

Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B

Recombinant Expression of F9 Nonsense Mutations and Fix Pharmacokinetics in Hemophilia B

The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation

The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction

The carboxyl-terminal region of human coagulation factor X as a novel naturally-occuring linker for fusion strategies

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B

The chaperone-like compound sodium phenylbutyrate improves intracellular trafficking, secretion and coagulant activity of factor IX impaired by the frequent p.R294Q mutation

Readthrough-mediated functional suppression of homozygous nonsense mutations accounts for variable bleeding phenotypes in factor VII deficiency

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model

Il difetto di fattore VII

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity