419 results on '"Pinotti, Mirko"'
Search Results
2. The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms
3. F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes
4. DNA base editing corrects common Hemophilia A mutations and restores factor VIII expression in vitro and ex-vivo models
5. Translation termination codons in protein synthesis and disease
6. Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D′D3 and D4 domains
7. OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies
8. DNA base editing corrects common hemophilia A mutations and restores factor VIII expression in in vitroand ex vivomodels
9. The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction
10. 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
11. Translational readthrough at F8 nonsense variants in factor VIII B domain contributes to residual expression and lowers inhibitor association
12. Fo ATP synthase C subunit serum levels in patients with ST-segment Elevation Myocardial Infarction: Preliminary findings
13. The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII
14. Akt‐mediated phosphorylation of MICU1 regulates mitochondrial Ca2+ levels and tumor growth
15. 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.
16. Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing
17. Translational readthrough at F8 nonsense variants in factor VIII B domain contributes to residual expression and lowers inhibitor association
18. Cationic lipid nanosystems as carriers for nucleic acids
19. Role of clinical and laboratory parameters for treatment choice in patients with inherited FVII deficiency undergoing surgical procedures: evidence from the STER registry
20. Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association
21. 1,3,8-Triazaspiro[4.5]decane Derivatives Inhibit Permeability Transition Pores through a F O -ATP Synthase c Subunit Glu 119 -Independent Mechanism That Prevents Oligomycin A-Related Side Effects.
22. Functional genetics
23. Not Just Loss-of-Function Variations
24. Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile
25. The dominant-negative von Willebrand factor gene deletion p.P1127_C1948delinsR: molecular mechanism and modulation
26. Membrane binding and anticoagulant properties of protein S natural variants
27. Regulation of a strong F9 cryptic 5′ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides
28. In vivo modulation of a dominant‐negative variant in mouse models of von Willebrand disease type 2A
29. Characterization of the intracellular signalling capacity of natural FXa mutants with reduced pro-coagulant activity
30. An advanced method for the small-scale production of high-quality minicircle DNA
31. Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function
32. Fusion of engineered albumin with factor IX Padua extends half‐life and improves coagulant activity
33. Comparative Analysis Of Residual Factor VIII Expression from Recurrent F8 Nonsense Mutations Indicates that Localization in the B- domain Favours Readthrough- mediated Protein Output
34. Additional file 1 of OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies
35. A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients
36. Design of a novel factor IX variant with enhanced procoagulant activity and half-life
37. Spontaneous readthrough over recurrent F8 nonsense mutations is associated with residual factor VIII levels: implications for inhibitor risk?
38. A next-generation rFVIIa fusion protein with enhanced half-life as a novel by-passing tool in hemophilia
39. Detection of Residual Factor VIII Levels Reveals the Occurrence of Readthrough Over the Majority of F8 Nonsense Mutations
40. Rational engineering of a novel factor IX albumin fusion protein results in enhanced coagulant activity and pharmacokinetic profile
41. Design of a novel factor IX albumin fusion protein with enhanced coagulant activity and pharmacokinetic profile
42. Genotype and PK Hemophilia B International Study (GePKHIS) - A progress Report
43. Intracellular Evaluation of ER Targeting Elucidates a Mild Form of Inherited Coagulation Deficiency
44. A compensatory U1snRNA partially rescues FAH splicing and protein expression in a splicing-defective mouse model of tyrosinemia type I
45. Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches
46. Circadian rhythms in mouse blood coagulation
47. Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations
48. Long-chain cationic derivatives of PTA (1,3,5-triaza-7-phosphaadamantane) as new components of potential non-viral vectors
49. An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects
50. Promoter methylation in coagulation F7 gene influences plasma FVII concentrations and relates to coronary artery disease
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.