267 results on '"Pinotti, Mirko"'
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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. Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D′D3 and D4 domains
5. 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
6. The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction
7. Fo ATP synthase C subunit serum levels in patients with ST-segment Elevation Myocardial Infarction: Preliminary findings
8. The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII
9. Akt‐mediated phosphorylation of MICU1 regulates mitochondrial Ca2+ levels and tumor growth
10. 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.
11. Translational readthrough at F8 nonsense variants in factor VIII B domain contributes to residual expression and lowers inhibitor association
12. Cationic lipid nanosystems as carriers for nucleic acids
13. Role of clinical and laboratory parameters for treatment choice in patients with inherited FVII deficiency undergoing surgical procedures: evidence from the STER registry
14. 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.
15. Functional genetics
16. Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.
17. Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile
18. The dominant-negative von Willebrand factor gene deletion p.P1127_C1948delinsR: molecular mechanism and modulation
19. Membrane binding and anticoagulant properties of protein S natural variants
20. Regulation of a strong F9 cryptic 5′ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides
21. In vivo modulation of a dominant‐negative variant in mouse models of von Willebrand disease type 2A
22. Characterization of the intracellular signalling capacity of natural FXa mutants with reduced pro-coagulant activity
23. Comparative Analysis Of Residual Factor VIII Expression from Recurrent F8 Nonsense Mutations Indicates that Localization in the B- domain Favours Readthrough- mediated Protein Output
24. Design of a novel factor IX variant with enhanced procoagulant activity and half-life
25. Spontaneous readthrough over recurrent F8 nonsense mutations is associated with residual factor VIII levels: implications for inhibitor risk?
26. A next-generation rFVIIa fusion protein with enhanced half-life as a novel by-passing tool in hemophilia
27. Detection of Residual Factor VIII Levels Reveals the Occurrence of Readthrough Over the Majority of F8 Nonsense Mutations
28. Rational engineering of a novel factor IX albumin fusion protein results in enhanced coagulant activity and pharmacokinetic profile
29. Design of a novel factor IX albumin fusion protein with enhanced coagulant activity and pharmacokinetic profile
30. Genotype and PK Hemophilia B International Study (GePKHIS) - A progress Report
31. Intracellular Evaluation of ER Targeting Elucidates a Mild Form of Inherited Coagulation Deficiency
32. Circadian rhythms in mouse blood coagulation
33. Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations
34. Long-chain cationic derivatives of PTA (1,3,5-triaza-7-phosphaadamantane) as new components of potential non-viral vectors
35. An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects
36. Promoter methylation in coagulation F7 gene influences plasma FVII concentrations and relates to coronary artery disease
37. Effective Hemostasis During Minor Surgery in a Case of Hereditary Combined Deficiency of Vitamin K-dependent Clotting Factors
38. Coagulation and Clinical Features Associated with the Arg304gln Mutation (Factor VII Padua) in the Irf7 Study Group Response to Letter to the Editor Regarding “Factor VII Deficiency (Semin Thromb Hemost 2009;35(4):400–406)”
39. Temporal and Genotype-Driven Variation of Factor VII Levels in Patients With Acute Myocardial Infarction
40. Exploring spontaneous readthrough over recurrent F8 nonsense mutations: potential correlation with inhibitor risk?
41. Rescue of multiple Haemophilia A-causing mutations by a single ExSpeU1: the importance of the genomic context
42. Exon-Specific U1snRNA-Mediated Rescue of Splicing and Missense Changes in Hemophilia A
43. Asymptomatic carriership of factor V Leiden and genotypes of the fibrinogen gene cluster
44. Coinheritance of Factor V (FV) Leiden enhances thrombin formation and is associated with a mild bleeding phenotype in patients homozygous for the FVII 9726+5G>A (FVII Lazio) mutation
45. Polymorphisms in the Factor VII Gene and the Risk of Myocardial Infarction in Patients with Coronary Artery Disease
46. Fusion of engineered albumin with factor IX Padua extends half‐life and improves coagulant activity.
47. Recombinant Expression of F9 Nonsense Mutations and Fix Pharmacokinetics in Hemophilia B
48. Readthrough-mediated functional suppression of homozygous nonsense mutations accounts for variable bleeding phenotypes in factor VII deficiency
49. A strategy with chaperone-like compounds to restore expression of factor IX variants affected by frequent missense mutations causing hemophilia B
50. The carboxyl-terminal region of human coagulation factor X as a novel naturally-occuring linker for fusion strategies
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