| Nome |
# |
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An integrated genomic-transcriptomic approach supports a role for the proto-oncogene BCL3 in atherosclerosis, file e309ade3-2242-3969-e053-3a05fe0a2c94
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219
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Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System, file e309ade1-53ae-3969-e053-3a05fe0a2c94
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206
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Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy, file e309ade1-2444-3969-e053-3a05fe0a2c94
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96
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Expression Profiles of the Internal Jugular and Saphenous Veins: Focus on Hemostasis Genes, file e309ade4-6315-3969-e053-3a05fe0a2c94
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96
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The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction, file e309ade3-1cfc-3969-e053-3a05fe0a2c94
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94
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Biochemical, molecular and clinical aspects of coagulation factor VII and its role in hemostasis and thrombosis, file e309ade3-f441-3969-e053-3a05fe0a2c94
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81
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Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations, file e309ade3-2047-3969-e053-3a05fe0a2c94
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71
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The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms, file 2ead6dc7-d9af-41b1-a094-50a9dc24810a
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66
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An exon-specific U1snRNA induces a robust factor IX activity in mice expressing multiple human FIX splicing mutants, file e309ade1-2dd9-3969-e053-3a05fe0a2c94
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63
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The carboxyl-terminal region is NOT essential for secreted and functional levels of coagulation factor X, file e309ade1-2d01-3969-e053-3a05fe0a2c94
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62
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Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain, file e309ade3-1737-3969-e053-3a05fe0a2c94
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61
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Coagulation Factor XII Levels and Intrinsic Thrombin Generation in Multiple Sclerosis, file e309ade2-aea9-3969-e053-3a05fe0a2c94
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60
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Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity, file e309ade3-242f-3969-e053-3a05fe0a2c94
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59
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Changes in expression profiles of internal jugular vein wall and plasma protein levels in multiple sclerosis, file e309ade3-1909-3969-e053-3a05fe0a2c94
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57
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Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants, file e309ade4-8f47-3969-e053-3a05fe0a2c94
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57
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The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation, file e309ade3-1d7c-3969-e053-3a05fe0a2c94
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55
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Activated factor VII-antithrombin complex predicts mortality in patients with stable coronary artery disease: a cohort study, file e309ade1-272c-3969-e053-3a05fe0a2c94
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54
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Hemostasis biomarkers in multiple sclerosis, file e309ade4-4d6d-3969-e053-3a05fe0a2c94
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54
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An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes, file e309ade0-d8c6-3969-e053-3a05fe0a2c94
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52
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Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides, file e309ade1-23d4-3969-e053-3a05fe0a2c94
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51
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An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A, file e309ade2-56d0-3969-e053-3a05fe0a2c94
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51
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Better or worse than the original, file e309ade1-278d-3969-e053-3a05fe0a2c94
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50
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The effectiveness of Robot-Assisted Gait Training versus conventional therapy on mobility in severely disabled progressIve MultiplE sclerosis patients (RAGTIME): Study protocol for a randomized controlled trial, file e309ade1-3dd8-3969-e053-3a05fe0a2c94
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49
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C6orf10 low-frequency and rare variants in italian multiple sclerosis patients, file e309ade3-2317-3969-e053-3a05fe0a2c94
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49
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The Factor VII Variant p.A354V-p.P464Hfs: Clinical versus Intracellular and Biochemical Phenotypes Induced by Chemical Chaperones, file e309ade4-72a9-3969-e053-3a05fe0a2c94
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48
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Coagulation pathways in neurological diseases: Multiple sclerosis, file e309ade4-0493-3969-e053-3a05fe0a2c94
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47
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Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies, file e309ade2-61b4-3969-e053-3a05fe0a2c94
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45
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C6orf10 low-frequency and rare variants in italian multiple sclerosis patients, file e309ade2-317b-3969-e053-3a05fe0a2c94
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44
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Contribution of asialoglycoprotein receptor ASGR2 5’ UTR polymorphisms to full-length FVIII concentrate pharmacokinetics, file e309ade4-bd48-3969-e053-3a05fe0a2c94
|
40
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Exploring spontaneous readthrough over recurrent F8 nonsense mutations: potential correlation with inhibitor risk?, file e309ade4-8508-3969-e053-3a05fe0a2c94
|
37
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Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity, file e309ade4-a41d-3969-e053-3a05fe0a2c94
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37
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PCR Detection of a Repeat Polymorphism within the F7 Gene, file e309ade4-a4be-3969-e053-3a05fe0a2c94
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36
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The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII, file e309ade2-be6c-3969-e053-3a05fe0a2c94
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35
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Hemostasis biomarkers in multiple sclerosis, file e309ade2-02d5-3969-e053-3a05fe0a2c94
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30
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Activation of Endoplasmic Reticulum Stress and Unfolded Protein Response in Congenital Factor VII Deficiency, file e309ade3-aff9-3969-e053-3a05fe0a2c94
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30
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Increased CCL18 plasma levels are associated with neurodegenerative MRI outcomes in multiple sclerosis patients, file e309ade3-ead8-3969-e053-3a05fe0a2c94
|
27
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Plasma levels of soluble NCAM in multiple sclerosis, file e309ade3-d2de-3969-e053-3a05fe0a2c94
|
25
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Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B, file e309ade5-5e04-3969-e053-3a05fe0a2c94
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24
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Apolipoprotein C-III Strongly Correlates with Activated Factor VII-Anti-Thrombin Complex: An Additional Link between Plasma Lipids and Coagulation, file e309ade4-006e-3969-e053-3a05fe0a2c94
|
22
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Basophil Blood Cell Count Is Associated With Enhanced Factor II Plasma Coagulant Activity and Increased Risk of Mortality in Patients With Stable Coronary Artery Disease: Not Only Neutrophils as Prognostic Marker in Ischemic Heart Disease, file e309ade3-e61b-3969-e053-3a05fe0a2c94
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21
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Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition, file e309ade3-b1f3-3969-e053-3a05fe0a2c94
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19
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Genotype and PK Hemophilia B International Study (GePKHIS) - A progress Report, file e309ade4-b56a-3969-e053-3a05fe0a2c94
|
16
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|
CRISPR activation on coagulation F7 or F8 promoters potentiate trascriptional activity in the normal and mutated gene context, file e309ade4-d57e-3969-e053-3a05fe0a2c94
|
13
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Performance prediction models based on anthropometric, genetic and psychological traits of Croatian sprinters, file e309ade2-1b3e-3969-e053-3a05fe0a2c94
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12
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Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation, file e309ade3-aff7-3969-e053-3a05fe0a2c94
|
12
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Disease-causing variants of the conserved+2T of 5 ' splice sites can be rescued by engineered U1snRNAs, file e309ade3-dae6-3969-e053-3a05fe0a2c94
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12
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Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates, file e309ade3-a11d-3969-e053-3a05fe0a2c94
|
11
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Are Plasma Levels of Vascular Adhesion Protein-1 Associated Both with Cerebral Microbleeds in Multiple Sclerosis and Intracerebral Haemorrhages in Stroke?, file e309ade3-c025-3969-e053-3a05fe0a2c94
|
11
|
|
Basophil Blood Cell Count Is Associated With Enhanced Factor II Plasma Coagulant Activity and Increased Risk of Mortality in Patients With Stable Coronary Artery Disease: Not Only Neutrophils as Prognostic Marker in Ischemic Heart Disease, file e309ade3-e61c-3969-e053-3a05fe0a2c94
|
11
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Exon-Specific U1snRNA-Mediated Rescue of Splicing and Missense Changes in Hemophilia A, file e309ade4-92c0-3969-e053-3a05fe0a2c94
|
11
|
|
The asialoglycoprotein receptor ASGR2 5’ UTR polymorphisms influence several parameters of full-length FVIII concentrate pharmacokinetics, file e309ade4-ca43-3969-e053-3a05fe0a2c94
|
10
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|
The heterozygous 20210 G/A genotype prevalence in patients affected by central and branch retinal vein occlusion: a pilot study., file e309ade0-f8dd-3969-e053-3a05fe0a2c94
|
9
|
|
Rehabilitation improves mitochondrial energetics in progressive multiple sclerosis: The significant role of robot-assisted gait training and of the personalized intensity, file e309ade2-cd4d-3969-e053-3a05fe0a2c94
|
9
|
|
Detection of Residual Factor VIII Levels Reveals the Occurrence of Readthrough Over the Majority of F8 Nonsense Mutations, file e309ade4-a18b-3969-e053-3a05fe0a2c94
|
9
|
|
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies, file e309ade4-5fd0-3969-e053-3a05fe0a2c94
|
8
|
|
Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity, file e309ade4-7a0c-3969-e053-3a05fe0a2c94
|
8
|
|
F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes, file e309ade5-3a75-3969-e053-3a05fe0a2c94
|
8
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|
Plasma levels of protein C pathway proteins and brain magnetic resonance imaging volumes in multiple sclerosis, file e309ade4-6de3-3969-e053-3a05fe0a2c94
|
7
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|
Rescue of multiple Haemophilia A-causing mutations by a single ExSpeU1: the importance of the genomic context, file e309ade4-8689-3969-e053-3a05fe0a2c94
|
7
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|
Hemostasis gene expression of the internal jugular and saphenous veins, file e309ade4-c5d7-3969-e053-3a05fe0a2c94
|
7
|
|
Identification of novel mechanisms underlying functional response to drug-induced readthrough of haemophilia B nonsense mutations, file e309ade5-6d58-3969-e053-3a05fe0a2c94
|
6
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Idiopathic central retinal vein occlusion in a thrombophilic patient with the heterozygous 20210 G/A prothrombin genotype, file e309ade0-fdbe-3969-e053-3a05fe0a2c94
|
5
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|
Genetic determinants of activated factor VII antithrombin complex plasma concentration include tissue factor, factor VII and endothelial protein C receptor gene variants, file e309ade1-2376-3969-e053-3a05fe0a2c94
|
5
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|
Are Plasma Levels of Vascular Adhesion Protein-1 Associated Both with Cerebral Microbleeds in Multiple Sclerosis and Intracerebral Haemorrhages in Stroke?, file e309ade2-0c6d-3969-e053-3a05fe0a2c94
|
5
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|
Relationships among circulating levels of hemostasis inhibitors, chemokines, adhesion molecules, and mri characteristics in multiple sclerosis, file e309ade3-a281-3969-e053-3a05fe0a2c94
|
5
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|
Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D'D3 and D4 domains, file e309ade3-d58e-3969-e053-3a05fe0a2c94
|
5
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|
Favourable recombinant factor IX pharmacokinetics outcomes in severe hemophilia B patients with FIX activation site mutations, file e309ade4-94e4-3969-e053-3a05fe0a2c94
|
5
|
|
null, file b106babb-6b5c-4845-8926-d23b521e1099
|
4
|
|
Stimulation of P2 (P2X7) receptors in human dendritic cells induces the release of tissue factor-bearing microparticles., file e309ade0-21b4-3969-e053-3a05fe0a2c94
|
4
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|
Release of Tissue Factor-bearing microparticles by human dendritic cells induced by stimulation of membrane P2X7 receptors, file e309ade0-23a8-3969-e053-3a05fe0a2c94
|
4
|
|
Circadian rhythms in mouse blood coagulation, file e309ade0-2433-3969-e053-3a05fe0a2c94
|
4
|
|
null, file e309ade0-2c5f-3969-e053-3a05fe0a2c94
|
4
|
|
Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation, file e309ade1-2e22-3969-e053-3a05fe0a2c94
|
4
|
|
In vivo modulation of a dominant-negative variant in mouse models of von Willebrand disease type 2A, file e309ade3-c218-3969-e053-3a05fe0a2c94
|
4
|
|
High-density lipoprotein cholesterol is associated with multiple sclerosis fatigue: A fatigue-metabolism nexus?, file e309ade4-3cca-3969-e053-3a05fe0a2c94
|
4
|
|
Spontaneous readthrough over recurrent F8 nonsense mutations is associated with residual factor VIII levels: implications for inhibitor risk?, file e309ade4-97bf-3969-e053-3a05fe0a2c94
|
4
|
|
The carboxyl-terminal region of human coagulation factor X as a novel naturally-occuring linker for fusion strategies, file e309ade5-7369-3969-e053-3a05fe0a2c94
|
4
|
|
Evidence for an overlapping role of clock and npas2 transcription factors in liver circadian oscillators, file e309ade0-2725-3969-e053-3a05fe0a2c94
|
3
|
|
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects, file e309ade0-363e-3969-e053-3a05fe0a2c94
|
3
|
|
Increased CCL18 plasma levels are associated with neurodegenerative MRI outcomes in multiple sclerosis patients, file e309ade1-fc0b-3969-e053-3a05fe0a2c94
|
3
|
|
Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition, file e309ade3-1dea-3969-e053-3a05fe0a2c94
|
3
|
|
The F7 p.Val22Ile missense mutation affects splicing and can be counteracted by a
compensatory U1snRNA, file e309ade3-2432-3969-e053-3a05fe0a2c94
|
3
|
|
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function, file e309ade4-9d59-3969-e053-3a05fe0a2c94
|
3
|
|
A strategy with chaperone-like compounds to restore expression of factor IX variants affected by frequent missense mutations causing hemophilia B, file e309ade5-6bd5-3969-e053-3a05fe0a2c94
|
3
|
|
Rescue of missense and splicing mutations in Haemophilia A by a unique Exon Specific U1snRNA, file e309ade5-9871-3969-e053-3a05fe0a2c94
|
3
|
|
Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association, file 5fbac144-86d9-453d-8ae2-bfb235899756
|
2
|
|
Contribution of low density lipoprotein receptor-related protein genotypes to coagulation factor VIII levels in thrombotic women, file e309ade0-27da-3969-e053-3a05fe0a2c94
|
2
|
|
Daily and circadian rhythms of tissue factor pathway inhibitor and factor VII activity, file e309ade0-2af5-3969-e053-3a05fe0a2c94
|
2
|
|
Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant, file e309ade0-363f-3969-e053-3a05fe0a2c94
|
2
|
|
Chronic sleep deprivation markedly reduces coagulation factor VII expression, file e309ade0-3764-3969-e053-3a05fe0a2c94
|
2
|
|
null, file e309ade0-4e3a-3969-e053-3a05fe0a2c94
|
2
|
|
Plasma levels of soluble NCAM in multiple sclerosis, file e309ade1-f60d-3969-e053-3a05fe0a2c94
|
2
|
|
Disease-causing variants of the conserved+2T of 5 ' splice sites can be rescued by engineered U1snRNAs, file e309ade2-cae2-3969-e053-3a05fe0a2c94
|
2
|
|
Hemostasis biomarkers in multiple sclerosis, file e309ade3-2415-3969-e053-3a05fe0a2c94
|
2
|
|
Organization of α-Globin Genes and mRNA Translation in Subjects Carrying Haemoglobin Hasharon (α47 Asp → His) from the Ferrara Region (Northern Italy), file e309ade4-a73a-3969-e053-3a05fe0a2c94
|
2
|
|
Combination of CLEC4M rs868875 G-Carriership and ABO O Genotypes May Predict Faster Decay of FVIII Infused in Hemophilia A Patients, file e309ade5-4cbd-3969-e053-3a05fe0a2c94
|
2
|
|
The chaperone-like compound sodium phenylbutyrate improves intracellular trafficking, secretion and coagulant activity of factor IX impaired by the frequent p.R294Q mutation, file e309ade5-7c15-3969-e053-3a05fe0a2c94
|
2
|
|
null, file e309ade0-22d7-3969-e053-3a05fe0a2c94
|
1
|
|
U1snRNA-mediated rescue of mRNA processing in severe factor VII deficiency, file e309ade0-254c-3969-e053-3a05fe0a2c94
|
1
|
|
Characterization of the intracellular signalling capacity of natural FXa mutants with reduced pro-coagulant activity, file e309ade0-2865-3969-e053-3a05fe0a2c94
|
1
|
| Totale |
2698 |