| Nome |
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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
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1.135
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Identification of novel mechanisms underlying functional response to drug-induced readthrough of haemophilia B nonsense mutations, file e309ade5-6d58-3969-e053-3a05fe0a2c94
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1.009
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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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145
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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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107
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Impact of a Probiotic-Based Cleaning Intervention on the Microbiota Ecosystem of the Hospital Surfaces: Focus on the Resistome Remodulation, file e309ade0-c376-3969-e053-3a05fe0a2c94
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106
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Akt-mediated phosphorylation of MICU1 regulates mitochondrial Ca 2+ levels and tumor growth, file e309ade2-5393-3969-e053-3a05fe0a2c94
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97
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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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70
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Molecular mechanisms and determinants of innovative correction approaches in coagulation factor deficiencies, file e309ade3-180d-3969-e053-3a05fe0a2c94
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68
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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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66
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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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65
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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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62
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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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59
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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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58
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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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57
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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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55
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Contribution of asialoglycoprotein receptor ASGR2 5’ UTR polymorphisms to full-length FVIII concentrate pharmacokinetics, file e309ade4-bd48-3969-e053-3a05fe0a2c94
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52
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Chronic sleep deprivation markedly reduces coagulation factor VII expression, file e309ade0-3764-3969-e053-3a05fe0a2c94
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49
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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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47
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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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45
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Exploring spontaneous readthrough over recurrent F8 nonsense mutations: potential correlation with inhibitor risk?, file e309ade4-8508-3969-e053-3a05fe0a2c94
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42
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The carboxyl-terminal region of coagulation factors:
role in biosynthesis and function of FVII and FX, file e309ade1-d72b-3969-e053-3a05fe0a2c94
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41
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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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38
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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
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30
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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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27
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Genotype and PK Hemophilia B International Study (GePKHIS) - A progress Report, file e309ade4-b56a-3969-e053-3a05fe0a2c94
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26
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Rational engineering of a novel factor IX albumin fusion protein results in enhanced coagulant activity and pharmacokinetic profile, file e309ade4-ae44-3969-e053-3a05fe0a2c94
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25
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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
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18
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Hard surface biocontrol in hospitals using microbial-based cleaning products, file e309ade0-404a-3969-e053-3a05fe0a2c94
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17
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Molecular insights into determinants of translational readthrough and implications for nonsense suppression approaches, file e309ade2-f80d-3969-e053-3a05fe0a2c94
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15
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Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates, file e309ade3-a11d-3969-e053-3a05fe0a2c94
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15
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Next generation factor VIIa with enhanced half-life, file e309ade4-bb64-3969-e053-3a05fe0a2c94
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15
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A next-generation rFVIIa fusion protein with enhanced half-life as a novel by-passing tool in hemophilia, file e309ade4-aca2-3969-e053-3a05fe0a2c94
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13
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Hemostasis gene expression of the internal jugular and saphenous veins, file e309ade4-c5d7-3969-e053-3a05fe0a2c94
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12
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The asialoglycoprotein receptor ASGR2 5’ UTR polymorphisms influence several parameters of full-length FVIII concentrate pharmacokinetics, file e309ade4-ca43-3969-e053-3a05fe0a2c94
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12
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F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes, file e309ade5-3a75-3969-e053-3a05fe0a2c94
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12
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Detection of Residual Factor VIII Levels Reveals the Occurrence of Readthrough Over the Majority of F8 Nonsense Mutations, file e309ade4-a18b-3969-e053-3a05fe0a2c94
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11
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An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics, file e309ade4-bd31-3969-e053-3a05fe0a2c94
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11
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Design of a novel factor IX albumin fusion protein with enhanced coagulant activity and pharmacokinetic profile, file e309ade4-cf12-3969-e053-3a05fe0a2c94
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11
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Design of a novel factor IX variant with enhanced procoagulant activity and half-life, file e309ade4-ae43-3969-e053-3a05fe0a2c94
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10
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An exon-specific small nuclear u1 rna (Exspeu1) improves hepatic otc expression in a splicing-defective spf /ash mouse model of ornithine transcarbamylase deficiency, file e309ade2-e3b4-3969-e053-3a05fe0a2c94
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9
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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
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9
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Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity, file e309ade4-7a0c-3969-e053-3a05fe0a2c94
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8
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Spontaneous readthrough over recurrent F8 nonsense mutations is associated with residual factor VIII levels: implications for inhibitor risk?, file e309ade4-97bf-3969-e053-3a05fe0a2c94
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7
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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 b106babb-6b5c-4845-8926-d23b521e1099
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6
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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
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6
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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
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5
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The carboxyl-terminal region of human coagulation factor X as a novel naturally-occuring linker for fusion strategies, file e309ade5-7369-3969-e053-3a05fe0a2c94
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5
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The Asialoglycoprotein Receptor Minor Subunit Gene Contributes to Pharmacokinetics of Factor VIII Concentrates in Hemophilia A, file cf184f42-7195-428a-a7c9-8b1ef36faf62
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4
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Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation, file e309ade1-2e22-3969-e053-3a05fe0a2c94
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4
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La sanificazione delle degenze ospedaliere: nuove strategie a supporto della riduzione delle infezioni correlate all’assistenza sanitaria, file e309ade0-44a8-3969-e053-3a05fe0a2c94
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3
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Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition, file e309ade3-1dea-3969-e053-3a05fe0a2c94
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3
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The F7 p.Val22Ile missense mutation affects splicing and can be counteracted by a
compensatory U1snRNA, file e309ade3-2432-3969-e053-3a05fe0a2c94
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3
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Comparative Analysis Of Residual Factor VIII Expression from Recurrent F8 Nonsense Mutations Indicates that Localization in the B- domain Favours Readthrough- mediated Protein Output, file e78c85f4-6fa2-41b4-aa52-0b73eb64b1c3
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3
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Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant, file e309ade0-363f-3969-e053-3a05fe0a2c94
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2
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Disease-causing variants of the conserved+2T of 5 ' splice sites can be rescued by engineered U1snRNAs, file e309ade2-cae2-3969-e053-3a05fe0a2c94
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2
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The carboxyl-terminal region of coagulation serine proteases: A matter of cut and change, file e309ade5-0fa4-3969-e053-3a05fe0a2c94
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2
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Characterization of the intracellular signalling capacity of natural FXa mutants with reduced pro-coagulant activity, file e309ade0-2865-3969-e053-3a05fe0a2c94
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1
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Il sistema di sanificazione PCHS Probiotic Cleaning Hygien System: risultati delle indagini sperimentali in vitro e in campo, file e309ade0-44a7-3969-e053-3a05fe0a2c94
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1
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Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency, file e309ade1-2b7b-3969-e053-3a05fe0a2c94
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1
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The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies, file e309ade2-af05-3969-e053-3a05fe0a2c94
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1
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Expression profiles of the internal jugular and saphenous veins: Focus on hemostasis genes, file e309ade4-5aaa-3969-e053-3a05fe0a2c94
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1
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An optimized in vitro expression platform identifies Haemophilia B nonsense mutations, and thus patients, eligible for therapeutic drug-induced readthrough, file e309ade4-a03c-3969-e053-3a05fe0a2c94
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1
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F9 genotype and PK hemophilia B international study (GEPKHIS), file e309ade5-32b2-3969-e053-3a05fe0a2c94
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1
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Readthrough-mediated functional suppression of homozygous nonsense mutations accounts for variable bleeding phenotypes in factor VII deficiency, file e309ade5-5f09-3969-e053-3a05fe0a2c94
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1
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Translation termination codons in protein synthesis and disease, file e5d8ab22-da6d-4cc7-b340-d2f37766661a
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1
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| Totale |
3.843 |