Author details

Full Name

Francesco Bernardi

Affiliation

ORCID

Career Start Year

1977

Papers

270

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36533781	Modulation of factor VIII pharmacokinetics by genetic components in factor VIII receptors.		2023
35924581	Translational readthrough at nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association.	Haematologica	2023
37762110	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.		2023
37866515	InÂ vitro and exÂ vivo rescue of a nonsense mutation responsible for severe coagulation factor V deficiency.		2023
35160186	Combination of rs868875 G-Carriership and O Genotypes May Predict Faster Decay of FVIII Infused in Hemophilia A Patients.	Journal of Clinical Medicine	2022
35596664	The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms.	Journal of Thrombosis and Haemostasis	2022
34407556	The Asialoglycoprotein Receptor Minor Subunit Gene Contributes to Pharmacokinetics of Factor VIII Concentrates in Hemophilia A.	Thrombosis and Haemostasis	2022
34626083	F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.	Journal of Thrombosis and Haemostasis	2022
35008743	Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis.	International Journal of Molecular Sciences	2021
34242570	Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.	American Journal of Human Genetics	2021
33624506	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.	Journal of the American Heart Association	2021
34109608	Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity.	British Journal of Haematology	2021
34041636	Hemostasis components in cerebral amyloid angiopathy and Alzheimer's disease.	Neurological Sciences	2021
33047469	In vivo modulation of a dominant-negative variant in mouse models of von Willebrand disease type 2A.	Journal of Thrombosis and Haemostasis	2021
33422764	Baseline and overtime variations of soluble adhesion molecule plasma concentrations are associated with mobility recovery after rehabilitation in multiple sclerosis patients.	Journal of Neuroimmunology	2021
33406812	Biochemical, molecular and clinical aspects of coagulation factor VII and its role in hemostasis and thrombosis.	Haematologica	2021
34906067	OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf mice, and govern susceptibility to RNA-based therapies.	Molecular Medicine	2021
31408242	Plasma levels of protein C pathway proteins and brain magnetic resonance imaging volumes in multiple sclerosis.	European Journal of Neurology	2020
31649128	Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y deficiencies.	Haematologica	2020
32224381	Aptamer-modified FXa generation assays to investigate hypercoagulability in plasma from patients with ischemic heart disease.	Thromb Res	2020
31613176	Translational readthrough of nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.	RNA Biology	2020
32438216	Expression profiles of the internal jugular and saphenous veins: Focus on hemostasis genes.	Thrombosis Research	2020
33080806	Rehabilitation Improves Mitochondrial Energetics in Progressive Multiple Sclerosis: The Significant Role of Robot-Assisted Gait Training and of the Personalized Intensity.	Diagnostics	2020
33178104	Relationships Among Circulating Levels of Hemostasis Inhibitors, Chemokines, Adhesion Molecules, and MRI Characteristics in Multiple Sclerosis.	Front Neurol	2020
32722784	Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D'D3 and D4 domains.	Blood advances	2020
31307953	High-density lipoprotein cholesterol is associated with multiple sclerosis fatigue: AÂ fatigue-metabolism nexus?	J Clin Lipidol	2019
31649737	An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A.	Frontiers in Genetics	2019
30408273	Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs.	Human Mutation	2019
30602199	Apolipoprotein C-III Strongly Correlates with Activated Factor VII-Anti-Thrombin Complex: An Additional Link between Plasma Lipids and Coagulation.	Thromb Haemost	2019
30453126	The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies.	Thrombosis Research	2019
30597511	Are Plasma Levels of Vascular Adhesion Protein-1 Associated Both with Cerebral Microbleeds in Multiple Sclerosis and Intracerebral Haemorrhages in Stroke?	Thromb Haemost	2019
30412901	Plasma levels of soluble NCAM in multiple sclerosis.	J Neurol Sci	2019
31077650	Soluble neural cell adhesion molecule and behavioural recovery in minimally conscious patients undergoing transcranial direct current stimulation.	Clinica Chimica Acta	2019
31467667	The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII.	Cell and Bioscience	2019
31068896	Coagulation Pathways in Neurological Diseases: Multiple Sclerosis.	Frontiers in Neurology	2019
30899135	Performance prediction models based on anthropometric, genetic and psychological traits of Croatian sprinters.	Biology of Sport	2019
31005673	Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts.	Biochimica et Biophysica Acta - Gene Regulatory Mechanisms	2019
31055871	Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates.	Journal of Thrombosis and Haemostasis	2019
30994257	Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition.	Haemophilia	2019
31297130	Low-Frequency and Rare Variants in Italian Multiple Sclerosis Patients.	Frontiers in Genetics	2019
29497141	The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.	Journal of Human Genetics	2018
30031282	Increased CCL18 plasma levels are associated with neurodegenerative MRI outcomes in multiple sclerosis patients.	Mult Scler Relat Disord	2018
30134823	Changes in expression profiles of internal jugular vein wall and plasma protein levels in multiple sclerosis.	Molecular Medicine	2018
29993188	The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.	Journal of Thrombosis and Haemostasis	2018
29758118	Hemostasis biomarkers in multiple sclerosis.	Eur J Neurol	2018
29618153	Activation of Endoplasmic Reticulum Stress and Unfolded Protein Response in Congenital Factor VII Deficiency.	Thrombosis and Haemostasis	2018
29388273	Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B.	Human Mutation	2018
29170251	Clustered missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.	Haematologica	2018
29246447	Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain.	Biochimica et Biophysica Acta - Molecular Basis of Disease	2018
29731736	Coagulation Factor XII Levels and Intrinsic Thrombin Generation in Multiple Sclerosis.	Frontiers in Neurology	2018