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List of works by Mirko Pinotti

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I

scientific article published on 20 March 2020

A frequent human coagulation Factor VII mutation (A294V, c152) in loop 140s affects the interaction with activators, tissue factor and substrates.

scientific article published in April 2002

Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant.

scientific article published on 09 March 2012

Akt-mediated phosphorylation of MICU1 regulates mitochondrial Ca2+ levels and tumor growth

scientific article published on 30 November 2018

An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency

scientific article published on 19 November 2020

An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.

scientific article published on February 2014

An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics

scientific article published on 01 October 2020

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

scientific article

Asymptomatic carriership of factor V Leiden and genotypes of the fibrinogen gene cluster

scientific article published in May 2003

Cationic lipid nanosystems as carriers for nucleic acids

scientific article published on 11 October 2013

Characterization of anti-coagulant properties of prenylated coumarin ferulenol

scientific article published on 12 July 2007

Characterization of the intracellular signalling capacity of natural FXa mutants with reduced pro-coagulant activity.

scientific article

Chronic sleep deprivation markedly reduces coagulation factor VII expression

scientific article

Circadian Rhythms in Mouse Blood Coagulation

scientific article published on 01 June 2005

Coagulation factor VII variants resistant to inhibitory antibodies

scientific article published on 07 August 2014

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

scientific article

Combined effect of hemostatic gene polymorphisms and the risk of myocardial infarction in patients with advanced coronary atherosclerosis

scientific article

Comparison among natural (Arg304Gln, Arg304Trp) and artificial (Arg290His, Arg290Lys) mutations in coagulation factor VII loops

scientific article published on 01 November 2003

Daily and circadian rhythms of tissue factor pathway inhibitor and factor VII activity

scientific article published on 16 December 2004

Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs

scientific article published on 19 November 2018

Effective hemostasis during minor surgery in a case of hereditary combined deficiency of vitamin K-dependent clotting factors

scientific article

Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency

scientific article published on 01 March 2008

Factor VII mutant V154G models a zymogen-like form of factor VIIa.

scientific article published on February 2003

Functional genetics.

scientific article

Gentamicin induces sub-therapeutic levels of coagulation factor VII in patients with nonsense mutations

scientific article published on 01 August 2006

Influence of polymorphisms in the factor VII gene promoter on activated factor VII levels and on the risk of myocardial infarction in advanced coronary atherosclerosis

scientific article published on 01 September 2004

Inhibitors to factor VII in congenital factor VII deficiency.

scientific article published in March 2014

Intracellular evaluation of ER targeting elucidates a mild form of inherited coagulation deficiency

scientific article

Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII.

scientific article published on June 2006

Long-chain cationic derivatives of PTA (1,3,5-triaza-7-phosphaadamantane) as new components of potential non-viral vectors

scientific article

Major differences in bleeding symptoms between factor VII deficiency and hemophilia B.

scientific article

Management of kidney transplantation in a factor VII-deficient patient: case report

scientific article published on 01 September 2012

Mcl-1 involvement in mitochondrial dynamics is associated with apoptotic cell death

scientific article

Modulation of factor V levels in plasma by polymorphisms in the C2 domain.

scientific article

Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches

scientific article published on 11 December 2020

Molecular bases of type II protein S deficiency: the I203-D204 deletion in the EGF4 domain alters GLA domain function

scientific article published on 01 January 2006

Mutation pattern in clinically asymptomatic coagulation factor VII deficiency

scientific article published on 01 January 1996

Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency ⬇️

scientific article published on December 16, 2011

Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolonged pharmacodynamic effect

scientific article published on 24 April 2014

Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile

scientific article published in September 2010

Polymorphisms in the factor VII gene and the risk of myocardial infarction in patients with coronary artery disease

scientific article published on 01 September 2000

Promoter methylation in coagulation F7 gene influences plasma FVII concentrations and relates to coronary artery disease

scientific article published on 07 February 2012

RNA‐based therapeutic approaches for coagulation factor deficiencies ⬇️

scientific article published on November 1, 2011

Rescue of coagulation factor VII function by the U1+5A snRNA.

scientific article published on 22 April 2009

Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations

scientific article

Stimulation of P2 (P2X7) receptors in human dendritic cells induces the release of tissue factor-bearing microparticles

scientific article published on 21 February 2007

Temporal Variations of Coagulation Factor VII Activity in Mice Are Influenced by Lighting Regime

scientific article published on 01 January 2007

Temporal and Genotype-Driven Variation of Factor VII Levels in Patients With Acute Myocardial Infarction

scientific article published on 01 February 2009

The dominant-negative von Willebrand factor gene deletion p.P1127_C1948delinsR: molecular mechanism and modulation

scientific article published on 27 August 2010

The factor V Glu1608Lys mutation is recurrent in familial thrombophilia

scientific article

Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants

scientific article published on 15 October 2019

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency

scientific article published on 21 December 2007

Vitamin K-induced modification of coagulation phenotype in VKORC1 homozygous deficiency

scientific article published on 25 February 2008

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