Lista de obras - Mirko Pinotti - Dominio Público Uruguay

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

artículo científico publicado en 2012

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

artículo científico publicado en 2003

Cationic lipid nanosystems as carriers for nucleic acids

artículo científico publicado en 2013

Characterization of anti-coagulant properties of prenylated coumarin ferulenol

artículo científico publicado en 2007

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

artículo científico publicado en 2008

Chronic sleep deprivation markedly reduces coagulation factor VII expression

artículo científico publicado en 2010

Circadian Rhythms in Mouse Blood Coagulation

artículo científico publicado en 2005

Coagulation factor VII variants resistant to inhibitory antibodies

artículo científico publicado en 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.

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2009

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.

artículo científico publicado en 2003

Functional genetics.

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2003

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

artículo científico publicado en 2020

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

artículo científico publicado en 2006

Mutation pattern in clinically asymptomatic coagulation factor VII deficiency

artículo científico publicado en 1996

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

artículo científico publicado en 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

artículo científico publicado en 2012

RNA‐based therapeutic approaches for coagulation factor deficiencies ⬇️

artículo científico publicado el 1 de noviembre de 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2010

The factor V Glu1608Lys mutation is recurrent in familial thrombophilia.

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

Lista de obras de Mirko Pinotti

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

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

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

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

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

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

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

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

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

Cationic lipid nanosystems as carriers for nucleic acids

Characterization of anti-coagulant properties of prenylated coumarin ferulenol

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

Chronic sleep deprivation markedly reduces coagulation factor VII expression

Circadian Rhythms in Mouse Blood Coagulation

Coagulation factor VII variants resistant to inhibitory antibodies

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.

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

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

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

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

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

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

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

Functional genetics.

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

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

Inhibitors to factor VII in congenital factor VII deficiency.

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

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

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

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

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

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

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

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

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

Mutation pattern in clinically asymptomatic coagulation factor VII deficiency

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

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

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

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

RNA‐based therapeutic approaches for coagulation factor deficiencies ⬇️

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

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

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

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

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

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

The factor V Glu1608Lys mutation is recurrent in familial thrombophilia.

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

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

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