Lista de obras - Alessio Branchini - Dominio Público Uruguay

A recoded view on the F9 p.Cys178Ter pathogenic mechanism

artículo científico publicado en 2020

Activated factor VII-antithrombin complex predicts mortality in patients with stable coronary artery disease: a cohort study.

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

artículo científico publicado en 2019

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

artículo científico publicado en 2020

An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes

artículo científico publicado en 2016

Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation.

artículo científico publicado en 2015

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

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity

artículo científico publicado en 2017

Coagulation factor VII variants resistant to inhibitory antibodies

artículo científico publicado en 2014

Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency.

artículo científico publicado en 2016

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

scientific article published on 19 November 2018

Factor II activity is similarly increased in patients with elevated apolipoprotein CIII and in carriers of the factor II 20210A allele

artículo científico publicado en 2013

Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates

scientific article published on 29 May 2019

Hard surface biocontrol in hospitals using microbial-based cleaning products

artículo científico publicado en 2014

Impact of a Probiotic-Based Cleaning Intervention on the Microbiota Ecosystem of the Hospital Surfaces: Focus on the Resistome Remodulation

artículo científico publicado en 2016

Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition

artículo científico publicado en 2019

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

artículo científico publicado en 2020

Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies

artículo científico publicado en 2019

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

artículo científico publicado el 16 de diciembre de 2011

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B.

artículo científico publicado en 2018

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations

artículo científico publicado en 2017

Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts

artículo científico publicado en 2019

The carboxyl-terminal region is NOT essential for secreted and functional levels of coagulation factor X.

artículo científico publicado en 2015

The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies

scientific article published on 09 November 2018

The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation

artículo científico publicado en 2018

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

Lista de obras de Alessio Branchini

A recoded view on the F9 p.Cys178Ter pathogenic mechanism

Activated factor VII-antithrombin complex predicts mortality in patients with stable coronary artery disease: a cohort study.

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 Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

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

An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes

Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation.

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

Chronic sleep deprivation markedly reduces coagulation factor VII expression

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity

Coagulation factor VII variants resistant to inhibitory antibodies

Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency.

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

Factor II activity is similarly increased in patients with elevated apolipoprotein CIII and in carriers of the factor II 20210A allele

Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates

Hard surface biocontrol in hospitals using microbial-based cleaning products

Impact of a Probiotic-Based Cleaning Intervention on the Microbiota Ecosystem of the Hospital Surfaces: Focus on the Resistome Remodulation

Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition

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

Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies

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

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B.

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations

Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts

The carboxyl-terminal region is NOT essential for secreted and functional levels of coagulation factor X.

The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies

The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation

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