Lista de obras - Stefano Duga - Dominio Público Uruguay

2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships.

artículo científico publicado en 2017

A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker

article

A new exon in the 5' untranslated region of the connexin32 gene

artículo científico publicado en 1999

A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency

artículo científico publicado en 2007

A novel fibrinogen gamma chain mutation (gamma 239 Gln-->His) is the cause of dysfibrinogenemia Vicenza

scientific article published on 01 March 2005

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

artículo científico publicado en 2011

A novel two base pair deletion in the factor V gene associated with severe factor V deficiency

article

A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease

scientific article published on 01 September 2020

A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency.

artículo científico publicado en 2005

ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy

artículo científico publicado en 2020

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

artículo científico publicado en 2021

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

artículo científico publicado en 2017

Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies

artículo científico publicado en 2010

Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia

article

Analysis of factor V in zebrafish demonstrates minimal levels needed for early hemostasis

scientific article published on 01 June 2019

Analysis of the 16S rRNA gene sequence of the coryneform bacterium associated with hyperkeratotic dermatitis of athymic nude mice and development of a PCR-based detection assay

artículo científico publicado en 1998

Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency

artículo científico publicado en 2009

Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein

artículo científico publicado en 2002

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease

artículo científico publicado en 2017

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

artículo científico publicado en 2014

Characterization of the genetic basis of FXI deficiency in two Turkish patients

artículo científico publicado en 2009

Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms

artículo científico publicado en 2001

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency

scientific article published on 27 November 2014

Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations

artículo científico publicado en 2003

Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions

article

Coagulation factor V.

artículo científico publicado en 2004

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

artículo científico publicado en 2016

Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency

article

Common variants in the haemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population

article

Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford

artículo científico publicado en 2000

Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta -chain gene causing activation of cryptic splice sites

article

Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene

artículo científico publicado en 2003

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAs

article

Congenital factor XI deficiency: an update.

artículo científico publicado en 2013

Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations

artículo científico publicado en 2008

Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations.

artículo científico publicado en 2015

Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion

artículo científico publicado en 2008

DNAJC12 and dopa-responsive nonprogressive parkinsonism

artículo científico publicado en 2017

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

artículo científico publicado en 2016

Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript

artículo científico publicado en 2013

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

artículo científico publicado en 2002

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

artículo científico publicado en 2013

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

artículo científico publicado en 2014

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

artículo científico publicado en 2014

Exploring the global landscape of genetic variation in coagulation factor XI deficiency.

artículo científico publicado en 2017

Factor XI Deficiency

artículo científico publicado en 2009

Factor XI gene mutations in factor XI deficient patients of the Czech Republic

artículo científico publicado en 2008

Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

article

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

artículo científico publicado en 2015

Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency

artículo científico publicado en 2011

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

artículo científico publicado en 2014

Genetic association and altered gene expression of mir-155 in multiple sclerosis patients

artículo científico publicado en 2011

Genetic diagnosis of haemophilia and other inherited bleeding disorders.

artículo científico publicado en 2006

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

artículo científico publicado en 2009

Glucocerebrosidase mutations in primary parkinsonism

artículo científico publicado en 2014

Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.

artículo científico publicado en 2015

Identification and spatial distribution of the mRNA encoding the gp49 component of the gilthead sea bream, Sparus aurata, egg envelope

artículo científico publicado en 1998

Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter.

artículo científico publicado en 1998

Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay

artículo científico publicado en 2014

Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein

artículo científico publicado en 2001

Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency.

artículo científico publicado en 2011

Impact of anti-androgenic therapies on COVID-19: an observational study in male population from a COVID-19 regional centre of Lombardy (Italy)

scientific article published on 24 April 2020

In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs

artículo científico publicado en 2005

Inactivating mutations in NPC1L1 and protection from coronary heart disease

artículo científico publicado en 2014

Inherited defects of coagulation factor V: the hemorrhagic side.

artículo científico publicado en 2006

LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population

artículo científico publicado en 2014

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

artículo científico publicado en 2010

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

scientific article published on 13 July 2020

Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen v

artículo científico publicado en 2005

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

artículo científico publicado en 2014

Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes.

artículo científico publicado en 2015

Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.

artículo científico publicado en 2000

Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia

artículo científico publicado en 2003

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation.

artículo científico publicado en 2015

Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA.

artículo científico publicado en 2009

Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient

artículo científico publicado en 2007

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.

artículo científico publicado en 2008

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect

artículo científico publicado en 2008

Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients.

artículo científico publicado en 2004

Molecular investigation of 41 patients affected by coagulation factor XI deficiency.

artículo científico publicado en 2017

Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy

artículo científico publicado en 2002

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene

artículo científico publicado en 2010

Mutations in disguise

scientific article published on 01 October 2011

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

artículo científico publicado en 2017

Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels

artículo científico publicado en 2016

Physical mapping of connexin 32 (GJB1) and 43 (GJA1) genes to bovine Chromosomes Xq22 and 9q15/16 by fluorescence in situ hybridization

artículo científico publicado en 1996

Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay

artículo científico publicado en 2009

Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease

artículo científico publicado en 2017

Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen ?-chain gene as a novel mechanism for congenital afibrinogenaemia

article

Rare coagulation deficiencies.

artículo científico publicado en 2002

Recessively inherited coagulation disorders.

artículo científico publicado en 2004

Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE

Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation

artículo científico publicado en 2004

SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population.

artículo científico publicado en 1999

Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain

article

Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations

artículo científico publicado en 2008

Sighting acute myocardial infarction through platelet gene expression

artículo científico publicado en 2019

Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians

article

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters

artículo científico publicado en 2016

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

artículo científico publicado en 2017

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction

artículo científico publicado en 2015

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

artículo científico publicado en 2015

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease

artículo científico publicado en 2012

The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis.

artículo científico publicado en 2017

The DNA-pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia

artículo científico publicado en 2005

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p

artículo científico publicado en 2017

The PDXK rs2010795 variant is not associated with Parkinson disease in Italy

artículo científico publicado en 2010

The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD

scientific article published on 20 October 2020

The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease

artículo científico publicado en 2010

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

artículo científico publicado en 2014

The molecular basis of quantitative fibrinogen disorders.

artículo científico publicado en 2006

The spectrum of factor XI deficiency in Italy.

artículo científico publicado en 2013

Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency

artículo científico publicado en 2019

Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.

artículo científico publicado en 2016

cDNA cloning of turtle prion protein

article

miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA.

artículo científico publicado en 2017

Lista de obras de Stefano Duga

2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships.

A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker

A new exon in the 5' untranslated region of the connexin32 gene

A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency

A novel fibrinogen gamma chain mutation (gamma 239 Gln-->His) is the cause of dysfibrinogenemia Vicenza

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

A novel two base pair deletion in the factor V gene associated with severe factor V deficiency

A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease

A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency.

ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies

Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia

Analysis of factor V in zebrafish demonstrates minimal levels needed for early hemostasis

Analysis of the 16S rRNA gene sequence of the coryneform bacterium associated with hyperkeratotic dermatitis of athymic nude mice and development of a PCR-based detection assay

Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency

Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

Characterization of the genetic basis of FXI deficiency in two Turkish patients

Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency

Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations

Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions

Coagulation factor V.

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency

Common variants in the haemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population

Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford

Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta -chain gene causing activation of cryptic splice sites

Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAs

Congenital factor XI deficiency: an update.

Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations

Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations.

Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion

DNAJC12 and dopa-responsive nonprogressive parkinsonism

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Exploring the global landscape of genetic variation in coagulation factor XI deficiency.

Factor XI Deficiency

Factor XI gene mutations in factor XI deficient patients of the Czech Republic

Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

Genetic association and altered gene expression of mir-155 in multiple sclerosis patients

Genetic diagnosis of haemophilia and other inherited bleeding disorders.

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Glucocerebrosidase mutations in primary parkinsonism

Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.

Identification and spatial distribution of the mRNA encoding the gp49 component of the gilthead sea bream, Sparus aurata, egg envelope

Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter.

Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay

Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein

Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency.

Impact of anti-androgenic therapies on COVID-19: an observational study in male population from a COVID-19 regional centre of Lombardy (Italy)

In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs

Inactivating mutations in NPC1L1 and protection from coronary heart disease

Inherited defects of coagulation factor V: the hemorrhagic side.

LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen v

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes.

Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.

Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation.

Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA.

Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect

Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients.