Lista de obras - Uberto Pozzoli - Dominio Público Uruguay

A 175 million year history of T cell regulatory molecules reveals widespread selection, with adaptive evolution of disease alleles.

artículo científico publicado en 2013

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

artículo científico publicado en 2008

A complex selection signature at the human AVPR1B gene

artículo científico publicado en 2009

A population genetics study of the familial Mediterranean fever gene: evidence of balancing selection under an overdominance regime

artículo científico publicado en 2009

A positively selected APOBEC3H haplotype is associated with natural resistance to HIV-1 infection.

artículo científico publicado en 2011

A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast

artículo científico publicado en 2006

A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis.

artículo científico publicado en 2012

Adaptation of the endemic coronaviruses HCoV-OC43 and HCoV-229E to the human host

artículo científico publicado en 2021

Albuminoid genes: evolving at the interface of dispensability and selection

artículo científico publicado en 2014

An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection

artículo científico publicado en 2014

An evolutionary history of the selectin gene cluster in humans.

artículo científico publicado en 2012

Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences

article

Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms

article

Ancient Evolution of Mammarenaviruses: Adaptation via Changes in the L Protein and No Evidence for Host-Virus Codivergence.

artículo científico publicado en 2018

Ancient and recent selective pressures shaped genetic diversity at AIM2-like nucleic acid sensors.

artículo científico publicado en 2014

Antigenic variation of SARS-CoV-2 in response to immune pressure

artículo científico publicado en 2020

Arousal effect on emotional face comprehension: frequency band changes in different time intervals

artículo científico publicado en 2009

Balancing selection in the extended MHC region maintains a subset of alleles with opposite risk profile for different autoimmune diseases

Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving

artículo científico publicado en 2011

Both selective and neutral processes drive GC content evolution in the human genome

artículo científico publicado en 2008

Comparative Analysis of Vertebrate Dystrophin Loci Indicate Intron Gigantism as a Common Feature ⬇️

artículo científico publicado el 1 de mayo de 2003

Crohn's disease loci are common targets of protozoa-driven selection

artículo científico publicado en 2013

Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders

artículo científico publicado en 2017

Diverse evolutionary histories for beta-adrenoreceptor genes in humans

artículo científico publicado en 2009

Diverse functions of myosin VI elucidated by an isoform-specific α-helix domain

artículo científico publicado en 2016

Diverse selective regimes shape genetic diversity at ADAR genes and at their coding targets

artículo científico publicado en 2015

Effect of the catechol-O-methyltransferase val(158)met genotype on children's early phases of facial stimuli processing.

artículo científico publicado en 2006

Electrophysiological analysis of cognitive slowing in subjects with mitochondrial encephalomyopathy

scientific article published on 01 February 2002

Event-related oscillations (ERO) and event-related potentials (ERP) in emotional face recognition

artículo científico publicado en 2008

Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome.

artículo científico publicado en 1999

Evolutionary Analysis Provides Insight Into the Origin and Adaptation of HCV.

artículo científico publicado en 2018

Evolutionary analysis identifies an MX2 haplotype associated with natural resistance to HIV-1 infection.

artículo científico publicado en 2014

Evolutionary analysis of Old World arenaviruses reveals a major adaptive contribution of the viral polymerase.

artículo científico publicado en 2017

Evolutionary analysis of the contact system indicates that kininogen evolved adaptively in mammals and in human populations

artículo científico publicado en 2013

Evolutionary rates of mammalian telomere-stability genes correlate with karyotype features and female germline expression

article

Extensive Positive Selection Drives the Evolution of Nonstructural Proteins in Lineage C Betacoronaviruses

artículo científico publicado en 2016

Face-selective processing and the effect of pleasant and unpleasant emotional expressions on ERP correlates

artículo científico publicado en 2003

Fixation of conserved sequences shapes human intron size and influences transposon-insertion dynamics

artículo científico publicado en 2005

From early stress to 12-month development in very preterm infants: Preliminary findings on epigenetic mechanisms and brain growth.

artículo científico publicado en 2018

GeCo++: a C++ library for genomic features computation and annotation in the presence of variants

artículo científico publicado en 2011

Gene function and expression level influence the insertion/fixation dynamics of distinct transposon families in mammalian introns

artículo científico publicado en 2006

Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders

artículo científico publicado en 2014

Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection

article

Genetic variability in the ACE gene region surrounding the Alu I/D polymorphism is maintained by balancing selection in human populations

artículo científico publicado en 2010

Genome-wide identification of susceptibility alleles for viral infections through a population genetics approach

artículo científico publicado en 2010

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis.

artículo científico publicado en 2011

Influence of the serotonin transporter promoter gene and shyness on children's cerebral responses to facial expressions

artículo científico publicado en 2005

Intron size in mammals: complexity comes to terms with economy

artículo científico publicado en 2006

Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease.

artículo científico publicado en 2013

Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene

artículo científico publicado en 2010

Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes

artículo científico publicado en 2012

Maternal Sensitivity Buffers the Association between SLC6A4 Methylation and Socio-Emotional Stress Response in 3-Month-Old Full Term, but not very Preterm Infants

artículo científico publicado en 2017

Morphed facial expressions elicited a N400 ERP effect: a domain-specific semantic module?

artículo científico

Multiple Selected Changes May Modulate the Molecular Interaction between Laverania RH5 and Primate Basigin.

artículo científico publicado en 2018

N400 and P600 or the role of the ERP correlates in sentence comprehension: some applications to the Italian language.

artículo científico

Natural Selection at the Brush-Border: Adaptations to Carbohydrate Diets in Humans and Other Mammals.

artículo científico publicado en 2015

OASes and STING: adaptive evolution in concert

artículo científico publicado en 2015

Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing

article

Pain exposure associates with telomere length erosion in very preterm infants

artículo científico publicado en 2018

Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions

artículo científico publicado en 2009

Past and ongoing adaptation of human cytomegalovirus to its host

scientific article published on 08 May 2020

Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries.

artículo científico publicado en 2011

Polymorphisms in the CPB2 Gene Are Maintained by Balancing Selection and Result in Haplotype-Preferential Splicing of Exon 7

article

Population genetics of IFIH1: ancient population structure, local selection, and implications for susceptibility to type 1 diabetes

artículo científico publicado en 2010

Positive Selection Drives Evolution at the Host-Filovirus Interaction Surface

artículo científico publicado en 2016

Positive selection underlies the species-specific binding of Plasmodium falciparum RH5 to human basigin.

artículo científico publicado en 2015

RIG-I-like receptors evolved adaptively in mammals, with parallel evolution at LGP2 and RIG-I.

artículo científico publicado en 2013

RNAmotifs: prediction of multivalent RNA motifs that control alternative splicing

artículo científico publicado en 2014

Recent Out-of-Africa Migration of Human Herpes Simplex Viruses

artículo científico publicado en 2020

Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot

artículo científico publicado en 2002

Response to Wilson et al

SLC6A4 promoter region methylation and socio-emotional stress response in very preterm and full-term infants

artículo científico publicado en 2016

Sequence learning in cerebral palsy

artículo científico publicado en 2011

Serotonin Transporter Gene (SLC6A4 ) Methylation Associates With Neonatal Intensive Care Unit Stay and 3-Month-Old Temperament in Preterm Infants

article

Signatures of environmental genetic adaptation pinpoint pathogens as the main selective pressure through human evolution

artículo científico publicado en 2011

Silencer elements as possible inhibitors of pseudoexon splicing

artículo científico publicado en 2004

Silencers regulate both constitutive and alternative splicing events in mammals

artículo científico publicado en 2005

Skeletal muscle gene expression profiling in mitochondrial disorders.

artículo científico publicado en 2005

The dystrophin gene is alternatively spliced throughout its coding sequence.

artículo científico publicado en 2002

The evolutionary history of genes involved in spoken and written language: beyond FOXP2.

artículo científico publicado en 2016

The heptad repeat region is a major selection target in MERS-CoV and related coronaviruses.

artículo científico publicado en 2015

The landscape of human genes involved in the immune response to parasitic worms ⬇️

artículo científico publicado el 31 de agosto de 2010

The mammalian complement system as an epitome of host-pathogen genetic conflicts.

artículo científico publicado en 2016

The role of protozoa-driven selection in shaping human genetic variability

artículo científico publicado en 2010

The signature of long-standing balancing selection at the human defensin beta-1 promoter.

artículo científico publicado en 2008

Trans -acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles

article

Variants in SNAP25 are targets of natural selection and influence verbal performances in women.

artículo científico publicado en 2011

Wide and diffuse perceptual modes characterize dyslexics in vision and audition.

artículo científico publicado en 2008

Widespread balancing selection and pathogen-driven selection at blood group antigen genes

artículo científico publicado en 2008

You Will Never Walk Alone: Codispersal of JC Polyomavirus with Human Populations

scientific article published on 01 February 2020

Lista de obras de Uberto Pozzoli

A 175 million year history of T cell regulatory molecules reveals widespread selection, with adaptive evolution of disease alleles.

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

A complex selection signature at the human AVPR1B gene

A population genetics study of the familial Mediterranean fever gene: evidence of balancing selection under an overdominance regime

A positively selected APOBEC3H haplotype is associated with natural resistance to HIV-1 infection.

A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast

A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis.

Adaptation of the endemic coronaviruses HCoV-OC43 and HCoV-229E to the human host

Albuminoid genes: evolving at the interface of dispensability and selection

An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection

An evolutionary history of the selectin gene cluster in humans.

Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences

Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms

Ancient Evolution of Mammarenaviruses: Adaptation via Changes in the L Protein and No Evidence for Host-Virus Codivergence.

Ancient and recent selective pressures shaped genetic diversity at AIM2-like nucleic acid sensors.

Antigenic variation of SARS-CoV-2 in response to immune pressure

Arousal effect on emotional face comprehension: frequency band changes in different time intervals

Balancing selection in the extended MHC region maintains a subset of alleles with opposite risk profile for different autoimmune diseases

Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving

Both selective and neutral processes drive GC content evolution in the human genome

Comparative Analysis of Vertebrate Dystrophin Loci Indicate Intron Gigantism as a Common Feature ⬇️

Crohn's disease loci are common targets of protozoa-driven selection

Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders

Diverse evolutionary histories for beta-adrenoreceptor genes in humans

Diverse functions of myosin VI elucidated by an isoform-specific α-helix domain

Diverse selective regimes shape genetic diversity at ADAR genes and at their coding targets

Effect of the catechol-O-methyltransferase val(158)met genotype on children's early phases of facial stimuli processing.

Electrophysiological analysis of cognitive slowing in subjects with mitochondrial encephalomyopathy

Event-related oscillations (ERO) and event-related potentials (ERP) in emotional face recognition

Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome.

Evolutionary Analysis Provides Insight Into the Origin and Adaptation of HCV.

Evolutionary analysis identifies an MX2 haplotype associated with natural resistance to HIV-1 infection.

Evolutionary analysis of Old World arenaviruses reveals a major adaptive contribution of the viral polymerase.

Evolutionary analysis of the contact system indicates that kininogen evolved adaptively in mammals and in human populations

Evolutionary rates of mammalian telomere-stability genes correlate with karyotype features and female germline expression

Extensive Positive Selection Drives the Evolution of Nonstructural Proteins in Lineage C Betacoronaviruses

Face-selective processing and the effect of pleasant and unpleasant emotional expressions on ERP correlates

Fixation of conserved sequences shapes human intron size and influences transposon-insertion dynamics

From early stress to 12-month development in very preterm infants: Preliminary findings on epigenetic mechanisms and brain growth.

GeCo++: a C++ library for genomic features computation and annotation in the presence of variants

Gene function and expression level influence the insertion/fixation dynamics of distinct transposon families in mammalian introns

Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders

Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection

Genetic variability in the ACE gene region surrounding the Alu I/D polymorphism is maintained by balancing selection in human populations

Genome-wide identification of susceptibility alleles for viral infections through a population genetics approach

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis.

Influence of the serotonin transporter promoter gene and shyness on children's cerebral responses to facial expressions

Intron size in mammals: complexity comes to terms with economy

Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease.

Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene

Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes

Maternal Sensitivity Buffers the Association between SLC6A4 Methylation and Socio-Emotional Stress Response in 3-Month-Old Full Term, but not very Preterm Infants

Morphed facial expressions elicited a N400 ERP effect: a domain-specific semantic module?

Multiple Selected Changes May Modulate the Molecular Interaction between Laverania RH5 and Primate Basigin.

N400 and P600 or the role of the ERP correlates in sentence comprehension: some applications to the Italian language.

Natural Selection at the Brush-Border: Adaptations to Carbohydrate Diets in Humans and Other Mammals.

OASes and STING: adaptive evolution in concert

Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing

Pain exposure associates with telomere length erosion in very preterm infants

Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions

Past and ongoing adaptation of human cytomegalovirus to its host

Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries.

Polymorphisms in the CPB2 Gene Are Maintained by Balancing Selection and Result in Haplotype-Preferential Splicing of Exon 7

Population genetics of IFIH1: ancient population structure, local selection, and implications for susceptibility to type 1 diabetes

Positive Selection Drives Evolution at the Host-Filovirus Interaction Surface

Positive selection underlies the species-specific binding of Plasmodium falciparum RH5 to human basigin.

RIG-I-like receptors evolved adaptively in mammals, with parallel evolution at LGP2 and RIG-I.

RNAmotifs: prediction of multivalent RNA motifs that control alternative splicing

Recent Out-of-Africa Migration of Human Herpes Simplex Viruses

Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot

Response to Wilson et al

SLC6A4 promoter region methylation and socio-emotional stress response in very preterm and full-term infants

Sequence learning in cerebral palsy

Serotonin Transporter Gene (SLC6A4 ) Methylation Associates With Neonatal Intensive Care Unit Stay and 3-Month-Old Temperament in Preterm Infants

Signatures of environmental genetic adaptation pinpoint pathogens as the main selective pressure through human evolution

Silencer elements as possible inhibitors of pseudoexon splicing

Silencers regulate both constitutive and alternative splicing events in mammals

Skeletal muscle gene expression profiling in mitochondrial disorders.

The dystrophin gene is alternatively spliced throughout its coding sequence.