Lista de obras -

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 6-amino acid insertion/deletion polymorphism in the mucin domain of TIM-1 confers protections against HIV-1 infection.

artículo científico publicado en 2016

A CAV3 microdeletion differentially affects skeletal muscle and myocardium

artículo científico publicado en 2003

A CAV3 microdeletion differentially affects skeletal muscle and myocardium

artículo científico publicado en 2004

A Common Polymorphism in TLR3 Confers Natural Resistance to HIV-1 Infection

article

A common genetic variant in FOXP2 is associated with language-based learning (dis)abilities: Evidence from two Italian independent samples

artículo científico publicado en 2017

A complex selection signature at the human AVPR1B gene

artículo científico publicado en 2009

A functional variant in ERAP1 predisposes to multiple sclerosis

artículo científico publicado en 2012

A nonsense polymorphism (R392X) in TLR5 protects from obesity but predisposes to diabetes

artículo científico publicado en 2013

A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype

artículo científico publicado en 2001

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 regulatory polymorphism in HAVCR2 modulates susceptibility to HIV-1 infection

artículo científico publicado en 2014

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

ABO histo-blood group might modulate predisposition to Crohn's disease and affect disease behavior.

artículo científico publicado en 2013

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 RAC2 identifies haplotypes associated with human autoimmune diseases.

artículo científico publicado en 2011

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

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype

artículo científico publicado en 2004

Analysis of Reptarenavirus genomes indicates different selective forces acting on the S and L segments and recent expansion of common genotypes

scholarly article by Chiara Pontremoli published in October 2018

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

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

Calpain 3 deficiency in Quail Eater's disease

artículo científico publicado en 2003

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

artículo científico publicado en 2008

Coding potential and sequence conservation of SARS-CoV-2 and related animal viruses

artículo científico publicado en 2020

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

artículo científico publicado el 1 de mayo de 2003

Computational inference of selection underlying the evolution of the novel coronavirus, SARS-CoV-2

scientific article published on 01 April 2020

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.

artículo científico publicado en 2006

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

artículo científico publicado en 2015

Endoplasmic reticulum aminopeptidase 2 haplotypes play a role in modulating susceptibility to HIV infection.

artículo científico publicado en 2013

Evolution and Genetic Diversity of Primate Cytomegaloviruses

artículo científico publicado en 2020

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 insights into host-pathogen interactions from mammalian sequence data.

artículo científico publicado en 2015

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

Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence

artículo científico publicado en 2010

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

artículo científico publicado en 2005

G.P.13.04 Genetic and ultrastructural findings in Selenoprotein N1-related congenital myopathies

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 conflicts with Plasmodium parasites and functional constraints shape the evolution of erythrocyte cytoskeletal proteins

artículo científico publicado en 2018

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

article

Genetic variability at the TREX1 locus is not 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

Homology‐based classification of accessory proteins in coronavirus genomes uncovers extremely dynamic evolution of gene content

artículo científico publicado en 2022

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

artículo científico publicado en 2011

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

Mode and tempo of human hepatitis virus evolution

artículo científico publicado en 2019

Molecular Evolution of Human Coronavirus Genomes.

artículo científico publicado en 2016

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

artículo científico publicado en 2003

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

artículo científico publicado en 2018

Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation

artículo científico publicado en 2009

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

artículo científico publicado en 2015

New molecular findings in congenital myopathies due to selenoprotein N gene mutations.

artículo científico publicado en 2011

No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis

scientific article published on 16 April 2014

Nonstructural Proteins Are Preferential Positive Selection Targets in Zika Virus and Related Flaviviruses

artículo científico publicado en 2016

OASes and STING: adaptive evolution in concert

artículo científico publicado en 2015

Origin and dispersal of Hepatitis E virus

artículo científico publicado en 2018

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

article

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

Pathogen-driven selection in the human genome

artículo científico publicado en 2013

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

Possible European Origin of Circulating Varicella Zoster Virus Strains

artículo científico publicado en 2020

Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

artículo científico publicado en 2001

REST, a master regulator of neurogenesis, evolved under strong positive selection in humans and in non human primates.

artículo científico

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

artículo científico publicado en 2013

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

Silencer elements as possible inhibitors of pseudoexon splicing

artículo científico publicado en 2004

Strategy of Human Cytomegalovirus To Escape Interferon Beta-Induced APOBEC3G Editing Activity

scientific article published on 12 September 2018

Susceptibility to type 2 diabetes may be modulated by haplotypes in G6PC2, a target of positive selection.

artículo científico publicado en 2017

TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis.

artículo científico publicado en 2017

The CCR5Δ32 allele is not a major predisposing factor for severe H1N1pdm09 infection.

artículo científico publicado en 2014

The Diversity of Mammalian Hemoproteins and Microbial Heme Scavengers Is Shaped by an Arms Race for Iron Piracy

artículo científico publicado en 2018

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 influence of DCDC2 risk genetic variants on reading: Testing main and haplotypic effects

artículo científico publicado en 2018

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

Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle.

artículo científico publicado en 2001

Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.

artículo científico publicado en 2003

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

artículo científico publicado en 2011

Variants in the CYP7B1 gene region do not affect natural resistance to HIV-1 infection.

artículo científico publicado en 2015

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

artículo científico publicado en 2008

Xotx1 maternal transcripts are vegetally localized in Xenopus laevis oocytes

artículo científico publicado en 2000

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

scientific article published on 01 February 2020

Lista de obras de

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

A 6-amino acid insertion/deletion polymorphism in the mucin domain of TIM-1 confers protections against HIV-1 infection.

A CAV3 microdeletion differentially affects skeletal muscle and myocardium

A CAV3 microdeletion differentially affects skeletal muscle and myocardium

A Common Polymorphism in TLR3 Confers Natural Resistance to HIV-1 Infection

A common genetic variant in FOXP2 is associated with language-based learning (dis)abilities: Evidence from two Italian independent samples

A complex selection signature at the human AVPR1B gene

A functional variant in ERAP1 predisposes to multiple sclerosis

A nonsense polymorphism (R392X) in TLR5 protects from obesity but predisposes to diabetes

A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype

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 regulatory polymorphism in HAVCR2 modulates susceptibility to HIV-1 infection

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

ABO histo-blood group might modulate predisposition to Crohn's disease and affect disease behavior.

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 RAC2 identifies haplotypes associated with human autoimmune diseases.

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

An evolutionary history of the selectin gene cluster in humans.

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype

Analysis of Reptarenavirus genomes indicates different selective forces acting on the S and L segments and recent expansion of common genotypes

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

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

Calpain 3 deficiency in Quail Eater's disease

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

Coding potential and sequence conservation of SARS-CoV-2 and related animal viruses

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

Computational inference of selection underlying the evolution of the novel coronavirus, SARS-CoV-2

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.

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

Endoplasmic reticulum aminopeptidase 2 haplotypes play a role in modulating susceptibility to HIV infection.

Evolution and Genetic Diversity of Primate Cytomegaloviruses

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 insights into host-pathogen interactions from mammalian sequence data.

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

Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence

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

G.P.13.04 Genetic and ultrastructural findings in Selenoprotein N1-related congenital myopathies

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 conflicts with Plasmodium parasites and functional constraints shape the evolution of erythrocyte cytoskeletal proteins

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

Genetic variability at the TREX1 locus is not 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

Homology‐based classification of accessory proteins in coronavirus genomes uncovers extremely dynamic evolution of gene content

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

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

Mode and tempo of human hepatitis virus evolution

Molecular Evolution of Human Coronavirus Genomes.

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

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

Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation

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

New molecular findings in congenital myopathies due to selenoprotein N gene mutations.

No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis

Nonstructural Proteins Are Preferential Positive Selection Targets in Zika Virus and Related Flaviviruses

OASes and STING: adaptive evolution in concert

Origin and dispersal of Hepatitis E virus

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

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