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List of works by Rachele Cagliani

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

scientific article published on 23 May 2013

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

scientific article

A CAV3 microdeletion differentially affects skeletal muscle and myocardium

scientific article

A CAV3 microdeletion differentially affects skeletal muscle and myocardium

scientific article published on 12 July 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

scientific article published on 24 April 2017

A complex selection signature at the human AVPR1B gene

scientific article

A functional variant in ERAP1 predisposes to multiple sclerosis

scientific article

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

scientific article

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

scientific article published on 01 March 2001

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

scientific article published on 13 August 2009

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

scientific article

A regulatory polymorphism in HAVCR2 modulates susceptibility to HIV-1 infection

scientific article

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

scientific article published on 6 January 2012

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

scientific article

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

scientific article published on 24 June 2021

Albuminoid genes: evolving at the interface of dispensability and selection

scientific article

An evolutionary analysis of RAC2 identifies haplotypes associated with human autoimmune diseases.

scientific article published on 16 June 2011

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

scientific article

An evolutionary history of the selectin gene cluster in humans.

scientific article

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

scientific article

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.

scientific article published in March 2018

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

scientific article

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

scientific article published on 02 December 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

scientific article

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

scientific article

Calpain 3 deficiency in Quail Eater's disease

scientific article published in 2003

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

scientific article published in February 2008

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

scientific article published on 05 May 2020

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

scientific article published on May 1, 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.

scientific article published on 4 January 2006

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

scientific article published on 6 February 2013

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

scientific article

Diverse evolutionary histories for beta-adrenoreceptor genes in humans

scientific article published on 02 July 2009

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

scientific article published on January 2015

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

scientific article

Evolution and Genetic Diversity of Primate Cytomegaloviruses

scientific article published on 25 April 2020

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

scientific article

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

scientific article published on 14 June 2014

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

scientific article published on 5 August 2017

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

scientific article published on 16 March 2013

Evolutionary insights into host-pathogen interactions from mammalian sequence data.

scientific article

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

scientific article published on 20 January 2016

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

scientific article published on 6 April 2010

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

scientific article published in September 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

scientific article (publication date: 2006)

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

scientific article

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

scientific article published in Scientific Reports

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

scientific article

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

scientific article (publication date: 19 February 2010)

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

scientific article published in 2022

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

scientific article

Intron size in mammals: complexity comes to terms with economy

scientific article published on 30 October 2006

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

scientific article

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

scientific article published on 2 September 2010

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

scientific article

Mode and tempo of human hepatitis virus evolution

scientific article published on 25 October 2019

Molecular Evolution of Human Coronavirus Genomes.

scientific article

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

scientific article (publication date: December 2003)

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

scientific article

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

scientific article published on 25 July 2009

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

scientific article published on 28 August 2015

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

scientific article published in January 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

scientific article

OASes and STING: adaptive evolution in concert

scientific article published on 9 March 2015

Origin and dispersal of Hepatitis E virus

scientific article

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

scientific article

Past and ongoing adaptation of human cytomegalovirus to its host

scientific article published on 08 May 2020

Pathogen-driven selection in the human genome

scientific article

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

scientific article published on 10 June 2010

Positive Selection Drives Evolution at the Host-Filovirus Interaction Surface

scientific article published on 10 August 2016

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

scientific article published on 24 August 2015

Possible European Origin of Circulating Varicella Zoster Virus Strains

scientific article published on 01 March 2020

Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

scientific article published on 01 May 2001

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

scientific article published on 25 August 2017

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

scientific article published on 7 November 2013

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

scientific article published on 09 January 2020

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

scientific article

Response to Wilson et al

Silencer elements as possible inhibitors of pseudoexon splicing

scientific article

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.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 11 September 2018

The dystrophin gene is alternatively spliced throughout its coding sequence.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 24 May 2018

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

scientific article published on August 31, 2010

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

scientific article published on 2 February 2016

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

scientific article published on 25 January 2010

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

scientific article published on 25 September 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.

scientific article published in May 2001

Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.

scientific article published in January 2003

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

scientific article

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

scientific article

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

scientific article

Xotx1 maternal transcripts are vegetally localized in Xenopus laevis oocytes

scientific article published in January 2000

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

scientific article published on 01 February 2020

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