Results
author = "BRESOLIN, NEREO"
Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving
Author(s) :
COMI, GIACOMO PIETRO
,
BRESOLIN, NEREO
,
CLERICI, MARIO SALVATORE
,
CAGLIANI, RACHELE ANGELA
,
SIRONI, MANUELA
Description :
Abstract: Background: Several susceptibility genetic variants for autoimmune diseases have been identified. A subset of these polymorphisms displays an opposite risk profile in different autoimmune conditions. This observation open interesting questions on the evolutionary forces shaping the frequen...
Repository :
AIR - Archivio Istituzionale della Ricerca
Language(s) :
English
Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving
Author(s) :
Cagliani Rachele
,
Riva Stefania
,
Pozzoli Uberto
,
Fumagalli Matteo
,
Comi Giacomo P
,
Bresolin Nereo
,
Clerici Mario
Description :
Abstract
Background
Several susceptibility genetic variants for autoimmune diseases have been identified. A subset of these polymorphisms displays an opposite risk profile in different autoimmune conditions. This observation open interesting questions on the evolutionary forces shap...
Repository :
DOAJ-Articles
Language(s) :
English
Comparative Analysis of Vertebrate Dystrophin Loci Indicate Intron Gigantism as a Common Feature
Author(s) :
Pozzoli, Uberto
,
Elgar, Greg
,
Cagliani, Rachele
,
Riva, Laura
,
Comi, Giacomo P.
,
Bresolin, Nereo
,
Bardoni, Alessandra
Description :
The human DMD gene is the largest known to date, spanning > 2000 kb on the X chromosome. The gene size is mainly accounted for by huge intronic regions. We sequenced 190 kb of Fugu rubripes (pufferfish) genomic DNA corresponding to the complete dystrophin gene (FrDMD) and provide the first report of...
Repository :
Europe PubMed Central
Language(s) :
English
The signature of long-standing balancing selection at the human defensin β-1 promoter
Author(s) :
Cagliani, Rachele
,
Fumagalli, Matteo
,
Riva, Stefania
,
Pozzoli, Uberto
,
Comi, Giacomo P
,
Menozzi, Giorgia
,
Bresolin, Nereo
Description :
Analysis of the human beta defensin 1 promoter region in six human populations reveals a signature of balancing selection.
Repository :
Europe PubMed Central
Language(s) :
English
Silencer elements as possible inhibitors of pseudoexon splicing
Author(s) :
Sironi, Manuela
,
Menozzi, Giorgia
,
Riva, Laura
,
Cagliani, Rachele
,
Comi, Giacomo P.
,
Bresolin, Nereo
,
Giorda, Roberto
Description :
Human pre-mRNAs contain a definite number of exons and several pseudoexons which are located within intronic regions. We applied a computational approach to address the question of how pseudoexons are neglected in favor of exons and to possibly identify sequence elements preventing pseudoexon splici...
Repository :
Europe PubMed Central
Language(s) :
English
Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy
Author(s) :
Lerario, Alberto
,
Cogiamanian, Filippo
,
Marchesi, Chiara
,
Belicchi, Marzia
,
Bresolin, Nereo
,
Porretti, Laura
,
Torrente, Yvan
Description :
Repository :
Europe PubMed Central
Language(s) :
English
Widespread balancing selection and pathogen-driven selection at blood group antigen genes
Author(s) :
Fumagalli, Matteo
,
Cagliani, Rachele
,
Pozzoli, Uberto
,
Riva, Stefania
,
Comi, Giacomo P.
,
Menozzi, Giorgia
,
Bresolin, Nereo
Description :
Historically, allelic variations in blood group antigen (BGA) genes have been regarded as possible susceptibility factors for infectious diseases. Since host–pathogen interactions are major determinants in evolution, BGAs can be thought of as selection targets. In order to verify this hypothesis, we...
Repository :
Europe PubMed Central
Language(s) :
English
A complex selection signature at the human AVPR1B gene
Author(s) :
Cagliani, Rachele
,
Fumagalli, Matteo
,
Pozzoli, Uberto
,
Riva, Stefania
,
Cereda, Matteo
,
Comi, Giacomo P
,
Pattini, Linda
Description :
Repository :
Europe PubMed Central
Language(s) :
English
Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions
Author(s) :
Fumagalli, Matteo
,
Pozzoli, Uberto
,
Cagliani, Rachele
,
Comi, Giacomo P.
,
Riva, Stefania
,
Clerici, Mario
,
Bresolin, Nereo
Description :
Many human genes have adapted to the constant threat of exposure to infectious agents; according to the “hygiene hypothesis,” lack of exposure to parasites in modern settings results in immune imbalances, augmenting susceptibility to the development of autoimmune and allergic conditions. Here, by es...
Repository :
Europe PubMed Central
Language(s) :
English
Genome-Wide Identification of Susceptibility Alleles for Viral Infections through a Population Genetics Approach
Author(s) :
Fumagalli, Matteo
,
Pozzoli, Uberto
,
Cagliani, Rachele
,
Comi, Giacomo P.
,
Bresolin, Nereo
,
Clerici, Mario
,
Sironi, Manuela
Description :
Viruses have exerted a constant and potent selective pressure on human genes throughout evolution. We utilized the marks left by selection on allele frequency to identify viral infection-associated allelic variants. Virus diversity (the number of different viruses in a geographic region) was used to...
Repository :
Europe PubMed Central
Language(s) :
English