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author = "BRESOLIN, NEREO" > : "MED/26 - Neurologia" (x)

Found 12 documents, displaying page 1 of 2

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

Description : BACKGROUND: More than 2 billion individuals worldwide suffer from helminth infections. The highest parasite burdens occur in children and helminth infection during pregnancy is a risk factor for preterm delivery and reduced birth weight. Therefore, helminth infections can be regarded as a strong sel...
Repository : AIR - Archivio Istituzionale della Ricerca
Language(s) : English

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

Description : Background. Duchenne and Becker Muscular dystrophies (DMD/BMD) are allelic disorders caused by mutations in the dystrophin gene, which encodes a sarcolemmal protein responsible for muscle integrity. Deletions and duplications account for approximately 75% of mutations in DMD and 85% in BMD. The imp...
Repository : AIR - Archivio Istituzionale della Ricerca
Language(s) : English

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

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 : AIR - Archivio Istituzionale della Ricerca
Language(s) : English

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

Description : Mammalian genomes consist of regions differing in GC content, referred to as isochores or GC-content domains. The scientific debate is still open as to whether such compositional heterogeneity is a selected or neutral trait. RESULTS: Here we analyze SNP allele frequencies, retrotransposon insertion ...
Repository : AIR - Archivio Istituzionale della Ricerca
Language(s) : English

Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion

Description : Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder caused by a CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene. We present a three first-degree relative Italian family (proband, his mother and his sister) with a mild DM2 phenotype associated wi...
Repository : AIR - Archivio Istituzionale della Ricerca
Language(s) : English

Found 12 documents, displaying page 1 of 2