2020
Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis
De Lillo A, Pathak GA, De Angelis F, Di Girolamo M, Luigetti M, Sabatelli M, Perfetto F, Frusconi S, Manfellotto D, Fuciarelli M, Polimanti R. Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis. Clinical Epigenetics 2020, 12: 176. PMID: 33203445, PMCID: PMC7672937, DOI: 10.1186/s13148-020-00967-6.Peer-Reviewed Original ResearchConceptsEpigenome-wide association studiesMethylation sitesEpigenetic differencesSignificant epigenetic differencesProtein interaction networksSignificant methylation changesAmyloidogenic mutationsDisease-causing mutationsProtein interactorsEpigenetic regulationHigh phenotypic variabilityEpigenetic profilingMethylation changesInteraction networksGene regionBiological processesMolecular mechanismsAssociation studiesMolecular pathwaysCoding mutationsPhenotypic variabilityNovel insightsGenesFiber formationMutations
2014
Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation
Iorio A, De Angelis F, Di Girolamo M, Luigetti M, Pradotto L, Mauro A, Manfellotto D, Fuciarelli M, Polimanti R. Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation. Amyloid 2014, 22: 73-78. PMID: 25510352, DOI: 10.3109/13506129.2014.994597.Peer-Reviewed Original ResearchConceptsMost recent common ancestorNon-coding regionsRecent common ancestorAge of originPhenotypic heterogeneityGenetic diversityCommon ancestorPhenotypic variationIndependent originsGenetic evidenceMultiple founder mutationsMicrosatellite markersGenetic analysisGenetic relationshipsGenotype-phenotype correlationAmyloidogenic TTR mutationsPhenotypic variabilityMutationsHuman populationWorldwide distributionPotential roleTTR geneAutosomal transmissionFounder mutationDifferent origins