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
In silico analysis of TTR gene (coding and non-coding regions, and interactive network) and its implications in transthyretin-related amyloidosis
Polimanti R, Di Girolamo M, Manfellotto D, Fuciarelli M. In silico analysis of TTR gene (coding and non-coding regions, and interactive network) and its implications in transthyretin-related amyloidosis. Amyloid 2014, 21: 154-162. PMID: 24779883, DOI: 10.3109/13506129.2014.900487.Peer-Reviewed Original Research