2022
Phenome-wide association study of loci harboring de novo tandem repeat mutations in UK Biobank exomes
Wendt F, Pathak G, Polimanti R. Phenome-wide association study of loci harboring de novo tandem repeat mutations in UK Biobank exomes. Nature Communications 2022, 13: 7682. PMID: 36509785, PMCID: PMC9744822, DOI: 10.1038/s41467-022-35423-x.Peer-Reviewed Original ResearchConceptsProtein structureTandem repeatsTandem repeat mutationsPhenome-wide association studyAlters protein structureGenetic variationAssociation studiesEuropean ancestry participantsUK BiobankCarotid intima-media thicknessTR mutationsIntima-media thicknessMicroRNA-184Repeat mutationsFamily-based designsTestable hypothesesLociPopulation levelRespiratory outcomesMutationsDisease outcomeFAN1FNBP4Repeats
2013
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure
Squitti R, Siotto M, Bucossi S, Polimanti R. In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure. BioMetals 2013, 27: 53-64. PMID: 24253677, DOI: 10.1007/s10534-013-9686-3.Peer-Reviewed Original ResearchConceptsNon-synonymous substitutionsDisease-causing mutationsWilson disease-causing mutationsDisease-causing variantsUnknown gene variantsGenetic variantsProtein X-ray structuresSequence-based approachesCopper-transporting ATPaseNovel genetic variantsAmino acid changesUncharacterized proteinsProtein functionNovel ATP7B mutationsProtein domainsFunctional predictionCopper homeostasisBioinformatics methodsAmino acidic changeATP7B geneProtein structureAcid changesATP7B proteinGenesX-ray structure