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
2012
GSTO2*N142D gene polymorphism associated with hypothyroidism in Italian patients
Piacentini S, Monaci PM, Polimanti R, Manfellotto D, Fuciarelli M. GSTO2*N142D gene polymorphism associated with hypothyroidism in Italian patients. Molecular Biology Reports 2012, 40: 1967-1971. PMID: 23079717, DOI: 10.1007/s11033-012-2253-0.Peer-Reviewed Original ResearchConceptsGST gene polymorphismsGene polymorphismsOxidative stressItalian patientsGST null polymorphismsBiomarkers of inflammationAnti-inflammatory responseLevel of inflammationLogistic regression analysisThyroid hormone productionPhase II enzymesCase-control populationRisk factorsHypothyroid individualsEndocrinal diseasesInflammation disordersPCR-RFLP methodHypothyroidismNull polymorphismThyroid glandGenotype distributionHormone productionGlutathione S-transferaseInflammationPatients