2016
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay.
Polimanti R, Squitti R, Pantaleo M, Giglio S, Zito G. Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay. Minerva Pediatrica 2016, 69: 162-164. PMID: 27215640, DOI: 10.23736/s0026-4946.16.04326-7.Peer-Reviewed Original Research
2013
Intronic rs2147363 Variant in ATP7B Transcription Factor-Binding Site Associated with Alzheimer's Disease
Bucossi S, Polimanti R, Ventriglia M, Mariani S, Siotto M, Ursini F, Trotta L, Scrascia F, Callea A, Vernieri F, Squitti R. Intronic rs2147363 Variant in ATP7B Transcription Factor-Binding Site Associated with Alzheimer's Disease. Journal Of Alzheimer's Disease 2013, 37: 453-459. PMID: 23948886, DOI: 10.3233/jad-130431.Peer-Reviewed Original ResearchConceptsLinkage disequilibriumDisease-causing variantsCis-regulatory elementsNon-coding regionsObserved genetic associationIntronic single nucleotide polymorphismSingle nucleotide polymorphismsTranscription factorsGenetic variationATP7B variantsSilico analysisRegulatory functionsLD analysisNucleotide polymorphismsGenetic associationSites AssociatedAlzheimer's diseaseAD riskKey roleVariantsATP7B gene