2020
Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization
Maulding ND, Kavanagh D, Zimmerman K, Coppola G, Carpenter TO, Jue NK, Braddock DT. Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization. Bone 2020, 142: 115656. PMID: 32980560, PMCID: PMC7744330, DOI: 10.1016/j.bone.2020.115656.Peer-Reviewed Original ResearchConceptsGenetic pathwaysSkeletal phenotypeGene expressionHuman disease phenotypesAsj/Suppression of WntTranscript countsGene transcriptionENPP1-deficient miceGene pathwaysEnzyme functionENPP1 deficiencyWnt ligandsSoluble Wnt inhibitorsWnt activityReduced gene transcriptionBiomechanical phenotypeTranscriptionWnt inhibitorsBone findingsUnbiased analysisDisease phenotypePhenotypeOld miceStrong signature
2015
Genetics of Tourette Syndrome
Lennington J, Coppola G, Fernandez T. Genetics of Tourette Syndrome. 2015, 169-189. DOI: 10.1007/978-3-319-17223-1_9.ChaptersGene networksBiological pathwaysGenetic variantsStructural genetic variantsTranscriptomic variationReplication of associationBioinformatics analysisRecent profilingSubstantial genetic contributionMultiple genesCandidate genesGene expressionComplex neuropsychiatric disorderGenesGenetic contributionRare mutationsGenetic etiologyStructural variationsPathwayRare sequencesEnvironmental factorsNeuropsychiatric disordersDevelopmental neuropsychiatric disordersTS casesGenetics