2023
Klotho Overexpression Is Frequently Associated With Upstream Rearrangements in Fusion-Negative Phosphaturic Mesenchymal Tumors of Bone and Sinonasal Tract
Lee J, Hsieh T, Kao Y, Tsai C, Huang H, Shih C, Song H, Oda Y, Chih-Hsueh Chen P, Pan C, Sittampalam K, Petersson F, Konishi E, Chiu W, Chen C, Carpenter T, Lu T, Chang C, Huang S, Folpe A. Klotho Overexpression Is Frequently Associated With Upstream Rearrangements in Fusion-Negative Phosphaturic Mesenchymal Tumors of Bone and Sinonasal Tract. Modern Pathology 2023, 36: 100336. PMID: 37742927, DOI: 10.1016/j.modpat.2023.100336.Peer-Reviewed Original ResearchConceptsPhosphaturic mesenchymal tumorMesenchymal tumorsSinonasal tractFibroblast growth factor 23Growth factor 23Fusion-positive casesBreak-apart fluorescenceSinonasal locationFISH-positive casesFinal cohortFactor 23Situ hybridizationUncommon neoplasmLarge cohortKlotho overexpressionFGFR1 inhibitionTumorsKL expressionCohortSoft tissueWhole genomic sequencingPromoter methylationConcordant resultsPatientsFurther investigationGenetic variants in the vitamin D pathway and their association with vitamin D metabolite levels: Detailed studies of an inner-city pediatric population suggest a modest but significant effect in early childhood
Fu L, Wong B, Li Z, Horst R, Williams R, Lee B, Miller J, Carpenter T, Cole D. Genetic variants in the vitamin D pathway and their association with vitamin D metabolite levels: Detailed studies of an inner-city pediatric population suggest a modest but significant effect in early childhood. The Journal Of Steroid Biochemistry And Molecular Biology 2023, 233: 106369. PMID: 37490983, DOI: 10.1016/j.jsbmb.2023.106369.Peer-Reviewed Original ResearchConceptsVitamin D pathwayD binding proteinPediatric populationInner-city pediatric populationVitamin D metabolite levelsVitamin D insufficiencyRisk pediatric populationsVitamin D metabolismVitamin D binding proteinVitamin D metabolitesD pathwayMonths of ageSanger sequencing confirmationD insufficiencyHealthy infantsD metabolismD levelsD metabolitesMultivariate regression modelLarge cohortMetabolite levelsRelevant associationsPotential roleEarly childhoodInter-individual differences
2012
Vitamin D binding protein is a key determinant of 25‐hydroxyvitamin D levels in infants and toddlers
Carpenter TO, Zhang JH, Parra E, Ellis BK, Simpson C, Lee WM, Balko J, Fu L, Wong B, Cole D. Vitamin D binding protein is a key determinant of 25‐hydroxyvitamin D levels in infants and toddlers. Journal Of Bone And Mineral Research 2012, 28: 213-221. PMID: 22887780, PMCID: PMC3511814, DOI: 10.1002/jbmr.1735.Peer-Reviewed Original ResearchConceptsD binding proteinGC single nucleotide polymorphismsVitamin D binding proteinSingle nucleotide polymorphismsD levelsVitamin D deficiencyVitamin D statusSerum DBP levelsAfrican AmericansD deficiencyD statusCommon single nucleotide polymorphismsNutritional determinantsGC genotypeLarge cohortAIM scoresMultivariate analysisDBP levels