2023
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
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
2017
CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations
Carpenter TO. CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations. The Journal Of Steroid Biochemistry And Molecular Biology 2017, 173: 337-340. PMID: 28093352, DOI: 10.1016/j.jsbmb.2017.01.006.Peer-Reviewed Original ResearchConceptsVitamin D metabolismD metabolismParathyroid hormoneActive vitamin D metaboliteVitamin D supplementationDietary calcium intakeIdiopathic infantile hypercalcemiaLikely disease-causing variantsVitamin D metabolitesVitamin D pathwayCalcium homeostatic systemCompound heterozygote mutationsFunction mutationsD supplementationSymptomatic hypercalcemiaCalcium intakeUnrecognized causeVitamin DCalcium metabolismD metabolitesInfantile hypercalcemiaDisease-causing variantsVariant mutationsLoss of functionActive metabolite