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
2016
Characterization of additional vitamin D binding protein variants
Fu L, Borges CR, Rehder DS, Wong BY, Williams R, Carpenter TO, Cole DE. Characterization of additional vitamin D binding protein variants. The Journal Of Steroid Biochemistry And Molecular Biology 2016, 159: 54-59. PMID: 26924582, DOI: 10.1016/j.jsbmb.2016.02.022.Peer-Reviewed Original ResearchMeSH Keywords25-Hydroxyvitamin D 2Child, PreschoolGenetic Association StudiesHumansInfantPolymorphism, Single NucleotideSequence Analysis, DNAVitamin D-Binding ProteinConceptsMutant proteinsProtein variantsAdditional mutant proteinsSignificant genetic variationWild-type proteinExon/intron boundariesMolecular screeningEarlier biochemical studiesLow-frequency variantsGenomic DNA samplesS-cysteinylationGenetic variationGC mutationsMass spectrometric methodMass spectrometry methodIntron boundariesBinding proteinHigh-performance liquid chromatographyBiochemical studiesDisulfide bondsDisulfide speciesCodon 246Genetic variantsProteinSpecific mutations
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 ResearchMeSH KeywordsAllelesChild, PreschoolGene FrequencyGenetic MarkersHaplotypesHumansInfantMultivariate AnalysisPolymorphism, Single NucleotideRegression AnalysisVitamin DVitamin D-Binding ProteinConceptsD 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
2008
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc
Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. American Journal Of Physiology. Renal Physiology 2008, 295: f371-f379. PMID: 18480181, PMCID: PMC2519180, DOI: 10.1152/ajprenal.00090.2008.Peer-Reviewed Original ResearchMeSH KeywordsAdultAllelesAnimalsBase SequenceExocytosisFamilial Hypophosphatemic RicketsFemaleHaplotypesHumansHypercalciuriaKidneyMaleMolecular Sequence DataMutation, MissenseOocytesOpossumsPhosphatesPolymorphism, Single NucleotideSodiumSodium-Phosphate Cotransporter ProteinsSodium-Phosphate Cotransporter Proteins, Type IIcThreonineXenopus laevisConceptsEncoding enhanced green fluorescent proteinHereditary hypophosphatemic ricketsNaPi-IIcSodium-phosphate cotransporterLoss of expressionAmino acid residuesSodium-phosphate cotransportGreen fluorescence proteinImportant functional roleComplete lossOpossum kidneyHypophosphatemic ricketsXenopus laevis oocytesNovel missense mutationPaternal alleleWild-typeFunctional analysisFluorescence proteinNH2 terminusAcid residuesApical patchesCompound heterozygous mutationsExpression plasmidFunctional roleRecurrent kidney stones