2016
Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment
Tebben P, Singh R, Kumar R. Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment. Endocrine Reviews 2016, 37: 521-547. PMID: 27588937, PMCID: PMC5045493, DOI: 10.1210/er.2016-1070.Peer-Reviewed Original ResearchConceptsVitamin D receptorD receptorVitamin D-mediated hypercalcemiaElevated serum calcium concentrationsAssociated with elevated serumProduction of 1,25-dihydroxyvitamin DSuppressing PTH concentrationsAssociated with malignancyReduced bone densityRenal stone formersSerum calcium concentrationVitamin D metabolitesVitamin D<sub>3</sub>Primary hyperparathyroidismElevated serumPTH concentrationsMonoallelic mutationsClinical featuresCYP24A1 geneD metabolitesGranulomatous diseaseBiochemical diagnosisTumor cellsVitamin DHypercalcemiaClinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect
O’Keeffe D, Tebben P, Kumar R, Singh R, Wu Y, Wermers R. Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect. Osteoporosis International 2016, 27: 3121-3125. PMID: 27129455, DOI: 10.1007/s00198-016-3615-6.Peer-Reviewed Original ResearchConceptsMonoallelic mutationsGene dose effectCYP24A1 mutationsCYP24A1 geneBiallelic mutationsBiochemical phenotypeDisease manifestationsElevated serum 1,25(OH)2DBone turnover markersMutations of CYP24A1Dose effectCompound heterozygous mutationsVitamin D metabolitesLow PTH concentrationsSerum 1,25(OH)2DUrine calciumResultsThe probandTurnover markersUrinary calciumHeterozygous mutationsPTH concentrationsD metabolitesSequence informationIntroductionThe objectiveMedical history
2013
Chapter 16 Phosphatonins
Tebben P, Berndt T, Kumar R. Chapter 16 Phosphatonins. 2013, 373-390. DOI: 10.1016/b978-0-12-415853-5.00016-9.ChaptersMatrix extracellular phosphoglycoproteinSecreted frizzled-related protein 4Skeletal mineralizationAssociated with abnormal mineralizationActive vitamin D metaboliteFrizzled-related protein 4Fibroblast growth factor 23Vitamin D metabolitesRenal phosphate reabsorptionIntestinal phosphate absorptionPhosphaturic peptidesParathyroid hormoneD metabolitesChronic hypophosphatemiaPhosphate reabsorptionAbnormal mineralizationProtein 4Phosphorus homeostasisPhosphate homeostasisBone mineralizationEnergy homeostasisCell membrane integrityFGF23Phosphate absorption