2023
Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)
Thompson M, Li X, Spencer-Manzon M, Andrade D, Murakami Y, Kinoshita T, Carpenter T. Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3). Genes 2023, 14: 359. PMID: 36833286, PMCID: PMC9957281, DOI: 10.3390/genes14020359.Peer-Reviewed Original ResearchConceptsDigenic inheritanceDeficient CHO cell lineCell linesGPI deficiency disordersDeficient cell linesCHO cell linesBiosynthesis genesGPI attachmentMabry syndromeProtein geneStrong promoterCHO cellsUnknown significanceGenesInheritanceGene variantsAutosomal recessive inheritanceHomozygous variantNeurologic deficitsVariantsCase reportRecessive inheritanceSyndrome patientsCD55 expressionPGAP2
2019
High dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in female rats
Niu A, Carpenter TO, Grams JM, Bozorgmehri S, Tommasini SM, Schafer AL, Canales BK. High dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in female rats. Bone 2019, 127: 172-180. PMID: 31226531, PMCID: PMC6708762, DOI: 10.1016/j.bone.2019.06.015.Peer-Reviewed Original ResearchConceptsCalcium/creatinine ratioVitamin D supplementationSecondary hyperparathyroidismBone lossD supplementationGastric bypassGut hormonesRYGB groupParathyroid hormoneFracture riskFemale ratsUrine calcium/creatinine ratioBone volumeUrinary calcium/creatinine ratioHigh-dose vitamin D supplementationAdequate vitamin D supplementationC-terminal telopeptide (CTX) levelsHigher serum parathyroid hormoneIU vitamin D supplementationIU vitamin D/Bone phenotypeDose vitamin D supplementationResultant secondary hyperparathyroidismVitamin D/Serum parathyroid hormone
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
2016
Hypophosphatemia promotes lower rates of muscle ATP synthesis
Pesta DH, Tsirigotis DN, Befroy DE, Caballero D, Jurczak MJ, Rahimi Y, Cline GW, Dufour S, Birkenfeld AL, Rothman DL, Carpenter TO, Insogna K, Petersen KF, Bergwitz C, Shulman GI. Hypophosphatemia promotes lower rates of muscle ATP synthesis. The FASEB Journal 2016, 30: 3378-3387. PMID: 27338702, PMCID: PMC5024687, DOI: 10.1096/fj.201600473r.Peer-Reviewed Original ResearchConceptsMuscle ATP synthesisATP synthesisMuscle weaknessIsolated muscle mitochondriaSolute carrier familyWild-type littermate controlsSolute carrier family 34Carrier familyLower ratesInsulin-stimulated ratesMuscle mitochondriaChronic hypophosphatemiaHeart failureHypophosphatemic groupHypophosphatemic miceHypophosphatemiaLittermate controlsKnockout miceBlood PLow ratePlasma PPatientsSimilar findingsMember 1Plasma inorganic phosphatePigment epithelium‐derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade
Belinsky GS, Sreekumar B, Andrejecsk JW, Saltzman WM, Gong J, Herzog RI, Lin S, Horsley V, Carpenter TO, Chung C. Pigment epithelium‐derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade. The FASEB Journal 2016, 30: 2837-2848. PMID: 27127101, PMCID: PMC4970601, DOI: 10.1096/fj.201500027r.Peer-Reviewed Original ResearchConceptsPigment epithelium-derived factorOsteogenesis imperfecta type VIWnt/β-catenin signalingBone massOI type VIΒ-catenin signalingAbility of PEDFTrabecular bone volume/total volumeType VIBone volume/total volumeWild-type miceEpithelium-derived factorBone plasticityPEDF-knockout miceMesenchymal stem cell commitmentBone volume fractionKO micePEDF peptidesStem cell commitmentFluorescent protein reporterCombination of Wnt3aMouse modelWnt modulatorsBone mineralizationMice
2014
Gastric bypass in obese rats causes bone loss, vitamin D deficiency, metabolic acidosis, and elevated peptide YY
Canales BK, Schafer AL, Shoback DM, Carpenter TO. Gastric bypass in obese rats causes bone loss, vitamin D deficiency, metabolic acidosis, and elevated peptide YY. Surgery For Obesity And Related Diseases 2014, 10: 878-884. PMID: 24969093, PMCID: PMC4113565, DOI: 10.1016/j.soard.2014.01.021.Peer-Reviewed Original ResearchConceptsBone turnover markersDiet-induced obeseWeeks of ageSham surgeryBone lossPeptide YYRYGB animalsBone volumeHigher serum parathyroid hormoneLower trabecular bone volumeMale Sprague-Dawley ratsBone mass differencesElevated peptide YYHigher serum CTXVitamin D malabsorptionSerum parathyroid hormoneGastric bypass surgeryLow serum bicarbonateVitamin D deficiencyNormal calcium dietCortical bone volumeSham control ratsTrabecular bone volumeSprague-Dawley ratsMetabolic bone disease
2013
Determination of mesenchymal stem cell fate by pigment epithelium‐derived factor (PEDF) results in increased adiposity and reduced bone mineral content
Gattu AK, Swenson ES, Iwakiri Y, Samuel VT, Troiano N, Berry R, Church CD, Rodeheffer MS, Carpenter TO, Chung C. Determination of mesenchymal stem cell fate by pigment epithelium‐derived factor (PEDF) results in increased adiposity and reduced bone mineral content. The FASEB Journal 2013, 27: 4384-4394. PMID: 23887690, PMCID: PMC3804749, DOI: 10.1096/fj.13-232900.Peer-Reviewed Original ResearchConceptsPigment epithelium-derived factorMesenchymal stem cell fateHuman MSCsMesenchymal stem cell differentiationStem cell fateStem cell differentiationEpithelium-derived factorCell fateOsteogenesis imperfecta type VISignal transductionMSC differentiationNegative regulatorSERPINF1 geneProtein productsOsteoblast differentiationCell differentiationOsteoblast precursorsHuman diseasesPEDF-knockout micePeroxisome proliferator-activated receptorDifferentiation patternsMurine MSCsProliferator-activated receptorAdipocyte markersControl-treated cells
2009
Increased Bone Volume and Correction of HYP Mouse Hypophosphatemia in the Klotho/HYP Mouse
Brownstein CA, Zhang J, Stillman A, Ellis B, Troiano N, Adams DJ, Gundberg CM, Lifton RP, Carpenter TO. Increased Bone Volume and Correction of HYP Mouse Hypophosphatemia in the Klotho/HYP Mouse. Endocrinology 2009, 151: 492-501. PMID: 19952276, PMCID: PMC2817612, DOI: 10.1210/en.2009-0564.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCalciumCrosses, GeneticDNA PrimersDNA-Binding ProteinsFamilial Hypophosphatemic RicketsFemaleFemurFibroblast Growth Factor-23Genetic Diseases, X-LinkedGenotypeGlucuronidaseHeterozygoteHomozygoteHumansKlotho ProteinsMaleMiceMice, KnockoutNuclear ProteinsPolymerase Chain ReactionTibiaTomography, X-Ray ComputedTranscription FactorsConceptsTrabecular bone densityHyp miceBone densityGreater trabecular bone volume fractionFibroblast growth factor 23Serum PTH levelsDihydroxyvitamin D levelsGrowth factor 23Vitamin D metabolismTrabecular bone volume fractionDouble knockout miceKlotho null miceFGF23 effectsKlotho lossPhosphaturic activityPTH levelsFGF23 actionFGF23 levelsBone volume fractionFactor 23D metabolismD levelsFGF receptor 1Osteoid volumeBone volumeNuclear Isoforms of Fibroblast Growth Factor 2 Are Novel Inducers of Hypophosphatemia via Modulation of FGF23 and KLOTHO*
Xiao L, Naganawa T, Lorenzo J, Carpenter TO, Coffin JD, Hurley MM. Nuclear Isoforms of Fibroblast Growth Factor 2 Are Novel Inducers of Hypophosphatemia via Modulation of FGF23 and KLOTHO*. Journal Of Biological Chemistry 2009, 285: 2834-2846. PMID: 19933269, PMCID: PMC2807337, DOI: 10.1074/jbc.m109.030577.Peer-Reviewed Original ResearchAbsorptiometry, PhotonAnimalsCell NucleusFibroblast Growth Factor 2Fibroblast Growth Factor-23Fibroblast Growth FactorsGlucuronidaseHomeostasisHumansHypophosphatemiaIsomerismKidneyKlotho ProteinsMaleMiceMice, TransgenicMolecular WeightOsteoblastsOsteomalaciaPhenotypePhosphatesPromoter Regions, GeneticSkullSodium-Phosphate Cotransporter Proteins, Type IIaX-Ray MicrotomographySurvey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice
Liang G, Katz LD, Insogna KL, Carpenter TO, Macica CM. Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice. Calcified Tissue International 2009, 85: 235-246. PMID: 19609735, PMCID: PMC2988401, DOI: 10.1007/s00223-009-9270-6.Peer-Reviewed Original ResearchMeSH KeywordsAchilles TendonAdolescentAdultAgedAnimalsBiomarkersCalcinosisChildDisease Models, AnimalDisease ProgressionFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Diseases, X-LinkedHumansMiceMice, Inbred C57BLMiddle AgedPatellar LigamentPhenotypeQuadriceps MuscleRadiographyRheumatic DiseasesTendinopathyTendonsYoung AdultConceptsFGF-23Fibroblast growth factor receptor 3Hyp miceMajority of patientsHigh circulating levelsPhosphate-regulating hormoneBone spur formationTendon insertion siteGrowth factor receptor 3Insertion siteLigament insertion sitesCirculating LevelsPhosphate excretionBone-forming osteoblastsHeterotopic calcificationOsteophyte formationHistological examinationMurine modelReceptor 3Spur formationHypophosphatemiaEnthesis fibrocartilageBone mineralizationBiochemical milieuMice
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
2005
Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes
Sabbagh Y, Carpenter TO, Demay MB. Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 9637-9642. PMID: 15976027, PMCID: PMC1172249, DOI: 10.1073/pnas.0502249102.Peer-Reviewed Original ResearchConceptsParathyroid hormone levelsMineral ion homeostasisRachitic changesHormone levelsAbnormal mineral ion homeostasisDihydroxyvitamin D levelsVitamin D deficiencyDegree of hypophosphatemiaHypertrophic chondrocyte layerVitamin D receptorHypertrophic chondrocytesNormal phosphorus levelsGrowth plate maturationD deficiencyD levelsNormal calciumD receptorChondrocyte layerHypophosphatemiaVDR actionChondrocyte apoptosisNull miceRicketsCaspase-mediated apoptosisHypercalcemia
2002
Variable Degrees of 1-α Hydroxylase Activity—Fine Tuning the Rachitic Rheostat
Carpenter T. Variable Degrees of 1-α Hydroxylase Activity—Fine Tuning the Rachitic Rheostat. The Journal Of Clinical Endocrinology & Metabolism 2002, 87: 2421-2423. PMID: 12050192, DOI: 10.1210/jcem.87.6.8685.Peer-Reviewed Original Research
1998
Osteocalcin production in primary osteoblast cultures derived from normal and Hyp mice.
Carpenter T, Moltz K, Ellis B, Andreoli M, McCarthy T, Centrella M, Bryan D, Gundberg C. Osteocalcin production in primary osteoblast cultures derived from normal and Hyp mice. Endocrinology 1998, 139: 35-43. PMID: 9421395, DOI: 10.1210/endo.139.1.5677.Peer-Reviewed Original ResearchConceptsPrimary osteoblast culturesOsteoblast culturesRegulation of osteocalcinMessenger RNAMurine osteoblastsOsteocalcin productionOsteocalcin messenger RNASpecies-specific effectsPrimary murine osteoblastsMaturation-dependent fashionHyp mouse modelHyp miceMutant strainOsteoblast differentiationMurine cellsCultured cellsHYP culturesMurine culturesOsteoblastsRNACell viabilityPrimary culturesRegulationAltered responseNormal litter mates
1995
Media Calcium Attenuates Mitochondrial 1,25(OH)2D Production in Phosphorus or Vitamin D-Deprived Rats
Carpenter T, Ellis B. Media Calcium Attenuates Mitochondrial 1,25(OH)2D Production in Phosphorus or Vitamin D-Deprived Rats. Pediatric Research 1995, 37: 726-730. PMID: 7544454, DOI: 10.1203/00006450-199506000-00009.Peer-Reviewed Original ResearchConceptsVitamin D deprivationLow phosphorus dietVitamin DPhosphorus dietPrimary physiologic regulatorCalcium effectDeficient dietLong-term exposureCalcium modulatesMedium calciumPhysiologic regulatorRatsControl dietMarked inhibitionEffect of calciumStimulatory responseRenal mitochondriaExtramitochondrial calciumDietWkBasal activityPTHTerm exposureCalciumDeprivationSafety of parenteral hydroxypropyl β‐cyclodextrin
Carpenter T, Gerloczy A, Pitha J. Safety of parenteral hydroxypropyl β‐cyclodextrin. Journal Of Pharmaceutical Sciences 1995, 84: 222-225. PMID: 7738806, DOI: 10.1002/jps.2600840220.Peer-Reviewed Original Research
1992
Hydroxypropylcyclodextrins in parenteral use. II: Effects on transport and disposition of lipids in rabbit and humans
Irie T, Fukunaga K, Garwood M, Carpenter T, Pitha J, Pitha J. Hydroxypropylcyclodextrins in parenteral use. II: Effects on transport and disposition of lipids in rabbit and humans. Journal Of Pharmaceutical Sciences 1992, 81: 524-528. PMID: 1522488, DOI: 10.1002/jps.2600810610.Peer-Reviewed Original ResearchConceptsTotal cholesterolHyperlipidemic Watanabe rabbitsOnly untoward effectSingle intravenous administrationProximal convoluted tubulesDisposition of lipidsIntravenous infusionHypervitaminosis ARepeated administrationThoracic aortaWatanabe rabbitsIntravenous administrationUntoward effectsAtherosclerotic lesionsSingle injectionConvoluted tubulesParenteral administrationParenteral useCholesterolAdministrationSlight reliefPatientsInfusionRabbitsHydroxypropyl-beta
1989
Mineral regulation of vitamin D metabolism
Carpenter T. Mineral regulation of vitamin D metabolism. Bone And Mineral 1989, 5: 259-269. PMID: 2655775, DOI: 10.1016/0169-6009(89)90004-4.Peer-Reviewed Original ResearchConceptsVitamin D metabolismD metabolismVitamin D deficiencyForms of ricketsD deficiencyVitamin DRenal activityVivo effectsHomeostatic roleIntestinal transportRachitic deformitiesActive metaboliteMineral homeostasisClinical researchMagnesium deficiencyCalcium transportConcentration of calciumMetabolismPediatrician's interestPresent dataStimulationCalciumPhosphorus regulationDeficiencyLesser extent