2024
Healthcare resource use associated with tumor-induced osteomalacia: a literature review
de Beur S, Dahir K, Imel E, Zanchetta M, Williams A, Li Z, Webb N, Crowe V, Johnson B, Carpenter T. Healthcare resource use associated with tumor-induced osteomalacia: a literature review. The Journal Of Clinical Endocrinology & Metabolism 2024, dgae431. PMID: 38913723, DOI: 10.1210/clinem/dgae431.Peer-Reviewed Original ResearchTumor-induced osteomalaciaHealthcare resource useResection outcomesCase reportHigher probability of tumor recurrenceSecrete fibroblast growth factor 23Probability of tumor recurrenceAssociated with tumor-induced osteomalaciaFibroblast growth factor 23Symptoms to diagnosisHealthcare resource burdenTumor recurrenceParaneoplastic syndromeTumor resectionAssociated with greater usePharmacological treatmentDisease characteristicsImaging testsPatientsMusculoskeletal symptomsTargeted literature reviewResource useOrthopedic surgeryProgressive disabilityMean time
2023
Circulating Levels of Leptin and Lipocalin-2 in Patients With X-Linked Hypophosphatemia
Simpson C, Santoro A, Carpenter T, Deng Y, Parziale S, Insogna K. Circulating Levels of Leptin and Lipocalin-2 in Patients With X-Linked Hypophosphatemia. Journal Of The Endocrine Society 2023, 7: bvad116. PMID: 37860221, PMCID: PMC10583534, DOI: 10.1210/jendso/bvad116.Peer-Reviewed Original ResearchLipocalin-2Control subjectsGreater riskLevels of LCN2Excessive weight gainLevels of leptinSerum leptin levelsCirculating LevelsLCN2 levelsSerum levelsYear age cohortLeptin levelsMetabolic abnormalitiesRetrospective studyAge cohortsInsulin sensitivityHigh prevalencePatientsWeight gainXLHLeptinAge 2HypophosphatemiaObesityChildrenKlotho 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 investigation
2022
Response of enthesopathy in ENPP1 deficiency to enzyme replacement therapy in murine models and enthesopathy comorbidities and quality of life in ENPP1‐deficient adults
Ansh A, Nester C, O'Brien C, Stabach P, Murtada S, Lester E, Khursigara G, Molloy L, Carpenter T, Ferreira C, Braddock D. Response of enthesopathy in ENPP1 deficiency to enzyme replacement therapy in murine models and enthesopathy comorbidities and quality of life in ENPP1‐deficient adults. The FASEB Journal 2022, 36 DOI: 10.1096/fasebj.2022.36.s1.r5311.Peer-Reviewed Original ResearchENPP1 deficiencyQuality of lifeMusculoskeletal complicationsReplacement therapyBrief Pain Inventory-Short FormPhysical Function Short FormAchilles tendon calcificationHealth-related qualityMajority of patientsCervical spine fusionPresence of enthesopathyAnalgesic medicationRegular chowResidual painAdult patientsDose escalationPhysical functionCardiovascular calcificationTendon calcificationAchilles tendonSpine fusionMurine modelHypophosphatemic ricketsEnzyme replacementPatients
2019
Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine model
Braddock D, Oheim R, Zimmerman K, Kavanagh D, Horowitz M, Carpenter T. Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine model. Bone Abstracts 2019 DOI: 10.1530/boneabs.7.p64.Peer-Reviewed Original Research
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 phosphateAn Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis
Peter P, Brownstein C, Yao G, Olear E, Simpson C, Agrawal P, Carpenter T, Insogna K. An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis. AACE Clinical Case Reports 2016, 2: ee278-ee283. DOI: 10.4158/ep15944.cr.Peer-Reviewed Original ResearchWhole-exome sequencingForms of ricketsExome sequencingGrowth factor 23Classic clinical featuresClinical suspicionClinical featuresClinical presentationFactor 23Parathyroid hormoneDihydroxyvitamin D3Correct diagnosisMistaken diagnosisUnusual caseNutritional deficienciesRicketsPatientsDiagnosisDiseaseHypophosphatemiaGenetic defectsCompound heterozygotesCYP27B1Gene sequencing technologyXLH
2015
A Practical Clinical Approach to Paediatric Phosphate Disorders
Imel EA, Carpenter TO. A Practical Clinical Approach to Paediatric Phosphate Disorders. Endocrine Development 2015, 28: 134-161. PMID: 26138840, DOI: 10.1159/000381036.Peer-Reviewed Original ResearchConceptsPhosphate disordersPractical clinical approachChronic clinical conditionsPhosphate metabolismChronic hypophosphataemiaPhosphate abnormalitiesAppropriate therapyChronic disordersPathophysiologic assessmentClinical conditionsClinical approachPhosphate physiologyCareful evaluationHyperphosphataemiaHypophosphataemiaDisordersMetabolismPatientsTherapyEtiologyAbnormalitiesDisease
2014
Pharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) after ascending single-dose administration in patients with X-linked hypophosphatemia
Zhang X, Carpenter T, Imel E, Ruppe M, Weber T, Klausner M, Kawakami T, Ito T, Humphrey J, Insogna K, Peacock M. Pharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) after ascending single-dose administration in patients with X-linked hypophosphatemia. Bone Abstracts 2014 DOI: 10.1530/boneabs.3.pp91.Peer-Reviewed Original ResearchRandomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia
Carpenter TO, Imel EA, Ruppe MD, Weber TJ, Klausner MA, Wooddell MM, Kawakami T, Ito T, Zhang X, Humphrey J, Insogna KL, Peacock M. Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. Journal Of Clinical Investigation 2014, 124: 1587-1597. PMID: 24569459, PMCID: PMC3973088, DOI: 10.1172/jci72829.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAntibodies, MonoclonalAntibodies, Monoclonal, HumanizedCalciumFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGlomerular Filtration RateHalf-LifeHumansInjections, IntravenousInjections, SubcutaneousKidney TubulesMaleMiddle AgedPhosphatesVitamin DYoung AdultConceptsTmP/GFRSerum PiParathyroid hormonePhosphate reabsorptionXLH patientsRenal tubular thresholdSerum parathyroid hormoneFavorable safety profileElevated serum FGF23Renal phosphate reabsorptionLow serum concentrationsPhosphate-regulating endopeptidaseSerum Pi concentrationFGF23 antibodySerum FGF23Dihydroxyvitamin DSafety profileTubular thresholdSingle doseSerum concentrationsKRN23Mean t1/2Potential treatmentPatientsEffect duration
2011
Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia
Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN. Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia. The Journal Of Clinical Endocrinology & Metabolism 2011, 97: e268-e274. PMID: 22112808, PMCID: PMC3275367, DOI: 10.1210/jc.2011-1972.Peer-Reviewed Original ResearchConceptsIdiopathic infantile hypercalcemiaInfantile hypercalcemiaSingle patientVitamin D 24-hydroxylase geneReplication cohortIntestinal calcium absorptionAcademic medical centerWhole-exome sequencingIIH patientsClinic cohortAdditional patientsDihydroxyvitamin D.Inpatient studyPatient populationCalcium absorptionCYP24A1 geneMedical CenterHypercalcemiaMAIN OUTCOMEAdditional cohortIntestinal absorptionPatientsConsanguineous parentsVivo functional studiesCohortA clinician's guide to X‐linked hypophosphatemia
Carpenter TO, Imel EA, Holm IA, de Beur S, Insogna KL. A clinician's guide to X‐linked hypophosphatemia. Journal Of Bone And Mineral Research 2011, 26: 1381-1388. PMID: 21538511, PMCID: PMC3157040, DOI: 10.1002/jbmr.340.BooksConceptsTreatment guidelinesRenal phosphate wastingPathophysiologic featuresPrototypic disorderPhosphate wastingClinician's GuideMissed diagnosisSupport groupsConference recommendationsCommon formComplex disorderDearth of informationHypophosphatemiaDisordersGuidelinesPatientsScientific conferencesRicketsCliniciansDiseasePhysiciansDiagnosisWasting
2008
A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism
Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP. A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 3455-3460. PMID: 18308935, PMCID: PMC2265125, DOI: 10.1073/pnas.0712361105.Peer-Reviewed Original ResearchConceptsHypophosphatemic ricketsAlpha-KlothoExcessive renal lossPhosphate levelsParathyroid massRenal failureRenal osteodystrophyFGF23 levelsMajor complicationsParathyroid hyperplasiaKidney failureRenal lossBeta-glucuronidase activityNormal responseHyperparathyroidismEnergy homeostasisRicketsBone formationSkeletal abnormalitiesPhysiologic processesPhosphate homeostasisHyperphosphatemiaPatientsHyperplasiaBone defects
2001
Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets
Holm I, Nelson A, Robinson B, Mason R, Marsh D, Cowell C, Carpenter T. Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets. The Journal Of Clinical Endocrinology & Metabolism 2001, 86: 3889-3899. PMID: 11502829, DOI: 10.1210/jcem.86.8.7761.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAmino Acid SubstitutionBone DiseasesChildDNA Mutational AnalysisExonsFamilyFemaleGenotypeHumansHypophosphatemia, FamilialMaleMiddle AgedMutationMutation, MissenseNuclear FamilyPhenotypePHEX Phosphate Regulating Neutral EndopeptidaseProteinsSequence DeletionTooth DiseasesConceptsHypophosphatemic ricketsRickets patientsHypophosphatemic rickets patientsSevere skeletal diseasePHEX mutationsSeverity of diseaseFamily membersGenotype-phenotype correlationPrognostic valueFamily historyPatientsPostpubertal malesEarly identificationSkeletal diseaseGenetic testingRicketsTruncating mutationsDental phenotypeAffected individualsMild phenotypePHEX geneDiseaseMissense mutationsDifferent mutationsSeverity
1997
Cardiovascular Abnormalities in Patients with X-Linked Hypophosphatemia
Nehgme R, Fahey J, Smith C, Carpenter T. Cardiovascular Abnormalities in Patients with X-Linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 1997, 82: 2450-2454. PMID: 9253316, DOI: 10.1210/jcem.82.8.4181.Peer-Reviewed Original ResearchConceptsBaseline blood pressureDiastolic baseline blood pressureVentricular hypertrophyCardiovascular abnormalitiesSystolic baseline blood pressureComplications of treatmentDevelopment of hypertensionExercise stress testingSex-matched controlsCardiovascular physical examinationMaximal systolic pressureModerate nephrocalcinosisCreatinine clearanceAbnormal findingsBlood pressureHealthy ageSystolic pressureHolter studiesSerum calciumCardiovascular statusTherapeutic guidelinesPhysical examinationXLH patientsPatientsSuch abnormalities
1995
Secretion of a Large Molecular‐Weight Form of Insulin‐Like Growth Factor by a Primary Renal Tumor
Korn E, van Hoff J, Buckley P, Daughaday W, Carpenter T. Secretion of a Large Molecular‐Weight Form of Insulin‐Like Growth Factor by a Primary Renal Tumor. Pediatric Blood & Cancer 1995, 24: 392-396. PMID: 7715546, DOI: 10.1002/mpo.2950240610.Peer-Reviewed Original ResearchConceptsPrimary renal tumorsIGF-IIRenal tumorsInsulin-like growth factor-II levelsInsulin-like growth factorIGF-II contentPost-operative serumTotal IGF-IIFactor II levelsPediatric renal tumorsLarge molecular weight formsPreoperative serumAbdominal massTumor resectionII levelsBiochemical hypoglycemiaHypoglycemiaTumor tissueTumorsGrowth factorResectionMolecular weight formsSerumPatientsHistologySafety 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