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 studiesCohort
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
2006
Surveillance for Early Detection of Aggressive Parathyroid Disease: Carcinoma and Atypical Adenoma in Familial Isolated Hyperparathyroidism Associated With a Germline HRPT2 Mutation1*
Kelly TG, Shattuck TM, Reyes‐Mugica M, Stewart AF, Simonds WF, Udelsman R, Arnold A, Carpenter TO. Surveillance for Early Detection of Aggressive Parathyroid Disease: Carcinoma and Atypical Adenoma in Familial Isolated Hyperparathyroidism Associated With a Germline HRPT2 Mutation1*. Journal Of Bone And Mineral Research 2006, 21: 1666-1671. PMID: 16995822, DOI: 10.1359/jbmr.060702.Peer-Reviewed Original ResearchConceptsGermline HRPT2 mutationsHRPT2 mutationsPrimary hyperparathyroidismEarly detectionParathyroid tumorsFamilial hyperparathyroid syndromesAggressive histological featuresSpecific surveillance strategiesMalignant parathyroid tumorsGenetic screeningLeukocyte DNA analysisMutations of HRPT2FIHP familiesHyperparathyroidism AssociatedParathyroid statusRecurrent diseaseClassic tumor suppressor geneBiochemical surveillanceLeft neckRare causeAggressive featuresInitial tumorParathyroid diseaseSurgical extirpationPatients 7